Incidental Mutation 'R7502:Jmjd1c'
ID 581566
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
MMRRC Submission 045575-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.662) question?
Stock # R7502 (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 G at 67067794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1585 (S1585A)
Ref Sequence ENSEMBL: ENSMUSP00000133700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect probably damaging
Transcript: ENSMUST00000051446
AA Change: S1765A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: S1765A

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173689
AA Change: S1585A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: S1585A

DomainStartEndE-ValueType
Blast:JmjC 1 2056 N/A BLAST
JmjC 2084 2308 3.29e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174408
AA Change: S1766A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: S1766A

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: 99.1%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,743,951 (GRCm39) T661A probably damaging Het
Actrt2 T C 4: 154,751,383 (GRCm39) Y251C probably benign Het
Adat3 T A 10: 80,442,255 (GRCm39) V31D probably damaging Het
Adgrf4 T C 17: 42,980,548 (GRCm39) H179R possibly damaging Het
Ahcyl1 A T 3: 107,578,513 (GRCm39) Y241* probably null Het
Anks1 C A 17: 28,227,114 (GRCm39) T589K possibly damaging Het
Arhgap15 A G 2: 43,670,630 (GRCm39) T5A probably benign Het
Cacna1e A T 1: 154,344,734 (GRCm39) M1130K probably null Het
Ccdc121rt1 G A 1: 181,338,443 (GRCm39) Q170* probably null Het
Ceacam18 A T 7: 43,286,298 (GRCm39) D57V probably damaging Het
Celf1 C T 2: 90,835,100 (GRCm39) Q194* probably null Het
Celsr2 T A 3: 108,306,218 (GRCm39) T2029S probably benign Het
Cep170 T C 1: 176,583,595 (GRCm39) D163G probably damaging Het
Cfap210 A T 2: 69,606,488 (GRCm39) D309E probably benign Het
Cftr T C 6: 18,214,295 (GRCm39) F157S probably damaging Het
Chchd3 T C 6: 32,945,164 (GRCm39) E114G probably damaging Het
Cntnap2 T A 6: 46,460,963 (GRCm39) S666R possibly damaging Het
Col6a5 C T 9: 105,753,075 (GRCm39) V2266I probably benign Het
Ctr9 A G 7: 110,633,133 (GRCm39) D127G probably benign Het
Ctsl A T 13: 64,514,882 (GRCm39) F141I probably damaging Het
Dcpp1 T A 17: 24,101,615 (GRCm39) Y121* probably null Het
Ddx42 T C 11: 106,138,565 (GRCm39) V788A probably benign Het
Ehd4 T C 2: 119,921,874 (GRCm39) I461V probably benign Het
Elp6 C A 9: 110,134,376 (GRCm39) L5I possibly damaging Het
Faap20 T C 4: 155,334,793 (GRCm39) S2P Het
Fam98b A C 2: 117,094,344 (GRCm39) Y218S probably damaging Het
Fbxl4 T A 4: 22,376,655 (GRCm39) D30E probably benign Het
Fcrlb T C 1: 170,736,210 (GRCm39) T189A probably damaging Het
Gfpt1 A G 6: 87,043,671 (GRCm39) D302G probably benign Het
Gzmg T G 14: 56,394,284 (GRCm39) E203D not run Het
Hsph1 A C 5: 149,553,838 (GRCm39) V210G probably damaging Het
Il20rb A T 9: 100,350,479 (GRCm39) M138K probably damaging Het
Itpr1 A T 6: 108,360,639 (GRCm39) E688D probably benign Het
Kcnk3 A T 5: 30,780,062 (GRCm39) T371S possibly damaging Het
Kif11 T A 19: 37,398,255 (GRCm39) S694T possibly damaging Het
Kpna7 T A 5: 144,942,731 (GRCm39) H85L probably benign Het
Lipf A T 19: 33,954,006 (GRCm39) I366F probably damaging Het
