Incidental Mutation 'R1729:Kmt2d'
ID 198954
Institutional Source Beutler Lab
Gene Symbol Kmt2d
Ensembl Gene ENSMUSG00000048154
Gene Name lysine (K)-specific methyltransferase 2D
Synonyms Mll4, Mll2, C430014K11Rik
MMRRC Submission 039761-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1729 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 98729550-98769085 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98763013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 279 (C279R)
Ref Sequence ENSEMBL: ENSMUSP00000135941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023741] [ENSMUST00000178486]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023741
AA Change: C279R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023741
Gene: ENSMUSG00000048154
AA Change: C279R

DomainStartEndE-ValueType
low complexity region 135 145 N/A INTRINSIC
PHD 171 218 1.65e-5 SMART
RING 172 217 2.01e0 SMART
PHD 228 274 2.13e-8 SMART
RING 229 273 2.11e-3 SMART
PHD 275 321 1.57e-11 SMART
RING 276 320 2.36e0 SMART
low complexity region 430 489 N/A INTRINSIC
low complexity region 500 562 N/A INTRINSIC
low complexity region 564 613 N/A INTRINSIC
low complexity region 619 717 N/A INTRINSIC
internal_repeat_3 719 768 2.82e-8 PROSPERO
internal_repeat_3 773 822 2.82e-8 PROSPERO
low complexity region 826 842 N/A INTRINSIC
low complexity region 844 919 N/A INTRINSIC
low complexity region 958 981 N/A INTRINSIC
low complexity region 985 1023 N/A INTRINSIC
low complexity region 1069 1076 N/A INTRINSIC
low complexity region 1139 1153 N/A INTRINSIC
low complexity region 1259 1285 N/A INTRINSIC
low complexity region 1307 1314 N/A INTRINSIC
PHD 1335 1384 7.01e-9 SMART
RING 1336 1383 1.46e1 SMART
PHD 1385 1431 8.56e-13 SMART
PHD 1462 1513 1.11e-6 SMART
RING 1463 1512 1.46e1 SMART
low complexity region 1514 1538 N/A INTRINSIC
low complexity region 1567 1576 N/A INTRINSIC
low complexity region 1589 1612 N/A INTRINSIC
low complexity region 1634 1646 N/A INTRINSIC
low complexity region 1707 1719 N/A INTRINSIC
low complexity region 1883 1896 N/A INTRINSIC
low complexity region 1931 1950 N/A INTRINSIC
HMG 1969 2037 6.35e-6 SMART
low complexity region 2064 2079 N/A INTRINSIC
low complexity region 2147 2167 N/A INTRINSIC
low complexity region 2170 2181 N/A INTRINSIC
low complexity region 2306 2323 N/A INTRINSIC
low complexity region 2334 2359 N/A INTRINSIC
low complexity region 2366 2388 N/A INTRINSIC
low complexity region 2402 2419 N/A INTRINSIC
low complexity region 2546 2559 N/A INTRINSIC
low complexity region 2610 2622 N/A INTRINSIC
coiled coil region 2632 2665 N/A INTRINSIC
coiled coil region 2768 2813 N/A INTRINSIC
low complexity region 2855 2868 N/A INTRINSIC
low complexity region 2887 2899 N/A INTRINSIC
low complexity region 3151 3165 N/A INTRINSIC
low complexity region 3189 3204 N/A INTRINSIC
low complexity region 3241 3263 N/A INTRINSIC
low complexity region 3390 3400 N/A INTRINSIC
low complexity region 3629 3659 N/A INTRINSIC
coiled coil region 3712 3749 N/A INTRINSIC
low complexity region 3781 3801 N/A INTRINSIC
coiled coil region 3910 4003 N/A INTRINSIC
low complexity region 4128 4159 N/A INTRINSIC
low complexity region 4167 4183 N/A INTRINSIC
low complexity region 4226 4246 N/A INTRINSIC
low complexity region 4266 4293 N/A INTRINSIC
low complexity region 4306 4322 N/A INTRINSIC
low complexity region 4361 4378 N/A INTRINSIC
coiled coil region 4591 4613 N/A INTRINSIC
low complexity region 4661 4684 N/A INTRINSIC
low complexity region 4745 4755 N/A INTRINSIC
low complexity region 4877 4896 N/A INTRINSIC
low complexity region 4957 4983 N/A INTRINSIC
low complexity region 4989 5029 N/A INTRINSIC
low complexity region 5100 5107 N/A INTRINSIC
PHD 5142 5188 4.67e-5 SMART
RING 5143 5187 4.87e0 SMART
FYRN 5242 5285 5.07e-21 SMART
FYRC 5291 5378 2.51e-43 SMART
SET 5448 5570 5.69e-36 SMART
PostSET 5572 5588 3.58e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178486
AA Change: C279R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135941
Gene: ENSMUSG00000048154
AA Change: C279R

DomainStartEndE-ValueType
low complexity region 135 145 N/A INTRINSIC
