Incidental Mutation 'R7095:Jmjd1c'
ID 550435
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
MMRRC Submission 045243-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.662) question?
Stock # R7095 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 66932189-67092105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 67055411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 277 (V277G)
Ref Sequence ENSEMBL: ENSMUSP00000134246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174317] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect possibly damaging
Transcript: ENSMUST00000051446
AA Change: V564G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: V564G

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173689
AA Change: V383G

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: V383G

DomainStartEndE-ValueType
Blast:JmjC 1 2056 N/A BLAST
JmjC 2084 2308 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174317
AA Change: V277G

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134246
Gene: ENSMUSG00000037876
AA Change: V277G

DomainStartEndE-ValueType
Blast:JmjC 1 744 N/A BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000174408
AA Change: V564G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: V564G

DomainStartEndE-ValueType
Blast:JmjC 143 2237 N/A BLAST
JmjC 2265 2489 3.29e-53 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (71/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,268,403 (GRCm39) V809A possibly damaging Het
Adam32 T A 8: 25,404,086 (GRCm39) D242V probably damaging Het
Adamts9 T A 6: 92,864,672 (GRCm39) H763L probably benign Het
Aff1 A G 5: 103,990,951 (GRCm39) D967G probably damaging Het
Anpep A T 7: 79,491,950 (GRCm39) L17Q possibly damaging Het
Appbp2 G T 11: 85,125,553 (GRCm39) S28* probably null Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bod1l A G 5: 41,952,411 (GRCm39) probably null Het
Capn5 G A 7: 97,775,038 (GRCm39) T534I probably benign Het
Cbx2 T C 11: 118,918,885 (GRCm39) I150T probably damaging Het
Cdh11 A G 8: 103,384,899 (GRCm39) V392A probably damaging Het
Cenpf A T 1: 189,391,373 (GRCm39) C803S probably benign Het
Cep135 A G 5: 76,741,905 (GRCm39) T114A probably benign Het
Chd2 A T 7: 73,121,629 (GRCm39) D994E probably damaging Het
Chtf18 C A 17: 25,941,652 (GRCm39) W584C probably damaging Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dgkh C A 14: 78,865,224 (GRCm39) M172I probably benign Het
Dpy19l2 T G 9: 24,607,110 (GRCm39) H117P probably benign Het
Dzip3 A T 16: 48,748,153 (GRCm39) N908K probably benign Het
Erc2 A T 14: 27,620,550 (GRCm39) N393Y probably damaging Het
Fam118b T C 9: 35,132,786 (GRCm39) E291G possibly damaging Het
Fam193a C T 5: 34,615,378 (GRCm39) L816F probably damaging Het
Fat2 A G 11: 55,202,157 (GRCm39) Y306H probably damaging Het
Fndc10 C T 4: 155,779,574 (GRCm39) T206I probably damaging Het
Fzd1 GGGACTCCTCCACCTCCCTGGA GGGA 5: 4,805,824 (GRCm39) probably benign Het
Gsk3a A T 7: 24,933,279 (GRCm39) Y177N probably damaging Het
Haus5 T C 7: 30,358,997 (GRCm39) T222A probably benign Het
Igfbp7 G T 5: 77,549,337 (GRCm39) Q189K probably benign Het
Inppl1 A T 7: 101,476,663 (GRCm39) Y771* probably null Het
Iqck A T 7: 118,514,814 (GRCm39) Y234F probably damaging Het
Irs1 G T 1: 82,267,819 (GRCm39) C132* probably null Het
Klhl22 G A 16: 17,610,614 (GRCm39) V622M probably damaging Het
Kri1 C T 9: 21,190,728 (GRCm39) E378K Het
Lilra6 C T 7: 3,916,196 (GRCm39) G221D probably damaging Het
Mecom T C 3: 30,035,103 (GRCm39) E191G probably damaging Het
Mgrn1 T A 16: 4,745,528 (GRCm39) probably null Het
Mical1 C T 10: 41,355,206 (GRCm39) probably null Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Mpl T A 4: 118,301,260 (GRCm39) H535L Het
Mtarc1 A G 1: 184,527,437 (GRCm39) L297P probably damaging Het
Mtfr2 C A 10: 20,228,666 (GRCm39) H71N probably benign Het
Mtrf1 GCCTTC GC 14: 79,660,931 (GRCm39) probably null Het
Myh15 A G 16: 48,992,272 (GRCm39) Q1582R possibly damaging Het
Neb C T 2: 52,067,635 (GRCm39) E6062K possibly damaging Het
Nlrp4c G A 7: 6,063,792 (GRCm39) A67T probably damaging Het
Noc3l T A 19: 38,800,789 (GRCm39) H231L probably benign Het
Odf1 T C 15: 38,219,803 (GRCm39) Y44H possibly damaging Het
Or52e2 G A 7: 102,804,537 (GRCm39) T139I probably damaging Het
Or52s1b C T 7: 102,822,253 (GRCm39) R197H probably benign Het
Or5j3 C T 2: 86,129,021 (GRCm39) P287L probably benign Het
Otol1 G T 3: 69,926,027 (GRCm39) E67D probably benign Het
Otud7b A G 3: 96,062,554 (GRCm39) S598G probably benign Het
Ppwd1 T A 13: 104,342,134 (GRCm39) T607S probably benign Het
Prag1 A G 8: 36,569,714 (GRCm39) N99S probably benign Het
Ralgds C A 2: 28,439,320 (GRCm39) Q737K possibly damaging Het
Scyl2 T C 10: 89,505,549 (GRCm39) H98R probably damaging Het
Secisbp2 A C 13: 51,831,290 (GRCm39) Q575H probably benign Het
Slc9a5 A T 8: 106,084,268 (GRCm39) H497L probably benign Het
Sufu T A 19: 46,464,027 (GRCm39) V414E probably damaging Het
Tbc1d22b A T 17: 29,818,843 (GRCm39) E399V probably damaging Het
Tcp10c G A 17: 13,576,196 (GRCm39) V59I probably benign Het
Tdpoz3 T C 3: 93,734,368 (GRCm39) S348P probably benign Het
Tmem219 A T 7: 126,490,928 (GRCm39) F176L probably damaging Het
Trav6-2 A G 14: 52,905,291 (GRCm39) D104G probably damaging Het
Uba7 A G 9: 107,860,538 (GRCm39) K927R probably benign Het
Vps54 T G 11: 21,221,720 (GRCm39) D158E probably benign Het
Xpnpep1 C T 19: 53,000,196 (GRCm39) probably null Het
Xpo7 G A 14: 70,942,146 (GRCm39) R73W probably damaging Het
Zfp532 A T 18: 65,815,969 (GRCm39) M781L probably benign Het
Zfp930 T A 8: 69,681,193 (GRCm39) I295K probably benign 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
R1676:Jmjd1c UTSW 10 67,060,588 (GRCm39) missense probably benign 0.02
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
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'- TGGAAAACCAACGCACAGTG -3'
(R):5'- TGCCTTCTGGGTATCTACTGAAG -3'

Sequencing Primer
(F):5'- TTACCAAAGGACAGGTTAGTGTC -3'
(R):5'- TTCTGGGTATCTACTGAAGTAGTTAG -3'
Posted On 2019-05-15