Incidental Mutation 'R1728:Kmt2d'
ID 198614
Institutional Source Beutler Lab
Gene Symbol Kmt2d
Ensembl Gene ENSMUSG00000048154
Gene Name lysine (K)-specific methyltransferase 2D
Synonyms Mll2, C430014K11Rik, Mll4
MMRRC Submission 039760-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1728 (G1)
Quality Score 223
Status Not validated
Chromosome 15
Chromosomal Location 98831669-98871204 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98865132 bp (GRCm38)
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: 91.4%
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: 223 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik G A 15: 37,439,600 (GRCm38) probably benign Het
Aadat A G 8: 60,526,712 (GRCm38) T203A probably damaging Het
Abca13 T A 11: 9,249,680 (GRCm38) F104L probably benign Het
Acox1 T A 11: 116,198,283 (GRCm38) probably null Het
Adamts17 C T 7: 67,149,956 (GRCm38) R1060* probably null Het
Adgrg6 T C 10: 14,439,782 (GRCm38) T593A probably damaging Het
Ankrd12 G T 17: 65,984,076 (GRCm38) P1454Q probably benign Het
Ap2m1 T A 16: 20,539,338 (GRCm38) N35K probably damaging Het
Aspm A G 1: 139,473,574 (GRCm38) I1111V probably benign Het
Atr G A 9: 95,897,581 (GRCm38) V1331I probably benign Het
Bola1 C T 3: 96,197,110 (GRCm38) G56D probably benign Het
Brsk1 A G 7: 4,704,219 (GRCm38) D257G probably damaging Het
C4bp C G 1: 130,642,988 (GRCm38) V284L probably benign Het
Cacna1s T C 1: 136,118,716 (GRCm38) F1761S probably benign Het
Camsap2 C T 1: 136,281,315 (GRCm38) R802Q probably benign Het
Cbs G T 17: 31,620,949 (GRCm38) A337E probably benign Het
Ccdc129 T C 6: 55,968,541 (GRCm38) F749S probably benign Het
Ccdc186 A C 19: 56,809,220 (GRCm38) H306Q probably benign Het
Ccdc93 T C 1: 121,461,939 (GRCm38) V237A probably benign Het
Ccdc93 C T 1: 121,456,126 (GRCm38) P192L probably benign Het
Cd55 C A 1: 130,459,633 (GRCm38) A143S probably benign Het
Cd55 C T 1: 130,449,423 (GRCm38) V333I probably benign Het
Cdh19 C A 1: 110,893,384 (GRCm38) E541D probably damaging Het
Cdh7 C G 1: 110,065,735 (GRCm38) L307V possibly damaging Het
Cfh C T 1: 140,147,697 (GRCm38) V268I possibly damaging Het
Cfhr2 A C 1: 139,813,459 (GRCm38) N259K probably benign Het
Cfhr2 A G 1: 139,813,442 (GRCm38) M265T probably benign Het
Chil1 C T 1: 134,188,529 (GRCm38) A250V probably damaging Het
Chrnb1 C A 11: 69,785,762 (GRCm38) D388Y probably damaging Het
Clcn1 T A 6: 42,299,514 (GRCm38) F360Y possibly damaging Het
Clgn A G 8: 83,423,030 (GRCm38) S387G probably damaging Het
Cntnap5a C T 1: 116,455,143 (GRCm38) T1047I probably benign Het
Cntnap5a T C 1: 116,455,101 (GRCm38) L1033S probably benign Het
Cntnap5a C A 1: 116,455,004 (GRCm38) L1001I probably benign Het
Coil G A 11: 88,973,976 (GRCm38) V10I probably damaging Het
Col4a1 G A 8: 11,212,712 (GRCm38) P1256S possibly damaging Het
Copa T A 1: 172,111,987 (GRCm38) F597Y probably benign Het
Crb1 A T 1: 139,237,622 (GRCm38) H921Q probably benign Het
Crb1 G A 1: 139,241,138 (GRCm38) P881S probably damaging Het
Crb1 C T 1: 139,242,995 (GRCm38) G825R probably damaging Het
Crb1 T C 1: 139,234,779 (GRCm38) M1214V probably benign Het
Crb1 C T 1: 139,243,417 (GRCm38) R684H probably benign Het
Crybg1 T A 10: 44,004,019 (GRCm38) Q391L probably damaging Het
