Incidental Mutation 'R9262:Jmjd1c'
ID 702326
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.662) question?
Stock # R9262 (G1)
Quality Score 216.009
Status Validated
Chromosome 10
Chromosomal Location 66932189-67092105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67083793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 2173 (I2173T)
Ref Sequence ENSEMBL: ENSMUSP00000133700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect probably benign
Transcript: ENSMUST00000051446
AA Change: I2353T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: I2353T

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173689
AA Change: I2173T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: I2173T

DomainStartEndE-ValueType
Blast:JmjC 1 2056 N/A BLAST
JmjC 2084 2308 3.29e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174408
AA Change: I2354T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: I2354T

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 97% (73/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,443,375 (GRCm39) H192L unknown Het
Abca4 T A 3: 121,964,639 (GRCm39) C2149S probably damaging Het
Abl2 G A 1: 156,469,820 (GRCm39) G1028D possibly damaging Het
Adgre1 A G 17: 57,754,941 (GRCm39) T680A probably damaging Het
Amn G A 12: 111,237,585 (GRCm39) W10* probably null Het
Ankhd1 G T 18: 36,765,799 (GRCm39) V140F Het
Asnsd1 A T 1: 53,383,934 (GRCm39) N613K probably benign Het
Bbs2 A T 8: 94,807,543 (GRCm39) I417N probably damaging Het
Cad T A 5: 31,225,009 (GRCm39) W971R probably null Het
Cand2 A T 6: 115,759,730 (GRCm39) I134F probably benign Het
Ccdc154 C A 17: 25,389,160 (GRCm39) H453N probably damaging Het
Ccdc168 A G 1: 44,096,269 (GRCm39) S1610P possibly damaging Het
Ccdc7a T A 8: 129,486,277 (GRCm39) H1601L possibly damaging Het
Ccdc9 A C 7: 16,012,400 (GRCm39) S261A probably benign Het
Cdkl3 T A 11: 51,916,702 (GRCm39) S277T probably benign Het
Cipc T A 12: 86,999,497 (GRCm39) Y8* probably null Het
Cramp1 A G 17: 25,232,920 (GRCm39) S27P probably damaging Het
Csf1r A T 18: 61,243,406 (GRCm39) M141L probably benign Het
Csf2rb2 G T 15: 78,168,535 (GRCm39) F873L probably damaging Het
Dchs1 G A 7: 105,404,833 (GRCm39) R2570W probably damaging Het
Dmxl1 A T 18: 49,976,919 (GRCm39) N94Y probably benign Het
Dnajc10 A G 2: 80,176,965 (GRCm39) K640R probably benign Het
Epha8 A C 4: 136,658,995 (GRCm39) H886Q probably benign Het
Fcgbp G C 7: 27,819,952 (GRCm39) D2560H probably damaging Het
Fry T G 5: 150,305,109 (GRCm39) F605V probably damaging Het
Fsip2 A G 2: 82,807,662 (GRCm39) N1327S probably benign Het
Gm12117 T C 11: 33,226,001 (GRCm39) T112A probably benign Het
Gm3604 A T 13: 62,517,697 (GRCm39) N220K probably damaging Het
Gm572 T C 4: 148,735,652 (GRCm39) V27A probably benign Het
Gpr39 A G 1: 125,800,524 (GRCm39) K425R probably benign Het
Heatr3 A G 8: 88,883,097 (GRCm39) D349G probably benign Het
Hip1 A G 5: 135,478,541 (GRCm39) S248P probably damaging Het
Itga11 A G 9: 62,659,678 (GRCm39) probably benign Het
Itga3 C T 11: 94,956,625 (GRCm39) V210I probably benign Het
Klf13 G A 7: 63,574,456 (GRCm39) Q21* probably null Het
Kmt2a A T 9: 44,731,222 (GRCm39) S3032T probably benign Het
Krt34 T C 11: 99,930,851 (GRCm39) R184G probably benign Het
Krtap16-1 T C 11: 99,876,994 (GRCm39) T137A probably benign Het
Ldc1 A G 4: 130,114,153 (GRCm39) V88A possibly damaging Het
Mgam T C 6: 40,723,422 (GRCm39) probably null Het
Mog T C 17: 37,325,648 (GRCm39) T196A possibly damaging Het
Ms4a6d T C 19: 11,579,216 (GRCm39) Y87C possibly damaging Het
Ndrg4 C T 8: 96,435,812 (GRCm39) probably benign Het
Nsd1 T A 13: 55,394,871 (GRCm39) M927K possibly damaging Het
Or11l3 T A 11: 58,516,282 (GRCm39) M197L probably benign Het
Or4a73 G T 2: 89,421,435 (GRCm39) T8K probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pcdhac2 A G 18: 37,279,095 (GRCm39) R692G possibly damaging Het
Pcsk4 T A 10: 80,160,864 (GRCm39) S321C probably damaging Het
Pi4ka A G 16: 17,120,859 (GRCm39) F1292L Het
Pigv G T 4: 133,397,110 (GRCm39) P6Q possibly damaging Het
Pkhd1 A C 1: 20,618,351 (GRCm39) S927A probably benign Het
Pnpla3 A T 15: 84,055,363 (GRCm39) I90F probably benign Het
Pole C A 5: 110,473,422 (GRCm39) L1739I probably damaging Het
Pole T A 5: 110,473,423 (GRCm39) L1739H probably damaging Het
Rbm12 A T 2: 155,939,317 (GRCm39) N318K possibly damaging Het
Rpl18a A T 8: 71,348,179 (GRCm39) L168Q probably benign Het
Ryr2 T C 13: 11,765,854 (GRCm39) N1294S probably damaging Het
Sema5b T C 16: 35,453,223 (GRCm39) L98P possibly damaging Het
Slco1a8 G T 6: 141,926,594 (GRCm39) F597L probably damaging Het
Smg7 A G 1: 152,721,262 (GRCm39) V650A probably damaging Het
Spata31d1e T C 13: 59,890,402 (GRCm39) M473V probably benign Het
Strada C T 11: 106,075,444 (GRCm39) R13Q probably damaging Het
Sun1 T C 5: 139,200,918 (GRCm39) S37P unknown Het
Syce1l T C 8: 114,380,738 (GRCm39) probably null Het
Tdg T A 10: 82,480,507 (GRCm39) F263L probably damaging Het
Tead3 G T 17: 28,560,495 (GRCm39) S36R probably benign Het
Timm44 A G 8: 4,310,621 (GRCm39) L377P probably damaging Het
Tk1 C T 11: 117,716,581 (GRCm39) V9M probably benign Het
Trim36 A G 18: 46,300,506 (GRCm39) Y722H probably benign Het
Ttn A T 2: 76,640,232 (GRCm39) M13792K possibly damaging Het
Unc80 A G 1: 66,594,411 (GRCm39) probably benign Het
Usp46 G T 5: 74,189,965 (GRCm39) A133E probably benign Het
Wnk2 T A 13: 49,221,430 (GRCm39) R1240S probably benign Het
Zfp821 G A 8: 110,450,982 (GRCm39) R325Q 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
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
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
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'- GGGTCACATTCCAGACTTTGTTG -3'
(R):5'- TAGTCCACGCTCAAAGCAG -3'

Sequencing Primer
(F):5'- AATTCCACGGTAGTTTGTGCTAC -3'
(R):5'- TCCACGCTCAAAGCAGGAGTG -3'
Posted On 2022-03-25