Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02943:Jmjd1c'

364605

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jmjd1c

Ensembl Gene

ENSMUSG00000037876

Gene Name

jumonji domain containing 1C

Synonyms

D630035I23Rik, TRIP8, 5430433L24Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

IGL02943

Quality Score

Status

Chromosome

Chromosomal Location

66932189-67092105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67055433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 571 (D571E)

Ref Sequence

ENSEMBL: ENSMUSP00000134551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051446] [ENSMUST00000173689] [ENSMUST00000174317] [ENSMUST00000174408]

AlphaFold

Q69ZK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051446
AA Change: D571E

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: D571E

Domain	Start	End	E-Value	Type
Blast:JmjC	143	2236	N/A	BLAST
JmjC	2264	2488	3.29e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173661

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173689
AA Change: D390E

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: D390E

Domain	Start	End	E-Value	Type
Blast:JmjC	1	2056	N/A	BLAST
JmjC	2084	2308	3.29e-53	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174317
AA Change: D284E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134246
Gene: ENSMUSG00000037876
AA Change: D284E

Domain	Start	End	E-Value	Type
Blast:JmjC	1	744	N/A	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000174408
AA Change: D571E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: D571E

Domain	Start	End	E-Value	Type
Blast:JmjC	143	2237	N/A	BLAST
JmjC	2265	2489	3.29e-53	SMART

Coding Region Coverage

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Ankrd13c	C	T	3: 157,653,564 (GRCm39)	T134M	probably damaging	Het
Arhgef18	T	C	8: 3,498,553 (GRCm39)	S529P	probably damaging	Het
Cdkl2	T	A	5: 92,185,103 (GRCm39)	N96I	possibly damaging	Het
Cep57	A	T	9: 13,730,149 (GRCm39)		probably benign	Het
Chchd7	T	C	4: 3,942,796 (GRCm39)	Y44H	probably damaging	Het
Ciart	T	C	3: 95,786,314 (GRCm39)	I254V	possibly damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dlgap5	A	G	14: 47,650,433 (GRCm39)		probably null	Het
Ednra	T	A	8: 78,446,683 (GRCm39)	I132F	probably damaging	Het
En2	T	C	5: 28,371,524 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,846,613 (GRCm39)	R1102G	probably damaging	Het
Fsip2	C	A	2: 82,822,701 (GRCm39)	Q6145K	probably benign	Het
Galnt5	A	T	2: 57,889,780 (GRCm39)	D460V	probably damaging	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Gpr84	T	C	15: 103,217,316 (GRCm39)	I254V	probably benign	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Hyal6	T	A	6: 24,743,438 (GRCm39)	V378E	probably damaging	Het
Il20rb	G	T	9: 100,348,305 (GRCm39)	H210N	probably benign	Het
Iqgap2	A	G	13: 95,798,243 (GRCm39)		probably benign	Het
Itga1	C	T	13: 115,185,832 (GRCm39)	E57K	possibly damaging	Het
Kmt2c	T	C	5: 25,495,821 (GRCm39)	S623G	probably damaging	Het
L3mbtl2	T	A	15: 81,570,456 (GRCm39)	S645T	possibly damaging	Het
Lrp2	A	G	2: 69,285,854 (GRCm39)	V3779A	possibly damaging	Het
Lrpprc	T	C	17: 85,078,878 (GRCm39)	R279G	probably benign	Het
Lurap1l	A	G	4: 80,871,872 (GRCm39)	K122E	probably damaging	Het
Met	T	C	6: 17,535,928 (GRCm39)	Y785H	possibly damaging	Het
Myh3	T	C	11: 66,981,891 (GRCm39)	F796L	probably benign	Het
Myo16	T	C	8: 10,450,595 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,068,974 (GRCm39)	C292R	probably damaging	Het
Nmnat1	A	G	4: 149,557,745 (GRCm39)	L99P	probably damaging	Het
Or1j12	A	T	2: 36,343,051 (GRCm39)	L151F	probably benign	Het
Or5p64	A	G	7: 107,854,623 (GRCm39)	F241L	possibly damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Phf20l1	A	G	15: 66,466,733 (GRCm39)	Y54C	probably damaging	Het
Postn	T	C	3: 54,285,029 (GRCm39)		probably null	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prdm2	A	C	4: 142,858,542 (GRCm39)	S1583A	probably benign	Het
Proser1	T	C	3: 53,386,524 (GRCm39)	V802A	probably damaging	Het
Ptprc	A	T	1: 138,027,251 (GRCm39)	N532K	probably damaging	Het
Ptprk	A	G	10: 28,351,172 (GRCm39)	H555R	possibly damaging	Het
Ranbp6	T	C	19: 29,789,524 (GRCm39)	D276G	possibly damaging	Het
Rasgrf2	A	G	13: 92,131,752 (GRCm39)	V635A	probably damaging	Het
Rbm5	T	C	9: 107,621,542 (GRCm39)	Y620C	probably damaging	Het
Sall1	C	T	8: 89,757,749 (GRCm39)	R785H	probably damaging	Het
Slc22a2	G	T	17: 12,828,948 (GRCm39)	L351F	probably damaging	Het
Sorcs3	A	T	19: 48,748,377 (GRCm39)	Q782L	probably benign	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r107	T	A	6: 131,636,369 (GRCm39)	M227L	probably damaging	Het
Tecpr2	C	T	12: 110,934,183 (GRCm39)	T1281I	probably benign	Het
Topbp1	T	A	9: 103,205,639 (GRCm39)	V759E	probably benign	Het
Trim2	T	C	3: 84,085,483 (GRCm39)	T504A	probably benign	Het
Trpc1	A	G	9: 95,590,906 (GRCm39)		probably benign	Het
Tssk4	T	A	14: 55,889,023 (GRCm39)	V183E	probably damaging	Het
Vmn1r202	T	C	13: 22,686,364 (GRCm39)	T18A	probably benign	Het
Vmn1r225	T	C	17: 20,722,567 (GRCm39)	S3P	possibly damaging	Het
Vmn2r101	T	A	17: 19,831,666 (GRCm39)	V554E	probably damaging	Het
Vps13a	T	C	19: 16,641,250 (GRCm39)	I2291V	probably damaging	Het
Vps39	A	G	2: 120,169,968 (GRCm39)	S195P	possibly damaging	Het
Zfand4	T	A	6: 116,250,837 (GRCm39)		probably benign	Het

Other mutations in Jmjd1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-12-18