Incidental Mutation 'R5215:Jmjd1c'
ID 403429
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
MMRRC Submission 042788-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.662) question?
Stock # R5215 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 66932189-67092105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67076480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 2101 (D2101E)
Ref Sequence ENSEMBL: ENSMUSP00000134551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect possibly damaging
Transcript: ENSMUST00000051446
AA Change: D2100E

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: D2100E

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173236
Predicted Effect possibly damaging
Transcript: ENSMUST00000173689
AA Change: D1920E

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: D1920E

DomainStartEndE-ValueType
Blast:JmjC 1 2056 N/A BLAST
JmjC 2084 2308 3.29e-53 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173762
Predicted Effect possibly damaging
Transcript: ENSMUST00000174408
AA Change: D2101E

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: D2101E

DomainStartEndE-ValueType
Blast:JmjC 143 2237 N/A BLAST
JmjC 2265 2489 3.29e-53 SMART
Meta Mutation Damage Score 0.1832 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (79/79)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 C A 9: 106,120,574 (GRCm39) A73S probably benign Het
Aldoart2 G A 12: 55,612,204 (GRCm39) R43Q probably benign Het
Ano4 T C 10: 89,153,165 (GRCm39) H49R possibly damaging Het
Atic T C 1: 71,603,666 (GRCm39) S161P probably damaging Het
Atp6v1c2 T C 12: 17,341,659 (GRCm39) E244G probably benign Het
Cd164l2 C A 4: 132,948,789 (GRCm39) L42I unknown Het
Cdc42ep2 T C 19: 5,968,238 (GRCm39) R156G probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdk5 T A 5: 24,624,459 (GRCm39) N265I probably benign Het
Cfap69 G T 5: 5,639,133 (GRCm39) N262K possibly damaging Het
Chd6 C T 2: 160,791,873 (GRCm39) V2495M probably damaging Het
Cps1 T A 1: 67,205,539 (GRCm39) F521I possibly damaging Het
Crb2 A G 2: 37,683,765 (GRCm39) E1089G probably benign Het
Decr1 T C 4: 15,929,795 (GRCm39) D166G probably damaging Het
Dhodh G A 8: 110,332,975 (GRCm39) probably benign Het
Dnaaf5 G A 5: 139,147,632 (GRCm39) V399I probably benign Het
Dnah11 T C 12: 118,121,096 (GRCm39) T526A probably benign Het
Drosha T C 15: 12,885,219 (GRCm39) probably benign Het
Elfn2 T A 15: 78,558,401 (GRCm39) I49F probably damaging Het
Gabra1 T C 11: 42,045,655 (GRCm39) T152A probably damaging Het
Gigyf2 C A 1: 87,292,988 (GRCm39) T85K probably damaging Het
Gimap8 A T 6: 48,628,017 (GRCm39) Y258F possibly damaging Het
Glmn A G 5: 107,709,752 (GRCm39) C351R probably benign Het
Gm10032 T C 14: 67,029,998 (GRCm39) noncoding transcript Het
Gorasp2 G A 2: 70,519,598 (GRCm39) A328T probably benign Het
Grin1 A T 2: 25,193,919 (GRCm39) H392Q probably benign Het
Gzmn A G 14: 56,405,319 (GRCm39) V55A probably damaging Het
Herc4 T A 10: 63,124,876 (GRCm39) S497T probably benign Het
Hrc A T 7: 44,985,515 (GRCm39) D222V probably damaging Het
Iars2 T C 1: 185,026,966 (GRCm39) H761R probably damaging Het
Kcng1 C T 2: 168,105,053 (GRCm39) M264I probably benign Het
Klra14-ps C A 6: 130,134,646 (GRCm39) noncoding transcript Het
Krtap5-3 T A 7: 141,755,974 (GRCm39) C270* probably null Het
Lama3 A G 18: 12,710,957 (GRCm39) H3164R probably damaging Het
Lcor T C 19: 41,574,371 (GRCm39) I1042T probably damaging Het
Mdn1 T C 4: 32,741,418 (GRCm39) M3840T possibly damaging Het
Mtor A T 4: 148,538,440 (GRCm39) H166L probably benign Het
Mx1 T C 16: 97,249,560 (GRCm39) N556D possibly damaging Het
Oca2 A T 7: 55,945,246 (GRCm39) R285* probably null Het
Or12d13 T A 17: 37,647,704 (GRCm39) I140F probably benign Het
Or2at1 A G 7: 99,416,717 (GRCm39) E116G probably damaging Het
Or4k39 T C 2: 111,239,631 (GRCm39) noncoding transcript Het
Or56a3b G A 7: 104,775,771 (GRCm39) H246Y probably damaging Het
Or8g33 A T 9: 39,337,919 (GRCm39) Y149* probably null Het
Pan3 A G 5: 147,391,915 (GRCm39) probably null Het
Pard3 G A 8: 128,104,745 (GRCm39) V496M probably damaging Het
Pdcd2l A T 7: 33,892,314 (GRCm39) V185D possibly damaging Het
Pgghg T C 7: 140,526,477 (GRCm39) V623A possibly damaging Het
Pigu C A 2: 155,177,249 (GRCm39) probably benign Het
Pkmyt1 G A 17: 23,951,566 (GRCm39) R40Q probably benign Het
Prag1 G A 8: 36,567,043 (GRCm39) A65T probably benign Het
Prkdc C A 16: 15,589,985 (GRCm39) T2616N possibly damaging Het
Prpf8 G A 11: 75,391,030 (GRCm39) E1360K probably benign Het
Ptprt C T 2: 162,120,084 (GRCm39) V128M probably damaging Het
Rp1l1 C T 14: 64,267,462 (GRCm39) S1016L probably benign Het
Rprd1a G T 18: 24,621,257 (GRCm39) D307E probably damaging Het
Slc11a1 A T 1: 74,422,936 (GRCm39) probably benign Het
Slc22a16 T A 10: 40,457,386 (GRCm39) M209K probably damaging Het
Slf2 T G 19: 44,936,476 (GRCm39) L707R probably damaging Het
Son T A 16: 91,453,563 (GRCm39) M770K probably damaging Het
Taf6l T C 19: 8,755,417 (GRCm39) probably benign Het
Tbc1d2 C A 4: 46,614,006 (GRCm39) V692L probably benign Het
Tnpo3 C T 6: 29,582,152 (GRCm39) probably benign Het
Txndc16 A T 14: 45,448,597 (GRCm39) probably benign Het
Ubr1 T C 2: 120,734,525 (GRCm39) K1125R probably benign Het
Vmn2r9 A G 5: 108,994,351 (GRCm39) S433P probably benign Het
Zc3h12a A G 4: 125,020,706 (GRCm39) S46P probably benign Het
Zwilch T G 9: 64,054,156 (GRCm39) I490L 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
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'- TTATAGGAGGTCCACACCCG -3'
(R):5'- GTTTCCAGCACTCTTTGAAAAGC -3'

Sequencing Primer
(F):5'- CCCGTGTGAAAACCAGGGTG -3'
(R):5'- GCACTCTTTGAAAAGCTTCCAG -3'
Posted On 2016-07-22