Mutagenetix > Incidental Mutation

Incidental Mutation 'R8195:Meioc'

635413

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

067618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R8195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 102675067 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 447 (L447*)

Ref Sequence

ENSEMBL: ENSMUSP00000116246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100378] [ENSMUST00000156590]

AlphaFold

A2AG06

Predicted Effect

probably null
Transcript: ENSMUST00000100378
AA Change: L503*

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: L503*

Domain	Start	End	E-Value	Type
low complexity region	526	537	N/A	INTRINSIC
low complexity region	712	728	N/A	INTRINSIC
Pfam:DUF4582	757	922	5.1e-89	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000156590
AA Change: L447*

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: L447*

Domain	Start	End	E-Value	Type
low complexity region	470	481	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility with small gonads, absent germ cells and arrested meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,274,735	G483R	probably benign	Het
Abca9	T	C	11: 110,138,329	D801G	probably benign	Het
Aldob	T	C	4: 49,538,822	N232S	probably damaging	Het
Ankhd1	T	C	18: 36,654,177	V322A		Het
Arfgef1	T	C	1: 10,173,253	K1024E	probably damaging	Het
Arhgef40	T	A	14: 51,988,769	V90E	probably damaging	Het
Cblc	A	T	7: 19,785,337	S399R	possibly damaging	Het
Ccdc17	T	A	4: 116,599,014	I368K	possibly damaging	Het
Ccdc17	T	A	4: 116,599,016	W369R	probably damaging	Het
Cd276	G	A	9: 58,537,472	T72I	probably damaging	Het
Cdk14	C	T	5: 5,227,159		probably null	Het
Cfap61	C	T	2: 145,947,175	S33L	probably benign	Het
Cmtm2a	A	G	8: 104,293,038	F7L	probably benign	Het
Eif2ak4	T	C	2: 118,450,338	I1062T	possibly damaging	Het
Fcnb	C	T	2: 28,078,318	S209N	possibly damaging	Het
Fxr1	A	T	3: 34,047,729	E204V	probably damaging	Het
Fzd6	T	A	15: 39,031,564	L375Q	probably damaging	Het
Ggta1	T	A	2: 35,422,267	E33V	probably damaging	Het
Gnb1l	T	A	16: 18,544,215	I119N	probably benign	Het
Gpsm1	A	G	2: 26,324,917		probably null	Het
Hecw1	A	G	13: 14,306,107	I885T	probably damaging	Het
Itgb8	T	C	12: 119,168,170	D580G	probably damaging	Het
Kbtbd12	T	A	6: 88,617,931	T306S	possibly damaging	Het
Kctd1	C	T	18: 15,063,243	E108K	unknown	Het
Lrrc36	A	G	8: 105,452,085	D304G	possibly damaging	Het
Lrrn2	A	G	1: 132,937,344	E49G	probably damaging	Het
Lysmd2	C	A	9: 75,626,028	Y88*	probably null	Het
Lzts3	A	G	2: 130,635,185	S448P	probably benign	Het
Mybpc1	A	G	10: 88,558,691	I244T	possibly damaging	Het
Necab3	G	A	2: 154,547,443	A160V	probably benign	Het
Nek8	G	T	11: 78,170,761	P314Q	possibly damaging	Het
Nlrp5	A	G	7: 23,413,337	T140A	probably benign	Het
Olfr655	A	T	7: 104,596,926	F85Y	probably damaging	Het
Olfr763	T	C	10: 129,011,575	C97R	probably damaging	Het
Olfr860	A	T	9: 19,846,484	I45N	probably damaging	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Pgm3	G	A	9: 86,570,321	R29W	probably damaging	Het
Ppp2r3a	A	G	9: 101,213,032	C31R	probably damaging	Het
Prom1	C	T	5: 44,037,428	S334N	possibly damaging	Het
Rai14	C	T	15: 10,575,216	S581N	probably benign	Het
Rbm46	C	T	3: 82,865,468	R119Q	probably benign	Het
Rgs16	T	C	1: 153,740,943	F42S	probably benign	Het
Slc2a6	T	G	2: 27,027,826	E27A	probably benign	Het
Slc38a1	G	A	15: 96,592,566	S110L	probably benign	Het
Sox30	C	T	11: 45,991,765	R541C	probably benign	Het
Sptbn4	C	A	7: 27,408,889	E703*	probably null	Het
Tjp1	A	T	7: 65,343,722	F34L	probably damaging	Het
Trim65	T	C	11: 116,126,211	Q475R	probably benign	Het
Ttc38	A	T	15: 85,844,515	R223*	probably null	Het
Tulp1	T	C	17: 28,364,326	Q80R	probably benign	Het
Utp23	T	C	15: 51,882,202	F139L	possibly damaging	Het
Vmn1r121	A	T	7: 21,098,303	F71I	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Zdbf2	T	C	1: 63,304,066	S535P	possibly damaging	Het
Zfp788	T	G	7: 41,649,377	M479R	probably benign	Het

