Incidental Mutation 'R1968:Jmjd1c'
ID 219251
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
MMRRC Submission 039981-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.662) question?
Stock # R1968 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 66932189-67092105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67061219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 1191 (S1191C)
Ref Sequence ENSEMBL: ENSMUSP00000134551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174317] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect probably damaging
Transcript: ENSMUST00000051446
AA Change: S1191C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: S1191C

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173689
AA Change: S1010C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: S1010C

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 damaging
Transcript: ENSMUST00000174408
AA Change: S1191C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: S1191C

DomainStartEndE-ValueType
Blast:JmjC 143 2237 N/A BLAST
JmjC 2265 2489 3.29e-53 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,397,193 (GRCm39) Y180H possibly damaging Het
Abcc10 A T 17: 46,633,125 (GRCm39) L528Q probably damaging Het
Adam18 T A 8: 25,136,463 (GRCm39) T353S probably benign Het
Aldh1a3 A G 7: 66,061,248 (GRCm39) probably null Het
Aldh3b2 T A 19: 4,030,705 (GRCm39) M390K probably benign Het
Arhgap45 T C 10: 79,863,536 (GRCm39) I793T probably damaging Het
Arsb A G 13: 93,944,067 (GRCm39) M253V probably benign Het
Atcay T C 10: 81,048,312 (GRCm39) D258G possibly damaging Het
Atf1 G T 15: 100,152,395 (GRCm39) probably null Het
Atp1a4 C T 1: 172,067,731 (GRCm39) E511K probably benign Het
Atp8a1 A G 5: 67,825,000 (GRCm39) V777A probably benign Het
Baz1a T C 12: 54,947,122 (GRCm39) T1173A possibly damaging Het
Bdh2 A T 3: 134,991,370 (GRCm39) D15V probably benign Het
Cacna1e T C 1: 154,576,240 (GRCm39) Y69C probably damaging Het
Caskin2 A G 11: 115,694,440 (GRCm39) L387P probably benign Het
Cat T C 2: 103,315,334 (GRCm39) E17G probably benign Het
Ccdc15 T C 9: 37,259,091 (GRCm39) I54M probably benign Het
Ccn1 T C 3: 145,353,965 (GRCm39) Y275C probably damaging Het
Cdhr1 T G 14: 36,801,682 (GRCm39) I754L probably benign Het
Cep120 G A 18: 53,856,313 (GRCm39) T368I probably benign Het
Cep126 C A 9: 8,100,909 (GRCm39) D542Y probably damaging Het
Cep135 T C 5: 76,772,594 (GRCm39) S660P possibly damaging Het
Cfap70 A T 14: 20,470,879 (GRCm39) S455R possibly damaging Het
Chd8 A G 14: 52,458,450 (GRCm39) M886T probably damaging Het
Ckap5 T C 2: 91,416,688 (GRCm39) S1098P probably benign Het
Clec4e A T 6: 123,260,533 (GRCm39) I204N probably damaging Het
Cntnap5c G A 17: 58,666,291 (GRCm39) R1107H probably damaging Het
Cramp1 T C 17: 25,183,913 (GRCm39) D1234G probably damaging Het
Csf1r A T 18: 61,245,867 (GRCm39) I275L probably benign Het
Cyp27a1 A G 1: 74,776,435 (GRCm39) E457G probably benign Het
Cyp2d11 T C 15: 82,273,749 (GRCm39) T410A probably benign Het
Cyp2d22 G C 15: 82,257,373 (GRCm39) T264S probably benign Het
Daam2 G A 17: 49,790,088 (GRCm39) R390W probably damaging Het
Decr2 T C 17: 26,302,053 (GRCm39) S226G probably benign Het
Dennd6b T C 15: 89,074,544 (GRCm39) D91G possibly damaging Het
Dglucy T C 12: 100,825,903 (GRCm39) V515A possibly damaging Het
Dlg5 A T 14: 24,214,187 (GRCm39) L734* probably null Het
Dop1b A G 16: 93,579,307 (GRCm39) N1690D probably damaging Het
Exoc5 A G 14: 49,272,347 (GRCm39) Y356H probably benign Het
Fut7 T A 2: 25,315,738 (GRCm39) V332D probably benign Het
