Incidental Mutation 'R1676:Jmjd1c'
ID 188095
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
MMRRC Submission 039712-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.662) question?
Stock # R1676 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 66932189-67092105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67060588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 693 (D693E)
Ref Sequence ENSEMBL: ENSMUSP00000134246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174317] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect probably benign
Transcript: ENSMUST00000051446
AA Change: D980E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: D980E

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173689
AA Change: D799E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: D799E

DomainStartEndE-ValueType
Blast:JmjC 1 2056 N/A BLAST
JmjC 2084 2308 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174317
AA Change: D693E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000134246
Gene: ENSMUSG00000037876
AA Change: D693E

DomainStartEndE-ValueType
Blast:JmjC 1 744 N/A BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174408
AA Change: D980E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: D980E

DomainStartEndE-ValueType
Blast:JmjC 143 2237 N/A BLAST
JmjC 2265 2489 3.29e-53 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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 interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an age-dependent male infertility phenotype, characterized by early loss of undifferentiated spermatogonia, and a progressive reduction in testis size/weight and male germ cells, partly due to increased male germ cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G T 11: 58,771,819 (GRCm39) A434S possibly damaging Het
Abhd8 T A 8: 71,914,517 (GRCm39) D37V probably damaging Het
Acvr2a G A 2: 48,763,095 (GRCm39) S97N probably benign Het
Ampd3 T A 7: 110,394,940 (GRCm39) H296Q probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Cap2 T G 13: 46,791,335 (GRCm39) H167Q probably damaging Het
Car8 A G 4: 8,185,616 (GRCm39) L180S probably damaging Het
Casp8 T A 1: 58,883,575 (GRCm39) I314N probably damaging Het
Cavin2 T A 1: 51,340,330 (GRCm39) S336T probably benign Het
Cdc14b A T 13: 64,373,416 (GRCm39) I119N possibly damaging Het
Cemip T A 7: 83,613,246 (GRCm39) I651F possibly damaging Het
Cfap57 T A 4: 118,453,137 (GRCm39) D522V probably damaging Het
Clrn3 A T 7: 135,120,307 (GRCm39) V93D probably damaging Het
Crppa T C 12: 36,526,720 (GRCm39) C170R probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
D5Ertd579e A G 5: 36,773,453 (GRCm39) V314A probably benign Het
Dchs1 C T 7: 105,404,128 (GRCm39) V2805I probably benign Het
Dsp A T 13: 38,377,350 (GRCm39) K1712* probably null Het
Emilin2 T C 17: 71,581,085 (GRCm39) D547G probably benign Het
Erbb3 T C 10: 128,419,117 (GRCm39) H248R probably benign Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Fbn1 T C 2: 125,151,701 (GRCm39) T2518A probably damaging Het