Cspg4 G T 9: 56,898,537 (GRCm38) V2211L probably benign Het
Cxcr4 C T 1: 128,589,277 (GRCm38) V216I probably benign Het
Cyb5r1 C T 1: 134,407,667 (GRCm38) R147W probably damaging Het
Ddx59 T C 1: 136,417,053 (GRCm38) V154A probably benign Het
Dhx30 T C 9: 110,098,751 (GRCm38) H101R probably damaging Het
Dnah11 T A 12: 117,916,931 (GRCm38) D3818V probably damaging Het
Dnah17 C T 11: 118,069,519 (GRCm38) C2572Y possibly damaging Het
Dsel T C 1: 111,859,457 (GRCm38) N1116S probably benign Het
Dsel G C 1: 111,859,994 (GRCm38) T937S probably benign Het
Dstyk C T 1: 132,456,984 (GRCm38) L739F probably damaging Het
Ehf T G 2: 103,273,906 (GRCm38) T186P possibly damaging Het
En1 A G 1: 120,603,621 (GRCm38) S197G unknown Het
Etnk2 T A 1: 133,376,915 (GRCm38) V292E probably benign Het
Etnk2 G A 1: 133,365,817 (GRCm38) R166Q probably benign Het
Etnk2 C T 1: 133,365,816 (GRCm38) R166* probably null Het
Etnk2 G T 1: 133,365,765 (GRCm38) G149W probably damaging Het
Etnk2 C A 1: 133,365,587 (GRCm38) D89E probably benign Het
Fam187b C T 7: 30,989,020 (GRCm38) Q268* probably null Het
Fam72a T C 1: 131,530,668 (GRCm38) I56T probably benign Het
Fam72a C T 1: 131,538,895 (GRCm38) T139M probably benign Het
Fat3 A C 9: 15,996,315 (GRCm38) V2797G possibly damaging Het
Fcamr A G 1: 130,804,569 (GRCm38) R98G probably benign Het
Fcamr C T 1: 130,812,816 (GRCm38) P324L probably benign Het
Fcamr A C 1: 130,804,627 (GRCm38) N117T probably benign Het
Fcamr A G 1: 130,814,597 (GRCm38) N574D probably benign Het
Fcamr A G 1: 130,811,580 (GRCm38) I206V probably benign Het
Fcamr G A 1: 130,812,629 (GRCm38) G262S probably benign Het
Fcamr A G 1: 130,812,692 (GRCm38) I283V probably benign Het
Fcamr A G 1: 130,812,809 (GRCm38) M322V probably benign Het
Fcamr T C 1: 130,812,738 (GRCm38) V298A probably benign Het
Fcmr A G 1: 130,875,974 (GRCm38) T172A probably benign Het
Fcmr T C 1: 130,878,269 (GRCm38) S321P probably benign Het
Fut10 T A 8: 31,201,390 (GRCm38) S88T probably benign Het
Gabarap C T 11: 69,991,689 (GRCm38) probably benign Het
Gli2 G T 1: 119,002,044 (GRCm38) H44Q probably benign Het
Gli2 C T 1: 118,868,087 (GRCm38) A113T possibly damaging Het
Glrx2 C T 1: 143,739,740 (GRCm38) A27V possibly damaging Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,327,321 (GRCm38) probably benign Het
Gm5346 T C 8: 43,625,583 (GRCm38) N535D probably damaging Het
Gpr25 G A 1: 136,260,710 (GRCm38) P55L probably benign Het
Gse1 G A 8: 120,568,253 (GRCm38) probably benign Het
Heatr4 T C 12: 83,967,572 (GRCm38) I630M probably benign Het
Hectd4 A T 5: 121,301,839 (GRCm38) Y1134F possibly damaging Het
Igfn1 G A 1: 135,959,928 (GRCm38) P2466L probably damaging Het
Igfn1 G A 1: 135,968,199 (GRCm38) A1543V probably benign Het
Igfn1 T C 1: 135,970,411 (GRCm38) S806G probably benign Het
Igfn1 C T 1: 135,972,127 (GRCm38) R482Q probably benign Het
Igfn1 C T 1: 135,979,915 (GRCm38) A231T probably benign Het
Igfn1 G A 1: 135,982,475 (GRCm38) R124W probably benign Het
Igfn1 T C 1: 135,998,625 (GRCm38) E29G probably benign Het
Igfn1 T C 1: 135,998,683 (GRCm38) I10V unknown Het
Ikbke T C 1: 131,269,823 (GRCm38) S447G probably benign Het
Ikbke C A 1: 131,265,937 (GRCm38) A459S probably benign Het
Ildr1 A T 16: 36,708,336 (GRCm38) T48S possibly damaging Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,386,268 (GRCm38) probably benign Het
