Incidental Mutation 'R2049:Kmt2c'
ID 226210
Institutional Source Beutler Lab
Gene Symbol Kmt2c
Ensembl Gene ENSMUSG00000038056
Gene Name lysine (K)-specific methyltransferase 2C
Synonyms Mll3, E330008K23Rik, HALR
MMRRC Submission 040056-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2049 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 25271798-25498783 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25285079 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 4287 (Q4287H)
Ref Sequence ENSEMBL: ENSMUSP00000043874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045291] [ENSMUST00000174734]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000045291
AA Change: Q4287H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043874
Gene: ENSMUSG00000038056
AA Change: Q4287H

DomainStartEndE-ValueType
low complexity region 9 32 N/A INTRINSIC
AT_hook 34 46 9.68e-1 SMART
low complexity region 73 87 N/A INTRINSIC
PHD 283 330 2.56e-2 SMART
C1 329 384 5.45e-1 SMART
PHD 342 388 4.19e-7 SMART
RING 343 387 1.45e-1 SMART
PHD 389 435 4.77e-11 SMART
RING 390 434 1.46e0 SMART
PHD 465 517 8.25e-6 SMART
low complexity region 776 789 N/A INTRINSIC
AT_hook 898 910 1.41e2 SMART
PHD 953 1002 2.89e-10 SMART
RING 954 1001 4.74e0 SMART
C1 994 1045 8.38e-2 SMART
PHD 1003 1049 1.05e-12 SMART
PHD 1080 1131 2.08e-2 SMART
low complexity region 1189 1201 N/A INTRINSIC
low complexity region 1337 1348 N/A INTRINSIC
low complexity region 1394 1406 N/A INTRINSIC
low complexity region 1431 1442 N/A INTRINSIC
low complexity region 1520 1539 N/A INTRINSIC
low complexity region 1557 1570 N/A INTRINSIC
HMG 1639 1703 2.64e-3 SMART
low complexity region 1708 1724 N/A INTRINSIC
coiled coil region 1745 1789 N/A INTRINSIC
low complexity region 1847 1860 N/A INTRINSIC
low complexity region 1864 1891 N/A INTRINSIC
internal_repeat_3 1893 2084 1.27e-14 PROSPERO
internal_repeat_3 2123 2306 1.27e-14 PROSPERO
low complexity region 2336 2348 N/A INTRINSIC
low complexity region 2375 2394 N/A INTRINSIC
low complexity region 2427 2440 N/A INTRINSIC
low complexity region 2516 2527 N/A INTRINSIC
low complexity region 2696 2720 N/A INTRINSIC
low complexity region 2723 2742 N/A INTRINSIC
low complexity region 2930 2943 N/A INTRINSIC
coiled coil region 3048 3075 N/A INTRINSIC
low complexity region 3156 3165 N/A INTRINSIC
low complexity region 3173 3195 N/A INTRINSIC
coiled coil region 3226 3270 N/A INTRINSIC
low complexity region 3277 3290 N/A INTRINSIC
coiled coil region 3389 3427 N/A INTRINSIC
low complexity region 3460 3486 N/A INTRINSIC
low complexity region 3597 3611 N/A INTRINSIC
low complexity region 3649 3667 N/A INTRINSIC
low complexity region 3769 3783 N/A INTRINSIC
low complexity region 3822 3827 N/A INTRINSIC
low complexity region 3860 3869 N/A INTRINSIC
low complexity region 3887 3904 N/A INTRINSIC
low complexity region 3994 4009 N/A INTRINSIC
low complexity region 4015 4038 N/A INTRINSIC
low complexity region 4293 4309 N/A INTRINSIC
low complexity region 4412 4419 N/A INTRINSIC
PHD 4454 4500 2.94e-2 SMART
RING 4455 4499 8.1e0 SMART
FYRN 4554 4597 1.18e-21 SMART
FYRC 4603 4690 4.54e-32 SMART
SET 4764 4886 3.17e-34 SMART
PostSET 4888 4904 1.82e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000172556
AA Change: Q1134H
SMART Domains Protein: ENSMUSP00000133941
Gene: ENSMUSG00000038056
AA Change: Q1134H

DomainStartEndE-ValueType
SCOP:d2spca_ 84 177 1e-3 SMART
