Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Meioc'

344275

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

LOC380729, LOC268491, Gm1564

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102556177-102573066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102564992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 203 (G203C)

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: G203C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: G203C

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

noncoding transcript
Transcript: ENSMUST00000155813

Predicted Effect

probably damaging
Transcript: ENSMUST00000156590
AA Change: G147C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: G147C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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
1700109H08Rik	A	G	5: 3,625,754 (GRCm39)	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,754,331 (GRCm39)	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,832,743 (GRCm39)	I264N	probably damaging	Het
Alpk1	G	A	3: 127,477,203 (GRCm39)	A285V	probably damaging	Het
Auh	T	C	13: 53,067,002 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 28,704,303 (GRCm39)	F826S	probably benign	Het
Ccdc54	G	T	16: 50,410,380 (GRCm39)	Y295*	probably null	Het
Ctnna3	G	A	10: 64,421,858 (GRCm39)	V551I	probably benign	Het
Diaph3	C	T	14: 87,223,473 (GRCm39)	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,519,196 (GRCm39)	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,824,742 (GRCm39)	F243S	probably damaging	Het
Fat2	T	C	11: 55,175,578 (GRCm39)	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 26,063,852 (GRCm39)	V793A	probably damaging	Het
Got2	T	C	8: 96,598,814 (GRCm39)	E196G	probably benign	Het
Gsk3b	G	A	16: 37,991,063 (GRCm39)	C107Y	possibly damaging	Het
H2-M5	T	C	17: 37,298,697 (GRCm39)	T250A	possibly damaging	Het
Il17f	T	A	1: 20,848,026 (GRCm39)	T151S	probably damaging	Het
Ints12	A	G	3: 132,814,629 (GRCm39)	N279D	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kynu	T	A	2: 43,569,902 (GRCm39)	S395T	probably benign	Het
Llgl1	C	T	11: 60,597,147 (GRCm39)	T226I	probably benign	Het
Mael	T	A	1: 166,063,056 (GRCm39)	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,256,109 (GRCm39)	R49S	probably benign	Het
Mfsd4b1	A	G	10: 39,883,313 (GRCm39)	S46P	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,348,632 (GRCm39)	Y268*	probably null	Het
Myom1	A	G	17: 71,407,069 (GRCm39)	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,270,046 (GRCm39)		probably null	Het
Nfe2	A	G	15: 103,157,232 (GRCm39)	L253S	probably damaging	Het
Nup205	T	C	6: 35,173,424 (GRCm39)	I478T	probably benign	Het
Nxpe2	T	C	9: 48,230,782 (GRCm39)	D529G	probably damaging	Het
Oard1	T	C	17: 48,722,267 (GRCm39)	S88P	possibly damaging	Het
Or11g25	A	G	14: 50,723,619 (GRCm39)	R235G	probably benign	Het
Or2p2	C	T	13: 21,256,692 (GRCm39)	V260I	probably benign	Het
Or4n4	G	A	14: 50,519,140 (GRCm39)	T190I	probably benign	Het
Or51k1	T	C	7: 103,661,624 (GRCm39)	D95G	probably benign	Het
Or52e5	T	C	7: 104,718,797 (GRCm39)	V41A	probably benign	Het
Or6k6	G	T	1: 173,944,886 (GRCm39)	T232N	probably damaging	Het
Or8b1	A	C	9: 38,400,057 (GRCm39)	H244P	probably damaging	Het
Osgin1	C	T	8: 120,171,992 (GRCm39)	T262I	possibly damaging	Het
Plcb4	A	T	2: 135,844,519 (GRCm39)	M146L	probably damaging	Het
Prkdc	A	T	16: 15,585,830 (GRCm39)	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,078,045 (GRCm39)	A1004V	probably damaging	Het
Rab15	G	A	12: 76,847,445 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,507,881 (GRCm39)	V601A	probably benign	Het
Rasef	T	A	4: 73,698,626 (GRCm39)	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,444,567 (GRCm39)	N139K	probably damaging	Het
Rexo2	A	T	9: 48,391,717 (GRCm39)	V46E	probably damaging	Het
Rskr	T	A	11: 78,182,473 (GRCm39)	V94D	possibly damaging	Het
Slmap	A	T	14: 26,186,772 (GRCm39)	L68H	probably damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,325,894 (GRCm39)	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,970,005 (GRCm39)	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,234,301 (GRCm39)	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,294,231 (GRCm39)	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,613,924 (GRCm39)	D548V	probably damaging	Het
Wdr81	T	C	11: 75,336,620 (GRCm39)	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,319,054 (GRCm39)	N291K	possibly damaging	Het
Zfp119a	G	A	17: 56,173,325 (GRCm39)	R173C	probably benign	Het
Zmynd15	T	C	11: 70,355,008 (GRCm39)	L335P	probably damaging	Het

