Incidental Mutation 'R7383:Jmjd1c'
ID 572883
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
MMRRC Submission 045465-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # R7383 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 66932189-67092105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67025537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 118 (N118I)
Ref Sequence ENSEMBL: ENSMUSP00000134551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174317] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect probably benign
Transcript: ENSMUST00000051446
AA Change: N118I

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: N118I

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173689
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876

DomainStartEndE-ValueType
Blast:JmjC 1 2056 N/A BLAST
JmjC 2084 2308 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174317
SMART Domains Protein: ENSMUSP00000134246
Gene: ENSMUSG00000037876

DomainStartEndE-ValueType
Blast:JmjC 1 744 N/A BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174408
AA Change: N118I

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: N118I

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: 99.8%
  • 20x: 99.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 T A 11: 5,818,548 (GRCm39) I511N probably damaging Het
Ap5m1 T G 14: 49,311,653 (GRCm39) V241G possibly damaging Het
BC049715 T A 6: 136,817,453 (GRCm39) I231N probably damaging Het
Bckdhb T G 9: 83,835,766 (GRCm39) V90G possibly damaging Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Chd8 T C 14: 52,452,776 (GRCm39) I1248V probably damaging Het
Ckap2l A T 2: 129,111,172 (GRCm39) M675K possibly damaging Het
Ckap4 A T 10: 84,364,148 (GRCm39) V305E probably damaging Het
Clasrp C A 7: 19,319,198 (GRCm39) R489L unknown Het
Col24a1 A G 3: 145,004,599 (GRCm39) I26V probably benign Het
Cort C T 4: 149,209,861 (GRCm39) A64T possibly damaging Het
Dmkn T A 7: 30,464,793 (GRCm39) N255K unknown Het
Dph2 A T 4: 117,748,566 (GRCm39) L69Q probably damaging Het
Fbxo11 A G 17: 88,310,282 (GRCm39) I432T Het
Fgd3 T C 13: 49,421,785 (GRCm39) K531R possibly damaging Het
Fgd5 A G 6: 91,964,099 (GRCm39) K111E probably benign Het
Gdf6 T A 4: 9,859,537 (GRCm39) D206E probably benign Het
Gtpbp1 T A 15: 79,600,354 (GRCm39) L429Q probably damaging Het
Hk2 A G 6: 82,726,276 (GRCm39) F90S probably damaging Het
Hrnr A T 3: 93,239,098 (GRCm39) Q3112L unknown Het
Hsd17b4 A C 18: 50,297,917 (GRCm39) K402T probably benign Het
Htr1f T C 16: 64,747,206 (GRCm39) T29A probably benign Het
Ikbkb C A 8: 23,159,066 (GRCm39) A471S probably benign Het
Inpp5f A G 7: 128,296,310 (GRCm39) D887G probably damaging Het
Ipo9 A G 1: 135,316,411 (GRCm39) L805P probably damaging Het
Kif26b T G 1: 178,358,275 (GRCm39) C129G probably damaging Het
Mga G A 2: 119,790,821 (GRCm39) A2236T probably damaging Het
Micu2 T C 14: 58,154,810 (GRCm39) Q405R possibly damaging Het
Myo1e T A 9: 70,204,577 (GRCm39) V59D probably damaging Het
Nav3 A G 10: 109,552,532 (GRCm39) I1770T probably damaging Het
Ndufa10 A T 1: 92,392,183 (GRCm39) I190N probably damaging Het
Niban3 A C 8: 72,056,470 (GRCm39) E390A possibly damaging Het
Npat T A 9: 53,474,078 (GRCm39) H623Q probably benign Het
Npc1l1 T C 11: 6,167,777 (GRCm39) T1005A probably benign Het
Or10ag58 A G 2: 87,265,721 (GRCm39) S297G possibly damaging Het
Or14c39 A T 7: 86,343,960 (GRCm39) I99F probably damaging Het
Or1e22 A G 11: 73,376,715 (GRCm39) *312Q probably null Het
Or2b4 A G 17: 38,116,972 (GRCm39) K312R probably benign Het
Or2w3 T C 11: 58,557,011 (GRCm39) S209P possibly damaging Het
Or5t7 A G 2: 86,507,263 (GRCm39) V138A possibly damaging Het
Or8s8 C G 15: 98,354,578 (GRCm39) P129R probably damaging Het
Pafah1b2 C T 9: 45,880,147 (GRCm39) G177R probably benign Het
Phc1 A G 6: 122,300,317 (GRCm39) S521P unknown Het
Plpp2 A T 10: 79,366,841 (GRCm39) L25Q probably null Het
Plxna4 A G 6: 32,129,734 (GRCm39) probably null Het
Ppl G T 16: 4,915,835 (GRCm39) P576Q probably damaging Het
Rab38 T C 7: 88,079,637 (GRCm39) Y10H possibly damaging Het
Rbfox1 G A 16: 6,887,899 (GRCm39) G13S probably benign Het
Rhot1 C G 11: 80,114,760 (GRCm39) P56R probably damaging Het
Sipa1l2 A G 8: 126,174,385 (GRCm39) W1298R probably damaging Het
Slc16a14 G A 1: 84,890,292 (GRCm39) H338Y probably damaging Het
Slc8a3 T G 12: 81,362,579 (GRCm39) Y80S probably damaging Het
Slco6c1 A T 1: 97,003,608 (GRCm39) Y513* probably null Het
Smarcd2 A G 11: 106,155,602 (GRCm39) C405R probably damaging Het
Szt2 G A 4: 118,222,411 (GRCm39) R3198* probably null Het
Tmeff1 T A 4: 48,636,841 (GRCm39) C180S probably damaging Het
Tmem132a A T 19: 10,844,358 (GRCm39) M80K probably benign Het
Tnfsf12 A G 11: 69,577,892 (GRCm39) V175A probably damaging Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Togaram2 A T 17: 72,007,512 (GRCm39) I354F probably damaging Het
Uchl5 T A 1: 143,659,753 (GRCm39) S42R probably benign Het
Virma C A 4: 11,514,026 (GRCm39) L627I probably damaging Het
Vmn2r12 A T 5: 109,240,684 (GRCm39) I143K probably benign Het
Vmn2r95 T G 17: 18,660,734 (GRCm39) V382G probably benign Het
Wipf3 G T 6: 54,462,263 (GRCm39) A158S probably benign Het
Ylpm1 T G 12: 85,091,242 (GRCm39) S1809A possibly damaging Het
Zdhhc5 A T 2: 84,524,748 (GRCm39) C191S probably benign Het
Zer1 G A 2: 30,001,253 (GRCm39) R84C probably damaging Het
Zfhx2 A T 14: 55,305,710 (GRCm39) V991D probably benign Het
Zscan4b C A 7: 10,637,960 (GRCm39) M61I possibly damaging Het
Zswim2 A T 2: 83,745,672 (GRCm39) S589T 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
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
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
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'- AGAAACATACACGTGTGCTTGG -3'
(R):5'- AGTCCCAGCACAAATTTATTGC -3'

Sequencing Primer
(F):5'- GAAACATACACGTGTGCTTGGTAGTC -3'
(R):5'- AGCACAAATTTATTGCTAAGTAATGC -3'
Posted On 2019-09-13