Fzd2 G A 11: 102,496,707 (GRCm39) V384M probably damaging Het
Gpc5 T A 14: 115,607,510 (GRCm39) S371T probably damaging Het
Hbb-bh2 T C 7: 103,488,362 (GRCm39) K145R probably null Het
Hectd1 G T 12: 51,791,571 (GRCm39) P2558Q probably damaging Het
Hgsnat C T 8: 26,444,633 (GRCm39) probably null Het
Hirip3 T C 7: 126,462,647 (GRCm39) probably null Het
Itpkc T C 7: 26,907,706 (GRCm39) D666G probably damaging Het
Katnbl1 T C 2: 112,236,454 (GRCm39) L60P probably damaging Het
Kcna1 T A 6: 126,619,645 (GRCm39) E225V probably damaging Het
Kcnj6 T A 16: 94,633,443 (GRCm39) M223L probably damaging Het
Kcnk7 G T 19: 5,757,006 (GRCm39) V332F probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Mdga2 C A 12: 66,615,546 (GRCm39) G618V probably damaging Het
Mdga2 C A 12: 66,615,547 (GRCm39) G618* probably null Het
Morc2b T C 17: 33,354,955 (GRCm39) E939G possibly damaging Het
Mstn T A 1: 53,101,224 (GRCm39) D100E probably benign Het
Mthfd1l G A 10: 4,033,877 (GRCm39) probably null Het
Muc20 T A 16: 32,614,649 (GRCm39) T243S probably damaging Het
Myo1d A T 11: 80,575,247 (GRCm39) N156K probably damaging Het
Myo7a A G 7: 97,748,679 (GRCm39) probably null Het
Naa35 A T 13: 59,760,490 (GRCm39) Q274L probably damaging Het
Ncam1 G A 9: 49,468,472 (GRCm39) T329I probably damaging Het
Nisch T C 14: 30,902,859 (GRCm39) probably benign Het
Nlrp1b A T 11: 71,073,637 (GRCm39) W69R probably benign Het
Nrap T A 19: 56,323,687 (GRCm39) H1294L probably damaging Het
Nsun6 T A 2: 15,052,024 (GRCm39) R56* probably null Het
Nudt1 A G 5: 140,320,378 (GRCm39) probably null Het
Nxph4 T G 10: 127,362,077 (GRCm39) K271N probably damaging Het
Or1af1 A T 2: 37,109,653 (GRCm39) R51* probably null Het
Or4a66 T G 2: 88,531,661 (GRCm39) H4P probably benign Het
Or51e2 T A 7: 102,391,605 (GRCm39) I202F probably damaging Het
Or52a20 T C 7: 103,366,319 (GRCm39) W173R probably benign Het
Otud6b T A 4: 14,825,617 (GRCm39) N71I probably damaging Het
Parp8 T A 13: 117,014,064 (GRCm39) D623V probably damaging Het
Pcdhb5 T C 18: 37,453,805 (GRCm39) S62P probably benign Het
Ppp1r12b A G 1: 134,705,190 (GRCm39) S833P probably damaging Het
Ppp1r1a T G 15: 103,441,915 (GRCm39) D51A probably damaging Het
Prag1 C A 8: 36,570,052 (GRCm39) P212T probably damaging Het
Prxl2b C T 4: 154,981,520 (GRCm39) V186I probably benign Het
Ptdss1 A G 13: 67,081,701 (GRCm39) T44A probably damaging Het
Rab14 T C 2: 35,076,735 (GRCm39) H83R possibly damaging Het
Rapgef3 C T 15: 97,659,063 (GRCm39) G101E probably benign Het
Rimbp3 T A 16: 17,028,977 (GRCm39) D800E probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Selenbp1 A G 3: 94,851,854 (GRCm39) D465G probably damaging Het
Slc28a2b T C 2: 122,352,340 (GRCm39) S366P probably damaging Het
Slc29a1 T C 17: 45,899,936 (GRCm39) D251G probably damaging Het
Slc6a11 G T 6: 114,224,627 (GRCm39) V604F probably benign Het
Sltm T A 9: 70,480,929 (GRCm39) D260E probably damaging Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
St6gal2 T C 17: 55,803,396 (GRCm39) probably null Het
