Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Jmjd1c'

316270

Institutional Source

Beutler Lab

Gene Symbol

Jmjd1c

Ensembl Gene

ENSMUSG00000037876

Gene Name

jumonji domain containing 1C

Synonyms

TRIP8, D630035I23Rik, 5430433L24Rik

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R2061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67096125-67256326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67218426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 323 (E323D)

Ref Sequence

ENSEMBL: ENSMUSP00000134551 (fasta)

Gene Model

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

AlphaFold

Q69ZK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051446
AA Change: E323D

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: E323D

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

possibly damaging
Transcript: ENSMUST00000173689
AA Change: E142D

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: E142D

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: E36D

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

SMART Domains

Protein: ENSMUSP00000134246
Gene: ENSMUSG00000037876
AA Change: E36D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174408
AA Change: E323D

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

SMART Domains

Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: E323D

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

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,268,314	M395V	probably benign	Het
2610507B11Rik	T	A	11: 78,268,749	C541*	probably null	Het
9130011E15Rik	C	T	19: 45,978,667	R12Q	probably damaging	Het
A4gnt	T	C	9: 99,620,359	S191P	probably damaging	Het
AI314180	G	T	4: 58,824,270	P1116T	probably damaging	Het
Ak2	C	T	4: 129,008,197	A221V	probably damaging	Het
Akap9	T	A	5: 3,961,010	V571E	probably damaging	Het
Amph	G	T	13: 19,125,035	E428*	probably null	Het
Arnt2	T	A	7: 84,343,870	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,926,352	Q202*	probably null	Het
Ate1	A	G	7: 130,510,913	C72R	probably damaging	Het
Atox1	A	G	11: 55,454,898	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,319,066	M3L	probably damaging	Het
BC067074	T	A	13: 113,318,094	W225R	probably damaging	Het
Bfsp1	A	G	2: 143,862,678	V85A	probably benign	Het
Caskin2	C	A	11: 115,803,630	V382F	probably benign	Het
Ccdc39	T	A	3: 33,819,896	M596L	probably damaging	Het
Cd22	C	T	7: 30,870,105	V529M	probably damaging	Het
Cd22	A	C	7: 30,876,156	Y154D	probably benign	Het
Cdadc1	T	A	14: 59,581,334	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,720,818	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,641,604		probably benign	Het
Cebpa	G	T	7: 35,119,522	R35L	probably damaging	Het
Chat	T	C	14: 32,446,873	N235S	probably benign	Het
Col12a1	T	A	9: 79,617,705	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,465,280	E231G	probably damaging	Het
Cryaa	G	T	17: 31,681,055	A151S	probably benign	Het
Dab1	A	T	4: 104,678,741	I116F	probably damaging	Het
Ddx43	C	A	9: 78,396,104	N75K	probably benign	Het
Dmbt1	T	G	7: 131,099,133	C1014G	possibly damaging	Het
Dner	C	A	1: 84,405,989	C558F	probably damaging	Het
Dsc2	A	G	18: 20,032,399	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,527,737	R378*	probably null	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Epha6	T	C	16: 59,655,797	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,604,420		noncoding transcript	Het
Faf1	A	T	4: 109,710,808	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,661,453	V85E	probably damaging	Het
Gadl1	T	A	9: 115,941,380	I87N	probably damaging	Het
Galnt14	A	G	17: 73,512,153	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029	Y141*	probably null	Het
Gdap1	A	T	1: 17,145,465		probably benign	Het
Gfod1	A	T	13: 43,303,243		probably null	Het
Gm14295	C	T	2: 176,810,681	R655*	probably null	Het
Gm4353	A	G	7: 116,083,699	S216P	probably damaging	Het
Gm6605	T	A	7: 38,448,282		noncoding transcript	Het
Hectd1	A	T	12: 51,794,444	D634E	probably damaging	Het
Helz2	A	G	2: 181,240,544	I152T	probably damaging	Het
Hivep1	A	G	13: 42,160,124	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,213,245	F144L	probably benign	Het
