Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Jmjd1c'

45495

Institutional Source

Beutler Lab

Gene Symbol

Jmjd1c

Ensembl Gene

ENSMUSG00000037876

Gene Name

jumonji domain containing 1C

Synonyms

TRIP8, D630035I23Rik, 5430433L24Rik

MMRRC Submission

038747-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

R0555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67096125-67256326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67225789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1307 (V1307A)

Ref Sequence

ENSEMBL: ENSMUSP00000134551 (fasta)

Gene Model

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

AlphaFold

Q69ZK6

Predicted Effect

probably benign
Transcript: ENSMUST00000051446
AA Change: V1307A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: V1307A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173689
AA Change: V1126A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: V1126A

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

probably benign
Transcript: ENSMUST00000174408
AA Change: V1307A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: V1307A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,754,234	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,671		probably benign	Het
Asap1	A	G	15: 64,094,364	L941P	probably damaging	Het
Aurka	G	A	2: 172,367,147	R23C	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,290,504	A418T	possibly damaging	Het
Cpxm2	A	T	7: 132,044,043	Y715*	probably null	Het
Csmd1	T	C	8: 16,185,273	M1179V	probably benign	Het
Ddx21	A	T	10: 62,587,528	F632I	probably damaging	Het
Dnaic1	C	A	4: 41,625,335	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,431,542	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,214,518		probably null	Het
Dync1li2	A	T	8: 104,420,665	S466T	probably benign	Het
Ears2	T	C	7: 122,048,444	T206A	probably benign	Het
Elmod1	A	T	9: 53,931,592		probably benign	Het
Eps8l3	C	A	3: 107,892,345	D590E	probably benign	Het
Etfdh	A	T	3: 79,605,805	H370Q	probably benign	Het
Fam83g	C	A	11: 61,707,663	A792E	probably benign	Het
Ffar3	G	T	7: 30,855,537	Y119*	probably null	Het
Fosb	G	T	7: 19,307,213	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,263,114	L3F	probably damaging	Het
Foxo4	A	G	X: 101,255,178	K65E	probably damaging	Het
Frem2	A	G	3: 53,516,860	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,608,137	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927	G429C	probably damaging	Het
Gimap1	T	C	6: 48,741,429		probably benign	Het
Gm17657	A	T	17: 29,519,571	F74I	probably benign	Het
Gnas	A	G	2: 174,298,511	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,552,328	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781		probably benign	Het
H2-M10.5	G	A	17: 36,774,728	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,349,323	Q412H	probably benign	Het
Hecw1	G	T	13: 14,236,941	T1058N	probably damaging	Het
Heph	A	T	X: 96,558,084	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,046,075	E53A	possibly damaging	Het
Insrr	T	G	3: 87,814,437		probably benign	Het
Ipo11	A	T	13: 106,892,461	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,118,873	V509A	probably damaging	Het
Kmt2a	T	A	9: 44,847,571	S1027C	probably damaging	Het
Kprp	G	C	3: 92,824,357	P462R	unknown	Het
Lman1l	T	C	9: 57,614,101	T193A	probably benign	Het
Lrit3	A	T	3: 129,791,296	V271D	probably damaging	Het
Map4	T	A	9: 109,979,103		probably benign	Het
Mark4	A	C	7: 19,448,673		probably benign	Het
Mfsd14b	A	G	13: 65,078,445	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,161,453	I162N	possibly damaging	Het
Mrpl43	A	T	19: 45,005,952		probably benign	Het
Mrpl47	A	G	3: 32,736,693	F16S	probably benign	Het
Myh2	G	T	11: 67,178,967	G380C	probably damaging	Het
Myo15	T	C	11: 60,521,638	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,733,223		probably benign	Het
Neu3	A	G	7: 99,814,183	V111A	probably damaging	Het
