Incidental Mutation 'R0133:Jmjd1c'
ID 21764
Institutional Source Beutler Lab
Gene Symbol Jmjd1c
Ensembl Gene ENSMUSG00000037876
Gene Name jumonji domain containing 1C
Synonyms D630035I23Rik, TRIP8, 5430433L24Rik
MMRRC Submission 038418-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # R0133 (G1)
Quality Score 216
Status Validated (trace)
Chromosome 10
Chromosomal Location 66932189-67092105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 67076587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 2137 (A2137D)
Ref Sequence ENSEMBL: ENSMUSP00000134551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174408]
AlphaFold Q69ZK6
Predicted Effect probably benign
Transcript: ENSMUST00000051446
AA Change: A2136D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: A2136D

DomainStartEndE-ValueType
Blast:JmjC 143 2236 N/A BLAST
JmjC 2264 2488 3.29e-53 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173236
Predicted Effect probably benign
Transcript: ENSMUST00000173689
AA Change: A1956D

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: A1956D

DomainStartEndE-ValueType
Blast:JmjC 1 2056 N/A BLAST
JmjC 2084 2308 3.29e-53 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173762
Predicted Effect probably benign
Transcript: ENSMUST00000174408
AA Change: A2137D

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: A2137D

DomainStartEndE-ValueType
Blast:JmjC 143 2237 N/A BLAST
JmjC 2265 2489 3.29e-53 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.4%
Validation Efficiency 99% (83/84)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd4 T C 11: 102,996,214 (GRCm39) S172P probably damaging Het
Akap6 A T 12: 53,186,254 (GRCm39) K1223* probably null Het
Akna G A 4: 63,297,598 (GRCm39) Q819* probably null Het
Ankrd2 T C 19: 42,032,510 (GRCm39) V257A probably benign Het
Arap1 T A 7: 101,035,436 (GRCm39) D30E probably damaging Het
Atp6v0d2 T C 4: 19,910,578 (GRCm39) probably benign Het
Blm T A 7: 80,152,115 (GRCm39) I611F possibly damaging Het
Ccng2 A G 5: 93,421,240 (GRCm39) K250R probably benign Het
Cdhr3 A G 12: 33,142,751 (GRCm39) L8P possibly damaging Het
Csf2rb T G 15: 78,223,204 (GRCm39) probably benign Het
Ctbs A G 3: 146,163,223 (GRCm39) I204V probably benign Het
Cxcl16 T A 11: 70,349,596 (GRCm39) E76D possibly damaging Het
Dhx15 T C 5: 52,311,414 (GRCm39) I689V possibly damaging Het
Dlk2 T C 17: 46,609,868 (GRCm39) probably benign Het
Dnah2 A T 11: 69,311,835 (GRCm39) M4452K probably damaging Het
Dok4 T A 8: 95,591,991 (GRCm39) I280F probably benign Het
Dsc3 T C 18: 20,104,639 (GRCm39) T563A probably damaging Het
Dsg1b C T 18: 20,537,935 (GRCm39) A617V probably damaging Het
Eps8l2 C T 7: 140,942,120 (GRCm39) P721S unknown Het
Evx2 T C 2: 74,489,426 (GRCm39) D112G possibly damaging Het
Fam124a C A 14: 62,843,782 (GRCm39) T430K possibly damaging Het
Fbrs C T 7: 127,088,782 (GRCm39) probably benign Het
Fbxw14 T C 9: 109,103,647 (GRCm39) T22A probably benign Het
Fmo5 T G 3: 97,552,952 (GRCm39) V300G probably damaging Het
Gadl1 T C 9: 115,770,411 (GRCm39) S75P probably benign Het
Galnt2 T G 8: 125,065,277 (GRCm39) I469S probably benign Het
Gga3 T A 11: 115,479,805 (GRCm39) probably benign Het