low complexity region 196 209 N/A INTRINSIC
coiled coil region 307 345 N/A INTRINSIC
low complexity region 379 405 N/A INTRINSIC
low complexity region 516 530 N/A INTRINSIC
low complexity region 568 586 N/A INTRINSIC
low complexity region 688 702 N/A INTRINSIC
low complexity region 735 752 N/A INTRINSIC
low complexity region 842 857 N/A INTRINSIC
low complexity region 863 886 N/A INTRINSIC
low complexity region 1141 1157 N/A INTRINSIC
low complexity region 1260 1267 N/A INTRINSIC
PHD 1302 1348 2.94e-2 SMART
FYRN 1402 1445 1.18e-21 SMART
FYRC 1451 1538 4.54e-32 SMART
SET 1608 1730 3.17e-34 SMART
PostSET 1732 1748 1.82e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173673
Predicted Effect probably benign
Transcript: ENSMUST00000174734
AA Change: Q907H

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133482
Gene: ENSMUSG00000038056
AA Change: Q907H

DomainStartEndE-ValueType
low complexity region 49 75 N/A INTRINSIC
low complexity region 186 200 N/A INTRINSIC
low complexity region 238 256 N/A INTRINSIC
low complexity region 358 372 N/A INTRINSIC
low complexity region 411 416 N/A INTRINSIC
low complexity region 449 458 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
low complexity region 635 658 N/A INTRINSIC
low complexity region 913 929 N/A INTRINSIC
low complexity region 1032 1039 N/A INTRINSIC
PHD 1074 1120 2.94e-2 SMART
FYRN 1174 1217 1.18e-21 SMART
FYRC 1223 1310 4.54e-32 SMART
SET 1384 1506 3.17e-34 SMART
PostSET 1508 1524 1.82e-6 SMART
Meta Mutation Damage Score 0.0809 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (118/122)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,584,987 (GRCm38) R8* probably null Het
Abhd17a A G 10: 80,585,606 (GRCm38) probably null Het
Acsm1 A G 7: 119,656,039 (GRCm38) R415G probably damaging Het
Acta1 G T 8: 123,892,064 (GRCm38) T360N probably benign Het
Adam6a T A 12: 113,544,429 (GRCm38) S141T probably benign Het
Adgrd1 G T 5: 129,115,095 (GRCm38) K76N probably benign Het
Afdn A G 17: 13,810,433 (GRCm38) E202G probably damaging Het
Agps T A 2: 75,858,926 (GRCm38) M156K probably benign Het
Agxt A G 1: 93,137,315 (GRCm38) I149V probably benign Het
Aqp2 A G 15: 99,579,366 (GRCm38) T72A probably damaging Het
Arhgap18 T A 10: 26,849,942 (GRCm38) D54E probably benign Het
Asb8 C A 15: 98,136,069 (GRCm38) E202* probably null Het
Bmp5 A G 9: 75,893,790 (GRCm38) I401V probably damaging Het
Bscl2 T C 19: 8,845,320 (GRCm38) probably null Het
Capn9 G A 8: 124,605,711 (GRCm38) G430R possibly damaging Het
Cd55 C T 1: 130,449,423 (GRCm38) V333I probably benign Het
Cep112 A G 11: 108,606,325 (GRCm38) E697G probably damaging Het
Cerk G A 15: 86,142,808 (GRCm38) S167L probably benign Het
Chrm3 T A 13: 9,878,335 (GRCm38) I222F probably damaging Het
Clcn6 A G 4: 148,024,137 (GRCm38) F145S possibly damaging Het
Cnksr1 A G 4: 134,229,628 (GRCm38) Y488H probably damaging Het
Cntrl CAGAG CAG 2: 35,122,806 (GRCm38) probably null Het
Commd10 A T 18: 46,963,747 (GRCm38) T74S probably benign Het
Cyp4f39 T C 17: 32,482,138 (GRCm38) F201L probably benign Het
Dennd4a A G 9: 64,889,605 (GRCm38) T860A possibly damaging Het
Dlg5 A T 14: 24,154,647 (GRCm38) I1253N probably damaging Het
Dnah7b T A 1: 46,268,670 (GRCm38) M3048K probably damaging Het
Dnah9 A G 11: 66,044,683 (GRCm38) M1970T probably damaging Het
Doxl2 T A 6: 48,977,755 (GRCm38) L609* probably null Het