Ipo9 CTC CTCTTC 1: 135,386,271 (GRCm38) probably benign Het
Ipo9 A G 1: 135,402,250 (GRCm38) V484A probably benign Het
Jarid2 T A 13: 44,906,276 (GRCm38) N661K probably damaging Het
Kcnh5 T C 12: 75,137,691 (GRCm38) D86G probably benign Het
Kcnt2 G A 1: 140,354,547 (GRCm38) S90N probably benign Het
Kif14 T C 1: 136,525,783 (GRCm38) V1433A probably benign Het
Kif14 T C 1: 136,515,961 (GRCm38) F1291L probably benign Het
Kif14 C T 1: 136,503,431 (GRCm38) L1189F probably benign Het
Kif14 A G 1: 136,490,332 (GRCm38) S868G probably benign Het
Kif14 G A 1: 136,478,365 (GRCm38) A556T probably benign Het
Kif14 A G 1: 136,468,279 (GRCm38) N108D probably benign Het
Kif14 A G 1: 136,468,975 (GRCm38) K340E probably damaging Het
Kif1b T C 4: 149,187,722 (GRCm38) T1541A probably damaging Het
Kif21b A G 1: 136,160,121 (GRCm38) I983V possibly damaging Het
Kif26a T C 12: 112,176,785 (GRCm38) S1158P possibly damaging Het
Kpna3 T A 14: 61,367,701 (GRCm38) E499V probably benign Het
Krt16 T C 11: 100,247,707 (GRCm38) E205G probably damaging Het
Lad1 C T 1: 135,828,023 (GRCm38) R346C probably damaging Het
Lad1 C T 1: 135,827,381 (GRCm38) P132S possibly damaging Het
Lax1 G A 1: 133,683,634 (GRCm38) P67S probably damaging Het
Lax1 T C 1: 133,680,569 (GRCm38) N145D probably benign Het
Lax1 T C 1: 133,679,978 (GRCm38) R342G probably benign Het
Lgr6 C T 1: 135,003,476 (GRCm38) S3N probably benign Het
Lgr6 G T 1: 134,990,635 (GRCm38) H263N probably benign Het
Lgr6 C T 1: 134,987,088 (GRCm38) V641I probably benign Het
Lmod1 C T 1: 135,364,073 (GRCm38) T222I probably benign Het
Mb21d2 A G 16: 28,828,421 (GRCm38) V267A probably benign Het
Mfrp A G 9: 44,104,587 (GRCm38) T334A possibly damaging Het
Morc1 T A 16: 48,612,297 (GRCm38) D709E probably benign Het
Mrgpra2b A G 7: 47,464,879 (GRCm38) I35T probably benign Het
Mroh3 G C 1: 136,192,144 (GRCm38) Q440E possibly damaging Het
Mybph C T 1: 134,197,480 (GRCm38) R249C probably benign Het
Mycbp2 A T 14: 103,155,178 (GRCm38) C3206S probably damaging Het
Nav1 A T 1: 135,584,727 (GRCm38) D198E possibly damaging Het
Ndufaf7 A T 17: 78,937,629 (GRCm38) K59M probably damaging Het
Necab3 T C 2: 154,546,875 (GRCm38) S208G probably benign Het
Nr5a2 C A 1: 136,952,125 (GRCm38) R35L probably benign Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Olfr1026 T A 2: 85,924,122 (GRCm38) L285I possibly damaging Het
Olfr1240 C T 2: 89,439,583 (GRCm38) R232H probably benign Het
Olfr402 A G 11: 74,155,976 (GRCm38) D274G probably damaging Het
Olfr453 C A 6: 42,744,135 (GRCm38) L33M possibly damaging Het
Olfr870 A T 9: 20,170,913 (GRCm38) Y219* probably null Het
Optc A T 1: 133,903,796 (GRCm38) probably null Het
Optc C G 1: 133,905,170 (GRCm38) S64T probably benign Het
Otoa T C 7: 121,125,439 (GRCm38) V447A probably benign Het
Papss1 A G 3: 131,605,967 (GRCm38) N319D probably benign Het
Patj G A 4: 98,431,780 (GRCm38) G428D possibly damaging Het
Pcdhb3 G A 18: 37,301,878 (GRCm38) G299D probably damaging Het
Pcsk4 T C 10: 80,323,570 (GRCm38) D432G probably damaging Het
Pde5a G T 3: 122,748,240 (GRCm38) L126F probably damaging Het
Pigr C T 1: 130,844,522 (GRCm38) A159V possibly damaging Het
Pik3c2b C T 1: 133,066,627 (GRCm38) P110S probably benign Het