Itgae	A	T	11: 73,118,622	Q544L	probably benign	Het
Kdm5a	G	T	6: 120,381,617	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377		probably null	Het
Lbp	T	C	2: 158,324,579	V351A	probably benign	Het
Lss	A	T	10: 76,546,098		probably null	Het
Madd	A	C	2: 91,161,486		probably benign	Het
Map6	G	A	7: 99,317,472	V503I	probably damaging	Het
Mark1	A	G	1: 184,928,063	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,255,976	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,470,068	N5S	probably benign	Het
Mdm4	A	T	1: 133,012,651	F48I	probably damaging	Het
Mga	A	T	2: 119,964,980		probably benign	Het
Mknk2	A	T	10: 80,671,557		probably null	Het
Mmp15	T	C	8: 95,370,779	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,103,288	K879R	probably benign	Het
Mycbp2	T	C	14: 103,287,260	K655E	probably damaging	Het
Nasp	T	C	4: 116,611,126	N221D	probably benign	Het
Ndc80	T	C	17: 71,514,218	E245G	probably benign	Het
Nmral1	C	T	16: 4,716,329	E83K	probably damaging	Het
Noa1	T	A	5: 77,304,187	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,255,752	Y211*	probably null	Het
Olfr1420	T	A	19: 11,896,557	Y179N	probably damaging	Het
Olfr1474	A	G	19: 13,471,241	I90M	probably damaging	Het
Olfr148	G	T	9: 39,613,775	M69I	probably benign	Het
Olfr700	A	C	7: 106,805,768	H231Q	probably benign	Het
Olfr723	T	C	14: 49,929,021	I174M	possibly damaging	Het
Otoa	T	C	7: 121,131,328	F584L	probably damaging	Het
Palb2	G	A	7: 122,124,525	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,670,176	M121L	probably benign	Het
Pcsk5	T	C	19: 17,454,872	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,770,160	D731V	probably damaging	Het
Pex11b	C	A	3: 96,635,721	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,877,310	Q398E	probably benign	Het
Pkd1	A	G	17: 24,569,914	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,612,812	N55K	possibly damaging	Het
Plch2	A	T	4: 155,042,841		probably benign	Het
Plcl1	T	A	1: 55,751,345	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,837,329	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,739,230	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,226,174	D23A	probably damaging	Het
Pqlc1	G	T	18: 80,291,715	A232S	probably benign	Het
Prss30	G	A	17: 23,974,668		probably benign	Het
Ptprz1	T	C	6: 23,049,675		probably null	Het
Rec114	T	A	9: 58,652,905		probably benign	Het
Ryr2	T	C	13: 11,665,878		probably null	Het
Ryr3	A	T	2: 112,663,004	I3715N	possibly damaging	Het
Scin	T	C	12: 40,080,948	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,461,308	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,485,651	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,522,795	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,300,711	I179T	probably benign	Het
Slc35b1	T	G	11: 95,385,892	F102V	possibly damaging	Het
Slc6a15	A	G	10: 103,409,734	D526G	probably benign	Het
Spata16	A	G	3: 26,924,370	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,529,584	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,398,152		noncoding transcript	Het
Sufu	T	A	19: 46,397,212	I37N	probably damaging	Het
Tacr1	C	T	6: 82,492,554	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tenm3	C	T	8: 48,342,256		probably null	Het
Tex36	A	T	7: 133,595,223	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,080,028	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,120,286		probably benign	Het
Trim11	A	G	11: 58,982,063	E191G	probably damaging	Het
Ttll3	C	T	6: 113,409,042	A612V	possibly damaging	Het
Ttn	G	A	2: 76,977,122	A89V	probably damaging	Het
Usp37	A	G	1: 74,468,272	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,114,528	V68G	probably benign	Het
Vwf	T	C	6: 125,591,188	S349P	probably damaging	Het
Wt1	G	A	2: 105,131,157		probably null	Het
Zcchc7	T	A	4: 44,895,838	L262H	probably damaging	Het
Zfp873	A	G	10: 82,060,157	S241G	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
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
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'- CAGCACTGTTCACGTATGTATG -3'
(R):5'- GTCACCACGTGCTTGTTCTT -3'

Sequencing Primer
(F):5'- GCTCAAGCAAATAGTCCC -3'
(R):5'- GATCTCTGAGTCTGACACTAGCCAG -3'

Posted On

2015-05-15