Dsc3 A T 18: 19,989,680 (GRCm38) D62E possibly damaging Het
Dsel T C 1: 111,859,457 (GRCm38) N1116S probably benign Het
Dusp7 C T 9: 106,373,897 (GRCm38) T407M probably damaging Het
Efnb1 A G X: 99,147,517 (GRCm38) Y343C probably damaging Het
Entpd5 A G 12: 84,396,858 (GRCm38) I12T probably benign Het
Espn T C 4: 152,121,257 (GRCm38) E408G probably damaging Het
Fam160a2 A T 7: 105,389,839 (GRCm38) D64E probably damaging Het
Gdpd3 A G 7: 126,768,594 (GRCm38) T200A probably damaging Het
Gli1 A G 10: 127,336,727 (GRCm38) L182P probably damaging Het
Gm4907 T A X: 23,907,310 (GRCm38) V350E probably benign Het
Gm5134 G A 10: 76,004,884 (GRCm38) A521T possibly damaging Het
Gm8300 A G 12: 87,517,276 (GRCm38) D127G unknown Het
Gm960 A G 19: 4,698,605 (GRCm38) probably benign Het
Gprasp1 G A X: 135,802,042 (GRCm38) E995K possibly damaging Het
H2-M10.1 T C 17: 36,325,216 (GRCm38) D153G possibly damaging Het
Helb A T 10: 120,106,021 (GRCm38) M254K possibly damaging Het
I0C0044D17Rik A G 4: 98,820,296 (GRCm38) probably benign Het
Igfn1 T A 1: 135,970,638 (GRCm38) Q730L probably benign Het
Igfn1 AGGG AGG 1: 135,974,852 (GRCm38) probably benign Het
Ipo9 A G 1: 135,402,250 (GRCm38) V484A probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,386,268 (GRCm38) probably benign Het
Jmjd1c T A 10: 67,157,998 (GRCm38) L86* probably null Het
Kat5 T A 19: 5,605,685 (GRCm38) probably null Het
Kif14 A G 1: 136,510,167 (GRCm38) E1199G possibly damaging Het
Kif14 A G 1: 136,487,080 (GRCm38) N768S probably benign Het
Klhl29 A G 12: 5,137,876 (GRCm38) S163P probably damaging Het
Krt82 T A 15: 101,545,156 (GRCm38) Q265L probably damaging Het
Macf1 C T 4: 123,355,102 (GRCm38) C7210Y probably damaging Het
Mx2 G A 16: 97,538,703 (GRCm38) E20K probably benign Het
Myom2 T G 8: 15,106,379 (GRCm38) I742S probably damaging Het
Narf A T 11: 121,250,369 (GRCm38) R310* probably null Het
Nktr T A 9: 121,741,694 (GRCm38) D167E probably damaging Het
Nle1 A G 11: 82,905,366 (GRCm38) W183R probably damaging Het
Npas3 A G 12: 54,062,088 (GRCm38) N425S probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Olfr1197 A T 2: 88,728,745 (GRCm38) Y285N probably damaging Het
Olfr1240 C T 2: 89,439,583 (GRCm38) R232H probably benign Het
Olfr283 G A 15: 98,378,396 (GRCm38) T238I possibly damaging Het
Olfr816 A G 10: 129,912,167 (GRCm38) V37A probably benign Het
Olfr965 A T 9: 39,720,115 (GRCm38) D296V probably damaging Het
Olfr984 T A 9: 40,101,119 (GRCm38) I124L probably benign Het
Optc A T 1: 133,903,796 (GRCm38) probably null Het
Otol1 T A 3: 70,018,836 (GRCm38) F115I probably benign Het
Parp8 T A 13: 116,894,886 (GRCm38) D430V probably benign Het
Pex7 T A 10: 19,894,315 (GRCm38) H123L probably damaging Het
Pkhd1l1 G A 15: 44,581,741 (GRCm38) D3670N probably damaging Het
Pkhd1l1 T A 15: 44,547,513 (GRCm38) probably benign Het
Plec T C 15: 76,183,174 (GRCm38) T1331A probably benign Het
Plekha4 A G 7: 45,553,798 (GRCm38) D704G probably benign Het
Plxnb2 T A 15: 89,159,002 (GRCm38) N1453I probably damaging Het
Pms1 T A 1: 53,281,988 (GRCm38) I29F probably damaging Het
Ppp1r1a G A 15: 103,531,406 (GRCm38) T153I probably damaging Het
Pramef8 T A 4: 143,416,871 (GRCm38) L69Q probably damaging Het
Prelp C T 1: 133,915,131 (GRCm38) R92K probably benign Het
Ptpre A G 7: 135,670,695 (GRCm38) probably benign Het
Ptprt A T 2: 161,534,545 (GRCm38) I1312N probably damaging Het
Ren1 C G 1: 133,350,778 (GRCm38) probably null Het