Pinx1 A G 14: 63,878,110 (GRCm38) probably null Het
Plec C A 15: 76,177,692 (GRCm38) E2547* probably null Het
Plekha6 C G 1: 133,287,846 (GRCm38) T792S probably benign Het
Ppfia4 G A 1: 134,299,321 (GRCm38) P1159S probably benign Het
Ppil2 C G 16: 17,089,419 (GRCm38) probably benign Het
Prelp C T 1: 133,915,131 (GRCm38) R92K probably benign Het
Prrx1 T A 1: 163,261,967 (GRCm38) N97I probably damaging Het
Ptpn7 A G 1: 135,134,475 (GRCm38) Q53R probably benign Het
Ptprc T G 1: 138,099,676 (GRCm38) N478T probably benign Het
Ptprc A G 1: 138,107,823 (GRCm38) S405P probably benign Het
Ptprc C A 1: 138,107,824 (GRCm38) E402D probably benign Het
Ptprc A G 1: 138,107,837 (GRCm38) V400A probably benign Het
Ptprc T C 1: 138,112,254 (GRCm38) K212E possibly damaging Het
Rab29 A G 1: 131,872,110 (GRCm38) Q141R probably benign Het
Rbsn A T 6: 92,190,019 (GRCm38) L548Q possibly damaging Het
Ren1 C G 1: 133,360,007 (GRCm38) L360V probably benign Het
Ren1 A T 1: 133,359,983 (GRCm38) N352Y probably benign Het
Ren1 T A 1: 133,354,206 (GRCm38) W22R probably damaging Het
Ren1 A T 1: 133,359,079 (GRCm38) E315D probably benign Het
Ren1 C A 1: 133,358,982 (GRCm38) probably null Het
Ren1 A C 1: 133,356,457 (GRCm38) K187Q probably benign Het
Ren1 C T 1: 133,354,237 (GRCm38) T32I probably benign Het
Rnpep G C 1: 135,283,977 (GRCm38) A11G probably benign Het
Rnpep C T 1: 135,263,096 (GRCm38) A571T possibly damaging Het
Ryr2 C T 13: 11,587,422 (GRCm38) V4525M possibly damaging Het
Sctr G A 1: 120,063,257 (GRCm38) S440N possibly damaging Het
Sctr T C 1: 120,031,656 (GRCm38) F110L probably benign Het
Serpinb10 C T 1: 107,538,473 (GRCm38) S63F probably damaging Het
Serpinb2 A C 1: 107,524,543 (GRCm38) S284R probably benign Het
Serpinb2 C T 1: 107,523,894 (GRCm38) T259I probably benign Het
Serpinb2 C T 1: 107,523,890 (GRCm38) H258Y probably benign Het
Serpinb2 C A 1: 107,523,834 (GRCm38) A239E probably benign Het
Serpinb2 G A 1: 107,515,635 (GRCm38) A55T probably damaging Het
Serpinb8 A C 1: 107,607,004 (GRCm38) L268F probably benign Het
Serpinb8 G A 1: 107,598,954 (GRCm38) A75T probably benign Het
Serpinb8 A G 1: 107,597,527 (GRCm38) S20G probably benign Het
Sis A T 3: 72,965,645 (GRCm38) C53* probably null Het
Slc13a5 C T 11: 72,266,459 (GRCm38) probably null Het
Slc26a9 C A 1: 131,766,012 (GRCm38) R747S probably benign Het
Slc26a9 C T 1: 131,763,870 (GRCm38) A617V probably benign Het
Slc9a8 T C 2: 167,424,145 (GRCm38) F14S probably benign Het
Spock3 T C 8: 63,348,977 (GRCm38) L330P probably damaging Het
Stab2 T G 10: 86,938,039 (GRCm38) R809S probably benign Het
Steap3 G A 1: 120,234,378 (GRCm38) A350V probably benign Het
Steap3 T C 1: 120,227,750 (GRCm38) N493S probably benign Het
Tecta G A 9: 42,391,922 (GRCm38) T138I probably benign Het
Thsd7b A C 1: 130,116,631 (GRCm38) Q1116P probably benign Het
Thsd7b G C 1: 129,678,183 (GRCm38) A554P probably benign Het
Thsd7b T A 1: 129,667,937 (GRCm38) F498Y probably benign Het
Thsd7b C T 1: 129,628,891 (GRCm38) T328I probably damaging Het
Tnnt2 C T 1: 135,845,506 (GRCm38) probably benign Het
Traf7 A G 17: 24,512,379 (GRCm38) F228L probably damaging Het
Trhr A G 15: 44,197,153 (GRCm38) E23G probably damaging Het
Trove2 C T 1: 143,760,014 (GRCm38) V465I probably benign Het