Gm10647 T C 9: 66,705,771 (GRCm39) probably benign Het
Gm14180 C A 11: 99,625,043 (GRCm39) C25F unknown Het
Grid2 A T 6: 64,297,116 (GRCm39) D493V probably damaging Het
Gzmc T A 14: 56,469,754 (GRCm39) Y182F possibly damaging Het
Hecw2 A C 1: 53,869,899 (GRCm39) L1443R probably damaging Het
Igkv4-62 A G 6: 69,377,053 (GRCm39) I32T probably benign Het
Ikzf1 T A 11: 11,691,015 (GRCm39) probably null Het
Il27ra G A 8: 84,760,571 (GRCm39) probably benign Het
Kcnc2 T C 10: 112,294,502 (GRCm39) C579R probably damaging Het
Kdr T C 5: 76,112,498 (GRCm39) T862A probably damaging Het
Kif17 T C 4: 138,005,556 (GRCm39) S182P possibly damaging Het
Klf5 A T 14: 99,539,318 (GRCm39) T164S probably benign Het
Ksr2 T G 5: 117,693,359 (GRCm39) V269G possibly damaging Het
Mcm5 T A 8: 75,847,539 (GRCm39) D445E probably damaging Het
Mlkl T C 8: 112,054,580 (GRCm39) I186V probably damaging Het
Muc4 A T 16: 32,591,978 (GRCm39) S3017C possibly damaging Het
Myo15a T C 11: 60,368,676 (GRCm39) F479L possibly damaging Het
Myo6 A G 9: 80,181,257 (GRCm39) probably benign Het
Myom1 T A 17: 71,354,782 (GRCm39) V393E probably damaging Het
Nup98 T A 7: 101,788,859 (GRCm39) probably null Het
Odf2l A G 3: 144,854,302 (GRCm39) N383S probably damaging Het
Olfml3 A C 3: 103,644,342 (GRCm39) probably null Het
Or10q1 T A 19: 13,727,352 (GRCm39) I294N probably damaging Het
Or7g17 G A 9: 18,767,925 (GRCm39) M1I probably null Het
Or8g18 A G 9: 39,149,307 (GRCm39) Y141H probably benign Het
Or8j3b A T 2: 86,205,159 (GRCm39) V199E possibly damaging Het
Plxna4 A T 6: 32,174,009 (GRCm39) D1195E probably benign Het
Ppp1r1a T A 15: 103,446,247 (GRCm39) H20L probably damaging Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null Het
Prom2 A G 2: 127,380,258 (GRCm39) probably benign Het
Rasal3 T C 17: 32,622,357 (GRCm39) M1V probably null Het
Rhoj A G 12: 75,441,194 (GRCm39) probably null Het
Rnf40 C T 7: 127,196,032 (GRCm39) probably null Het
Slc15a3 T C 19: 10,820,614 (GRCm39) L77P probably damaging Het
Slc26a6 T C 9: 108,738,522 (GRCm39) V586A possibly damaging Het
Slc30a10 T A 1: 185,187,370 (GRCm39) L37Q probably damaging Het
Slc43a2 T A 11: 75,454,403 (GRCm39) M316K probably benign Het
Smarcal1 T C 1: 72,672,010 (GRCm39) F844L probably benign Het
Snx19 A G 9: 30,339,912 (GRCm39) E350G possibly damaging Het
Tecta T A 9: 42,278,524 (GRCm39) T995S probably benign Het
Tmc3 T G 7: 83,261,681 (GRCm39) N586K probably damaging Het
Tmem107 T A 11: 68,963,239 (GRCm39) probably benign Het
Tmem247 A G 17: 87,225,989 (GRCm39) Q51R probably benign Het
Tmpo G T 10: 90,999,900 (GRCm39) probably benign Het
Ubr5 T A 15: 37,996,815 (GRCm39) T1894S probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Xirp2 T A 2: 67,347,468 (GRCm39) H3236Q probably benign Het
Zfand4 G A 6: 116,291,700 (GRCm39) D545N probably benign Het
Zkscan3 G T 13: 21,578,944 (GRCm39) P155T 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
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
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'- AGGTCCACACCCGTGTGAAAAC -3'
(R):5'- TCTCCTCAGACCATGCAGTGTACC -3'

Sequencing Primer
(F):5'- GTTGCATTACCAAACTTAGGGTC -3'
(R):5'- TGCAGTGTACCATACATACCTG -3'
Posted On 2013-04-12