Rims1 C T 1: 22,596,435 (GRCm38) C155Y probably damaging Het
Slitrk6 T G 14: 110,750,794 (GRCm38) T494P probably benign Het
Sltm G A 9: 70,581,301 (GRCm38) G578S probably benign Het
Smyd5 A G 6: 85,444,318 (GRCm38) E338G probably benign Het
Snx2 G A 18: 53,194,444 (GRCm38) V81M probably damaging Het
Sp2 G T 11: 96,961,365 (GRCm38) N244K probably benign Het
Sspo C A 6: 48,460,763 (GRCm38) probably benign Het
Sspo A C 6: 48,463,531 (GRCm38) D1568A probably benign Het
Ssrp1 T C 2: 85,041,427 (GRCm38) probably benign Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,746,741 (GRCm38) probably benign Het
Syt7 G A 19: 10,439,213 (GRCm38) R138Q probably benign Het
Taar7f T C 10: 24,050,425 (GRCm38) Y306H possibly damaging Het
Tbccd1 T C 16: 22,818,541 (GRCm38) probably null Het
Tex261 A G 6: 83,772,259 (GRCm38) Y119H probably damaging Het
Tmem131l T G 3: 83,942,788 (GRCm38) E234D probably damaging Het
Tnnt2 TG TGG 1: 135,846,761 (GRCm38) 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
Ubap1 C T 4: 41,379,257 (GRCm38) A157V probably damaging Het
Ubr4 C T 4: 139,477,207 (GRCm38) T4810M probably damaging Het
Uso1 G A 5: 92,181,936 (GRCm38) G427R probably damaging Het
Usp15 A T 10: 123,119,137 (GRCm38) V912D probably damaging Het
Vmn1r20 T C 6: 57,431,958 (GRCm38) S90P probably damaging Het
Vmn1r32 T C 6: 66,553,561 (GRCm38) K77R probably damaging Het
Vmn2r100 A G 17: 19,522,050 (GRCm38) K229E probably benign Het
Vmn2r106 A G 17: 20,268,304 (GRCm38) V611A possibly damaging Het
Xrcc6 T A 15: 82,022,977 (GRCm38) F167I probably damaging Het
Zbtb21 G T 16: 97,950,155 (GRCm38) P804H probably damaging Het
Zdhhc3 T C 9: 123,100,537 (GRCm38) D11G probably damaging Het
Zfhx3 A G 8: 108,945,177 (GRCm38) T1324A probably benign Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,625,353 (GRCm38) probably benign Het
Zfp608 G T 18: 54,895,565 (GRCm38) L1259I probably damaging Het
Other mutations in Kmt2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Kmt2c APN 5 25,281,261 (GRCm38) missense probably damaging 0.99
IGL00694:Kmt2c APN 5 25,293,161 (GRCm38) missense probably damaging 0.99
IGL00780:Kmt2c APN 5 25,311,051 (GRCm38) missense probably benign 0.00
IGL00811:Kmt2c APN 5 25,374,533 (GRCm38) missense possibly damaging 0.75
IGL00885:Kmt2c APN 5 25,409,171 (GRCm38) missense possibly damaging 0.80
IGL00948:Kmt2c APN 5 25,377,161 (GRCm38) missense probably benign 0.08
IGL00959:Kmt2c APN 5 25,276,229 (GRCm38) missense probably damaging 1.00
IGL01022:Kmt2c APN 5 25,302,701 (GRCm38) unclassified probably benign
IGL01146:Kmt2c APN 5 25,308,512 (GRCm38) missense probably damaging 0.96
IGL01154:Kmt2c APN 5 25,284,399 (GRCm38) missense probably damaging 1.00
IGL01434:Kmt2c APN 5 25,409,308 (GRCm38) missense probably damaging 1.00
IGL01464:Kmt2c APN 5 25,352,244 (GRCm38) missense possibly damaging 0.90
IGL01525:Kmt2c APN 5 25,329,441 (GRCm38) splice site probably benign
IGL01530:Kmt2c APN 5 25,313,500 (GRCm38) missense probably benign 0.08
IGL01550:Kmt2c APN 5 25,281,276 (GRCm38) missense probably damaging 1.00
IGL01598:Kmt2c APN 5 25,273,666 (GRCm38) makesense probably null
IGL01598:Kmt2c APN 5 25,354,771 (GRCm38) missense probably damaging 1.00
IGL01608:Kmt2c APN 5 25,354,811 (GRCm38) missense probably damaging 0.97
IGL01663:Kmt2c APN 5 25,310,670 (GRCm38) missense probably damaging 1.00
IGL01707:Kmt2c APN 5 25,300,098 (GRCm38) missense probably damaging 1.00