Other mutations in Meioc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Meioc	APN	11	102,565,113 (GRCm39)	missense	probably benign	0.33
IGL01952:Meioc	APN	11	102,563,011 (GRCm39)	missense	possibly damaging	0.79
IGL02006:Meioc	APN	11	102,565,092 (GRCm39)	missense	probably damaging	1.00
IGL02195:Meioc	APN	11	102,565,683 (GRCm39)	missense	possibly damaging	0.91
IGL02339:Meioc	APN	11	102,559,274 (GRCm39)	missense	probably benign	0.18
IGL02935:Meioc	APN	11	102,563,017 (GRCm39)	missense	probably benign	0.06
IGL03294:Meioc	APN	11	102,571,495 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Meioc	UTSW	11	102,570,783 (GRCm39)	missense	probably damaging	1.00
R0285:Meioc	UTSW	11	102,563,017 (GRCm39)	missense	probably benign	0.06
R0964:Meioc	UTSW	11	102,570,857 (GRCm39)	missense	probably damaging	1.00
R1074:Meioc	UTSW	11	102,566,219 (GRCm39)	missense	probably damaging	1.00
R2024:Meioc	UTSW	11	102,566,184 (GRCm39)	missense	probably benign	0.00
R4012:Meioc	UTSW	11	102,566,654 (GRCm39)	missense	probably damaging	0.99
R4429:Meioc	UTSW	11	102,566,546 (GRCm39)	missense	probably damaging	1.00
R4491:Meioc	UTSW	11	102,565,746 (GRCm39)	missense	possibly damaging	0.84
R4752:Meioc	UTSW	11	102,565,259 (GRCm39)	missense	probably benign	0.00
R5301:Meioc	UTSW	11	102,570,871 (GRCm39)	missense	probably damaging	1.00
R5352:Meioc	UTSW	11	102,566,139 (GRCm39)	missense	probably benign	0.03
R5646:Meioc	UTSW	11	102,566,083 (GRCm39)	missense	possibly damaging	0.94
R5958:Meioc	UTSW	11	102,565,979 (GRCm39)	missense	probably benign	0.41
R5968:Meioc	UTSW	11	102,566,657 (GRCm39)	missense	probably damaging	0.99
R6157:Meioc	UTSW	11	102,559,227 (GRCm39)	missense	probably damaging	1.00
R6410:Meioc	UTSW	11	102,565,860 (GRCm39)	missense	probably benign	0.00
R6644:Meioc	UTSW	11	102,559,286 (GRCm39)	critical splice donor site	probably null
R7285:Meioc	UTSW	11	102,557,168 (GRCm39)	missense	probably benign	0.00
R7440:Meioc	UTSW	11	102,565,063 (GRCm39)	missense	possibly damaging	0.67
R7815:Meioc	UTSW	11	102,566,414 (GRCm39)	missense	probably damaging	1.00
R7984:Meioc	UTSW	11	102,565,432 (GRCm39)	missense	possibly damaging	0.94
R8009:Meioc	UTSW	11	102,567,569 (GRCm39)	missense	probably damaging	1.00
R8078:Meioc	UTSW	11	102,559,226 (GRCm39)	nonsense	probably null
R8195:Meioc	UTSW	11	102,565,893 (GRCm39)	nonsense	probably null
R8429:Meioc	UTSW	11	102,565,032 (GRCm39)	missense	probably benign	0.06
R8797:Meioc	UTSW	11	102,567,686 (GRCm39)	nonsense	probably null
R8854:Meioc	UTSW	11	102,566,589 (GRCm39)	missense	probably damaging	0.98
R8891:Meioc	UTSW	11	102,559,246 (GRCm39)	missense	probably benign	0.43
R9081:Meioc	UTSW	11	102,565,001 (GRCm39)	missense	probably benign	0.00
R9360:Meioc	UTSW	11	102,565,779 (GRCm39)	missense	probably benign	0.13
R9539:Meioc	UTSW	11	102,565,506 (GRCm39)	missense	probably damaging	0.99
R9549:Meioc	UTSW	11	102,556,550 (GRCm39)	intron	probably benign
R9751:Meioc	UTSW	11	102,566,419 (GRCm39)	nonsense	probably null
Z1177:Meioc	UTSW	11	102,557,190 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGGCACACAACTCTTACCAC -3'
(R):5'- TTGCCTTAACTGTATCATTAGCCTG -3'

Sequencing Primer
(F):5'- TGGAAACAGTTTATAAATAAGGGCTG -3'
(R):5'- GCCTGACTATTGTAACAGTTAGAATG -3'

Posted On

2015-09-25