Mutagenetix > Incidental Mutation

Incidental Mutation 'R2392:Jmjd1c'

247817

Institutional Source

Beutler Lab

Gene Symbol

Jmjd1c

Ensembl Gene

ENSMUSG00000037876

Gene Name

jumonji domain containing 1C

Synonyms

D630035I23Rik, TRIP8, 5430433L24Rik

MMRRC Submission

040360-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R2392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66932189-67092105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67065683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1703 (T1703A)

Ref Sequence

ENSEMBL: ENSMUSP00000134551 (fasta)

Gene Model

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

AlphaFold

Q69ZK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000051446
AA Change: T1702A

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

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: T1702A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173689
AA Change: T1522A

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

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: T1522A

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 damaging
Transcript: ENSMUST00000174408
AA Change: T1703A

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

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: T1703A

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

Meta Mutation Damage Score

0.1852

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,297,264 (GRCm39)	S2409T	probably damaging	Het
Acap2	A	G	16: 30,958,458 (GRCm39)	F120S	probably damaging	Het
Akr1c6	A	G	13: 4,484,477 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,963,573 (GRCm39)	A1874S	probably damaging	Het
Ccnl1	A	G	3: 65,856,173 (GRCm39)	V244A	probably damaging	Het
Cenpe	T	G	3: 134,953,874 (GRCm39)	L1628R	probably damaging	Het
Cfap54	A	G	10: 92,860,873 (GRCm39)		probably null	Het
Chchd7	T	A	4: 3,943,381 (GRCm39)		probably null	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crybg2	G	T	4: 133,799,925 (GRCm39)	V362L	probably benign	Het
Ddx11	T	A	17: 66,456,968 (GRCm39)	V791E	probably damaging	Het
Disp1	G	A	1: 182,868,731 (GRCm39)	P1230S	probably benign	Het
Elp5	T	C	11: 69,865,928 (GRCm39)	H116R	probably benign	Het
Epb42	T	C	2: 120,860,468 (GRCm39)	E177G	possibly damaging	Het
F13a1	T	A	13: 37,127,971 (GRCm39)	I336F	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcsk	A	G	8: 111,616,356 (GRCm39)	M453T	probably benign	Het
Hacd2	A	T	16: 34,926,748 (GRCm39)	E249V	probably benign	Het
Hnrnpf	C	A	6: 117,901,829 (GRCm39)	A371D	possibly damaging	Het
Kcnj13	G	A	1: 87,314,622 (GRCm39)	T200I	possibly damaging	Het
Kif1b	G	A	4: 149,305,077 (GRCm39)	T949M	possibly damaging	Het
Klhl35	G	A	7: 99,123,031 (GRCm39)	A552T	possibly damaging	Het
Krt74	A	G	15: 101,665,236 (GRCm39)		noncoding transcript	Het
Krtap14	T	A	16: 88,622,597 (GRCm39)		probably null	Het
Lrrc45	A	G	11: 120,610,365 (GRCm39)	N492S	probably benign	Het
Lrrcc1	T	A	3: 14,601,580 (GRCm39)	N114K	probably damaging	Het
Mfsd2b	T	C	12: 4,915,164 (GRCm39)	D375G	possibly damaging	Het
Mgat4a	A	G	1: 37,537,785 (GRCm39)	L44P	probably damaging	Het
Mttp	A	C	3: 137,800,782 (GRCm39)	D774E	probably damaging	Het
Myo5a	T	C	9: 75,116,521 (GRCm39)	V1554A	probably benign	Het
Nes	C	T	3: 87,883,250 (GRCm39)	A503V	probably benign	Het
Nme8	A	G	13: 19,873,113 (GRCm39)		probably null	Het
Nr4a1	A	G	15: 101,172,075 (GRCm39)	D583G	possibly damaging	Het
Or12d17	A	G	17: 37,777,310 (GRCm39)	Y71C	probably damaging	Het
Or5k14	A	G	16: 58,692,797 (GRCm39)	S239P	probably damaging	Het
Pnpla8	T	A	12: 44,358,287 (GRCm39)	L746I	probably damaging	Het
Ppp1r7	A	T	1: 93,282,063 (GRCm39)	I205F	probably benign	Het
Psd4	C	A	2: 24,284,679 (GRCm39)	P181Q	probably damaging	Het
Ripor2	G	A	13: 24,890,206 (GRCm39)	V694I	probably benign	Het
Scn10a	A	G	9: 119,456,268 (GRCm39)	S1185P	possibly damaging	Het
Sec23b	T	A	2: 144,427,507 (GRCm39)		probably null	Het
Slfn2	A	G	11: 82,956,154 (GRCm39)	N12S	possibly damaging	Het
Slfn4	A	G	11: 83,076,248 (GRCm39)	K38R	possibly damaging	Het
Smarca2	G	T	19: 26,618,050 (GRCm39)		probably null	Het
Taar4	A	G	10: 23,837,172 (GRCm39)	T261A	possibly damaging	Het
Tbl2	A	G	5: 135,185,368 (GRCm39)	D159G	probably benign	Het
Tmem120a	T	C	5: 135,770,892 (GRCm39)	E55G	probably damaging	Het
Ttc21b	A	G	2: 66,037,794 (GRCm39)		probably null	Het
Vill	A	T	9: 118,896,628 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,487,130 (GRCm39)	M511K	probably damaging	Het
Vmn2r81	A	T	10: 79,110,516 (GRCm39)	D543V	probably damaging	Het
Wdr95	A	G	5: 149,504,135 (GRCm39)	T314A	probably benign	Het
Zbtb8b	A	G	4: 129,326,982 (GRCm39)	I61T	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCACTGAAGGATTACTGCTCTCC -3'
(R):5'- AGAGACACTGCCACTTCTTG -3'

Sequencing Primer
(F):5'- AGAGAGACTTAGCAGTTGTCCATC -3'
(R):5'- GTACTTCGACTTACCTCCTAAAGTAG -3'

Posted On

2014-11-11