IGL01714:Kmt2c APN 5 25,313,400 (GRCm38) missense probably benign
IGL01784:Kmt2c APN 5 25,313,526 (GRCm38) missense probably damaging 1.00
IGL01813:Kmt2c APN 5 25,290,804 (GRCm38) missense possibly damaging 0.82
IGL01825:Kmt2c APN 5 25,310,596 (GRCm38) missense probably damaging 1.00
IGL01834:Kmt2c APN 5 25,395,455 (GRCm38) missense probably benign 0.05
IGL02072:Kmt2c APN 5 25,405,432 (GRCm38) missense possibly damaging 0.96
IGL02159:Kmt2c APN 5 25,311,343 (GRCm38) missense probably benign 0.18
IGL02303:Kmt2c APN 5 25,310,157 (GRCm38) missense probably damaging 0.96
IGL02417:Kmt2c APN 5 25,373,020 (GRCm38) missense probably benign
IGL02578:Kmt2c APN 5 25,366,200 (GRCm38) intron probably benign
IGL02811:Kmt2c APN 5 25,315,028 (GRCm38) nonsense probably null
IGL02943:Kmt2c APN 5 25,290,823 (GRCm38) missense probably damaging 1.00
IGL03000:Kmt2c APN 5 25,284,172 (GRCm38) missense probably damaging 1.00
IGL03040:Kmt2c APN 5 25,310,352 (GRCm38) missense probably benign
IGL03076:Kmt2c APN 5 25,299,151 (GRCm38) nonsense probably null
IGL03088:Kmt2c APN 5 25,299,804 (GRCm38) missense probably damaging 0.99
IGL03131:Kmt2c APN 5 25,315,361 (GRCm38) missense probably benign 0.00
FR4304:Kmt2c UTSW 5 25,315,766 (GRCm38) small insertion probably benign
FR4976:Kmt2c UTSW 5 25,315,763 (GRCm38) small insertion probably benign
PIT4520001:Kmt2c UTSW 5 25,315,666 (GRCm38) missense probably benign 0.12
PIT4585001:Kmt2c UTSW 5 25,315,106 (GRCm38) missense probably benign 0.21
R0313:Kmt2c UTSW 5 25,344,930 (GRCm38) missense probably damaging 1.00
R0374:Kmt2c UTSW 5 25,309,708 (GRCm38) missense probably damaging 1.00
R0411:Kmt2c UTSW 5 25,375,957 (GRCm38) missense probably damaging 1.00
R0422:Kmt2c UTSW 5 25,315,664 (GRCm38) missense probably benign
R0453:Kmt2c UTSW 5 25,354,747 (GRCm38) missense probably damaging 1.00
R0616:Kmt2c UTSW 5 25,299,252 (GRCm38) missense probably benign
R0619:Kmt2c UTSW 5 25,298,916 (GRCm38) missense probably benign 0.21
R0671:Kmt2c UTSW 5 25,404,365 (GRCm38) missense probably damaging 1.00
R0736:Kmt2c UTSW 5 25,295,434 (GRCm38) missense probably benign
R0745:Kmt2c UTSW 5 25,359,698 (GRCm38) splice site probably null
R0760:Kmt2c UTSW 5 25,353,317 (GRCm38) missense possibly damaging 0.68
R0784:Kmt2c UTSW 5 25,310,895 (GRCm38) missense probably benign 0.00
R0882:Kmt2c UTSW 5 25,295,607 (GRCm38) missense possibly damaging 0.90
R0893:Kmt2c UTSW 5 25,351,270 (GRCm38) splice site probably benign
R0942:Kmt2c UTSW 5 25,315,303 (GRCm38) missense probably benign 0.10
R1110:Kmt2c UTSW 5 25,314,362 (GRCm38) missense probably benign 0.01
R1137:Kmt2c UTSW 5 25,310,983 (GRCm38) missense possibly damaging 0.80
R1255:Kmt2c UTSW 5 25,351,153 (GRCm38) missense probably damaging 1.00
R1300:Kmt2c UTSW 5 25,405,454 (GRCm38) missense probably damaging 0.99
R1497:Kmt2c UTSW 5 25,314,515 (GRCm38) missense possibly damaging 0.80
R1594:Kmt2c UTSW 5 25,314,878 (GRCm38) missense probably benign 0.01
R1611:Kmt2c UTSW 5 25,359,311 (GRCm38) critical splice donor site probably null
R1617:Kmt2c UTSW 5 25,375,927 (GRCm38) missense probably benign 0.01
R1720:Kmt2c UTSW 5 25,299,184 (GRCm38) missense probably benign 0.05
R1723:Kmt2c UTSW 5 25,315,005 (GRCm38) missense probably damaging 1.00
R1724:Kmt2c UTSW 5 25,315,005 (GRCm38) missense probably damaging 1.00
R1726:Kmt2c UTSW 5 25,315,005 (GRCm38) missense probably damaging 1.00
