Mutagenetix > Incidental Mutations

Incidental Mutation 'R8854:Meioc'

675190

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R8854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102675763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 735 (M735T)

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: M735T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: M735T

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 benign
Transcript: ENSMUST00000156590

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	T	14: 8,518,638	S273T	probably damaging	Het
Aldh1a1	G	A	19: 20,610,933	W29*	probably null	Het
Ankib1	C	A	5: 3,727,489	W467L	probably null	Het
Arhgef10	A	G	8: 14,979,798		probably null	Het
Arpc1b	C	A	5: 145,123,595	R66S	probably benign	Het
Atoh1	A	T	6: 64,729,205		probably benign	Het
Bach2	T	A	4: 32,575,263	D619E	possibly damaging	Het
Bbs9	T	C	9: 22,578,764	I277T	probably damaging	Het
BC027072	T	C	17: 71,749,331	Y1117C	probably benign	Het
Cadps2	G	A	6: 23,385,508	P772S	probably damaging	Het
Cd1d1	T	A	3: 86,998,173	D171V	probably damaging	Het
Clca2	C	T	3: 145,078,091	A588T	possibly damaging	Het
Cps1	A	G	1: 67,160,889	K399E	probably damaging	Het
Cpt1a	T	C	19: 3,356,327	S98P	probably benign	Het
Cryzl2	A	G	1: 157,458,800	K36R	possibly damaging	Het
Cxcl13	T	C	5: 95,957,002	L11P	unknown	Het
Dbf4	T	A	5: 8,408,562	D151V	probably damaging	Het
Eogt	A	T	6: 97,131,398	C227*	probably null	Het
Fam129a	A	G	1: 151,709,199	K516E	probably damaging	Het
Fermt3	T	A	19: 7,013,942	D231V	probably damaging	Het
Gm21761	T	A	13: 119,916,289		probably benign	Het
Il2rb	T	C	15: 78,485,753	T229A	probably benign	Het
Ildr1	T	A	16: 36,715,548	Y142N	probably damaging	Het
Kcnv2	A	T	19: 27,333,858	T542S	probably benign	Het
Kif26b	G	A	1: 178,916,383	G1348E	possibly damaging	Het
Lancl1	C	T	1: 67,034,199	E42K	possibly damaging	Het
Lrp1	T	A	10: 127,543,099	D4010V	probably damaging	Het
Mark2	A	G	19: 7,281,004	V640A	probably benign	Het
Megf6	C	T	4: 154,268,012	T1276M	probably damaging	Het
Mfsd4b5	C	A	10: 39,970,739	V282L	probably damaging	Het
Mlx	T	A	11: 101,091,125	V286E		Het
Ms4a18	G	A	19: 11,013,523	T69I	probably benign	Het
Muc1	C	T	3: 89,232,105	P604L	probably damaging	Het
Net1	G	T	13: 3,884,214	D548E	probably benign	Het
Ngly1	T	C	14: 16,281,769	S342P	probably damaging	Het
Nipbl	A	T	15: 8,300,726	I2405N	probably damaging	Het
Nkx2-1	A	T	12: 56,533,421	C245S	probably benign	Het
Olfr502	T	A	7: 108,523,729	I74L	probably benign	Het
Olfr598	T	C	7: 103,328,816	I110T	probably damaging	Het
Pcdhgb5	C	T	18: 37,732,448	T432I	probably benign	Het
Plpp4	T	A	7: 129,307,638	L24*	probably null	Het
Pnmal1	T	C	7: 16,961,179	S320P	possibly damaging	Het
Sass6	C	A	3: 116,605,735	Q93K	possibly damaging	Het
Sirpb1c	T	C	3: 15,833,144	N177S	possibly damaging	Het
Slc22a30	A	G	19: 8,386,390		probably null	Het
Snd1	A	G	6: 28,526,969	H217R	probably benign	Het
Spata31d1c	C	A	13: 65,035,990	Q449K	possibly damaging	Het
Spidr	A	G	16: 15,889,766	V889A	probably damaging	Het
Suclg2	A	T	6: 95,595,669	V105D	probably damaging	Het
Syne1	A	T	10: 5,128,503	M974K	probably benign	Het
Tbrg4	A	T	11: 6,616,691	D605E	probably benign	Het
Tcn2	A	G	11: 3,926,074	F118S	possibly damaging	Het
Tfap4	T	C	16: 4,549,374	H208R	probably benign	Het
Trf	A	G	9: 103,230,330		probably benign	Het
Trpc4	A	T	3: 54,194,701	K7*	probably null	Het
Uap1	G	T	1: 170,149,415	P405Q	probably damaging	Het
Usp33	C	A	3: 152,368,330	T271N	probably benign	Het
Usp42	T	C	5: 143,716,877	D663G	possibly damaging	Het
Vmn2r10	T	C	5: 108,996,260	D608G	probably benign	Het
Wfdc16	G	A	2: 164,638,566	P3L	probably benign	Het
Zfp28	T	C	7: 6,394,939	I791T	probably benign	Het
Zfp970	A	T	2: 177,473,295	T5S	probably damaging	Het
Zfy1	A	T	Y: 726,501	H421Q	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTTAATAGCCACAGACAAGGAAGTGG -3'
(R):5'- TGGACTGAACACACTGTTACTTC -3'

Sequencing Primer
(F):5'- GTGAATCGCACACAGGCCTC -3'
(R):5'- CTGAACACACTGTTACTTCTAAATGG -3'

Posted On

2021-07-15