Mutagenetix > Incidental Mutation

Incidental Mutation 'R8797:Meioc'

671325

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

068638-MU

Accession Numbers

Essential gene?

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

Stock #

R8797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 102676860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 827 (Q827*)

Ref Sequence

ENSEMBL: ENSMUSP00000097947 (fasta)

Gene Model

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

AlphaFold

A2AG06

Predicted Effect

probably null
Transcript: ENSMUST00000100378
AA Change: Q827*

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: Q827*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,750,396	S1149P	possibly damaging	Het
Acsm5	C	A	7: 119,538,151	P397T	probably damaging	Het
Adamts14	C	T	10: 61,271,002	R113K	probably benign	Het
Baiap2	G	A	11: 120,006,375	V519I	probably benign	Het
Ccna1	C	T	3: 55,045,648	A233T	probably benign	Het
Cdon	T	C	9: 35,478,635	Y862H	probably damaging	Het
Crygc	C	T	1: 65,071,871	A86T	probably benign	Het
Cyb5d2	T	G	11: 72,778,836	N232T	probably benign	Het
Dnah14	C	A	1: 181,637,847	H1193N	probably benign	Het
Dnah17	T	G	11: 118,101,375	E1170A	probably benign	Het
Dnah7b	A	G	1: 46,123,646	Y384C	probably damaging	Het
Fat4	G	A	3: 38,999,129	V4091I	probably benign	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
G6pc2	A	G	2: 69,220,097	Y22C	probably benign	Het
Gpihbp1	A	T	15: 75,597,979	Q181L	possibly damaging	Het
Hhatl	A	T	9: 121,790,899		probably benign	Het
Hist1h2bc	C	T	13: 23,684,569	S113L	probably damaging	Het
Iars	C	A	13: 49,688,262	S75R	probably benign	Het
Igfn1	T	A	1: 135,974,835	I375F	possibly damaging	Het
Itih4	A	G	14: 30,896,572	I647V	probably benign	Het
Jmjd1c	T	A	10: 67,224,837	C703S	probably benign	Het
L3mbtl2	C	T	15: 81,685,414	T619I	possibly damaging	Het
Lct	T	C	1: 128,303,947	T722A	possibly damaging	Het
Meis2	T	C	2: 115,864,505	S386G	probably benign	Het
Mroh8	T	A	2: 157,229,956	D543V	probably damaging	Het
Ms4a13	C	T	19: 11,183,836	R113H	probably benign	Het
Myrfl	T	C	10: 116,777,420	Y826C	probably benign	Het
Nf1	T	C	11: 79,475,885		probably benign	Het
Nrg3	A	C	14: 38,371,286	L542R	probably benign	Het
Olfr1373	T	A	11: 52,145,513	T6S	probably benign	Het
Olfr71	T	C	4: 43,706,455	T38A	probably damaging	Het
Olfr808	T	A	10: 129,767,805	I103K	probably damaging	Het
Pcdh15	A	G	10: 74,584,146	N1212S	probably damaging	Het
Pcsk5	G	A	19: 17,466,108	T1229I	probably benign	Het
Pkd1l3	A	T	8: 109,648,314	H1483L	probably benign	Het
Polr3b	T	A	10: 84,697,015	L840*	probably null	Het
Ppp1r32	T	C	19: 10,478,238	I216V	probably benign	Het
Psd4	A	T	2: 24,397,428	R457S	probably benign	Het
Rgs12	A	G	5: 35,029,571	S194G		Het
Rps3	A	G	7: 99,483,590		probably null	Het
Sgcb	G	T	5: 73,635,693	N255K	probably benign	Het
Sla2	A	G	2: 156,875,879	Y158H	probably damaging	Het
Sla2	G	A	2: 156,875,903	Q150*	probably null	Het
Slc12a2	T	A	18: 57,879,383	Y193N	possibly damaging	Het
Supt16	G	T	14: 52,172,503	T749K	probably damaging	Het
Uqcrc2	A	G	7: 120,640,277	E104G	probably damaging	Het
Vasp	T	C	7: 19,260,638	N251S	unknown	Het
Vmn1r72	A	G	7: 11,670,038	M161T	probably benign	Het
Zc3h18	T	C	8: 122,408,250		probably benign	Het
Zfp981	T	A	4: 146,535,449	L20*	probably null	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
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'- CACCAAGTAACTTCTATTTCTTAGAGT -3'
(R):5'- AACACGAATTTATTTGAGCTGTGTT -3'

Sequencing Primer
(F):5'- CTGAATTAGCCCTTGCCAA -3'
(R):5'- GTGGCCTCAATGTGCACATAC -3'

Posted On

2021-04-30