Mutagenetix > Incidental Mutation

Incidental Mutation 'R1074:Meioc'

85580

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

039160-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R1074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102675393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 612 (H612Y)

Ref Sequence

ENSEMBL: ENSMUSP00000097947 (fasta)

Gene Model

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

AlphaFold

A2AG06

Predicted Effect

probably damaging
Transcript: ENSMUST00000100378
AA Change: H612Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: H612Y

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

noncoding transcript
Transcript: ENSMUST00000155813

Predicted Effect

probably benign
Transcript: ENSMUST00000156590

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455

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

Meta Mutation Damage Score

0.1149

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (33/34)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	C	1: 26,683,226	K958E	probably benign	Het
Aak1	T	C	6: 86,935,439	S98P	probably damaging	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Acbd3	C	T	1: 180,738,548	Q269*	probably null	Het
Ankrd6	T	C	4: 32,822,232	H179R	probably damaging	Het
Ano1	T	A	7: 144,611,680	N603Y	probably damaging	Het
Catsperg1	T	C	7: 29,206,849	E143G	probably damaging	Het
Epha5	G	T	5: 84,150,395	A383E	probably damaging	Het
Epha5	C	T	5: 84,150,396	A383T	probably damaging	Het
Epn1	T	C	7: 5,095,048	V286A	probably benign	Het
Fam117b	C	T	1: 59,958,326	A279V	possibly damaging	Het
Gm15448	T	C	7: 3,823,070	D308G	probably damaging	Het
Impg2	G	A	16: 56,265,178		probably benign	Het
Man1a2	C	T	3: 100,656,086	R81H	possibly damaging	Het
Medag	G	T	5: 149,412,209	V78L	probably benign	Het
Nab2	G	A	10: 127,663,255	Q385*	probably null	Het
Ncor1	A	G	11: 62,392,551	F437L	probably damaging	Het
Olfr134	T	C	17: 38,175,440	S119P	probably damaging	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr796	T	C	10: 129,608,466	N5S	probably damaging	Het
Pcdhga1	A	G	18: 37,825,087		probably benign	Het
Pik3c2a	G	A	7: 116,350,925	R1286*	probably null	Het
Plk3	T	C	4: 117,131,758	E268G	probably damaging	Het
Pzp	T	A	6: 128,487,924	N1329I	probably benign	Het
Reps1	A	G	10: 18,094,446	T264A	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Srarp	T	A	4: 141,433,396	D42V	probably damaging	Het
Srbd1	T	A	17: 86,003,952	H679L	probably damaging	Het
Tbc1d2b	G	A	9: 90,222,340	P583L	possibly damaging	Het
Vmn2r22	T	C	6: 123,649,258	D73G	probably benign	Het
Zfp512b	A	T	2: 181,589,179	S374R	probably damaging	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
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
R8195:Meioc	UTSW	11	102675067	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'- TGCAGCTTCAAAAGGTTCTAACCACTC -3'
(R):5'- TCCAACAGTGGAACAACTGAATGGC -3'

Sequencing Primer
(F):5'- TCAAAAGGTTCTAACCACTCTTCAG -3'
(R):5'- TCTTAGGGGAAACCCATTTGAACC -3'

Posted On

2013-11-18