R1736:Kmt2c UTSW 5 25,290,527 (GRCm38) missense probably damaging 1.00
R1778:Kmt2c UTSW 5 25,372,974 (GRCm38) missense probably benign 0.02
R1809:Kmt2c UTSW 5 25,284,192 (GRCm38) missense probably damaging 1.00
R1845:Kmt2c UTSW 5 25,373,436 (GRCm38) missense probably benign 0.45
R1895:Kmt2c UTSW 5 25,315,154 (GRCm38) missense probably benign 0.34
R1946:Kmt2c UTSW 5 25,315,154 (GRCm38) missense probably benign 0.34
R1989:Kmt2c UTSW 5 25,498,544 (GRCm38) missense possibly damaging 0.93
R2039:Kmt2c UTSW 5 25,329,040 (GRCm38) missense possibly damaging 0.53
R2079:Kmt2c UTSW 5 25,352,280 (GRCm38) missense possibly damaging 0.82
R2080:Kmt2c UTSW 5 25,354,717 (GRCm38) missense probably damaging 1.00
R2107:Kmt2c UTSW 5 25,309,824 (GRCm38) missense probably benign 0.01
R2186:Kmt2c UTSW 5 25,287,112 (GRCm38) missense probably damaging 1.00
R2395:Kmt2c UTSW 5 25,315,152 (GRCm38) missense probably benign
R2983:Kmt2c UTSW 5 25,315,757 (GRCm38) small deletion probably benign
R3109:Kmt2c UTSW 5 25,275,735 (GRCm38) missense probably damaging 1.00
R3500:Kmt2c UTSW 5 25,299,479 (GRCm38) missense probably benign 0.02
R3738:Kmt2c UTSW 5 25,405,383 (GRCm38) missense probably benign 0.41
R3809:Kmt2c UTSW 5 25,409,138 (GRCm38) missense possibly damaging 0.87
R4088:Kmt2c UTSW 5 25,287,713 (GRCm38) missense probably benign
R4107:Kmt2c UTSW 5 25,298,920 (GRCm38) missense possibly damaging 0.51
R4212:Kmt2c UTSW 5 25,347,359 (GRCm38) critical splice donor site probably null
R4376:Kmt2c UTSW 5 25,315,326 (GRCm38) missense probably benign 0.00
R4377:Kmt2c UTSW 5 25,315,326 (GRCm38) missense probably benign 0.00
R4383:Kmt2c UTSW 5 25,351,062 (GRCm38) missense possibly damaging 0.77
R4435:Kmt2c UTSW 5 25,314,877 (GRCm38) missense possibly damaging 0.63
R4456:Kmt2c UTSW 5 25,310,212 (GRCm38) missense probably benign
R4461:Kmt2c UTSW 5 25,299,876 (GRCm38) missense probably benign 0.00
R4519:Kmt2c UTSW 5 25,363,477 (GRCm38) missense probably damaging 1.00
R4550:Kmt2c UTSW 5 25,300,174 (GRCm38) missense probably damaging 1.00
R4557:Kmt2c UTSW 5 25,300,315 (GRCm38) missense probably damaging 1.00
R4610:Kmt2c UTSW 5 25,354,384 (GRCm38) missense probably damaging 1.00
R4671:Kmt2c UTSW 5 25,366,177 (GRCm38) missense probably damaging 1.00
R4704:Kmt2c UTSW 5 25,314,027 (GRCm38) nonsense probably null
R4781:Kmt2c UTSW 5 25,443,825 (GRCm38) missense probably damaging 1.00
R4844:Kmt2c UTSW 5 25,315,113 (GRCm38) missense probably benign
R4855:Kmt2c UTSW 5 25,314,557 (GRCm38) missense probably benign 0.00
R4919:Kmt2c UTSW 5 25,314,395 (GRCm38) missense possibly damaging 0.80
R4971:Kmt2c UTSW 5 25,310,872 (GRCm38) missense probably benign 0.00
R4983:Kmt2c UTSW 5 25,295,511 (GRCm38) missense possibly damaging 0.51
R5012:Kmt2c UTSW 5 25,299,712 (GRCm38) nonsense probably null
R5033:Kmt2c UTSW 5 25,314,708 (GRCm38) missense probably benign 0.03
R5093:Kmt2c UTSW 5 25,409,207 (GRCm38) missense probably benign 0.17
R5125:Kmt2c UTSW 5 25,284,381 (GRCm38) missense probably damaging 0.99
R5231:Kmt2c UTSW 5 25,315,473 (GRCm38) missense possibly damaging 0.89
R5254:Kmt2c UTSW 5 25,314,594 (GRCm38) missense probably benign 0.01
R5396:Kmt2c UTSW 5 25,294,734 (GRCm38) splice site probably null
R5415:Kmt2c UTSW 5 25,314,701 (GRCm38) missense probably benign 0.21
R5523:Kmt2c UTSW 5 25,299,339 (GRCm38) missense probably benign 0.00
R5554:Kmt2c UTSW 5 25,294,610 (GRCm38) missense probably damaging 1.00