Other mutations in Meioc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Meioc	APN	11	102674287	missense	probably benign	0.33
IGL01952:Meioc	APN	11	102672185	missense	possibly damaging	0.79
IGL02006:Meioc	APN	11	102674266	missense	probably damaging	1.00
IGL02195:Meioc	APN	11	102674857	missense	possibly damaging	0.91
IGL02339:Meioc	APN	11	102668448	missense	probably benign	0.18
IGL02935:Meioc	APN	11	102672191	missense	probably benign	0.06
IGL03294:Meioc	APN	11	102680669	missense	probably damaging	1.00
PIT4519001:Meioc	UTSW	11	102679957	missense	probably damaging	1.00
R0285:Meioc	UTSW	11	102672191	missense	probably benign	0.06
R0964:Meioc	UTSW	11	102680031	missense	probably damaging	1.00
R1074:Meioc	UTSW	11	102675393	missense	probably damaging	1.00
R2024:Meioc	UTSW	11	102675358	missense	probably benign	0.00
R4012:Meioc	UTSW	11	102675828	missense	probably damaging	0.99
R4429:Meioc	UTSW	11	102675720	missense	probably damaging	1.00
R4491:Meioc	UTSW	11	102674920	missense	possibly damaging	0.84
R4594:Meioc	UTSW	11	102674166	missense	probably damaging	1.00
R4752:Meioc	UTSW	11	102674433	missense	probably benign	0.00
R5301:Meioc	UTSW	11	102680045	missense	probably damaging	1.00
R5352:Meioc	UTSW	11	102675313	missense	probably benign	0.03
R5646:Meioc	UTSW	11	102675257	missense	possibly damaging	0.94
R5958:Meioc	UTSW	11	102675153	missense	probably benign	0.41
R5968:Meioc	UTSW	11	102675831	missense	probably damaging	0.99
R6157:Meioc	UTSW	11	102668401	missense	probably damaging	1.00
R6410:Meioc	UTSW	11	102675034	missense	probably benign	0.00
R6644:Meioc	UTSW	11	102668460	critical splice donor site	probably null
R7285:Meioc	UTSW	11	102666342	missense	probably benign	0.00
R7440:Meioc	UTSW	11	102674237	missense	possibly damaging	0.67
R7815:Meioc	UTSW	11	102675588	missense	probably damaging	1.00
R7984:Meioc	UTSW	11	102674606	missense	possibly damaging	0.94
R8009:Meioc	UTSW	11	102676743	missense	probably damaging	1.00
R8078:Meioc	UTSW	11	102668400	nonsense	probably null
R8429:Meioc	UTSW	11	102674206	missense	probably benign	0.06
R8797:Meioc	UTSW	11	102676860	nonsense	probably null
R8854:Meioc	UTSW	11	102675763	missense	probably damaging	0.98
R8891:Meioc	UTSW	11	102668420	missense	probably benign	0.43
R9081:Meioc	UTSW	11	102674175	missense	probably benign	0.00
R9360:Meioc	UTSW	11	102674953	missense	probably benign	0.13
R9539:Meioc	UTSW	11	102674680	missense	probably damaging	0.99
R9549:Meioc	UTSW	11	102665724	intron	probably benign
R9751:Meioc	UTSW	11	102675593	nonsense	probably null
Z1177:Meioc	UTSW	11	102666364	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGCCTCACACAGCTTGTC -3'
(R):5'- TGAATTCTTTCTGCACCGTTGTAAC -3'

Sequencing Primer
(F):5'- GCTAATGTCTCTGAAAAGCAACAG -3'
(R):5'- TCTGCACCGTTGTAACTAAAATC -3'

Posted On

2020-07-13