Mutagenetix > Incidental Mutation

Incidental Mutation 'R7815:Meioc'

601479

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

Accession Numbers

Essential gene?

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

Stock #

R7815 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102675588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 677 (N677Y)

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: N677Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: N677Y

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: 99.7%
20x: 99.1%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,830,427	D1285G	probably benign	Het
Abcc9	A	G	6: 142,652,605	V669A	probably damaging	Het
Ajap1	C	A	4: 153,432,831	G18C	probably damaging	Het
Alms1	G	T	6: 85,615,358	M397I	probably benign	Het
Ampd2	A	T	3: 108,074,931	M794K	probably benign	Het
Ankrd35	A	T	3: 96,684,801	Q801L	probably damaging	Het
Casz1	A	T	4: 148,929,305	I109F	possibly damaging	Het
Ces5a	G	A	8: 93,520,995	S297F	possibly damaging	Het
Col7a1	A	G	9: 108,969,565	D1762G	probably damaging	Het
Dsp	A	T	13: 38,191,470	Y1077F	probably benign	Het
Eef2k	A	G	7: 120,858,570	N51D	probably benign	Het
Erbb4	A	G	1: 68,042,726	Y1050H	probably damaging	Het
Fpgt	A	T	3: 155,086,652	S579R	probably benign	Het
Gabra4	T	A	5: 71,657,809	M1L	possibly damaging	Het
Galk2	G	A	2: 125,975,401	S370N	probably damaging	Het
Gpr155	T	A	2: 73,362,560	T516S	probably benign	Het
Homez	T	C	14: 54,858,218	N11S	probably benign	Het
Hspg2	G	A	4: 137,512,464	G494D	probably damaging	Het
Htr3b	C	T	9: 48,945,533	R215Q	probably benign	Het
Igfbp4	A	G	11: 99,041,828	E111G	probably benign	Het
Igkv8-19	T	C	6: 70,341,436	T5A	probably benign	Het
Insrr	A	G	3: 87,808,695	K566E	probably damaging	Het
Iqsec3	A	G	6: 121,473,358	V69A	probably benign	Het
Kdm5d	T	C	Y: 940,702	V1071A	probably damaging	Het
Kif28	A	G	1: 179,735,983	C143R	probably damaging	Het
Kpna6	T	C	4: 129,657,797	M65V	probably benign	Het
L3mbtl3	T	C	10: 26,280,378	S669G	unknown	Het
Man1a2	A	T	3: 100,656,179	I50N	probably damaging	Het
Map3k11	A	T	19: 5,695,639	M356L	possibly damaging	Het
Myom3	A	T	4: 135,801,363	K1108M	possibly damaging	Het
Nav1	C	T	1: 135,584,639	E228K	possibly damaging	Het
Ncapd3	G	A	9: 27,063,440	W736*	probably null	Het
Nfkb1	T	C	3: 135,603,791	D514G	probably damaging	Het
Nnt	T	A	13: 119,357,575	T657S	possibly damaging	Het
Olfr66	A	G	7: 103,881,785	S153P	probably benign	Het
Olfr729	A	G	14: 50,148,796	F26S	probably benign	Het
Oser1	A	T	2: 163,411,416	S58T	possibly damaging	Het
Pcdha5	T	A	18: 36,961,503	I355N	possibly damaging	Het
Pllp	C	G	8: 94,676,176	G99A	probably damaging	Het
Pram1	A	G	17: 33,642,132	N509S	probably benign	Het
Prkd1	A	C	12: 50,425,517	N204K	probably damaging	Het
Prss23	G	A	7: 89,510,045	P272L	probably damaging	Het
Pxdn	T	C	12: 30,005,825	F1057L	probably damaging	Het
Rapgef5	T	A	12: 117,755,967	S777R	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rfx3	A	T	19: 27,826,048	M265K	probably benign	Het
S100a7a	C	A	3: 90,657,812	H105N	probably benign	Het
Serpinb3b	T	C	1: 107,156,895	D132G	probably damaging	Het
Sp7	T	A	15: 102,366,387		probably benign	Het
Tacstd2	A	G	6: 67,535,156	F184S	possibly damaging	Het
Trdc	C	A	14: 54,143,802		probably benign	Het
Trpa1	T	A	1: 14,904,262	H232L	probably benign	Het
Trpc3	G	T	3: 36,655,145	T394K	probably benign	Het
Tuba3b	G	A	6: 145,621,121	V363I	possibly damaging	Het
Tubb2a	C	A	13: 34,074,979	R276L	probably benign	Het
Ubap2l	A	T	3: 90,043,764	L72*	probably null	Het
Vps13a	A	T	19: 16,725,572	D672E	probably damaging	Het
Wdr26	A	G	1: 181,209,073	V166A	probably benign	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Xirp2	G	A	2: 67,509,412	G666R	probably damaging	Het
Zfp131	T	C	13: 119,775,980	K247E	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
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
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
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'- AGTGGACATTATGATCCTGAGGAC -3'
(R):5'- GTCCACTACGGGTTTTAATTGG -3'

Sequencing Primer
(F):5'- GGACATTATGATCCTGAGGACATTCC -3'
(R):5'- CGGGTTTTAATTGGTCTTTGAAATCC -3'

Posted On

2019-12-03