Trove2 T C 1: 143,760,034 (GRCm38) D458G probably benign Het
Ttn C T 2: 76,813,339 (GRCm38) G11436R probably damaging Het
Tubgcp2 T C 7: 139,998,055 (GRCm38) T779A probably benign Het
Tusc2 A T 9: 107,564,631 (GRCm38) I68F probably damaging Het
Ube2t C T 1: 134,972,167 (GRCm38) A149V probably benign Het
Upf2 A T 2: 6,027,450 (GRCm38) S191C probably damaging Het
Usp24 A G 4: 106,360,421 (GRCm38) N447S possibly damaging Het
Usp42 T C 5: 143,714,626 (GRCm38) D1214G probably damaging Het
Vcam1 T A 3: 116,114,515 (GRCm38) I633L probably benign Het
Vmn2r73 T C 7: 85,857,878 (GRCm38) Y742C probably damaging Het
Vmn2r81 C A 10: 79,270,655 (GRCm38) T489K probably benign Het
Zan C A 5: 137,415,018 (GRCm38) probably benign Het
Zc3h11a G A 1: 133,622,154 (GRCm38) P695S probably benign Het
Zc3h11a C T 1: 133,624,621 (GRCm38) V583I probably benign Het
Zfp616 A C 11: 74,085,771 (GRCm38) K955N probably damaging Het
Zfyve9 A C 4: 108,718,501 (GRCm38) V461G possibly damaging Het
Zp3r C A 1: 130,619,414 (GRCm38) E8D possibly damaging Het
Zp3r A G 1: 130,596,814 (GRCm38) L164P probably benign Het
Other mutations in Kmt2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Kmt2d APN 15 98,862,333 (GRCm38) missense unknown
IGL00927:Kmt2d APN 15 98,845,009 (GRCm38) unclassified probably benign
IGL01123:Kmt2d APN 15 98,837,148 (GRCm38) missense unknown
IGL01288:Kmt2d APN 15 98,865,044 (GRCm38) missense probably damaging 1.00
IGL01538:Kmt2d APN 15 98,860,657 (GRCm38) unclassified probably benign
IGL01575:Kmt2d APN 15 98,846,855 (GRCm38) utr 3 prime probably benign
IGL01584:Kmt2d APN 15 98,856,369 (GRCm38) unclassified probably benign
IGL01750:Kmt2d APN 15 98,853,168 (GRCm38) unclassified probably benign
IGL02163:Kmt2d APN 15 98,835,228 (GRCm38) unclassified probably benign
IGL02209:Kmt2d APN 15 98,854,567 (GRCm38) unclassified probably benign
IGL02253:Kmt2d APN 15 98,858,175 (GRCm38) unclassified probably benign
IGL02271:Kmt2d APN 15 98,866,428 (GRCm38) missense possibly damaging 0.89
IGL02291:Kmt2d APN 15 98,865,492 (GRCm38) splice site probably benign
IGL02448:Kmt2d APN 15 98,844,110 (GRCm38) unclassified probably benign
IGL02472:Kmt2d APN 15 98,850,077 (GRCm38) missense probably benign 0.23
IGL02496:Kmt2d APN 15 98,857,558 (GRCm38) unclassified probably benign
IGL02527:Kmt2d APN 15 98,841,747 (GRCm38) unclassified probably benign
IGL02576:Kmt2d APN 15 98,864,120 (GRCm38) missense unknown
IGL02597:Kmt2d APN 15 98,863,831 (GRCm38) missense unknown
IGL02609:Kmt2d APN 15 98,851,793 (GRCm38) unclassified probably benign
IGL03085:Kmt2d APN 15 98,839,940 (GRCm38) unclassified probably benign
IGL03102:Kmt2d APN 15 98,855,543 (GRCm38) missense probably benign
IGL03123:Kmt2d APN 15 98,861,771 (GRCm38) missense unknown
G1citation:Kmt2d UTSW 15 98,849,459 (GRCm38) unclassified probably benign
R0091:Kmt2d UTSW 15 98,844,479 (GRCm38) unclassified probably benign
R0136:Kmt2d UTSW 15 98,854,278 (GRCm38) unclassified probably benign
R0243:Kmt2d UTSW 15 98,850,137 (GRCm38) unclassified probably benign
R0276:Kmt2d UTSW 15 98,850,311 (GRCm38) unclassified probably benign
R0477:Kmt2d UTSW 15 98,853,581 (GRCm38) unclassified probably benign
R0478:Kmt2d UTSW 15 98,853,581 (GRCm38) unclassified probably benign
R0586:Kmt2d UTSW 15 98,835,207 (GRCm38) unclassified probably benign