PHD 171 218 1.65e-5 SMART
RING 172 217 2.01e0 SMART
PHD 228 274 2.13e-8 SMART
RING 229 273 2.11e-3 SMART
PHD 275 321 1.57e-11 SMART
RING 276 320 2.36e0 SMART
low complexity region 430 489 N/A INTRINSIC
low complexity region 500 562 N/A INTRINSIC
low complexity region 564 613 N/A INTRINSIC
low complexity region 619 717 N/A INTRINSIC
internal_repeat_3 719 768 2.82e-8 PROSPERO
internal_repeat_3 773 822 2.82e-8 PROSPERO
low complexity region 826 842 N/A INTRINSIC
low complexity region 844 919 N/A INTRINSIC
low complexity region 958 981 N/A INTRINSIC
low complexity region 985 1023 N/A INTRINSIC
low complexity region 1069 1076 N/A INTRINSIC
low complexity region 1139 1153 N/A INTRINSIC
low complexity region 1259 1285 N/A INTRINSIC
low complexity region 1307 1314 N/A INTRINSIC
PHD 1335 1384 7.01e-9 SMART
RING 1336 1383 1.46e1 SMART
PHD 1385 1431 8.56e-13 SMART
PHD 1462 1513 1.11e-6 SMART
RING 1463 1512 1.46e1 SMART
low complexity region 1514 1538 N/A INTRINSIC
low complexity region 1567 1576 N/A INTRINSIC
low complexity region 1589 1612 N/A INTRINSIC
low complexity region 1634 1646 N/A INTRINSIC
low complexity region 1707 1719 N/A INTRINSIC
low complexity region 1883 1896 N/A INTRINSIC
low complexity region 1931 1950 N/A INTRINSIC
HMG 1969 2037 6.35e-6 SMART
low complexity region 2064 2079 N/A INTRINSIC
low complexity region 2147 2167 N/A INTRINSIC
low complexity region 2170 2181 N/A INTRINSIC
low complexity region 2306 2323 N/A INTRINSIC
low complexity region 2334 2359 N/A INTRINSIC
low complexity region 2366 2388 N/A INTRINSIC
low complexity region 2402 2419 N/A INTRINSIC
low complexity region 2546 2559 N/A INTRINSIC
low complexity region 2610 2622 N/A INTRINSIC
coiled coil region 2632 2665 N/A INTRINSIC
coiled coil region 2768 2813 N/A INTRINSIC
low complexity region 2855 2868 N/A INTRINSIC
low complexity region 2887 2899 N/A INTRINSIC
low complexity region 3151 3165 N/A INTRINSIC
low complexity region 3189 3204 N/A INTRINSIC
low complexity region 3241 3263 N/A INTRINSIC
low complexity region 3390 3400 N/A INTRINSIC
low complexity region 3629 3659 N/A INTRINSIC
coiled coil region 3712 3749 N/A INTRINSIC
low complexity region 3781 3801 N/A INTRINSIC
coiled coil region 3910 4003 N/A INTRINSIC
low complexity region 4128 4159 N/A INTRINSIC
low complexity region 4167 4183 N/A INTRINSIC
low complexity region 4226 4246 N/A INTRINSIC
low complexity region 4266 4293 N/A INTRINSIC
low complexity region 4306 4322 N/A INTRINSIC
low complexity region 4361 4378 N/A INTRINSIC
coiled coil region 4591 4613 N/A INTRINSIC
low complexity region 4661 4684 N/A INTRINSIC
low complexity region 4745 4755 N/A INTRINSIC
low complexity region 4877 4896 N/A INTRINSIC
low complexity region 4957 4983 N/A INTRINSIC
low complexity region 4989 5029 N/A INTRINSIC
low complexity region 5100 5107 N/A INTRINSIC
PHD 5142 5188 4.67e-5 SMART
RING 5143 5187 4.87e0 SMART
FYRN 5242 5285 5.07e-21 SMART
FYRC 5291 5378 2.51e-43 SMART
SET 5448 5570 5.69e-36 SMART
PostSET 5572 5588 3.58e-5 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality around E9.5. Mice homozygous for a conditional allele activated in different cell-types exhibit impaired adipogenesis, impaired myogenesis, perturbed germinal B cell development and promoteion of lymphomagenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 225 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik G A 15: 37,439,844 (GRCm39) probably benign Het
4930453N24Rik T C 16: 64,589,385 (GRCm39) I90V probably damaging Het
Aadat A G 8: 60,979,746 (GRCm39) T203A probably damaging Het
Adam34l T C 8: 44,078,620 (GRCm39) N535D probably damaging Het
Adamts17 C T 7: 66,799,704 (GRCm39) R1060* probably null Het
Adamts5 T A 16: 85,674,803 (GRCm39) K454* probably null Het
Adgrg6 T C 10: 14,315,526 (GRCm39) T593A probably damaging Het
Aldh1l2 T A 10: 83,343,946 (GRCm39) K377* probably null Het
Aldh4a1 A G 4: 139,371,472 (GRCm39) Y462C probably damaging Het
Ankrd12 G T 17: 66,291,071 (GRCm39) P1454Q probably benign Het
Ap2m1 T A 16: 20,358,088 (GRCm39) N35K probably damaging Het
