Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01753:Jmjd1c'

153162

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jmjd1c

Ensembl Gene

ENSMUSG00000037876

Gene Name

jumonji domain containing 1C

Synonyms

TRIP8, D630035I23Rik, 5430433L24Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.782) question?

Stock #

IGL01753

Quality Score

Status

Chromosome

Chromosomal Location

67096125-67256326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67232015 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1766 (S1766T)

Ref Sequence

ENSEMBL: ENSMUSP00000134551 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000051446
AA Change: S1765T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: S1765T

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: ENSMUST00000158873

Predicted Effect

probably damaging
Transcript: ENSMUST00000173689
AA Change: S1585T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: S1585T

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: ENSMUST00000174408
AA Change: S1766T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: S1766T

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	G	16: 85,802,224	F163L	probably benign	Het
Ap2b1	A	G	11: 83,321,973	T60A	probably damaging	Het
Casp3	A	G	8: 46,629,741		probably benign	Het
Ces1d	T	C	8: 93,192,810	Y118C	probably damaging	Het
Chuk	T	C	19: 44,098,576		probably benign	Het
Clec4b2	A	T	6: 123,202,210	Y157F	possibly damaging	Het
Dlg4	T	A	11: 70,041,347	F480I	probably damaging	Het
Dock8	T	A	19: 25,061,292		probably benign	Het
Dsg1b	T	C	18: 20,397,849		probably benign	Het
Dstyk	T	C	1: 132,462,939	Y830H	probably damaging	Het
Gm9268	T	A	7: 43,024,715	V399E	probably damaging	Het
Hook2	T	C	8: 84,993,236		probably null	Het
Ighv2-9-1	T	C	12: 113,769,928	D91G	probably damaging	Het
Igkv12-41	T	C	6: 69,858,526	R81G	probably damaging	Het
Ispd	C	T	12: 36,473,177	L202F	probably damaging	Het
Mdn1	G	A	4: 32,708,483	V1670I	probably benign	Het
Naa15	T	C	3: 51,442,853	F124L	probably damaging	Het
Nek2	C	T	1: 191,825,486	Q187*	probably null	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Pif1	G	A	9: 65,593,308	G505D	probably damaging	Het
Plxna4	T	A	6: 32,310,478	I495F	probably benign	Het
Ppp1r21	T	C	17: 88,562,102		probably benign	Het
Prex1	T	C	2: 166,602,882	I282V	probably benign	Het
Pzp	A	T	6: 128,502,183	I669N	possibly damaging	Het
Sipa1l2	T	A	8: 125,453,292		probably benign	Het
Top2a	T	A	11: 99,007,274	T689S	probably damaging	Het
Trerf1	T	A	17: 47,315,436		noncoding transcript	Het
Uso1	T	C	5: 92,152,918		probably null	Het
Zcchc7	A	G	4: 44,929,217	I390V	probably benign	Het
Zfp90	C	T	8: 106,424,150	T165I	probably benign	Het