R0632:Kmt2d UTSW 15 98,853,581 (GRCm38) unclassified probably benign
R0678:Kmt2d UTSW 15 98,850,413 (GRCm38) unclassified probably benign
R0780:Kmt2d UTSW 15 98,862,857 (GRCm38) missense unknown
R0891:Kmt2d UTSW 15 98,852,691 (GRCm38) unclassified probably benign
R1136:Kmt2d UTSW 15 98,857,765 (GRCm38) unclassified probably benign
R1417:Kmt2d UTSW 15 98,866,430 (GRCm38) missense probably damaging 0.99
R1499:Kmt2d UTSW 15 98,844,938 (GRCm38) unclassified probably benign
R1510:Kmt2d UTSW 15 98,856,377 (GRCm38) unclassified probably benign
R1586:Kmt2d UTSW 15 98,865,053 (GRCm38) splice site probably benign
R1640:Kmt2d UTSW 15 98,845,057 (GRCm38) unclassified probably benign
R1714:Kmt2d UTSW 15 98,862,950 (GRCm38) missense unknown
R1725:Kmt2d UTSW 15 98,845,234 (GRCm38) unclassified probably benign
R1729:Kmt2d UTSW 15 98,865,132 (GRCm38) missense probably damaging 1.00
R1741:Kmt2d UTSW 15 98,845,234 (GRCm38) unclassified probably benign
R1744:Kmt2d UTSW 15 98,865,047 (GRCm38) missense probably damaging 0.99
R1746:Kmt2d UTSW 15 98,864,378 (GRCm38) missense probably damaging 0.97
R1753:Kmt2d UTSW 15 98,843,482 (GRCm38) unclassified probably benign
R1782:Kmt2d UTSW 15 98,857,548 (GRCm38) unclassified probably benign
R1789:Kmt2d UTSW 15 98,852,074 (GRCm38) unclassified probably benign
R1802:Kmt2d UTSW 15 98,862,985 (GRCm38) missense unknown
R1808:Kmt2d UTSW 15 98,866,686 (GRCm38) missense probably damaging 1.00
R1822:Kmt2d UTSW 15 98,861,780 (GRCm38) missense unknown
R1831:Kmt2d UTSW 15 98,855,343 (GRCm38) missense probably damaging 0.97
R1920:Kmt2d UTSW 15 98,855,591 (GRCm38) missense probably damaging 1.00
R1920:Kmt2d UTSW 15 98,855,590 (GRCm38) missense probably damaging 0.96
R1956:Kmt2d UTSW 15 98,859,590 (GRCm38) unclassified probably benign
R2100:Kmt2d UTSW 15 98,846,480 (GRCm38) unclassified probably benign
R2120:Kmt2d UTSW 15 98,839,529 (GRCm38) unclassified probably benign
R2188:Kmt2d UTSW 15 98,839,300 (GRCm38) unclassified probably benign
R2191:Kmt2d UTSW 15 98,861,049 (GRCm38) critical splice donor site probably null
R2234:Kmt2d UTSW 15 98,865,248 (GRCm38) missense probably damaging 0.98
R2422:Kmt2d UTSW 15 98,862,266 (GRCm38) missense unknown
R2762:Kmt2d UTSW 15 98,852,055 (GRCm38) unclassified probably benign
R2895:Kmt2d UTSW 15 98,843,939 (GRCm38) unclassified probably benign
R3624:Kmt2d UTSW 15 98,842,902 (GRCm38) unclassified probably benign
R3791:Kmt2d UTSW 15 98,844,149 (GRCm38) unclassified probably benign
R3794:Kmt2d UTSW 15 98,837,359 (GRCm38) unclassified probably benign
R3871:Kmt2d UTSW 15 98,851,021 (GRCm38) unclassified probably benign
R3958:Kmt2d UTSW 15 98,855,549 (GRCm38) missense possibly damaging 0.69
R3983:Kmt2d UTSW 15 98,846,046 (GRCm38) unclassified probably benign
R4211:Kmt2d UTSW 15 98,840,189 (GRCm38) unclassified probably benign
R4212:Kmt2d UTSW 15 98,845,003 (GRCm38) unclassified probably benign
R4240:Kmt2d UTSW 15 98,844,571 (GRCm38) unclassified probably benign
R4246:Kmt2d UTSW 15 98,840,089 (GRCm38) unclassified probably benign
R4361:Kmt2d UTSW 15 98,863,670 (GRCm38) missense unknown
R4388:Kmt2d UTSW 15 98,853,626 (GRCm38) unclassified probably benign
R4602:Kmt2d UTSW 15 98,850,259 (GRCm38) unclassified probably benign
R4606:Kmt2d UTSW 15 98,839,716 (GRCm38) unclassified probably benign
