Mutagenetix > Incidental Mutation

Incidental Mutation 'R8009:Meioc'

616816

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

046049-MU

Accession Numbers

Essential gene?

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

Stock #

R8009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 102676743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 788 (A788P)

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: A788P

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

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: A788P

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

0.2518

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,828,870	N751K	possibly damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Baz1a	A	T	12: 54,895,031	Y1466*	probably null	Het
Casc4	T	C	2: 121,906,761	V261A	probably benign	Het
Ccng1	G	A	11: 40,751,269	H229Y	probably benign	Het
Cenpn	C	A	8: 116,937,237	T256N	probably benign	Het
Ciart	A	G	3: 95,881,317	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,661,458	N36S	probably damaging	Het
Dmrt1	T	A	19: 25,545,881	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,610,908	V37A	possibly damaging	Het
Dock1	T	A	7: 134,745,057	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,136,258		probably null	Het
Esyt1	T	C	10: 128,511,485	E1057G	probably benign	Het
Fsip2	A	G	2: 82,988,449	E4842G	possibly damaging	Het
Gadd45b	G	A	10: 80,931,150	V90I	probably benign	Het
Gfi1	T	A	5: 107,723,801	H79L	probably damaging	Het
Idh2	T	C	7: 80,098,253	H233R	probably benign	Het
Itsn2	G	A	12: 4,664,553	A950T	probably benign	Het
Kcna5	A	G	6: 126,533,554	L537P	probably benign	Het
Krtap5-4	C	T	7: 142,303,934	Q114*	probably null	Het
Loxl3	T	C	6: 83,050,809	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,511,379	T420I	probably damaging	Het
Lrch3	A	T	16: 33,005,713	D720V	possibly damaging	Het
Lrrk1	T	C	7: 66,265,474	D1622G	possibly damaging	Het
Mmp1a	A	T	9: 7,467,235	T271S	possibly damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,453,328	D408V	probably benign	Het
Odf1	A	G	15: 38,226,596	I247V	unknown	Het
Olfr1089	A	G	2: 86,733,504	L36P	probably damaging	Het
Olfr126	A	T	17: 37,850,802	D70V	probably damaging	Het
Pcsk1	T	C	13: 75,126,839	S516P	probably benign	Het
Phactr3	A	C	2: 178,332,944	R523S	probably damaging	Het
Pikfyve	A	G	1: 65,255,134	D1411G	probably damaging	Het
Ppcs	A	T	4: 119,419,065	S281T	probably benign	Het
Prkcg	A	G	7: 3,314,192	D294G	probably benign	Het
Psg28	T	A	7: 18,422,997	I438L	probably damaging	Het
Pspc1	G	A	14: 56,771,847	Q177*	probably null	Het
Rbm33	G	A	5: 28,394,608	G185R		Het
Rps6ka5	T	C	12: 100,577,789	E350G	probably damaging	Het
Satb2	A	G	1: 56,871,758	S243P	probably benign	Het
Serinc5	T	C	13: 92,661,191		probably null	Het
Sgce	T	C	6: 4,691,636	D313G	probably damaging	Het
Sntg1	C	T	1: 8,363,570	V486I	probably damaging	Het
Stxbp5	A	G	10: 9,816,302	V366A	probably damaging	Het
Tep1	A	G	14: 50,824,230	S2610P	possibly damaging	Het
Tlr3	G	A	8: 45,400,782	T167M	not run	Het
Tmem200a	A	G	10: 25,994,006	S122P	probably damaging	Het
Tmprss15	C	T	16: 79,090,863	V19M	probably damaging	Het
Tnks2	T	A	19: 36,852,501	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,078,767	Q28P	probably damaging	Het
Trpm5	T	C	7: 143,080,369	E700G	probably benign	Het
Ubqln3	T	A	7: 104,142,590	I98L	probably benign	Het
Uso1	A	T	5: 92,166,580	E115D	probably benign	Het
Vmn1r28	T	C	6: 58,265,193	V7A	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
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'- TTCTTCCTTATTGGTTTACAGAAGTT -3'
(R):5'- TACGACTCTAGCTTACTGAAATTCTTT -3'

Sequencing Primer
(F):5'- GGTTGCCTTTTGACACCA -3'
(R):5'- CTGGCTTGTTCTCGAAGT -3'

Posted On

2020-01-23