Aspm A G 1: 139,401,312 (GRCm39) I1111V probably benign Het
Atr G A 9: 95,779,634 (GRCm39) V1331I probably benign Het
Boc T C 16: 44,316,782 (GRCm39) T454A probably benign Het
C4bp C G 1: 130,570,725 (GRCm39) V284L probably benign Het
Cacna1s T C 1: 136,046,454 (GRCm39) F1761S probably benign Het
Camsap2 C T 1: 136,209,053 (GRCm39) R802Q probably benign Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Car14 G A 3: 95,808,560 (GRCm39) P18L possibly damaging Het
Cbs G T 17: 31,839,923 (GRCm39) A337E probably benign Het
Ccdc186 A C 19: 56,797,652 (GRCm39) H306Q probably benign Het
Ccdc93 T C 1: 121,389,668 (GRCm39) V237A probably benign Het
Ccdc93 C T 1: 121,383,855 (GRCm39) P192L probably benign Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cd55 C A 1: 130,387,370 (GRCm39) A143S probably benign Het
Cdh19 C A 1: 110,821,114 (GRCm39) E541D probably damaging Het
Cdh20 C G 1: 109,993,465 (GRCm39) L307V possibly damaging Het
Cdk12 T C 11: 98,140,796 (GRCm39) probably benign Het
Cep350 A T 1: 155,787,727 (GRCm39) H1370Q probably benign Het
Cfh T C 1: 140,064,526 (GRCm39) K374R probably benign Het
Cfh C T 1: 140,075,435 (GRCm39) V268I possibly damaging Het
Cfhr2 A G 1: 139,741,180 (GRCm39) M265T probably benign Het
Cfhr2 A C 1: 139,741,197 (GRCm39) N259K probably benign Het
Chat A T 14: 32,168,752 (GRCm39) L261H probably damaging Het
Chi3l1 C T 1: 134,116,267 (GRCm39) A250V probably damaging Het
Clcn1 T A 6: 42,276,448 (GRCm39) F360Y possibly damaging Het
Clgn A G 8: 84,149,659 (GRCm39) S387G probably damaging Het
Clk1 C T 1: 58,460,420 (GRCm39) R70Q probably damaging Het
Cntnap5a C T 1: 116,382,873 (GRCm39) T1047I probably benign Het
Cntnap5a C A 1: 116,382,734 (GRCm39) L1001I probably benign Het
Cntnap5a T C 1: 116,382,831 (GRCm39) L1033S probably benign Het
Crb1 A T 1: 139,165,360 (GRCm39) H921Q probably benign Het
Crb1 G A 1: 139,168,876 (GRCm39) P881S probably damaging Het
Crb1 C T 1: 139,170,733 (GRCm39) G825R probably damaging Het
Crb1 C T 1: 139,171,155 (GRCm39) R684H probably benign Het
Crb1 T C 1: 139,162,517 (GRCm39) M1214V probably benign Het
Cspg4 G T 9: 56,805,821 (GRCm39) V2211L probably benign Het
Cwh43 T C 5: 73,565,561 (GRCm39) L42P probably damaging Het
Cxcr4 C T 1: 128,517,014 (GRCm39) V216I probably benign Het
Cyb5r1 C T 1: 134,335,405 (GRCm39) R147W probably damaging Het
D830039M14Rik C T 10: 61,311,506 (GRCm39) probably benign Het
Ddx59 T C 1: 136,344,791 (GRCm39) V154A probably benign Het
Dhx30 T C 9: 109,927,819 (GRCm39) H101R probably damaging Het
Dnah11 T A 12: 117,880,666 (GRCm39) D3818V probably damaging Het
Dnah9 G A 11: 65,975,846 (GRCm39) T1401I possibly damaging Het
Dsel G C 1: 111,787,724 (GRCm39) T937S probably benign Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dstyk C T 1: 132,384,722 (GRCm39) L739F probably damaging Het
Ehf T G 2: 103,104,251 (GRCm39) T186P possibly damaging Het
Elf2 A T 3: 51,164,993 (GRCm39) V277D probably damaging Het
Etnk2 A G 1: 133,291,661 (GRCm39) S54G probably benign Het
Etnk2 C A 1: 133,293,325 (GRCm39) D89E probably benign Het
Etnk2 G T 1: 133,293,503 (GRCm39) G149W probably damaging Het
Etnk2 C T 1: 133,293,554 (GRCm39) R166* probably null Het
Etnk2 G A 1: 133,293,555 (GRCm39) R166Q probably benign Het
Etnk2 T A 1: 133,304,653 (GRCm39) V292E probably benign Het
Eya2 G T 2: 165,529,583 (GRCm39) G109W probably damaging Het
Fam72a C T 1: 131,466,633 (GRCm39) T139M probably benign Het
Fam72a T C 1: 131,458,406 (GRCm39) I56T probably benign Het
Fam78b A G 1: 166,829,199 (GRCm39) D22G possibly damaging Het
Fastkd2 T A 1: 63,790,459 (GRCm39) C628* probably null Het
Fat3 A C 9: 15,907,611 (GRCm39) V2797G possibly damaging Het
Fcamr A G 1: 130,739,317 (GRCm39) I206V probably benign Het
Fcamr G A 1: 130,740,366 (GRCm39) G262S probably benign Het
Fcamr A G 1: 130,740,429 (GRCm39) I283V probably benign Het
Fcamr T C 1: 130,740,475 (GRCm39) V298A probably benign Het
Fcamr A G 1: 130,740,546 (GRCm39) M322V probably benign Het
Fcamr C T 1: 130,740,553 (GRCm39) P324L probably benign Het
Fcamr A G 1: 130,742,334 (GRCm39) N574D probably benign Het
Fcamr A C 1: 130,732,364 (GRCm39) N117T probably benign Het
