Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Jmjd1c'

38227

Institutional Source

Beutler Lab

Gene Symbol

Jmjd1c

Ensembl Gene

ENSMUSG00000037876

Gene Name

jumonji domain containing 1C

Synonyms

TRIP8, D630035I23Rik, 5430433L24Rik

MMRRC Submission

038606-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R0401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67096125-67256326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67220382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 527 (R527H)

Ref Sequence

ENSEMBL: ENSMUSP00000134246 (fasta)

Gene Model

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

AlphaFold

Q69ZK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000051446
AA Change: R814H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: R814H

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

probably damaging
Transcript: ENSMUST00000173689
AA Change: R633H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: R633H

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: R527H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134246
Gene: ENSMUSG00000037876
AA Change: R527H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174408
AA Change: R814H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: R814H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,070,306	H1752L	possibly damaging	Het
8030462N17Rik	C	A	18: 77,673,962	S218I	probably damaging	Het
A530099J19Rik	A	T	13: 19,729,494		noncoding transcript	Het
Abcc5	T	C	16: 20,376,558	K730E	probably benign	Het
Ahnak	A	G	19: 9,015,116	D4588G	probably benign	Het
AI467606	G	A	7: 127,092,436	R61H	probably damaging	Het
Apoa4	T	A	9: 46,243,058	V319E	probably damaging	Het
Atad5	T	A	11: 80,120,699	D1297E	probably benign	Het
BC005624	G	A	2: 30,980,009	T62I	probably benign	Het
Bcl6	T	C	16: 23,972,594	K337E	probably damaging	Het
Cad	T	A	5: 31,073,986		probably benign	Het
Ccdc73	T	C	2: 104,991,289	S528P	probably benign	Het
Ccng2	T	G	5: 93,273,413	C261G	possibly damaging	Het
Cdh11	A	T	8: 102,674,006	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,705,239	V767A	probably damaging	Het
Cit	A	G	5: 115,985,479	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,181,300	Q42*	probably null	Het
Clip1	A	G	5: 123,653,789	V106A	probably damaging	Het
Crb1	T	C	1: 139,198,791		probably benign	Het
Cts6	T	C	13: 61,198,339		probably benign	Het
Cul9	T	C	17: 46,541,704	E244G	probably damaging	Het
Ddx55	A	T	5: 124,567,951	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,693,674	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,031	Y1235*	probably null	Het
Dsg2	G	T	18: 20,592,508		probably benign	Het
E2f5	T	C	3: 14,579,025		probably null	Het
Epc2	A	G	2: 49,528,974	T265A	probably damaging	Het
Etaa1	T	G	11: 17,947,514	D201A	probably damaging	Het
Fancd2	T	C	6: 113,548,343	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,624	A1098V	probably benign	Het
Gm17689	G	T	9: 36,582,628	A3E	unknown	Het
Gm7030	C	T	17: 36,128,705	V128M	probably damaging	Het
Gpd2	G	A	2: 57,340,093	V286I	possibly damaging	Het
Herc2	A	C	7: 56,157,732	E2523A	probably damaging	Het
Kif12	G	A	4: 63,169,525		probably benign	Het
Lrp2	A	T	2: 69,479,148	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,546,989	G235R	probably benign	Het
Mapk8	T	C	14: 33,382,208	E417G	probably benign	Het
Mapk8ip3	G	A	17: 24,909,171		probably benign	Het
Mettl1	A	G	10: 127,045,077	T203A	probably benign	Het
Mettl9	T	C	7: 121,076,313	V312A	probably damaging	Het
Mex3d	A	G	10: 80,386,894	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790	S225P	probably damaging	Het
Mrvi1	G	A	7: 110,876,897	P757S	probably benign	Het
Neb	G	A	2: 52,188,677		probably benign	Het
Ninj2	C	T	6: 120,198,051	A51V	possibly damaging	Het
Nle1	A	G	11: 82,905,379		probably benign	Het
Nol9	T	C	4: 152,052,605	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,171,158	V286E	probably benign	Het
Olfr1183	T	G	2: 88,461,925	L195R	probably damaging	Het
Olfr1272	A	T	2: 90,282,404	M57K	probably damaging	Het
Olfr308	T	C	7: 86,321,292	Y220C	probably benign	Het
Olfr481	T	A	7: 108,080,872	I26N	possibly damaging	Het
Olfr670	T	A	7: 104,959,943	H263L	probably damaging	Het
Olfr816	A	G	10: 129,911,916	Y121H	probably benign	Het
Olfr827	A	G	10: 130,210,620	L170P	probably damaging	Het
Ovch2	A	T	7: 107,801,136	V15D	probably damaging	Het
Pclo	T	G	5: 14,681,734	S3417A	unknown	Het
Pet2	C	A	X: 89,405,209	R438L	probably benign	Het
Pex1	T	A	5: 3,633,759	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,282,135	S6P	probably benign	Het
Pogz	C	T	3: 94,877,025	P722S	possibly damaging	Het
Pom121l2	A	T	13: 21,982,225	D222V	probably benign	Het
Prpf40a	T	C	2: 53,159,313	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,458,173	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,422,658	V355G	probably damaging	Het
Rims2	T	C	15: 39,509,632		probably benign	Het
Ryr2	A	T	13: 11,705,684	S2693T	probably benign	Het
Sbno1	G	A	5: 124,410,285	T111I	probably damaging	Het
Sdk1	A	C	5: 142,046,161	N997T	possibly damaging	Het
Setx	G	T	2: 29,166,289	E39*	probably null	Het
Skint7	T	A	4: 111,980,362	N112K	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	A	T	2: 62,190,848	D80V	probably benign	Het
Susd2	C	A	10: 75,638,603		probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcf3	G	T	10: 80,421,158	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,826,365	Y116H	probably benign	Het
Tex26	C	A	5: 149,460,858	D164E	probably benign	Het
Thoc5	G	A	11: 4,902,213		probably benign	Het
Tiparp	A	G	3: 65,531,436	R58G	probably benign	Het
Trim66	A	T	7: 109,475,264	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,336,490	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,978,711	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,279,019	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,064,145	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,921,311	K346E	probably benign	Het
Zfhx4	T	A	3: 5,401,161	S2126R	possibly damaging	Het
Zfp608	C	T	18: 54,898,994	G625R	probably benign	Het
Zkscan5	A	G	5: 145,212,575	D234G	probably damaging	Het
Zscan10	T	A	17: 23,605,915	V115E	probably damaging	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
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
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'- ACAGTCAAGCTGTTGGTGAGCG -3'
(R):5'- ACTGCATTTTCTGGGTGAACCCAC -3'

Sequencing Primer
(F):5'- ATCCAGAGGTAGTTTCCATCCAG -3'
(R):5'- GGAGACCAAGTCCTGAGTATG -3'

Posted On

2013-05-23