R4658:Kmt2d UTSW 15 98,852,529 (GRCm38) unclassified probably benign
R4840:Kmt2d UTSW 15 98,861,894 (GRCm38) missense unknown
R4895:Kmt2d UTSW 15 98,844,487 (GRCm38) unclassified probably benign
R4906:Kmt2d UTSW 15 98,849,539 (GRCm38) unclassified probably benign
R4976:Kmt2d UTSW 15 98,847,194 (GRCm38) utr 3 prime probably benign
R5093:Kmt2d UTSW 15 98,856,162 (GRCm38) missense probably damaging 1.00
R5119:Kmt2d UTSW 15 98,847,194 (GRCm38) utr 3 prime probably benign
R5160:Kmt2d UTSW 15 98,840,224 (GRCm38) unclassified probably benign
R5260:Kmt2d UTSW 15 98,842,860 (GRCm38) unclassified probably benign
R5274:Kmt2d UTSW 15 98,854,230 (GRCm38) unclassified probably benign
R5450:Kmt2d UTSW 15 98,855,086 (GRCm38) missense probably damaging 1.00
R5461:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5462:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5463:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5465:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5467:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5481:Kmt2d UTSW 15 98,862,005 (GRCm38) missense unknown
R5509:Kmt2d UTSW 15 98,839,676 (GRCm38) unclassified probably benign
R5534:Kmt2d UTSW 15 98,837,357 (GRCm38) unclassified probably benign
R5536:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5537:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5538:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5546:Kmt2d UTSW 15 98,853,068 (GRCm38) unclassified probably benign
R5595:Kmt2d UTSW 15 98,850,024 (GRCm38) unclassified probably benign
R5645:Kmt2d UTSW 15 98,844,397 (GRCm38) unclassified probably benign
R5679:Kmt2d UTSW 15 98,854,272 (GRCm38) unclassified probably benign
R5710:Kmt2d UTSW 15 98,854,106 (GRCm38) unclassified probably benign
R5755:Kmt2d UTSW 15 98,863,646 (GRCm38) missense unknown
R5817:Kmt2d UTSW 15 98,862,363 (GRCm38) missense unknown
R5841:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5842:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5843:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5844:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R5845:Kmt2d UTSW 15 98,852,109 (GRCm38) unclassified probably benign
R6122:Kmt2d UTSW 15 98,860,692 (GRCm38) unclassified probably benign
R6612:Kmt2d UTSW 15 98,845,858 (GRCm38) unclassified probably benign
R6718:Kmt2d UTSW 15 98,849,586 (GRCm38) unclassified probably benign
R6718:Kmt2d UTSW 15 98,850,539 (GRCm38) unclassified probably benign
R6822:Kmt2d UTSW 15 98,849,459 (GRCm38) unclassified probably benign
R6866:Kmt2d UTSW 15 98,857,393 (GRCm38) unclassified probably benign
R6950:Kmt2d UTSW 15 98,840,020 (GRCm38) unclassified probably benign
R7089:Kmt2d UTSW 15 98,850,272 (GRCm38) missense unknown
R7120:Kmt2d UTSW 15 98,861,065 (GRCm38) missense unknown
R7131:Kmt2d UTSW 15 98,849,616 (GRCm38) unclassified probably benign
R7177:Kmt2d UTSW 15 98,850,386 (GRCm38) missense unknown
R7194:Kmt2d UTSW 15 98,843,833 (GRCm38) missense unknown
R7252:Kmt2d UTSW 15 98,844,266 (GRCm38) missense unknown
R7282:Kmt2d UTSW 15 98,854,104 (GRCm38) missense unknown
R7307:Kmt2d UTSW 15 98,849,418 (GRCm38) missense unknown
R7313:Kmt2d UTSW 15 98,856,623 (GRCm38) missense unknown
R7394:Kmt2d UTSW 15 98,856,384 (GRCm38) missense unknown