Fcmr T C 1: 130,806,006 (GRCm39) S321P probably benign Het
Fcmr A G 1: 130,803,711 (GRCm39) T172A probably benign Het
Fut10 T A 8: 31,691,418 (GRCm39) S88T probably benign Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gli2 G T 1: 118,929,774 (GRCm39) H44Q probably benign Het
Gli2 C T 1: 118,795,817 (GRCm39) A113T possibly damaging Het
Gon4l T A 3: 88,810,405 (GRCm39) D1844E probably damaging Het
Gpr25 G A 1: 136,188,448 (GRCm39) P55L probably benign Het
Guk1 A T 11: 59,076,138 (GRCm39) V100E probably damaging Het
Ifi44l T C 3: 151,468,456 (GRCm39) I25V unknown Het
Igfn1 T C 1: 135,926,421 (GRCm39) I10V unknown Het
Igfn1 C T 1: 135,907,653 (GRCm39) A231T probably benign Het
Igfn1 C T 1: 135,899,865 (GRCm39) R482Q probably benign Het
Igfn1 T C 1: 135,898,149 (GRCm39) S806G probably benign Het
Igfn1 G A 1: 135,895,937 (GRCm39) A1543V probably benign Het
Igfn1 G A 1: 135,887,666 (GRCm39) P2466L probably damaging Het
Igfn1 G A 1: 135,910,213 (GRCm39) R124W probably benign Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Ikbke T C 1: 131,197,560 (GRCm39) S447G probably benign Het
Ikbke C A 1: 131,193,674 (GRCm39) A459S probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Itprid1 T C 6: 55,945,526 (GRCm39) F749S probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnt2 G A 1: 140,282,285 (GRCm39) S90N probably benign Het
Kif14 A G 1: 136,396,017 (GRCm39) N108D probably benign Het
Kif14 T C 1: 136,453,521 (GRCm39) V1433A probably benign Het
Kif14 T C 1: 136,443,699 (GRCm39) F1291L probably benign Het
Kif14 C T 1: 136,431,169 (GRCm39) L1189F probably benign Het
Kif14 A G 1: 136,418,070 (GRCm39) S868G probably benign Het
Kif14 G A 1: 136,406,103 (GRCm39) A556T probably benign Het
Kif14 A G 1: 136,396,713 (GRCm39) K340E probably damaging Het
Kif18b A G 11: 102,806,367 (GRCm39) probably null Het
Kif26a T C 12: 112,143,219 (GRCm39) S1158P possibly damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Krt23 A T 11: 99,383,790 (GRCm39) V34D probably damaging Het
Lad1 C T 1: 135,755,119 (GRCm39) P132S possibly damaging Het
Lad1 C T 1: 135,755,761 (GRCm39) R346C probably damaging Het
Lax1 G A 1: 133,611,372 (GRCm39) P67S probably damaging Het
Lax1 T C 1: 133,607,716 (GRCm39) R342G probably benign Het
Lax1 T C 1: 133,608,307 (GRCm39) N145D probably benign Het
Lgr6 A T 1: 134,915,747 (GRCm39) S334T probably benign Het
Lgr6 G T 1: 134,918,373 (GRCm39) H263N probably benign Het
Lgr6 C T 1: 134,931,214 (GRCm39) S3N probably benign Het
Lgr6 C T 1: 134,914,826 (GRCm39) V641I probably benign Het
Lmod1 C T 1: 135,291,811 (GRCm39) T222I probably benign Het
Mb21d2 A G 16: 28,647,173 (GRCm39) V267A probably benign Het
Megf10 T C 18: 57,373,864 (GRCm39) probably null Het
Mfrp A G 9: 44,015,884 (GRCm39) T334A possibly damaging Het
Miga2 A G 2: 30,258,980 (GRCm39) H63R probably damaging Het
Mrgbp T A 2: 180,227,242 (GRCm39) N192K probably damaging Het
Mrgpra2b A G 7: 47,114,627 (GRCm39) I35T probably benign Het
Mroh3 G C 1: 136,119,882 (GRCm39) Q440E possibly damaging Het
Mybph C T 1: 134,125,218 (GRCm39) R249C probably benign Het
Nav1 A T 1: 135,512,465 (GRCm39) D198E possibly damaging Het
Ndufaf7 A T 17: 79,245,058 (GRCm39) K59M probably damaging Het
Necab3 T C 2: 154,388,795 (GRCm39) S208G probably benign Het
Nfrkb C T 9: 31,325,932 (GRCm39) T1125M probably benign Het
Npnt G A 3: 132,620,158 (GRCm39) Q112* probably null Het
Nr5a2 C A 1: 136,879,863 (GRCm39) R35L probably benign Het
Nrcam A G 12: 44,620,633 (GRCm39) K893E probably benign Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc C G 1: 133,832,908 (GRCm39) S64T probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or8b12i A T 9: 20,082,209 (GRCm39) Y219* probably null Het
Otoa T C 7: 120,724,662 (GRCm39) V447A probably benign Het
Patj G A 4: 98,320,017 (GRCm39) G428D possibly damaging Het
Pigr C T 1: 130,772,259 (GRCm39) A159V possibly damaging Het
Pik3c2b C T 1: 132,994,365 (GRCm39) P110S probably benign Het
Pkn2 G A 3: 142,516,462 (GRCm39) P555S probably benign Het
Pla2g12a A G 3: 129,688,589 (GRCm39) E149G probably benign Het