Tc2n A G 12: 101,655,251 (GRCm39) S235P probably damaging Het
Tenm3 T A 8: 48,870,154 (GRCm39) N213I possibly damaging Het
Ticam2 T C 18: 46,693,677 (GRCm39) T137A probably damaging Het
Ttn TCCC TCCCC 2: 76,573,251 (GRCm39) probably null Het
Tyk2 G A 9: 21,026,545 (GRCm39) Q684* probably null Het
Ubqln1 A G 13: 58,327,205 (GRCm39) F478S possibly damaging Het
Uckl1 G A 2: 181,216,711 (GRCm39) T78I probably damaging Het
Uhmk1 A G 1: 170,027,581 (GRCm39) V372A probably damaging Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Ush2a T C 1: 188,460,782 (GRCm39) L2681P probably damaging Het
Vmn2r1 C T 3: 63,997,603 (GRCm39) Q420* probably null Het
Vmn2r101 A T 17: 19,832,184 (GRCm39) T727S probably benign Het
Vmn2r79 A G 7: 86,651,839 (GRCm39) T413A probably benign Het
Vps13c T C 9: 67,834,244 (GRCm39) V1637A probably benign Het
Xpc A G 6: 91,469,929 (GRCm39) V765A possibly damaging Het
Zbtb18 T G 1: 177,274,913 (GRCm39) probably null Het
Zfp712 A T 13: 67,200,400 (GRCm39) D28E probably benign Het
Zfp735 A G 11: 73,602,301 (GRCm39) N415S possibly damaging Het
Other mutations in Jmjd1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Jmjd1c APN 10 67,062,494 (GRCm39) missense probably damaging 1.00
IGL01604:Jmjd1c APN 10 67,085,541 (GRCm39) missense probably damaging 1.00
IGL01753:Jmjd1c APN 10 67,067,794 (GRCm39) missense probably damaging 1.00
IGL02081:Jmjd1c APN 10 67,055,305 (GRCm39) missense probably benign 0.02
IGL02128:Jmjd1c APN 10 67,079,648 (GRCm39) missense probably damaging 1.00
IGL02134:Jmjd1c APN 10 67,056,171 (GRCm39) missense possibly damaging 0.87
IGL02215:Jmjd1c APN 10 67,056,101 (GRCm39) missense probably damaging 1.00
IGL02408:Jmjd1c APN 10 67,062,161 (GRCm39) missense probably benign 0.00
IGL02502:Jmjd1c APN 10 67,061,640 (GRCm39) missense probably benign 0.13
IGL02546:Jmjd1c APN 10 67,061,115 (GRCm39) missense possibly damaging 0.94
IGL02943:Jmjd1c APN 10 67,055,433 (GRCm39) missense probably damaging 0.99
IGL03171:Jmjd1c APN 10 67,061,277 (GRCm39) missense possibly damaging 0.89
IGL03261:Jmjd1c APN 10 67,067,849 (GRCm39) missense probably damaging 0.99
Accordion UTSW 10 67,069,193 (GRCm39) missense probably damaging 0.99
PIT4378001:Jmjd1c UTSW 10 67,065,692 (GRCm39) missense probably damaging 1.00
R0126:Jmjd1c UTSW 10 67,055,105 (GRCm39) missense probably damaging 0.98
R0133:Jmjd1c UTSW 10 67,076,587 (GRCm39) missense probably benign 0.22
R0201:Jmjd1c UTSW 10 67,054,888 (GRCm39) missense unknown
R0396:Jmjd1c UTSW 10 67,055,302 (GRCm39) missense possibly damaging 0.82
R0401:Jmjd1c UTSW 10 67,056,161 (GRCm39) missense probably damaging 1.00
R0452:Jmjd1c UTSW 10 67,091,261 (GRCm39) missense probably benign 0.28
R0488:Jmjd1c UTSW 10 67,076,506 (GRCm39) missense probably damaging 0.99
R0504:Jmjd1c UTSW 10 67,061,534 (GRCm39) missense probably damaging 1.00
R0555:Jmjd1c UTSW 10 67,061,568 (GRCm39) missense probably benign 0.01
R0673:Jmjd1c UTSW 10 67,062,588 (GRCm39) missense probably damaging 1.00
