Mutagenetix > Incidental Mutations

Incidental Mutation 'R8078:Meioc'

629157

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 #

R8078 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 102668400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 49 (W49*)

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: W105*

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: W105*

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: W49*

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: W49*

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.9%

Validation Efficiency

100% (63/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,301,279	V2884I	probably benign	Het
Actl10	T	A	2: 154,552,570	N147K	probably benign	Het
Agpat2	C	A	2: 26,604,101	C37F	possibly damaging	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Ankrd26	T	A	6: 118,517,893		probably null	Het
Bcas1	T	C	2: 170,418,612	E49G	possibly damaging	Het
Birc3	A	G	9: 7,858,741	V331A	probably damaging	Het
Cadm3	A	G	1: 173,341,059	V314A	probably damaging	Het
Cep290	T	C	10: 100,572,887	V2407A	probably benign	Het
Chd5	C	A	4: 152,360,991	N446K	possibly damaging	Het
Clec9a	A	G	6: 129,409,033	S27G	probably benign	Het
Coro1c	G	T	5: 113,882,103	A17E	probably damaging	Het
Cspg4	T	C	9: 56,890,259	S1336P	possibly damaging	Het
Ddx55	G	A	5: 124,566,388	V353M	probably damaging	Het
Farp1	T	A	14: 121,276,300	S836T	probably benign	Het
Fbll1	G	T	11: 35,797,901	D178E	probably benign	Het
Flg2	T	G	3: 93,200,275	D22E	probably damaging	Het
Glis1	T	A	4: 107,567,902	C237S	probably damaging	Het
Gm5519	T	C	19: 33,822,957	V17A	possibly damaging	Het
Gucy2c	C	A	6: 136,697,921	G1055C	probably damaging	Het
Hspg2	T	C	4: 137,508,022	Y123H	probably damaging	Het
Idh1	T	A	1: 65,161,066	I380F	probably damaging	Het
Il23r	A	T	6: 67,423,593	N584K	probably damaging	Het
Lama1	A	T	17: 67,791,294	T1829S		Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Luzp2	T	A	7: 55,052,762	Y24*	probably null	Het
Masp2	A	T	4: 148,613,778	T439S	probably benign	Het
Mrvi1	T	C	7: 110,899,735	E363G	probably damaging	Het
Mtor	T	G	4: 148,468,287	I749S	probably benign	Het
Myo16	T	A	8: 10,562,078	V1241D	unknown	Het
Ncam2	G	T	16: 81,443,248	R199L	possibly damaging	Het
Nyap2	A	G	1: 81,241,057	S265G	possibly damaging	Het
Olfr1309	T	A	2: 111,983,270	D268V	probably damaging	Het
Parp8	A	T	13: 116,924,983	F175I	probably damaging	Het
Pcnx	A	G	12: 81,975,280	T823A		Het
Phc2	T	A	4: 128,711,062	I197N	probably damaging	Het
Pla2g16	C	T	19: 7,579,161	T109I	probably benign	Het
Pot1a	T	C	6: 25,750,108	I518M	probably benign	Het
Prg2	T	A	2: 84,982,260	C105S	probably benign	Het
Rab39	A	G	9: 53,705,955	L54P	possibly damaging	Het
Rell1	T	A	5: 63,939,721		probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Slc4a4	T	C	5: 89,179,707	Y668H	probably benign	Het
Sncg	C	A	14: 34,374,770		probably benign	Het
Spata31d1b	A	G	13: 59,715,449	D137G	probably damaging	Het
Tas1r1	C	T	4: 152,028,346	G750D	probably damaging	Het
Tcea3	A	T	4: 136,254,514	D61V	probably damaging	Het
Tfap2c	T	A	2: 172,551,472	H102Q	probably damaging	Het
Tmem150a	T	A	6: 72,358,323	L95H	probably damaging	Het
Tnfrsf11a	A	T	1: 105,817,684	D149V	probably damaging	Het
Tsc22d2	C	A	3: 58,416,032	A115E	probably benign	Het
Vmn2r101	T	A	17: 19,590,245	F431Y	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r85	C	A	10: 130,429,495	E40*	probably null	Het
Zfp606	G	A	7: 12,481,015	A57T	possibly damaging	Het
Zfp760	T	C	17: 21,723,455	V537A	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
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

Predicted Primers

PCR Primer
(F):5'- TAGCTATCCCAACTTCTAACACCTG -3'
(R):5'- CTGCAGATCCAGCACTCAAG -3'

Sequencing Primer
(F):5'- CTTCTAACACCTGCATTATTATGT -3'
(R):5'- TGCAGATCCAGCACTCAAGAGATAAG -3'

Posted On

2020-06-30