Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02006:Meioc'

183198

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL02006

Quality Score

Status

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102674266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 180 (D180V)

Ref Sequence

ENSEMBL: ENSMUSP00000116246 (fasta)

Gene Model

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

AlphaFold

A2AG06

Predicted Effect

probably damaging
Transcript: ENSMUST00000100378
AA Change: D236V

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

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: D236V

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 damaging
Transcript: ENSMUST00000156590
AA Change: D180V

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

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: D180V

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,199,345	G182S	probably damaging	Het
Akr1b7	A	T	6: 34,415,450	N66I	probably benign	Het
Arrdc3	T	A	13: 80,883,774	I42N	probably damaging	Het
Atp6v0d2	G	T	4: 19,878,325	A316E	probably damaging	Het
Atp8a2	A	G	14: 59,857,048	V847A	possibly damaging	Het
Ccdc171	A	G	4: 83,795,242	N1173D	possibly damaging	Het
Crb2	A	C	2: 37,786,463	D152A	probably damaging	Het
Ecm1	T	C	3: 95,734,244	E559G	probably damaging	Het
Ephb1	A	G	9: 102,194,772		probably null	Het
Fndc11	C	A	2: 181,222,091	R230S	probably damaging	Het
Frem1	A	G	4: 82,992,800		probably null	Het
Fyco1	G	A	9: 123,829,831	Q427*	probably null	Het
Gm17541	A	G	12: 4,689,619		probably benign	Het
Gm5431	C	T	11: 48,888,503	V809M	probably damaging	Het
Gm7293	A	G	9: 51,622,743		noncoding transcript	Het
Ift52	T	C	2: 163,023,369	S47P	probably benign	Het
Iqcf6	A	G	9: 106,627,311	D58G	probably benign	Het
Itm2b	T	C	14: 73,363,048		probably benign	Het
Jakmip1	T	C	5: 37,120,987	I536T	probably damaging	Het
Kcnh1	T	G	1: 192,191,015	M3R	possibly damaging	Het
Kcnh5	G	T	12: 74,897,548	P976T	probably damaging	Het
Layn	G	A	9: 51,057,291		probably benign	Het
Lrrc37a	T	A	11: 103,456,491	Q3126L	probably damaging	Het
Myo15	T	A	11: 60,511,128	C3066S	probably damaging	Het
Nbeal1	T	C	1: 60,272,259		probably null	Het
Negr1	T	C	3: 157,016,173		probably benign	Het
Nek1	T	A	8: 61,104,192	N940K	probably benign	Het
Nfkbib	A	T	7: 28,766,242		probably null	Het
Nol4	T	A	18: 22,921,918	T152S	probably damaging	Het
Oas3	G	T	5: 120,769,235	R446S	probably benign	Het
Olfr225	T	C	11: 59,613,159	L65P	probably damaging	Het
Olfr457	A	G	6: 42,472,091	V29A	probably benign	Het
Oosp3	C	T	19: 11,699,420	L48F	probably damaging	Het
Pik3ap1	C	A	19: 41,302,593	W500L	probably benign	Het
Ppih	A	G	4: 119,311,582		probably benign	Het
Slc7a15	T	C	12: 8,535,508		probably null	Het
Srl	T	C	16: 4,497,286	E164G	probably benign	Het
Tbx10	C	A	19: 3,998,186	T237K	probably damaging	Het
Trove2	G	T	1: 143,760,346		probably benign	Het
Vwa5b2	T	C	16: 20,597,093	V392A	probably damaging	Het
Wfdc5	A	T	2: 164,182,563		probably benign	Het
Xirp2	T	C	2: 67,511,962	F1516L	possibly damaging	Het
Znfx1	A	G	2: 167,055,763	C414R	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
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
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
Z1177:Meioc	UTSW	11	102666364	frame shift	probably null

Posted On

2014-05-07