Plec C A 15: 76,061,892 (GRCm39) E2547* probably null Het
Plekha6 C G 1: 133,215,584 (GRCm39) T792S probably benign Het
Ppfia4 G A 1: 134,227,059 (GRCm39) P1159S probably benign Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptpn7 A G 1: 135,062,213 (GRCm39) Q53R probably benign Het
Ptprc T G 1: 138,027,414 (GRCm39) N478T probably benign Het
Ptprc T C 1: 138,039,992 (GRCm39) K212E possibly damaging Het
Ptprc A G 1: 138,035,575 (GRCm39) V400A probably benign Het
Ptprc C A 1: 138,035,562 (GRCm39) E402D probably benign Het
Ptprc A G 1: 138,035,561 (GRCm39) S405P probably benign Het
Rab29 A G 1: 131,799,848 (GRCm39) Q141R probably benign Het
Rab3gap1 T G 1: 127,870,223 (GRCm39) L948R probably damaging Het
Rbsn A T 6: 92,167,000 (GRCm39) L548Q possibly damaging Het
Ren1 T A 1: 133,281,944 (GRCm39) W22R probably damaging Het
Ren1 C G 1: 133,287,745 (GRCm39) L360V probably benign Het
Ren1 A T 1: 133,286,817 (GRCm39) E315D probably benign Het
Ren1 C T 1: 133,281,975 (GRCm39) T32I probably benign Het
Rint1 T A 5: 24,014,841 (GRCm39) D352E probably benign Het
Rnpep C T 1: 135,190,834 (GRCm39) A571T possibly damaging Het
Rnpep G C 1: 135,211,715 (GRCm39) A11G probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ro60 C T 1: 143,635,752 (GRCm39) V465I probably benign Het
Sctr T C 1: 119,959,386 (GRCm39) F110L probably benign Het
Sctr G A 1: 119,990,987 (GRCm39) S440N possibly damaging Het
Sctr G T 1: 119,990,976 (GRCm39) E453D probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Serpinb10 C T 1: 107,466,203 (GRCm39) S63F probably damaging Het
Serpinb2 G A 1: 107,443,365 (GRCm39) A55T probably damaging Het
Serpinb2 A C 1: 107,452,273 (GRCm39) S284R probably benign Het
Serpinb2 C T 1: 107,451,624 (GRCm39) T259I probably benign Het
Serpinb2 C T 1: 107,451,620 (GRCm39) H258Y probably benign Het
Serpinb2 C A 1: 107,451,564 (GRCm39) A239E probably benign Het
Serpinb8 A G 1: 107,525,257 (GRCm39) S20G probably benign Het
Serpinb8 A C 1: 107,534,734 (GRCm39) L268F probably benign Het
Serpinb8 G A 1: 107,526,684 (GRCm39) A75T probably benign Het
Slain2 A G 5: 73,114,957 (GRCm39) H396R probably damaging Het
Slc22a5 G A 11: 53,757,177 (GRCm39) P491L probably damaging Het
Slc26a4 A G 12: 31,594,493 (GRCm39) V285A possibly damaging Het
Slc26a9 C T 1: 131,691,608 (GRCm39) A617V probably benign Het
Slc26a9 C A 1: 131,693,750 (GRCm39) R747S probably benign Het
Slc9a8 T C 2: 167,266,065 (GRCm39) F14S probably benign Het
Spock3 T C 8: 63,802,011 (GRCm39) L330P probably damaging Het
Steap3 G A 1: 120,162,108 (GRCm39) A350V probably benign Het
Steap3 T C 1: 120,155,480 (GRCm39) N493S probably benign Het
Synpo2l G A 14: 20,715,887 (GRCm39) P233S probably damaging Het
Tasor A T 14: 27,201,590 (GRCm39) N1367Y probably damaging Het
Tbc1d19 T G 5: 53,986,714 (GRCm39) I41S probably damaging Het
Tecta G A 9: 42,303,218 (GRCm39) T138I probably benign Het
Thsd7b G C 1: 129,605,920 (GRCm39) A554P probably benign Het
Thsd7b A C 1: 130,044,368 (GRCm39) Q1116P probably benign Het
Thsd7b C T 1: 129,556,628 (GRCm39) T328I probably damaging Het
Thsd7b T A 1: 129,595,674 (GRCm39) F498Y probably benign Het
Tmem241 T A 18: 12,201,369 (GRCm39) H157L probably damaging Het
Tnfrsf25 T A 4: 152,202,761 (GRCm39) probably null Het
Tnnt2 C T 1: 135,773,244 (GRCm39) probably benign Het
Traf3ip3 T A 1: 192,864,201 (GRCm39) Q394L probably benign Het
Traf7 A G 17: 24,731,353 (GRCm39) F228L probably damaging Het
Trhr A G 15: 44,060,549 (GRCm39) E23G probably damaging Het
Trim59 T C 3: 68,944,186 (GRCm39) T385A probably benign Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Tubgcp2 T C 7: 139,577,968 (GRCm39) T779A probably benign Het
Tusc2 A T 9: 107,441,830 (GRCm39) I68F probably damaging Het
Ube2t C T 1: 134,899,905 (GRCm39) A149V probably benign Het
Usp24 A G 4: 106,217,618 (GRCm39) N447S possibly damaging Het
Usp42 T C 5: 143,700,381 (GRCm39) D1214G probably damaging Het
Vmn2r73 T C 7: 85,507,086 (GRCm39) Y742C probably damaging Het
Wdfy4 A T 14: 32,817,962 (GRCm39) S1473T possibly damaging Het
Zan C A 5: 137,413,280 (GRCm39) probably benign Het