Nol4l	T	C	2: 153,417,684		probably null	Het
Nphp3	C	A	9: 104,023,434	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,233,118		probably null	Het
Olfr292	A	G	7: 86,695,308	N284S	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr598	T	C	7: 103,328,963	V159A	probably benign	Het
Olfr791	T	C	10: 129,526,896	I223T	possibly damaging	Het
Pex1	A	G	5: 3,606,130	E319G	possibly damaging	Het
Phtf1	C	A	3: 104,004,469	T709K	probably damaging	Het
Plek2	A	T	12: 78,892,172	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,107,469	C421*	probably null	Het
Polk	A	C	13: 96,484,179	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,729,174	S471P	probably damaging	Het
Prickle2	A	T	6: 92,458,565	F74L	probably benign	Het
Prl7d1	A	T	13: 27,712,055	V113D	probably benign	Het
Prr14	C	T	7: 127,472,095		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ret	A	G	6: 118,178,610	V375A	probably damaging	Het
Rora	T	C	9: 69,361,746	F41S	probably damaging	Het
Sall1	T	C	8: 89,031,758	T573A	probably benign	Het
Shb	A	G	4: 45,458,321	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,592,410		probably null	Het
Sltm	T	C	9: 70,586,081	F769L	probably damaging	Het
Snx9	T	A	17: 5,918,413	M328K	probably damaging	Het
Stk25	G	T	1: 93,624,591	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,316,744	A195T	probably damaging	Het
Tmem8	T	C	17: 26,117,114	L130S	probably benign	Het
Trcg1	C	T	9: 57,242,333	T396M	probably damaging	Het
Trim30b	A	G	7: 104,357,298	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,302,090		probably benign	Het
Ttll4	A	G	1: 74,688,280	H827R	probably damaging	Het
Urgcp	T	C	11: 5,717,477	E287G	probably damaging	Het
Usp2	G	T	9: 44,092,784	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,505,087	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 42,266,018	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,928,528	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,293,449	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,772,937		probably benign	Het
Zcchc6	A	G	13: 59,800,317	V328A	probably benign	Het
Zfp292	T	C	4: 34,807,194	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,516,520		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
IGL01753:Jmjd1c	APN	10	67232015	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
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
R7699:Jmjd1c	UTSW	10	67218416	missense	probably benign	0.10
R7745:Jmjd1c	UTSW	10	67217045	missense	probably damaging	0.96
R7897:Jmjd1c	UTSW	10	67239865	missense	probably damaging	0.96
R7908:Jmjd1c	UTSW	10	67225842	missense	probably benign
R7911:Jmjd1c	UTSW	10	67231995	missense	probably damaging	1.00
R7967:Jmjd1c	UTSW	10	67249682	missense	probably damaging	1.00
R8058:Jmjd1c	UTSW	10	67254495	missense	not run
R8224:Jmjd1c	UTSW	10	67244849	missense	noncoding transcript
R8251:Jmjd1c	UTSW	10	67239289	missense	noncoding transcript
R8797:Jmjd1c	UTSW	10	67224837	missense	probably benign
R8833:Jmjd1c	UTSW	10	67218383	missense	probably benign	0.03
R9262:Jmjd1c	UTSW	10	67248014	missense	probably benign	0.39
R9354:Jmjd1c	UTSW	10	67224096	missense	probably damaging	0.99
R9373:Jmjd1c	UTSW	10	67096716	intron	probably benign
R9477:Jmjd1c	UTSW	10	67157955	nonsense	probably null
R9519:Jmjd1c	UTSW	10	67158019	missense	possibly damaging	0.80
R9701:Jmjd1c	UTSW	10	67224966	missense	possibly damaging	0.94
R9802:Jmjd1c	UTSW	10	67224966	missense	possibly damaging	0.94
RF011:Jmjd1c	UTSW	10	67220199	missense	possibly damaging	0.47
Z1088:Jmjd1c	UTSW	10	67238174	missense	probably benign
Z1176:Jmjd1c	UTSW	10	67238174	missense	probably benign
Z1177:Jmjd1c	UTSW	10	67238174	missense	probably benign
Z1177:Jmjd1c	UTSW	10	67246125	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAAAGCAGCTACAGTAGCCTTTCCC -3'
(R):5'- CTGCACTACTCAAGCTGGAGACAC -3'

Sequencing Primer
(F):5'- CTGGTGGCAAAGTTCAAGAATCTC -3'
(R):5'- CACATCTGCTTTGGTAGTAGAGAC -3'

Posted On

2013-06-11