R7404:Kmt2d UTSW 15 98,845,495 (GRCm38) missense unknown
R7409:Kmt2d UTSW 15 98,855,354 (GRCm38) missense probably damaging 1.00
R7414:Kmt2d UTSW 15 98,839,856 (GRCm38) missense unknown
R7534:Kmt2d UTSW 15 98,852,018 (GRCm38) missense unknown
R7575:Kmt2d UTSW 15 98,849,611 (GRCm38) unclassified probably benign
R7650:Kmt2d UTSW 15 98,850,870 (GRCm38) missense unknown
R7687:Kmt2d UTSW 15 98,862,120 (GRCm38) missense unknown
R7699:Kmt2d UTSW 15 98,843,719 (GRCm38) missense unknown
R7700:Kmt2d UTSW 15 98,843,719 (GRCm38) missense unknown
R7765:Kmt2d UTSW 15 98,852,334 (GRCm38) missense unknown
R7797:Kmt2d UTSW 15 98,864,406 (GRCm38) missense probably benign 0.24
R7803:Kmt2d UTSW 15 98,862,923 (GRCm38) missense unknown
R7952:Kmt2d UTSW 15 98,850,768 (GRCm38) missense unknown
R8054:Kmt2d UTSW 15 98,843,925 (GRCm38) missense unknown
R8084:Kmt2d UTSW 15 98,842,064 (GRCm38) missense unknown
R8089:Kmt2d UTSW 15 98,842,869 (GRCm38) missense unknown
R8133:Kmt2d UTSW 15 98,864,942 (GRCm38) missense probably damaging 1.00
R8138:Kmt2d UTSW 15 98,843,653 (GRCm38) missense unknown
R8343:Kmt2d UTSW 15 98,852,597 (GRCm38) missense unknown
R8681:Kmt2d UTSW 15 98,846,067 (GRCm38) missense unknown
R8694:Kmt2d UTSW 15 98,844,734 (GRCm38) missense unknown
R8837:Kmt2d UTSW 15 98,864,167 (GRCm38) missense unknown
R8855:Kmt2d UTSW 15 98,856,356 (GRCm38) missense unknown
R8934:Kmt2d UTSW 15 98,861,886 (GRCm38) missense unknown
R9100:Kmt2d UTSW 15 98,849,951 (GRCm38) missense unknown
R9158:Kmt2d UTSW 15 98,843,139 (GRCm38) missense unknown
R9190:Kmt2d UTSW 15 98,852,015 (GRCm38) missense unknown
R9222:Kmt2d UTSW 15 98,849,443 (GRCm38) missense unknown
R9263:Kmt2d UTSW 15 98,849,618 (GRCm38) frame shift probably null
R9336:Kmt2d UTSW 15 98,845,816 (GRCm38) missense unknown
R9397:Kmt2d UTSW 15 98,850,113 (GRCm38) missense unknown
R9415:Kmt2d UTSW 15 98,839,705 (GRCm38) missense unknown
R9482:Kmt2d UTSW 15 98,865,165 (GRCm38) missense probably damaging 1.00
R9529:Kmt2d UTSW 15 98,839,768 (GRCm38) missense unknown
R9610:Kmt2d UTSW 15 98,845,176 (GRCm38) unclassified probably benign
R9611:Kmt2d UTSW 15 98,845,176 (GRCm38) unclassified probably benign
R9611:Kmt2d UTSW 15 98,845,173 (GRCm38) unclassified probably benign
R9612:Kmt2d UTSW 15 98,845,176 (GRCm38) unclassified probably benign
R9613:Kmt2d UTSW 15 98,845,176 (GRCm38) unclassified probably benign
R9644:Kmt2d UTSW 15 98,845,504 (GRCm38) missense unknown
R9716:Kmt2d UTSW 15 98,843,402 (GRCm38) missense unknown
R9763:Kmt2d UTSW 15 98,845,176 (GRCm38) unclassified probably benign
R9782:Kmt2d UTSW 15 98,866,716 (GRCm38) missense probably damaging 1.00
X0018:Kmt2d UTSW 15 98,852,922 (GRCm38) unclassified probably benign
X0024:Kmt2d UTSW 15 98,853,053 (GRCm38) unclassified probably benign
X0062:Kmt2d UTSW 15 98,849,819 (GRCm38) unclassified probably benign
Z1187:Kmt2d UTSW 15 98,851,744 (GRCm38) missense unknown
Z1188:Kmt2d UTSW 15 98,851,744 (GRCm38) missense unknown
Z1189:Kmt2d UTSW 15 98,851,744 (GRCm38) missense unknown
Z1190:Kmt2d UTSW 15 98,851,744 (GRCm38) missense unknown
Z1192:Kmt2d UTSW 15 98,851,744 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- GTCCTCCATAGGCGGTTTTAAGCAG -3'
(R):5'- AGCGTGCCTTTGGTTTTAGTACTCC -3'

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