Zc3h11a G A 1: 133,549,892 (GRCm39) P695S probably benign Het
Zfyve9 A C 4: 108,575,698 (GRCm39) V461G possibly damaging Het
Zp3r A G 1: 130,524,551 (GRCm39) L164P probably benign Het
Zp3r C A 1: 130,547,151 (GRCm39) E8D possibly damaging Het
Other mutations in Kmt2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Kmt2d APN 15 98,760,214 (GRCm39) missense unknown
IGL00927:Kmt2d APN 15 98,742,890 (GRCm39) unclassified probably benign
IGL01123:Kmt2d APN 15 98,735,029 (GRCm39) missense unknown
IGL01288:Kmt2d APN 15 98,762,925 (GRCm39) missense probably damaging 1.00
IGL01538:Kmt2d APN 15 98,758,538 (GRCm39) unclassified probably benign
IGL01575:Kmt2d APN 15 98,744,736 (GRCm39) utr 3 prime probably benign
IGL01584:Kmt2d APN 15 98,754,250 (GRCm39) unclassified probably benign
IGL01750:Kmt2d APN 15 98,751,049 (GRCm39) unclassified probably benign
IGL02163:Kmt2d APN 15 98,733,109 (GRCm39) unclassified probably benign
IGL02209:Kmt2d APN 15 98,752,448 (GRCm39) unclassified probably benign
IGL02253:Kmt2d APN 15 98,756,056 (GRCm39) unclassified probably benign
IGL02271:Kmt2d APN 15 98,764,309 (GRCm39) missense possibly damaging 0.89
IGL02291:Kmt2d APN 15 98,763,373 (GRCm39) splice site probably benign
IGL02448:Kmt2d APN 15 98,741,991 (GRCm39) unclassified probably benign
IGL02472:Kmt2d APN 15 98,747,958 (GRCm39) missense probably benign 0.23
IGL02496:Kmt2d APN 15 98,755,439 (GRCm39) unclassified probably benign
IGL02527:Kmt2d APN 15 98,739,628 (GRCm39) unclassified probably benign
IGL02576:Kmt2d APN 15 98,762,001 (GRCm39) missense unknown
IGL02597:Kmt2d APN 15 98,761,712 (GRCm39) missense unknown
IGL02609:Kmt2d APN 15 98,749,674 (GRCm39) unclassified probably benign
IGL03085:Kmt2d APN 15 98,737,821 (GRCm39) unclassified probably benign
IGL03102:Kmt2d APN 15 98,753,424 (GRCm39) missense probably benign
IGL03123:Kmt2d APN 15 98,759,652 (GRCm39) missense unknown
G1citation:Kmt2d UTSW 15 98,747,340 (GRCm39) unclassified probably benign
R0091:Kmt2d UTSW 15 98,742,360 (GRCm39) unclassified probably benign
R0136:Kmt2d UTSW 15 98,752,159 (GRCm39) unclassified probably benign
R0243:Kmt2d UTSW 15 98,748,018 (GRCm39) unclassified probably benign
R0276:Kmt2d UTSW 15 98,748,192 (GRCm39) unclassified probably benign
R0477:Kmt2d UTSW 15 98,751,462 (GRCm39) unclassified probably benign
R0478:Kmt2d UTSW 15 98,751,462 (GRCm39) unclassified probably benign
R0586:Kmt2d UTSW 15 98,733,088 (GRCm39) unclassified probably benign
R0632:Kmt2d UTSW 15 98,751,462 (GRCm39) unclassified probably benign
R0678:Kmt2d UTSW 15 98,748,294 (GRCm39) unclassified probably benign
R0780:Kmt2d UTSW 15 98,760,738 (GRCm39) missense unknown
R0891:Kmt2d UTSW 15 98,750,572 (GRCm39) unclassified probably benign
R1136:Kmt2d UTSW 15 98,755,646 (GRCm39) unclassified probably benign
R1417:Kmt2d UTSW 15 98,764,311 (GRCm39) missense probably damaging 0.99
R1499:Kmt2d UTSW 15 98,742,819 (GRCm39) unclassified probably benign
R1510:Kmt2d UTSW 15 98,754,258 (GRCm39) unclassified probably benign
R1586:Kmt2d UTSW 15 98,762,934 (GRCm39) splice site probably benign
R1640:Kmt2d UTSW 15 98,742,938 (GRCm39) unclassified probably benign
R1714:Kmt2d UTSW 15 98,760,831 (GRCm39) missense unknown
R1725:Kmt2d UTSW 15 98,743,115 (GRCm39) unclassified probably benign
R1728:Kmt2d UTSW 15 98,763,013 (GRCm39) missense probably damaging 1.00
R1741:Kmt2d UTSW 15 98,743,115 (GRCm39) unclassified probably benign
R1744:Kmt2d UTSW 15 98,762,928 (GRCm39) missense probably damaging 0.99
R1746:Kmt2d UTSW 15 98,762,259 (GRCm39) missense probably damaging 0.97
R1753:Kmt2d UTSW 15 98,741,363 (GRCm39) unclassified probably benign
R1782:Kmt2d UTSW 15 98,755,429 (GRCm39) unclassified probably benign
R1789:Kmt2d UTSW 15 98,749,955 (GRCm39) unclassified probably benign
R1802:Kmt2d UTSW 15 98,760,866 (GRCm39) missense unknown
R1808:Kmt2d UTSW 15 98,764,567 (GRCm39) missense probably damaging 1.00
R1822:Kmt2d UTSW 15 98,759,661 (GRCm39) missense unknown
R1831:Kmt2d UTSW 15 98,753,224 (GRCm39) missense probably damaging 0.97
R1920:Kmt2d UTSW 15 98,753,472 (GRCm39) missense probably damaging 1.00