Other mutations in Jmjd1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Jmjd1c	APN	10	67226715	missense	probably damaging	1.00
IGL01604:Jmjd1c	APN	10	67249762	missense	probably damaging	1.00
IGL02081:Jmjd1c	APN	10	67219526	missense	probably benign	0.02
IGL02128:Jmjd1c	APN	10	67243869	missense	probably damaging	1.00
IGL02134:Jmjd1c	APN	10	67220392	missense	possibly damaging	0.87
IGL02215:Jmjd1c	APN	10	67220322	missense	probably damaging	1.00
IGL02408:Jmjd1c	APN	10	67226382	missense	probably benign	0.00
IGL02502:Jmjd1c	APN	10	67225861	missense	probably benign	0.13
IGL02546:Jmjd1c	APN	10	67225336	missense	possibly damaging	0.94
IGL02943:Jmjd1c	APN	10	67219654	missense	probably damaging	0.99
IGL03171:Jmjd1c	APN	10	67225498	missense	possibly damaging	0.89
IGL03261:Jmjd1c	APN	10	67232070	missense	probably damaging	0.99
accordion	UTSW	10	67233414	missense	probably damaging	0.99
PIT4378001:Jmjd1c	UTSW	10	67229913	missense	probably damaging	1.00
R0126:Jmjd1c	UTSW	10	67219326	missense	probably damaging	0.98
R0133:Jmjd1c	UTSW	10	67240808	missense	probably benign	0.22
R0201:Jmjd1c	UTSW	10	67219109	missense	unknown
R0396:Jmjd1c	UTSW	10	67219523	missense	possibly damaging	0.82
R0401:Jmjd1c	UTSW	10	67220382	missense	probably damaging	1.00
R0452:Jmjd1c	UTSW	10	67255482	missense	probably benign	0.28
R0488:Jmjd1c	UTSW	10	67240727	missense	probably damaging	0.99
R0504:Jmjd1c	UTSW	10	67225755	missense	probably damaging	1.00
R0555:Jmjd1c	UTSW	10	67225789	missense	probably benign	0.01
R0673:Jmjd1c	UTSW	10	67226809	missense	probably damaging	1.00
R0718:Jmjd1c	UTSW	10	67218946	splice site	probably null
R0755:Jmjd1c	UTSW	10	67096599	intron	probably benign
R1142:Jmjd1c	UTSW	10	67225345	missense	probably damaging	1.00
R1196:Jmjd1c	UTSW	10	67239236	splice site	probably benign
R1413:Jmjd1c	UTSW	10	67249750	missense	probably damaging	1.00
R1619:Jmjd1c	UTSW	10	67219875	missense	probably benign	0.25
R1676:Jmjd1c	UTSW	10	67224809	missense	probably benign	0.02
R1751:Jmjd1c	UTSW	10	67225690	missense	probably benign
R1950:Jmjd1c	UTSW	10	67239922	missense	possibly damaging	0.71
R1968:Jmjd1c	UTSW	10	67225440	missense	probably damaging	1.00
R2049:Jmjd1c	UTSW	10	67157998	nonsense	probably null
R2061:Jmjd1c	UTSW	10	67218426	missense	probably damaging	1.00
R2202:Jmjd1c	UTSW	10	67239463	splice site	probably null
R2203:Jmjd1c	UTSW	10	67239463	splice site	probably null
R2256:Jmjd1c	UTSW	10	67225294	missense	probably damaging	1.00
R2312:Jmjd1c	UTSW	10	67238850	missense	probably damaging	0.98
R2349:Jmjd1c	UTSW	10	67255500	missense	probably benign
R2392:Jmjd1c	UTSW	10	67229904	missense	probably damaging	1.00
R3015:Jmjd1c	UTSW	10	67157932	missense	probably damaging	1.00
R3110:Jmjd1c	UTSW	10	67240084	splice site	probably benign
R4043:Jmjd1c	UTSW	10	67219466	missense	possibly damaging	0.55
R4097:Jmjd1c	UTSW	10	67219008	missense	probably benign	0.09
R4118:Jmjd1c	UTSW	10	67219753	missense	probably damaging	0.96
R4193:Jmjd1c	UTSW	10	67096681	intron	probably benign
R4352:Jmjd1c	UTSW	10	67244809	missense	probably damaging	1.00
R4577:Jmjd1c	UTSW	10	67249750	missense	probably damaging	1.00
R4630:Jmjd1c	UTSW	10	67157974	nonsense	probably null
R4717:Jmjd1c	UTSW	10	67158051	nonsense	probably null
R4741:Jmjd1c	UTSW	10	67224939	missense	possibly damaging	0.56
R4774:Jmjd1c	UTSW	10	67224792	missense	possibly damaging	0.45
R4836:Jmjd1c	UTSW	10	67233446	missense	probably benign	0.21
R4914:Jmjd1c	UTSW	10	67218971	missense	probably damaging	1.00
R4939:Jmjd1c	UTSW	10	67246137	missense	possibly damaging	0.93
R5211:Jmjd1c	UTSW	10	67232016	missense	probably damaging	1.00
R5215:Jmjd1c	UTSW	10	67240701	missense	possibly damaging	0.93
R5514:Jmjd1c	UTSW	10	67218149	missense	probably damaging	1.00
R5530:Jmjd1c	UTSW	10	67249762	missense	probably damaging	1.00
R5624:Jmjd1c	UTSW	10	67233414	missense	probably damaging	0.99
R5640:Jmjd1c	UTSW	10	67226078	missense	probably benign	0.10
R5654:Jmjd1c	UTSW	10	67230006	missense	probably benign	0.10
R5742:Jmjd1c	UTSW	10	67220333	missense	probably benign	0.02
R5764:Jmjd1c	UTSW	10	67226512	missense	probably damaging	1.00
R6118:Jmjd1c	UTSW	10	67240012	missense	probably damaging	1.00
R6163:Jmjd1c	UTSW	10	67248048	missense	possibly damaging	0.46
R6256:Jmjd1c	UTSW	10	67220408	missense	probably damaging	1.00
R6266:Jmjd1c	UTSW	10	67249660	missense	probably damaging	0.96
R6358:Jmjd1c	UTSW	10	67225939	missense	probably benign
R6430:Jmjd1c	UTSW	10	67224160	missense	possibly damaging	0.87
R6455:Jmjd1c	UTSW	10	67226016	missense	probably benign	0.10
R6887:Jmjd1c	UTSW	10	67189820	missense	possibly damaging	0.74
R6895:Jmjd1c	UTSW	10	67217090	missense	probably benign	0.00
R7041:Jmjd1c	UTSW	10	67220609	missense	possibly damaging	0.90
R7095:Jmjd1c	UTSW	10	67219632	missense	probably benign	0.39
R7113:Jmjd1c	UTSW	10	67158001	missense	probably damaging	0.98
R7225:Jmjd1c	UTSW	10	67226065	missense	probably benign	0.00
R7249:Jmjd1c	UTSW	10	67189817	missense	probably benign	0.01
R7361:Jmjd1c	UTSW	10	67218364	missense	probably benign	0.10
R7383:Jmjd1c	UTSW	10	67189758	missense	probably benign	0.14
R7460:Jmjd1c	UTSW	10	67217036	missense	probably benign	0.24
R7475:Jmjd1c	UTSW	10	67225313	missense	probably benign	0.22
R7502:Jmjd1c	UTSW	10	67232015	missense	probably damaging	0.99
R7745:Jmjd1c	UTSW	10	67217045	missense	probably damaging	0.96
RF011:Jmjd1c	UTSW	10	67220199	missense	possibly damaging	0.47
Z1088:Jmjd1c	UTSW	10	67238174	missense	probably benign

Posted On

2014-02-04