Incidental Mutation 'R7908:Jmjd1c'
ID 610293
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # R7908 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 66932189-67092105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67061621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1144 (S1144P)
Ref Sequence ENSEMBL: ENSMUSP00000133700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174317] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect probably benign
Transcript: ENSMUST00000051446
AA Change: S1325P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: S1325P

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173689
AA Change: S1144P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: S1144P

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: S1325P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: S1325P

DomainStartEndE-ValueType
Blast:JmjC 143 2237 N/A BLAST
JmjC 2265 2489 3.29e-53 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,577 (GRCm39) F69L probably benign Het
Acsf3 A G 8: 123,512,562 (GRCm39) M328V probably damaging Het
Adam10 T G 9: 70,669,046 (GRCm39) V454G possibly damaging Het
Adamts15 T C 9: 30,813,522 (GRCm39) D881G probably benign Het
Adamtsl1 T C 4: 86,274,676 (GRCm39) V1244A probably benign Het
Ankfn1 G A 11: 89,296,360 (GRCm39) P123L probably damaging Het
Aox1 T C 1: 58,145,227 (GRCm39) I1331T possibly damaging Het
Atg14 T A 14: 47,806,050 (GRCm39) probably benign Het
Bmal1 A T 7: 112,912,680 (GRCm39) I579L probably benign Het
Btnl4 A G 17: 34,692,161 (GRCm39) M147T possibly damaging Het
Camk1g T C 1: 193,042,082 (GRCm39) K56E probably damaging Het
Capn7 T C 14: 31,088,202 (GRCm39) probably null Het
Cbln1 T A 8: 88,198,724 (GRCm39) T49S probably benign Het
Cc2d2a T C 5: 43,864,188 (GRCm39) V763A probably benign Het
Cdc40 A G 10: 40,724,042 (GRCm39) Y249H probably damaging Het
Cfap61 T A 2: 145,944,019 (GRCm39) L762H probably damaging Het
Cfap68 T A 9: 50,675,248 (GRCm39) T153S possibly damaging Het
Cfap73 T C 5: 120,768,123 (GRCm39) T212A probably benign Het
Cfi A G 3: 129,642,233 (GRCm39) E29G probably benign Het
Chmp6 A T 11: 119,804,656 (GRCm39) probably benign Het
Clec14a T C 12: 58,314,465 (GRCm39) T386A possibly damaging Het
Coq6 T A 12: 84,417,940 (GRCm39) L268H probably damaging Het
Cpt1a T C 19: 3,412,202 (GRCm39) S225P probably benign Het
Dhx58 C A 11: 100,586,130 (GRCm39) L630F probably damaging Het
Dlg2 T A 7: 91,549,981 (GRCm39) V158E probably damaging Het
Fcgbpl1 A T 7: 27,846,921 (GRCm39) Y1168F probably benign Het
Foxd3 A G 4: 99,545,576 (GRCm39) T239A probably benign Het
Galnt6 T C 15: 100,601,242 (GRCm39) T346A probably damaging Het
Guca1b C G 17: 47,702,102 (GRCm39) T185S unknown Het
H2-M5 T C 17: 37,298,571 (GRCm39) T292A probably benign Het
Hlx T C 1: 184,459,773 (GRCm39) H455R probably benign Het
Hydin A G 8: 111,237,499 (GRCm39) Y1924C probably benign Het
Ighg2b C T 12: 113,270,074 (GRCm39) V315M Het
Ildr2 A G 1: 166,135,369 (GRCm39) K374E probably damaging Het
Kcnj8 T C 6: 142,511,755 (GRCm39) D284G probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Lingo4 A G 3: 94,309,541 (GRCm39) T160A probably benign Het
Lmod3 G T 6: 97,225,434 (GRCm39) A129E probably benign Het
Lrrk2 T C 15: 91,610,355 (GRCm39) C696R probably damaging Het
Mc2r A G 18: 68,541,036 (GRCm39) F86L probably benign Het
Mppe1 T G 18: 67,362,055 (GRCm39) K170T probably benign Het
Mtcl1 A G 17: 66,678,325 (GRCm39) I667T possibly damaging Het
Mtnr1a A T 8: 45,540,863 (GRCm39) I275F probably benign Het
Myh2 A G 11: 67,088,197 (GRCm39) I1938V probably benign Het
Npsr1 A T 9: 24,201,096 (GRCm39) E160V probably damaging Het
Or13c7b T A 4: 43,821,086 (GRCm39) I92F probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or6c3 T A 10: 129,308,867 (GRCm39) I102N probably damaging Het
Ovch2 T A 7: 107,388,326 (GRCm39) Y418F probably damaging Het
Pak5 A G 2: 135,958,479 (GRCm39) L203S probably benign Het
Pcdh15 A T 10: 74,479,414 (GRCm39) E508D probably benign Het
Prl7a1 T C 13: 27,826,433 (GRCm39) M1V probably null Het
Prorp A T 12: 55,426,250 (GRCm39) K533N possibly damaging Het
Prpsap2 G T 11: 61,647,098 (GRCm39) N14K possibly damaging Het
Rad54b T A 4: 11,595,868 (GRCm39) V215E probably null Het
Ryr2 G A 13: 11,807,634 (GRCm39) T845I probably benign Het
Scgb2b3 G A 7: 31,061,439 (GRCm39) T20I probably damaging Het
Serpina1b T C 12: 103,694,566 (GRCm39) I393V possibly damaging Het
Slc13a5 T C 11: 72,149,890 (GRCm39) M207V probably benign Het
Slc49a3 T C 5: 108,592,363 (GRCm39) I276V probably benign Het
Smg1 A T 7: 117,785,357 (GRCm39) L843M unknown Het
Sp100 T C 1: 85,635,788 (GRCm39) V531A possibly damaging Het
Srsf6 T C 2: 162,775,760 (GRCm39) S190P unknown Het
Stil A G 4: 114,889,896 (GRCm39) K795E possibly damaging Het
Sugp2 A G 8: 70,704,577 (GRCm39) R705G probably benign Het
Tnfrsf11a T A 1: 105,737,099 (GRCm39) C69S probably damaging Het
Trim30a A T 7: 104,070,656 (GRCm39) N252K probably benign Het
Tshz1 T A 18: 84,032,732 (GRCm39) K559* probably null Het
Ttbk1 C T 17: 46,789,864 (GRCm39) R133H probably damaging Het
Vmn1r1 T C 1: 181,984,915 (GRCm39) Y250C probably benign Het
Vmn2r12 A G 5: 109,234,307 (GRCm39) L635P probably damaging Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vwa5b1 A T 4: 138,296,481 (GRCm39) L1182* probably null Het
Washc2 A G 6: 116,225,106 (GRCm39) D818G probably benign Het
Xylb T G 9: 119,210,611 (GRCm39) S365A probably benign Het
Zcchc8 T C 5: 123,858,783 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,345,986 (GRCm39) I1455T 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
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
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'- GTGGAGATCTAATAACAACCTCAAC -3'
(R):5'- TCAAGCTGGAGACACTGGTG -3'

Sequencing Primer
(F):5'- ACCTCAACAGAGAGAAAGCTG -3'
(R):5'- CACATCTGCTTTGGTAGTAGAGAC -3'
Posted On 2019-12-20