R1920:Kmt2d UTSW 15 98,753,471 (GRCm39) missense probably damaging 0.96
R1956:Kmt2d UTSW 15 98,757,471 (GRCm39) unclassified probably benign
R2100:Kmt2d UTSW 15 98,744,361 (GRCm39) unclassified probably benign
R2120:Kmt2d UTSW 15 98,737,410 (GRCm39) unclassified probably benign
R2188:Kmt2d UTSW 15 98,737,181 (GRCm39) unclassified probably benign
R2191:Kmt2d UTSW 15 98,758,930 (GRCm39) critical splice donor site probably null
R2234:Kmt2d UTSW 15 98,763,129 (GRCm39) missense probably damaging 0.98
R2422:Kmt2d UTSW 15 98,760,147 (GRCm39) missense unknown
R2762:Kmt2d UTSW 15 98,749,936 (GRCm39) unclassified probably benign
R2895:Kmt2d UTSW 15 98,741,820 (GRCm39) unclassified probably benign
R3624:Kmt2d UTSW 15 98,740,783 (GRCm39) unclassified probably benign
R3791:Kmt2d UTSW 15 98,742,030 (GRCm39) unclassified probably benign
R3794:Kmt2d UTSW 15 98,735,240 (GRCm39) unclassified probably benign
R3871:Kmt2d UTSW 15 98,748,902 (GRCm39) unclassified probably benign
R3958:Kmt2d UTSW 15 98,753,430 (GRCm39) missense possibly damaging 0.69
R3983:Kmt2d UTSW 15 98,743,927 (GRCm39) unclassified probably benign
R4211:Kmt2d UTSW 15 98,738,070 (GRCm39) unclassified probably benign
R4212:Kmt2d UTSW 15 98,742,884 (GRCm39) unclassified probably benign
R4240:Kmt2d UTSW 15 98,742,452 (GRCm39) unclassified probably benign
R4246:Kmt2d UTSW 15 98,737,970 (GRCm39) unclassified probably benign
R4361:Kmt2d UTSW 15 98,761,551 (GRCm39) missense unknown
R4388:Kmt2d UTSW 15 98,751,507 (GRCm39) unclassified probably benign
R4602:Kmt2d UTSW 15 98,748,140 (GRCm39) unclassified probably benign
R4606:Kmt2d UTSW 15 98,737,597 (GRCm39) unclassified probably benign
R4658:Kmt2d UTSW 15 98,750,410 (GRCm39) unclassified probably benign
R4840:Kmt2d UTSW 15 98,759,775 (GRCm39) missense unknown
R4895:Kmt2d UTSW 15 98,742,368 (GRCm39) unclassified probably benign
R4906:Kmt2d UTSW 15 98,747,420 (GRCm39) unclassified probably benign
R4976:Kmt2d UTSW 15 98,745,075 (GRCm39) utr 3 prime probably benign
R5093:Kmt2d UTSW 15 98,754,043 (GRCm39) missense probably damaging 1.00
R5119:Kmt2d UTSW 15 98,745,075 (GRCm39) utr 3 prime probably benign
R5160:Kmt2d UTSW 15 98,738,105 (GRCm39) unclassified probably benign
R5260:Kmt2d UTSW 15 98,740,741 (GRCm39) unclassified probably benign
R5274:Kmt2d UTSW 15 98,752,111 (GRCm39) unclassified probably benign
R5450:Kmt2d UTSW 15 98,752,967 (GRCm39) missense probably damaging 1.00
R5461:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5462:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5463:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5465:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5467:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5481:Kmt2d UTSW 15 98,759,886 (GRCm39) missense unknown
R5509:Kmt2d UTSW 15 98,737,557 (GRCm39) unclassified probably benign
R5534:Kmt2d UTSW 15 98,735,238 (GRCm39) unclassified probably benign
R5536:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5537:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5538:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5546:Kmt2d UTSW 15 98,750,949 (GRCm39) unclassified probably benign
R5595:Kmt2d UTSW 15 98,747,905 (GRCm39) unclassified probably benign
R5645:Kmt2d UTSW 15 98,742,278 (GRCm39) unclassified probably benign
R5679:Kmt2d UTSW 15 98,752,153 (GRCm39) unclassified probably benign
R5710:Kmt2d UTSW 15 98,751,987 (GRCm39) unclassified probably benign
R5755:Kmt2d UTSW 15 98,761,527 (GRCm39) missense unknown
R5817:Kmt2d UTSW 15 98,760,244 (GRCm39) missense unknown
R5841:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5842:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5843:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5844:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R5845:Kmt2d UTSW 15 98,749,990 (GRCm39) unclassified probably benign
R6122:Kmt2d UTSW 15 98,758,573 (GRCm39) unclassified probably benign
R6612:Kmt2d UTSW 15 98,743,739 (GRCm39) unclassified probably benign
R6718:Kmt2d UTSW 15 98,747,467 (GRCm39) unclassified probably benign
R6718:Kmt2d UTSW 15 98,748,420 (GRCm39) unclassified probably benign