R0718:Jmjd1c UTSW 10 67,054,725 (GRCm39) splice site probably null
R0755:Jmjd1c UTSW 10 66,932,378 (GRCm39) intron probably benign
R1142:Jmjd1c UTSW 10 67,061,124 (GRCm39) missense probably damaging 1.00
R1196:Jmjd1c UTSW 10 67,075,015 (GRCm39) splice site probably benign
R1413:Jmjd1c UTSW 10 67,085,529 (GRCm39) missense probably damaging 1.00
R1619:Jmjd1c UTSW 10 67,055,654 (GRCm39) missense probably benign 0.25
R1751:Jmjd1c UTSW 10 67,061,469 (GRCm39) missense probably benign
R1950:Jmjd1c UTSW 10 67,075,701 (GRCm39) missense possibly damaging 0.71
R1968:Jmjd1c UTSW 10 67,061,219 (GRCm39) missense probably damaging 1.00
R2049:Jmjd1c UTSW 10 66,993,777 (GRCm39) nonsense probably null
R2061:Jmjd1c UTSW 10 67,054,205 (GRCm39) missense probably damaging 1.00
R2202:Jmjd1c UTSW 10 67,075,242 (GRCm39) splice site probably null
R2203:Jmjd1c UTSW 10 67,075,242 (GRCm39) splice site probably null
R2256:Jmjd1c UTSW 10 67,061,073 (GRCm39) missense probably damaging 1.00
R2312:Jmjd1c UTSW 10 67,074,629 (GRCm39) missense probably damaging 0.98
R2349:Jmjd1c UTSW 10 67,091,279 (GRCm39) missense probably benign
R2392:Jmjd1c UTSW 10 67,065,683 (GRCm39) missense probably damaging 1.00
R3015:Jmjd1c UTSW 10 66,993,711 (GRCm39) missense probably damaging 1.00
R3110:Jmjd1c UTSW 10 67,075,863 (GRCm39) splice site probably benign
R4043:Jmjd1c UTSW 10 67,055,245 (GRCm39) missense possibly damaging 0.55
R4097:Jmjd1c UTSW 10 67,054,787 (GRCm39) missense probably benign 0.09
R4118:Jmjd1c UTSW 10 67,055,532 (GRCm39) missense probably damaging 0.96
R4193:Jmjd1c UTSW 10 66,932,460 (GRCm39) intron probably benign
R4352:Jmjd1c UTSW 10 67,080,588 (GRCm39) missense probably damaging 1.00
R4577:Jmjd1c UTSW 10 67,085,529 (GRCm39) missense probably damaging 1.00
R4630:Jmjd1c UTSW 10 66,993,753 (GRCm39) nonsense probably null
R4717:Jmjd1c UTSW 10 66,993,830 (GRCm39) nonsense probably null
R4741:Jmjd1c UTSW 10 67,060,718 (GRCm39) missense possibly damaging 0.56
R4774:Jmjd1c UTSW 10 67,060,571 (GRCm39) missense possibly damaging 0.45
R4836:Jmjd1c UTSW 10 67,069,225 (GRCm39) missense probably benign 0.21
R4914:Jmjd1c UTSW 10 67,054,750 (GRCm39) missense probably damaging 1.00
R4939:Jmjd1c UTSW 10 67,081,916 (GRCm39) missense possibly damaging 0.93
R5211:Jmjd1c UTSW 10 67,067,795 (GRCm39) missense probably damaging 1.00
R5215:Jmjd1c UTSW 10 67,076,480 (GRCm39) missense possibly damaging 0.93
R5514:Jmjd1c UTSW 10 67,053,928 (GRCm39) missense probably damaging 1.00
R5530:Jmjd1c UTSW 10 67,085,541 (GRCm39) missense probably damaging 1.00
R5624:Jmjd1c UTSW 10 67,069,193 (GRCm39) missense probably damaging 0.99
R5640:Jmjd1c UTSW 10 67,061,857 (GRCm39) missense probably benign 0.10
R5654:Jmjd1c UTSW 10 67,065,785 (GRCm39) missense probably benign 0.10
R5742:Jmjd1c UTSW 10 67,056,112 (GRCm39) missense probably benign 0.02
R5764:Jmjd1c UTSW 10 67,062,291 (GRCm39) missense probably damaging 1.00
R6118:Jmjd1c UTSW 10 67,075,791 (GRCm39) missense probably damaging 1.00
R6163:Jmjd1c UTSW 10 67,083,827 (GRCm39) missense possibly damaging 0.46
