Mutagenetix > Incidental Mutations

Incidental Mutation 'R5211:Jmjd1c'

403139

Institutional Source

Beutler Lab

Gene Symbol

Jmjd1c

Ensembl Gene

ENSMUSG00000037876

Gene Name

jumonji domain containing 1C

Synonyms

TRIP8, D630035I23Rik, 5430433L24Rik

MMRRC Submission

042785-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.608) question?

Stock #

R5211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67096125-67256326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 67232016 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1766 (S1766C)

Ref Sequence

ENSEMBL: ENSMUSP00000134551 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000051446
AA Change: S1765C

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

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: S1765C

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: S1585C

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

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: S1585C

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: S1766C

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

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: S1766C

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	G	14: 70,156,784	S181P	probably benign	Het
Adgrf5	A	T	17: 43,422,620	T112S	probably benign	Het
Ascc2	T	C	11: 4,673,399	V545A	possibly damaging	Het
Bmp2	A	T	2: 133,554,630	S69C	probably damaging	Het
Btaf1	T	A	19: 36,996,562	I1378K	probably benign	Het
Ces2b	C	T	8: 104,835,063	T263I	possibly damaging	Het
Cntn5	A	T	9: 9,704,889	V635D	possibly damaging	Het
Dock6	T	C	9: 21,820,352	E1218G	probably benign	Het
Eml6	T	C	11: 29,854,145	I319V	probably benign	Het
Esd	T	C	14: 74,741,192	S65P	probably damaging	Het
Fam71f2	A	T	6: 29,286,099	K128*	probably null	Het
Fstl3	A	T	10: 79,780,178	Q166L	probably benign	Het
Gcn1l1	T	A	5: 115,619,312	S2445T	probably benign	Het
Gfy	C	A	7: 45,177,858	L271F	possibly damaging	Het
Gjc2	A	G	11: 59,177,458	V66A	possibly damaging	Het
Gm7271	C	A	5: 76,516,403	T113K	possibly damaging	Het
Hist1h3d	G	T	13: 23,575,841	G14C	possibly damaging	Het
Itm2c	T	A	1: 85,906,528	V188E	probably damaging	Het
Kcnn3	A	G	3: 89,521,231	T255A	probably benign	Het
Kdm4d	A	C	9: 14,463,104	V486G	probably benign	Het
Krt18	T	G	15: 102,031,453	I362S	probably damaging	Het
Lrrc8d	G	A	5: 105,813,740	R672Q	probably damaging	Het
Ly6f	G	A	15: 75,271,803	V120M	probably damaging	Het
Map3k4	A	G	17: 12,232,434	V1524A	possibly damaging	Het
Mrgprh	T	C	17: 12,877,002	V43A	probably benign	Het
Mx2	A	T	16: 97,547,433	M269L	probably damaging	Het
Myrfl	C	T	10: 116,798,630	V620I	probably benign	Het
Nlrp9b	G	A	7: 20,049,456	C908Y	probably damaging	Het
Nyap2	T	A	1: 81,087,274	M1K	probably null	Het
Olfml3	A	T	3: 103,737,199	H51Q	probably benign	Het
Olfr745	C	T	14: 50,643,253	T324I	possibly damaging	Het
Pcdhb1	G	A	18: 37,266,651	V552I	probably benign	Het
Pm20d1	T	A	1: 131,806,909	I353N	possibly damaging	Het
Sbk2	A	G	7: 4,962,967	F73L	possibly damaging	Het
Scn10a	A	C	9: 119,661,232	L548R	possibly damaging	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slmap	T	C	14: 26,482,962	Y68C	probably damaging	Het
Syde2	T	C	3: 146,001,338	V611A	probably benign	Het
Sympk	A	G	7: 19,035,889	M164V	probably benign	Het
Syt17	T	C	7: 118,442,403	S43G	probably benign	Het
Ubr1	T	C	2: 120,893,170	T1303A	possibly damaging	Het
Vmn2r100	A	G	17: 19,525,995	Y535C	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGCTGCTTATCACTGTCAC -3'
(R):5'- AAGAGGTGGCATTATCACAGC -3'

Sequencing Primer
(F):5'- CACTGTCACTATATAATGCCTGAGAC -3'
(R):5'- GGTGGCATTATCACAGCTAAAATGTC -3'

Posted On

2016-07-22