Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03171:Jmjd1c'

411832

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: 0.655) question?

Stock #

IGL03171

Quality Score

Status

Chromosome

Chromosomal Location

66932189-67092105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67061277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1210 (E1210G)

Ref Sequence

ENSEMBL: ENSMUSP00000056227 (fasta)

Gene Model

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

AlphaFold

Q69ZK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051446
AA Change: E1210G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: E1210G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173689
AA Change: E1029G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: E1029G

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174408
AA Change: E1210G

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: E1210G

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	A	6: 83,139,377 (GRCm39)	F434Y	possibly damaging	Het
Adam19	G	T	11: 46,029,681 (GRCm39)	A709S	probably damaging	Het
Adgrf3	A	T	5: 30,401,292 (GRCm39)	L42Q	probably damaging	Het
D430041D05Rik	T	C	2: 104,071,508 (GRCm39)	N1264S	possibly damaging	Het
Dnah9	T	G	11: 65,872,067 (GRCm39)	K2721T	probably benign	Het
Efr3b	C	T	12: 4,018,622 (GRCm39)	A575T	probably benign	Het
Esco1	T	C	18: 10,594,263 (GRCm39)	E341G	probably damaging	Het
Ezh2	G	A	6: 47,517,715 (GRCm39)	R574*	probably null	Het
Fam169a	G	T	13: 97,246,522 (GRCm39)		probably benign	Het
Fry	T	C	5: 150,304,274 (GRCm39)	Y555H	probably damaging	Het
Gm17175	A	C	14: 51,809,065 (GRCm39)	S100R	probably damaging	Het
Gm527	T	C	12: 64,967,931 (GRCm39)	Y118H	probably damaging	Het
H2-M10.4	G	T	17: 36,772,142 (GRCm39)	T202N	probably damaging	Het
Ift70a1	C	T	2: 75,810,851 (GRCm39)	A411T	probably benign	Het
Igf1	A	T	10: 87,700,683 (GRCm39)	T36S	probably damaging	Het
Ints8	C	T	4: 11,231,702 (GRCm39)	V428I	probably benign	Het
Itga6	G	A	2: 71,671,673 (GRCm39)		probably null	Het
Kdm2a	A	T	19: 4,406,792 (GRCm39)	V134E	probably damaging	Het
Limch1	C	A	5: 67,191,537 (GRCm39)	N947K	possibly damaging	Het
Met	T	C	6: 17,562,272 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,106,376 (GRCm39)		probably benign	Het
Ogg1	A	G	6: 113,310,375 (GRCm39)	I274V	possibly damaging	Het
Ola1	A	T	2: 72,987,197 (GRCm39)	I145K	probably benign	Het
Or2r11	G	A	6: 42,437,464 (GRCm39)	T163I	possibly damaging	Het
Pacrg	A	G	17: 10,795,462 (GRCm39)	V166A	possibly damaging	Het
Pira2	T	A	7: 3,845,604 (GRCm39)	E260V	probably damaging	Het
Prickle3	T	C	X: 7,531,526 (GRCm39)	C277R	probably damaging	Het
Psen1	A	G	12: 83,761,638 (GRCm39)	T147A	probably damaging	Het
Pxk	C	T	14: 8,151,014 (GRCm38)		probably benign	Het
Scn11a	G	A	9: 119,648,913 (GRCm39)	P50L	probably benign	Het
Scn4a	C	A	11: 106,236,418 (GRCm39)	V281L	probably benign	Het
Shcbp1	A	G	8: 4,789,166 (GRCm39)	I551T	probably benign	Het
Snx13	T	A	12: 35,150,539 (GRCm39)	I281N	probably benign	Het
Spata31e4	T	A	13: 50,856,388 (GRCm39)	S675R	probably benign	Het
Spopfm1	C	A	3: 94,173,762 (GRCm39)	H257N	probably benign	Het
Tdo2	T	C	3: 81,874,336 (GRCm39)	K209E	probably benign	Het
Trip6	C	T	5: 137,311,146 (GRCm39)	R190Q	probably benign	Het
Ubqln1	T	A	13: 58,328,672 (GRCm39)	E426D	probably damaging	Het
Zfp607b	C	A	7: 27,393,020 (GRCm39)	N49K	possibly damaging	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
IGL02943:Jmjd1c	APN	10	67,055,433 (GRCm39)	missense	probably damaging	0.99
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

2016-08-02