R6256:Jmjd1c UTSW 10 67,056,187 (GRCm39) missense probably damaging 1.00
R6266:Jmjd1c UTSW 10 67,085,439 (GRCm39) missense probably damaging 0.96
R6358:Jmjd1c UTSW 10 67,061,718 (GRCm39) missense probably benign
R6430:Jmjd1c UTSW 10 67,059,939 (GRCm39) missense possibly damaging 0.87
R6455:Jmjd1c UTSW 10 67,061,795 (GRCm39) missense probably benign 0.10
R6887:Jmjd1c UTSW 10 67,025,599 (GRCm39) missense possibly damaging 0.74
R6895:Jmjd1c UTSW 10 67,052,869 (GRCm39) missense probably benign 0.00
R7041:Jmjd1c UTSW 10 67,056,388 (GRCm39) missense possibly damaging 0.90
R7095:Jmjd1c UTSW 10 67,055,411 (GRCm39) missense probably benign 0.39
R7113:Jmjd1c UTSW 10 66,993,780 (GRCm39) missense probably damaging 0.98
R7225:Jmjd1c UTSW 10 67,061,844 (GRCm39) missense probably benign 0.00
R7249:Jmjd1c UTSW 10 67,025,596 (GRCm39) missense probably benign 0.01
R7361:Jmjd1c UTSW 10 67,054,143 (GRCm39) missense probably benign 0.10
R7383:Jmjd1c UTSW 10 67,025,537 (GRCm39) missense probably benign 0.14
R7460:Jmjd1c UTSW 10 67,052,815 (GRCm39) missense probably benign 0.24
R7475:Jmjd1c UTSW 10 67,061,092 (GRCm39) missense probably benign 0.22
R7502:Jmjd1c UTSW 10 67,067,794 (GRCm39) missense probably damaging 0.99
R7699:Jmjd1c UTSW 10 67,054,195 (GRCm39) missense probably benign 0.10
R7745:Jmjd1c UTSW 10 67,052,824 (GRCm39) missense probably damaging 0.96
R7897:Jmjd1c UTSW 10 67,075,644 (GRCm39) missense probably damaging 0.96
R7908:Jmjd1c UTSW 10 67,061,621 (GRCm39) missense probably benign
R7911:Jmjd1c UTSW 10 67,067,774 (GRCm39) missense probably damaging 1.00
R7967:Jmjd1c UTSW 10 67,085,461 (GRCm39) missense probably damaging 1.00
R8058:Jmjd1c UTSW 10 67,090,274 (GRCm39) missense not run
R8224:Jmjd1c UTSW 10 67,080,628 (GRCm39) missense noncoding transcript
R8251:Jmjd1c UTSW 10 67,075,068 (GRCm39) missense noncoding transcript
R8797:Jmjd1c UTSW 10 67,060,616 (GRCm39) missense probably benign
R8833:Jmjd1c UTSW 10 67,054,162 (GRCm39) missense probably benign 0.03
R9262:Jmjd1c UTSW 10 67,083,793 (GRCm39) missense probably benign 0.39
R9354:Jmjd1c UTSW 10 67,059,875 (GRCm39) missense probably damaging 0.99
R9373:Jmjd1c UTSW 10 66,932,495 (GRCm39) intron probably benign
R9477:Jmjd1c UTSW 10 66,993,734 (GRCm39) nonsense probably null
R9519:Jmjd1c UTSW 10 66,993,798 (GRCm39) missense possibly damaging 0.80
R9701:Jmjd1c UTSW 10 67,060,745 (GRCm39) missense possibly damaging 0.94
R9802:Jmjd1c UTSW 10 67,060,745 (GRCm39) missense possibly damaging 0.94
RF011:Jmjd1c UTSW 10 67,055,978 (GRCm39) missense possibly damaging 0.47
Z1088:Jmjd1c UTSW 10 67,073,953 (GRCm39) missense probably benign
Z1176:Jmjd1c UTSW 10 67,073,953 (GRCm39) missense probably benign
Z1177:Jmjd1c UTSW 10 67,081,904 (GRCm39) missense probably damaging 0.98
Z1177:Jmjd1c UTSW 10 67,073,953 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCAGTGTTTAACACTTAACACATGCCT -3'
(R):5'- CCTTGATTTTGGTTGTAAATGGAGCCAC -3'

Sequencing Primer
(F):5'- ctcaaactcagaaatccgcc -3'
(R):5'- GGTTGTAAATGGAGCCACATCAATAC -3'
Posted On 2014-05-09