R5701:Kmt2c UTSW 5 25,314,017 (GRCm38) missense probably benign 0.16
R5762:Kmt2c UTSW 5 25,310,457 (GRCm38) missense probably benign 0.01
R5819:Kmt2c UTSW 5 25,409,132 (GRCm38) critical splice donor site probably null
R5838:Kmt2c UTSW 5 25,284,471 (GRCm38) missense probably damaging 1.00
R5912:Kmt2c UTSW 5 25,347,469 (GRCm38) missense possibly damaging 0.80
R5951:Kmt2c UTSW 5 25,330,803 (GRCm38) missense probably benign 0.15
R5988:Kmt2c UTSW 5 25,311,120 (GRCm38) missense probably benign 0.02
R5999:Kmt2c UTSW 5 25,284,205 (GRCm38) missense probably damaging 1.00
R6104:Kmt2c UTSW 5 25,299,129 (GRCm38) missense probably benign
R6254:Kmt2c UTSW 5 25,349,874 (GRCm38) missense possibly damaging 0.94
R6311:Kmt2c UTSW 5 25,443,818 (GRCm38) critical splice donor site probably null
R6329:Kmt2c UTSW 5 25,315,602 (GRCm38) missense probably benign 0.01
R6347:Kmt2c UTSW 5 25,310,835 (GRCm38) missense possibly damaging 0.54
R6364:Kmt2c UTSW 5 25,309,636 (GRCm38) missense probably null 0.99
R6379:Kmt2c UTSW 5 25,359,341 (GRCm38) missense probably damaging 1.00
R6588:Kmt2c UTSW 5 25,323,789 (GRCm38) missense probably damaging 0.99
R6628:Kmt2c UTSW 5 25,298,928 (GRCm38) missense probably benign
R6733:Kmt2c UTSW 5 25,409,293 (GRCm38) missense probably damaging 1.00
R6787:Kmt2c UTSW 5 25,275,739 (GRCm38) splice site probably null
R6816:Kmt2c UTSW 5 25,405,532 (GRCm38) splice site probably null
R6862:Kmt2c UTSW 5 25,310,517 (GRCm38) missense probably damaging 1.00
R7150:Kmt2c UTSW 5 25,300,362 (GRCm38) missense possibly damaging 0.89
R7220:Kmt2c UTSW 5 25,344,925 (GRCm38) missense probably damaging 1.00
R7250:Kmt2c UTSW 5 25,309,807 (GRCm38) missense probably benign 0.00
R7250:Kmt2c UTSW 5 25,299,491 (GRCm38) missense probably damaging 1.00
R7402:Kmt2c UTSW 5 25,395,420 (GRCm38) missense probably damaging 1.00
R7465:Kmt2c UTSW 5 25,302,849 (GRCm38) missense probably damaging 1.00
R7467:Kmt2c UTSW 5 25,308,532 (GRCm38) missense probably damaging 1.00
R7491:Kmt2c UTSW 5 25,284,564 (GRCm38) missense probably damaging 0.99
R7549:Kmt2c UTSW 5 25,414,970 (GRCm38) missense possibly damaging 0.95
R7637:Kmt2c UTSW 5 25,315,095 (GRCm38) missense probably damaging 1.00
R7652:Kmt2c UTSW 5 25,315,719 (GRCm38) missense probably benign 0.01
R7714:Kmt2c UTSW 5 25,375,366 (GRCm38) missense probably benign
R7838:Kmt2c UTSW 5 25,294,699 (GRCm38) missense possibly damaging 0.57
R7891:Kmt2c UTSW 5 25,300,111 (GRCm38) missense probably damaging 1.00
R7892:Kmt2c UTSW 5 25,299,816 (GRCm38) missense probably benign 0.18
R7895:Kmt2c UTSW 5 25,373,176 (GRCm38) missense possibly damaging 0.65
R7960:Kmt2c UTSW 5 25,315,196 (GRCm38) missense probably benign 0.01
R7974:Kmt2c UTSW 5 25,300,563 (GRCm38) missense probably damaging 1.00
R7978:Kmt2c UTSW 5 25,359,678 (GRCm38) missense probably benign 0.00
R8011:Kmt2c UTSW 5 25,351,234 (GRCm38) missense probably damaging 0.99
R8021:Kmt2c UTSW 5 25,287,119 (GRCm38) missense possibly damaging 0.88
R8022:Kmt2c UTSW 5 25,281,680 (GRCm38) missense possibly damaging 0.83
R8079:Kmt2c UTSW 5 25,302,732 (GRCm38) missense probably damaging 0.98
R8087:Kmt2c UTSW 5 25,329,252 (GRCm38) missense probably damaging 1.00
R8109:Kmt2c UTSW 5 25,281,384 (GRCm38) missense probably damaging 1.00
R8161:Kmt2c UTSW 5 25,374,564 (GRCm38) missense probably benign 0.00
R8169:Kmt2c UTSW 5 25,354,687 (GRCm38) missense probably damaging 1.00