R6822:Kmt2d UTSW 15 98,747,340 (GRCm39) unclassified probably benign
R6866:Kmt2d UTSW 15 98,755,274 (GRCm39) unclassified probably benign
R6950:Kmt2d UTSW 15 98,737,901 (GRCm39) unclassified probably benign
R7089:Kmt2d UTSW 15 98,748,153 (GRCm39) missense unknown
R7120:Kmt2d UTSW 15 98,758,946 (GRCm39) missense unknown
R7131:Kmt2d UTSW 15 98,747,497 (GRCm39) unclassified probably benign
R7177:Kmt2d UTSW 15 98,748,267 (GRCm39) missense unknown
R7194:Kmt2d UTSW 15 98,741,714 (GRCm39) missense unknown
R7252:Kmt2d UTSW 15 98,742,147 (GRCm39) missense unknown
R7282:Kmt2d UTSW 15 98,751,985 (GRCm39) missense unknown
R7307:Kmt2d UTSW 15 98,747,299 (GRCm39) missense unknown
R7313:Kmt2d UTSW 15 98,754,504 (GRCm39) missense unknown
R7394:Kmt2d UTSW 15 98,754,265 (GRCm39) missense unknown
R7404:Kmt2d UTSW 15 98,743,376 (GRCm39) missense unknown
R7409:Kmt2d UTSW 15 98,753,235 (GRCm39) missense probably damaging 1.00
R7414:Kmt2d UTSW 15 98,737,737 (GRCm39) missense unknown
R7534:Kmt2d UTSW 15 98,749,899 (GRCm39) missense unknown
R7575:Kmt2d UTSW 15 98,747,492 (GRCm39) unclassified probably benign
R7650:Kmt2d UTSW 15 98,748,751 (GRCm39) missense unknown
R7687:Kmt2d UTSW 15 98,760,001 (GRCm39) missense unknown
R7699:Kmt2d UTSW 15 98,741,600 (GRCm39) missense unknown
R7700:Kmt2d UTSW 15 98,741,600 (GRCm39) missense unknown
R7765:Kmt2d UTSW 15 98,750,215 (GRCm39) missense unknown
R7797:Kmt2d UTSW 15 98,762,287 (GRCm39) missense probably benign 0.24
R7803:Kmt2d UTSW 15 98,760,804 (GRCm39) missense unknown
R7952:Kmt2d UTSW 15 98,748,649 (GRCm39) missense unknown
R8054:Kmt2d UTSW 15 98,741,806 (GRCm39) missense unknown
R8084:Kmt2d UTSW 15 98,739,945 (GRCm39) missense unknown
R8089:Kmt2d UTSW 15 98,740,750 (GRCm39) missense unknown
R8133:Kmt2d UTSW 15 98,762,823 (GRCm39) missense probably damaging 1.00
R8138:Kmt2d UTSW 15 98,741,534 (GRCm39) missense unknown
R8343:Kmt2d UTSW 15 98,750,478 (GRCm39) missense unknown
R8681:Kmt2d UTSW 15 98,743,948 (GRCm39) missense unknown
R8694:Kmt2d UTSW 15 98,742,615 (GRCm39) missense unknown
R8837:Kmt2d UTSW 15 98,762,048 (GRCm39) missense unknown
R8855:Kmt2d UTSW 15 98,754,237 (GRCm39) missense unknown
R8934:Kmt2d UTSW 15 98,759,767 (GRCm39) missense unknown
R9100:Kmt2d UTSW 15 98,747,832 (GRCm39) missense unknown
R9158:Kmt2d UTSW 15 98,741,020 (GRCm39) missense unknown
R9190:Kmt2d UTSW 15 98,749,896 (GRCm39) missense unknown
R9222:Kmt2d UTSW 15 98,747,324 (GRCm39) missense unknown
R9263:Kmt2d UTSW 15 98,747,499 (GRCm39) frame shift probably null
R9336:Kmt2d UTSW 15 98,743,697 (GRCm39) missense unknown
R9397:Kmt2d UTSW 15 98,747,994 (GRCm39) missense unknown
R9415:Kmt2d UTSW 15 98,737,586 (GRCm39) missense unknown
R9482:Kmt2d UTSW 15 98,763,046 (GRCm39) missense probably damaging 1.00
R9529:Kmt2d UTSW 15 98,737,649 (GRCm39) missense unknown
R9610:Kmt2d UTSW 15 98,743,057 (GRCm39) unclassified probably benign
R9611:Kmt2d UTSW 15 98,743,057 (GRCm39) unclassified probably benign
R9611:Kmt2d UTSW 15 98,743,054 (GRCm39) unclassified probably benign
R9612:Kmt2d UTSW 15 98,743,057 (GRCm39) unclassified probably benign
R9613:Kmt2d UTSW 15 98,743,057 (GRCm39) unclassified probably benign
R9644:Kmt2d UTSW 15 98,743,385 (GRCm39) missense unknown
R9716:Kmt2d UTSW 15 98,741,283 (GRCm39) missense unknown
R9763:Kmt2d UTSW 15 98,743,057 (GRCm39) unclassified probably benign
R9782:Kmt2d UTSW 15 98,764,597 (GRCm39) missense probably damaging 1.00
X0018:Kmt2d UTSW 15 98,750,803 (GRCm39) unclassified probably benign
X0024:Kmt2d UTSW 15 98,750,934 (GRCm39) unclassified probably benign
X0062:Kmt2d UTSW 15 98,747,700 (GRCm39) unclassified probably benign
Z1187:Kmt2d UTSW 15 98,749,625 (GRCm39) missense unknown
Z1188:Kmt2d UTSW 15 98,749,625 (GRCm39) missense unknown
Z1189:Kmt2d UTSW 15 98,749,625 (GRCm39) missense unknown
Z1190:Kmt2d UTSW 15 98,749,625 (GRCm39) missense unknown
Z1192:Kmt2d UTSW 15 98,749,625 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATTTCCACGAGTGAGCAGGCAG -3'
(R):5'- AGCGTGCCTTTGGTTTTAGTACTCC -3'

Sequencing Primer
(F):5'- AGGCAGGTCCTCCATAGG -3'
(R):5'- CAGAATAGTATACGTGCTGGCTC -3'
Posted On 2014-05-23