Mutagenetix > Incidental Mutation

Incidental Mutation 'R6266:Jmjd1c'

507019

Institutional Source

Beutler Lab

Gene Symbol

Jmjd1c

Ensembl Gene

ENSMUSG00000037876

Gene Name

jumonji domain containing 1C

Synonyms

D630035I23Rik, TRIP8, 5430433L24Rik

MMRRC Submission

044378-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66932189-67092105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67085439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 2410 (P2410S)

Ref Sequence

ENSEMBL: ENSMUSP00000134551 (fasta)

Gene Model

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

AlphaFold

Q69ZK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000051446
AA Change: P2409S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: P2409S

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: ENSMUST00000173236

Predicted Effect

probably damaging
Transcript: ENSMUST00000173689
AA Change: P2229S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: P2229S

Domain	Start	End	E-Value	Type
Blast:JmjC	1	2056	N/A	BLAST
JmjC	2084	2308	3.29e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173762

Predicted Effect

probably damaging
Transcript: ENSMUST00000174408
AA Change: P2410S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: P2410S

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,320,206 (GRCm39)	T295A	probably benign	Het
Aldh2	C	A	5: 121,706,997 (GRCm39)	V217L	probably damaging	Het
Arap3	G	A	18: 38,123,844 (GRCm39)	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,977 (GRCm39)	L75R	probably damaging	Het
Blm	C	A	7: 80,149,688 (GRCm39)	K640N	probably benign	Het
Brap	A	T	5: 121,823,328 (GRCm39)	T487S	probably benign	Het
Ccser2	G	A	14: 36,601,632 (GRCm39)	P276L	probably damaging	Het
Cdc42bpg	A	G	19: 6,361,503 (GRCm39)	E343G	probably damaging	Het
Cecr2	A	G	6: 120,738,647 (GRCm39)	S1097G	probably benign	Het
D7Ertd443e	A	T	7: 133,951,514 (GRCm39)	V53D	probably damaging	Het
Ddx3y	G	A	Y: 1,266,635 (GRCm39)	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,773 (GRCm39)	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,841,952 (GRCm39)	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,350,442 (GRCm39)	S406P	probably damaging	Het
Efcab8	T	C	2: 153,625,688 (GRCm39)	L116P	probably damaging	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fbxl12	A	T	9: 20,549,911 (GRCm39)	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,426,683 (GRCm39)	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,287,864 (GRCm39)	S1219P	probably benign	Het
Gm7298	A	T	6: 121,759,663 (GRCm39)	R1187S	probably damaging	Het
H6pd	T	C	4: 150,080,414 (GRCm39)	I136V	probably benign	Het
Hyal2	A	G	9: 107,447,914 (GRCm39)	N189S	probably benign	Het
Larp1	A	G	11: 57,933,089 (GRCm39)	D231G	probably damaging	Het
Lilra5	T	A	7: 4,244,927 (GRCm39)	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,641,340 (GRCm39)	F508S	probably damaging	Het
Marchf4	T	C	1: 72,491,647 (GRCm39)	Y208C	probably damaging	Het
Mtarc2	T	C	1: 184,566,140 (GRCm39)	R85G	probably damaging	Het
Nr1h2	A	T	7: 44,201,476 (GRCm39)	C45*	probably null	Het
Or10ag2	T	A	2: 87,249,350 (GRCm39)	S319R	probably benign	Het
Or2n1e	A	G	17: 38,586,039 (GRCm39)	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,996,629 (GRCm39)		probably null	Het
Prpf40a	A	T	2: 53,046,639 (GRCm39)	S324T	probably benign	Het
Psmb7	T	C	2: 38,530,199 (GRCm39)	D94G	probably damaging	Het
Psmd11	A	G	11: 80,336,767 (GRCm39)	T140A	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rbp3	G	A	14: 33,676,418 (GRCm39)	R122H	probably benign	Het
Relch	T	G	1: 105,659,007 (GRCm39)		probably null	Het
Rrp8	T	C	7: 105,385,596 (GRCm39)	E3G	probably damaging	Het
Sacm1l	T	C	9: 123,371,485 (GRCm39)	S37P	probably damaging	Het
Slc12a3	A	G	8: 95,085,099 (GRCm39)	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,051,814 (GRCm39)	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,624,953 (GRCm39)	Q281R	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,126 (GRCm39)	V147I	probably benign	Het
Tefm	A	G	11: 80,028,814 (GRCm39)	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,738,547 (GRCm39)	V145E	probably damaging	Het
Tmem231	T	A	8: 112,641,897 (GRCm39)	E219V	probably null	Het
Tmx3	T	A	18: 90,555,334 (GRCm39)		probably null	Het
Tns3	G	A	11: 8,442,987 (GRCm39)	P459S	probably damaging	Het
Trav13d-1	T	A	14: 53,089,220 (GRCm39)	S76R	probably benign	Het
Trp63	A	G	16: 25,681,210 (GRCm39)	N254S	probably damaging	Het
Tsen34	A	G	7: 3,696,984 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,959,064 (GRCm39)	V701A	probably damaging	Het
Usp36	A	G	11: 118,159,411 (GRCm39)	S513P	probably damaging	Het
Uspl1	T	A	5: 149,141,176 (GRCm39)	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,899,007 (GRCm39)	C450S	probably benign	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zkscan7	C	T	9: 122,724,299 (GRCm39)	Q423*	probably null	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
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
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'- GTCCCCTAAATAACTGCAAAGTG -3'
(R):5'- CCCTCAAATCAGTTCTTTTCAGTACAG -3'

Sequencing Primer
(F):5'- TGGAGCCCACTTTGTAGAAC -3'
(R):5'- TTTCAGTACAGAGAAGTTACAATCAC -3'

Posted On

2018-03-15