R8206:Kmt2c UTSW 5 25,314,539 (GRCm38) missense probably damaging 0.98
R8218:Kmt2c UTSW 5 25,283,106 (GRCm38) missense probably damaging 1.00
R8223:Kmt2c UTSW 5 25,324,218 (GRCm38) missense possibly damaging 0.89
R8260:Kmt2c UTSW 5 25,405,516 (GRCm38) missense possibly damaging 0.87
R8330:Kmt2c UTSW 5 25,304,694 (GRCm38) missense probably null 1.00
R8355:Kmt2c UTSW 5 25,354,501 (GRCm38) critical splice acceptor site probably null
R8455:Kmt2c UTSW 5 25,354,501 (GRCm38) critical splice acceptor site probably null
R8508:Kmt2c UTSW 5 25,314,122 (GRCm38) missense probably benign 0.34
R8885:Kmt2c UTSW 5 25,315,079 (GRCm38) missense probably benign 0.34
R8907:Kmt2c UTSW 5 25,309,611 (GRCm38) missense probably damaging 1.00
R8924:Kmt2c UTSW 5 25,298,887 (GRCm38) missense probably benign
R8969:Kmt2c UTSW 5 25,314,389 (GRCm38) missense possibly damaging 0.82
R9019:Kmt2c UTSW 5 25,283,210 (GRCm38) missense probably damaging 1.00
R9035:Kmt2c UTSW 5 25,319,012 (GRCm38) missense probably damaging 1.00
R9074:Kmt2c UTSW 5 25,284,345 (GRCm38) missense probably damaging 1.00
R9125:Kmt2c UTSW 5 25,284,196 (GRCm38) missense possibly damaging 0.86
R9130:Kmt2c UTSW 5 25,311,104 (GRCm38) missense probably benign 0.01
R9171:Kmt2c UTSW 5 25,281,311 (GRCm38) missense probably damaging 1.00
R9235:Kmt2c UTSW 5 25,299,999 (GRCm38) missense probably damaging 1.00
R9288:Kmt2c UTSW 5 25,349,862 (GRCm38) missense probably benign 0.34
R9288:Kmt2c UTSW 5 25,292,909 (GRCm38) missense probably damaging 1.00
R9336:Kmt2c UTSW 5 25,409,167 (GRCm38) missense probably benign 0.06
R9443:Kmt2c UTSW 5 25,310,047 (GRCm38) missense probably damaging 1.00
R9481:Kmt2c UTSW 5 25,292,909 (GRCm38) missense probably damaging 1.00
R9481:Kmt2c UTSW 5 25,349,862 (GRCm38) missense probably benign 0.34
R9526:Kmt2c UTSW 5 25,281,357 (GRCm38) missense probably damaging 1.00
R9653:Kmt2c UTSW 5 25,302,821 (GRCm38) missense probably damaging 1.00
R9729:Kmt2c UTSW 5 25,284,760 (GRCm38) missense probably damaging 1.00
R9731:Kmt2c UTSW 5 25,372,958 (GRCm38) missense probably benign 0.18
R9784:Kmt2c UTSW 5 25,344,961 (GRCm38) missense probably damaging 1.00
RF001:Kmt2c UTSW 5 25,315,775 (GRCm38) small insertion probably benign
RF006:Kmt2c UTSW 5 25,315,772 (GRCm38) small insertion probably benign
RF011:Kmt2c UTSW 5 25,338,459 (GRCm38) missense probably damaging 1.00
RF041:Kmt2c UTSW 5 25,315,775 (GRCm38) small insertion probably benign
RF047:Kmt2c UTSW 5 25,315,760 (GRCm38) small insertion probably benign
RF051:Kmt2c UTSW 5 25,313,479 (GRCm38) unclassified probably benign
RF055:Kmt2c UTSW 5 25,315,772 (GRCm38) small insertion probably benign
RF059:Kmt2c UTSW 5 25,313,479 (GRCm38) unclassified probably benign
RF063:Kmt2c UTSW 5 25,315,764 (GRCm38) small insertion probably benign
X0024:Kmt2c UTSW 5 25,405,485 (GRCm38) missense probably benign 0.26
X0027:Kmt2c UTSW 5 25,330,887 (GRCm38) missense possibly damaging 0.90
Z1176:Kmt2c UTSW 5 25,354,413 (GRCm38) missense probably damaging 1.00
Z1177:Kmt2c UTSW 5 25,366,197 (GRCm38) critical splice acceptor site probably null
Z1177:Kmt2c UTSW 5 25,300,003 (GRCm38) missense probably benign 0.00
Z1177:Kmt2c UTSW 5 25,295,397 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGCTTAAAGGTCCCCTTGG -3'
(R):5'- CATCAGTAGACTTGCTTTACTGGC -3'

Sequencing Primer
(F):5'- CTTGGGGATGACAATATGAATGCTCC -3'
(R):5'- GCTTTACTGGCAAGTGAATCC -3'
Posted On 2014-09-17