Gnas T C 2: 174,140,526 (GRCm39) S232P probably damaging Het
Gramd4 A G 15: 86,017,106 (GRCm39) E522G probably damaging Het
Gys1 A G 7: 45,092,970 (GRCm39) T297A probably damaging Het
Herc4 T C 10: 63,109,304 (GRCm39) S180P probably benign Het
Hivep3 C T 4: 119,953,435 (GRCm39) P584S possibly damaging Het
Irag2 T A 6: 145,115,499 (GRCm39) S310T probably damaging Het
Itpk1 G T 12: 102,641,729 (GRCm39) probably null Het
Lima1 T C 15: 99,717,565 (GRCm39) N147S probably benign Het
Map4k5 G A 12: 69,865,266 (GRCm39) T506I probably damaging Het
Mat1a A T 14: 40,832,991 (GRCm39) E58V probably damaging Het
Mfsd13a T C 19: 46,360,492 (GRCm39) L348P probably damaging Het
Mon2 A G 10: 122,845,470 (GRCm39) Y1413H probably damaging Het
Mpp3 C A 11: 101,909,378 (GRCm39) probably benign Het
Mpp4 T A 1: 59,183,961 (GRCm39) I260F probably damaging Het
Myocd C A 11: 65,091,733 (GRCm39) G70C probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nckap5 T A 1: 125,942,367 (GRCm39) D209V probably damaging Het
Nlrp9a A G 7: 26,264,366 (GRCm39) K707R probably benign Het
Npr3 A G 15: 11,905,055 (GRCm39) L224S probably benign Het
Or5m9b T A 2: 85,905,549 (GRCm39) L155Q probably damaging Het
Or5w20 T A 2: 87,727,383 (GRCm39) V280E probably damaging Het
Or6c74 A G 10: 129,869,602 (GRCm39) S36G probably damaging Het
Otof C T 5: 30,545,998 (GRCm39) D467N probably damaging Het
Paxx T C 2: 25,350,640 (GRCm39) probably benign Het
Pcmt1 G A 10: 7,516,474 (GRCm39) R179* probably null Het
Phkb T A 8: 86,697,580 (GRCm39) V463D probably benign Het
Prkcq T C 2: 11,250,208 (GRCm39) V175A probably damaging Het
Rasl11b T G 5: 74,356,797 (GRCm39) I58S probably damaging Het
Rb1cc1 A T 1: 6,318,419 (GRCm39) probably null Het
Reck T A 4: 43,913,771 (GRCm39) probably null Het
Riox1 G T 12: 83,998,156 (GRCm39) D231Y probably damaging Het
Rlf T A 4: 121,005,617 (GRCm39) N1231I probably damaging Het
Rpn1 A G 6: 88,072,530 (GRCm39) D291G possibly damaging Het
Samsn1 C T 16: 75,742,461 (GRCm39) noncoding transcript Het
Scara5 T C 14: 65,927,249 (GRCm39) C49R possibly damaging Het
Serpini1 A G 3: 75,521,785 (GRCm39) D92G probably benign Het
Setdb2 A T 14: 59,656,858 (GRCm39) L153Q probably damaging Het
Sh3rf3 C T 10: 58,649,809 (GRCm39) T138M probably benign Het
Shkbp1 C T 7: 27,054,825 (GRCm39) probably null Het
Slc22a29 G A 19: 8,195,707 (GRCm39) P111S probably benign Het
Smarca1 A G X: 46,941,564 (GRCm39) V618A probably damaging Het
Spef2 T A 15: 9,609,602 (GRCm39) M1308L probably damaging Het
Spink5 A G 18: 44,123,775 (GRCm39) N354S probably benign Het
Srrm2 T C 17: 24,040,465 (GRCm39) S2370P probably damaging Het
Ssxb3 A T X: 8,454,905 (GRCm39) I28N probably damaging Het
Sucla2 A G 14: 73,831,119 (GRCm39) T411A probably damaging Het
Tex38 A C 4: 115,637,537 (GRCm39) S89A probably benign Het
Tjp2 A T 19: 24,088,437 (GRCm39) D723E probably damaging Het
Tln2 A T 9: 67,163,183 (GRCm39) N1121K probably damaging Het
Tti1 T C 2: 157,850,966 (GRCm39) E91G possibly damaging Het
Wbp2 A T 11: 115,973,191 (GRCm39) M72K possibly damaging Het
Wdfy4 C A 14: 32,828,001 (GRCm39) C1062F possibly damaging Het
Wiz A G 17: 32,578,346 (GRCm39) Y389H probably damaging Het
Zcchc3 T C 2: 152,256,012 (GRCm39) K229R probably damaging Het
Zmat3 C A 3: 32,415,131 (GRCm39) D60Y probably 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
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
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'- GTGGTCAATGAGCCACCAAG -3'
(R):5'- CAGGAATTAGAGTTGGAGGCTTC -3'

Sequencing Primer
(F):5'- GATCCTACCCATCCAAAGAAGTTTC -3'
(R):5'- CTGAGATTCTTGAACTTTGCCACCAG -3'
Posted On 2014-08-25