Lrrc27 A G 7: 138,794,748 (GRCm39) H37R probably benign Het
Mki67 T C 7: 135,302,512 (GRCm39) T841A possibly damaging Het
Mtss1 A G 15: 58,820,210 (GRCm39) S120P probably damaging Het
Nav1 A G 1: 135,397,404 (GRCm39) W922R probably damaging Het
Nwd1 A G 8: 73,434,021 (GRCm39) E1206G probably damaging Het
Obscn T C 11: 58,885,635 (GRCm39) S7933G unknown Het
Or13j1 T C 4: 43,706,316 (GRCm39) H84R probably damaging Het
Or1p4-ps1 T C 11: 74,208,010 (GRCm39) V53A probably benign Het
Or2g25 T A 17: 37,971,122 (GRCm39) Y34F probably damaging Het
Or2k2 T C 4: 58,785,648 (GRCm39) I25V probably benign Het
Or4c52 T C 2: 89,845,355 (GRCm39) L27S probably benign Het
Otog A T 7: 45,948,039 (GRCm39) I162F probably damaging Het
Paf1 G A 7: 28,095,293 (GRCm39) V153I possibly damaging Het
Pcdhga11 T A 18: 37,889,554 (GRCm39) D187E probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitrm1 G T 13: 6,610,658 (GRCm39) R424L probably damaging Het
Pla2g4e T A 2: 120,004,819 (GRCm39) probably null Het
Plaat1 T C 16: 29,046,919 (GRCm39) V146A probably benign Het
Prorp T C 12: 55,351,206 (GRCm39) Y172H probably damaging Het
Prrc2a T C 17: 35,381,286 (GRCm39) N61S unknown Het
Ror1 T A 4: 100,190,827 (GRCm39) D61E probably benign Het
Ryr3 G A 2: 112,542,706 (GRCm39) P3168S probably benign Het
Serinc4 T A 2: 121,284,250 (GRCm39) I289F probably damaging Het
Sez6l A T 5: 112,623,347 (GRCm39) L68H possibly damaging Het
Sez6l2 A G 7: 126,560,915 (GRCm39) E460G probably benign Het
Sh3tc1 C T 5: 35,863,406 (GRCm39) G927D probably damaging Het
Slc22a27 G C 19: 7,903,747 (GRCm39) T130S probably damaging Het
Slc38a8 C A 8: 120,227,820 (GRCm39) A37S possibly damaging Het
Slc40a1 T C 1: 45,958,134 (GRCm39) N100D probably damaging Het
Slc49a3 G A 5: 108,591,646 (GRCm39) probably null Het
Snx30 T C 4: 59,894,567 (GRCm39) F382L possibly damaging Het
Sox1 A G 8: 12,446,913 (GRCm39) N185D possibly damaging Het
Spsb1 C T 4: 149,991,385 (GRCm39) R61H possibly damaging Het
Sptbn2 T C 19: 4,798,110 (GRCm39) V1945A probably benign Het
St18 T A 1: 6,898,194 (GRCm39) N665K probably benign Het
Syne1 A G 10: 5,283,446 (GRCm39) S1540P probably damaging Het
Syne2 G A 12: 76,141,100 (GRCm39) V1331M probably damaging Het
Tfap2c T C 2: 172,393,639 (GRCm39) S185P probably benign Het
Tnfsf8 T A 4: 63,769,398 (GRCm39) D71V probably damaging Het
Tnn T C 1: 159,937,929 (GRCm39) D1196G probably benign Het
Ttll8 A G 15: 88,817,639 (GRCm39) probably null Het
Tubgcp3 A G 8: 12,691,207 (GRCm39) F444L probably damaging Het
Txndc11 G A 16: 10,905,742 (GRCm39) P596L probably benign Het
Ubr4 C T 4: 139,139,983 (GRCm39) P1189S possibly damaging Het
Usp32 T C 11: 84,913,724 (GRCm39) D869G possibly damaging Het
Vmn1r202 G T 13: 22,686,188 (GRCm39) N76K probably damaging Het
Wfdc6a C T 2: 164,421,761 (GRCm39) M132I probably benign Het
Wnk2 A T 13: 49,300,720 (GRCm39) probably null Het
Xbp1 A G 11: 5,474,683 (GRCm39) probably null Het
Zfp551 A T 7: 12,149,725 (GRCm39) Y561* probably null 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
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'- TGAGCTTTAGATCCCCAACCC -3'
(R):5'- TTTTCACCCAGGACAACGC -3'

Sequencing Primer
(F):5'- CACTGTCACTATATAATGCCTGAGAC -3'
(R):5'- AGGACAACGCTGTTTTCTCAGAC -3'
Posted On 2019-10-17