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

Gm1564, LOC380729, LOC268491

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102674166 bp (GRCm38)

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: 3,575,754 (GRCm38)	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538 (GRCm38)	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447 (GRCm38)	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554 (GRCm38)	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966 (GRCm38)		probably benign	Het
Cacna2d3	A	G	14: 28,982,346 (GRCm38)	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017 (GRCm38)	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079 (GRCm38)	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037 (GRCm38)	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842 (GRCm38)		probably benign	Het
Dscam	A	T	16: 96,717,996 (GRCm38)	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266 (GRCm38)	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752 (GRCm38)	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836 (GRCm38)	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186 (GRCm38)	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701 (GRCm38)	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805 (GRCm38)	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802 (GRCm38)	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868 (GRCm38)	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766 (GRCm38)	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890 (GRCm38)	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321 (GRCm38)	T226I	probably benign	Het
Mael	T	A	1: 166,235,487 (GRCm38)	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652 (GRCm38)	R49S	probably benign	Het
Mfsd4b1	A	G	10: 40,007,317 (GRCm38)	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432 (GRCm38)	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074 (GRCm38)	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847 (GRCm38)		probably null	Het
Nfe2	A	G	15: 103,248,805 (GRCm38)	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489 (GRCm38)	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482 (GRCm38)	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239 (GRCm38)	S88P	possibly damaging	Het
Or11g25	A	G	14: 50,486,162 (GRCm38)	R235G	probably benign	Het
Or2p2	C	T	13: 21,072,522 (GRCm38)	V260I	probably benign	Het
Or4n4	G	A	14: 50,281,683 (GRCm38)	T190I	probably benign	Het
Or51k1	T	C	7: 104,012,417 (GRCm38)	D95G	probably benign	Het
Or52e5	T	C	7: 105,069,590 (GRCm38)	V41A	probably benign	Het
Or6k6	G	T	1: 174,117,320 (GRCm38)	T232N	probably damaging	Het
Or8b1	A	C	9: 38,488,761 (GRCm38)	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253 (GRCm38)	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599 (GRCm38)	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966 (GRCm38)	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196 (GRCm38)	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671 (GRCm38)		probably benign	Het
Rad51ap2	T	C	12: 11,457,880 (GRCm38)	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389 (GRCm38)	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567 (GRCm38)	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417 (GRCm38)	V46E	probably damaging	Het
Rskr	T	A	11: 78,291,647 (GRCm38)	V94D	possibly damaging	Het
Slmap	A	T	14: 26,465,617 (GRCm38)	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380 (GRCm38)	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068 (GRCm38)	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948 (GRCm38)	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435 (GRCm38)	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969 (GRCm38)	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662 (GRCm38)	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794 (GRCm38)	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042 (GRCm38)	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325 (GRCm38)	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182 (GRCm38)	L335P	probably damaging	Het

Other mutations in Meioc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Meioc	APN	11	102,674,287 (GRCm38)	missense	probably benign	0.33
IGL01952:Meioc	APN	11	102,672,185 (GRCm38)	missense	possibly damaging	0.79
IGL02006:Meioc	APN	11	102,674,266 (GRCm38)	missense	probably damaging	1.00
IGL02195:Meioc	APN	11	102,674,857 (GRCm38)	missense	possibly damaging	0.91
IGL02339:Meioc	APN	11	102,668,448 (GRCm38)	missense	probably benign	0.18
IGL02935:Meioc	APN	11	102,672,191 (GRCm38)	missense	probably benign	0.06
IGL03294:Meioc	APN	11	102,680,669 (GRCm38)	missense	probably damaging	1.00
PIT4519001:Meioc	UTSW	11	102,679,957 (GRCm38)	missense	probably damaging	1.00
R0285:Meioc	UTSW	11	102,672,191 (GRCm38)	missense	probably benign	0.06
R0964:Meioc	UTSW	11	102,680,031 (GRCm38)	missense	probably damaging	1.00
R1074:Meioc	UTSW	11	102,675,393 (GRCm38)	missense	probably damaging	1.00
R2024:Meioc	UTSW	11	102,675,358 (GRCm38)	missense	probably benign	0.00
R4012:Meioc	UTSW	11	102,675,828 (GRCm38)	missense	probably damaging	0.99
R4429:Meioc	UTSW	11	102,675,720 (GRCm38)	missense	probably damaging	1.00
R4491:Meioc	UTSW	11	102,674,920 (GRCm38)	missense	possibly damaging	0.84
R4752:Meioc	UTSW	11	102,674,433 (GRCm38)	missense	probably benign	0.00
R5301:Meioc	UTSW	11	102,680,045 (GRCm38)	missense	probably damaging	1.00
R5352:Meioc	UTSW	11	102,675,313 (GRCm38)	missense	probably benign	0.03
R5646:Meioc	UTSW	11	102,675,257 (GRCm38)	missense	possibly damaging	0.94
R5958:Meioc	UTSW	11	102,675,153 (GRCm38)	missense	probably benign	0.41
R5968:Meioc	UTSW	11	102,675,831 (GRCm38)	missense	probably damaging	0.99
R6157:Meioc	UTSW	11	102,668,401 (GRCm38)	missense	probably damaging	1.00
R6410:Meioc	UTSW	11	102,675,034 (GRCm38)	missense	probably benign	0.00
R6644:Meioc	UTSW	11	102,668,460 (GRCm38)	critical splice donor site	probably null
R7285:Meioc	UTSW	11	102,666,342 (GRCm38)	missense	probably benign	0.00
R7440:Meioc	UTSW	11	102,674,237 (GRCm38)	missense	possibly damaging	0.67
R7815:Meioc	UTSW	11	102,675,588 (GRCm38)	missense	probably damaging	1.00
R7984:Meioc	UTSW	11	102,674,606 (GRCm38)	missense	possibly damaging	0.94
R8009:Meioc	UTSW	11	102,676,743 (GRCm38)	missense	probably damaging	1.00
R8078:Meioc	UTSW	11	102,668,400 (GRCm38)	nonsense	probably null
R8195:Meioc	UTSW	11	102,675,067 (GRCm38)	nonsense	probably null
R8429:Meioc	UTSW	11	102,674,206 (GRCm38)	missense	probably benign	0.06
R8797:Meioc	UTSW	11	102,676,860 (GRCm38)	nonsense	probably null
R8854:Meioc	UTSW	11	102,675,763 (GRCm38)	missense	probably damaging	0.98
R8891:Meioc	UTSW	11	102,668,420 (GRCm38)	missense	probably benign	0.43
R9081:Meioc	UTSW	11	102,674,175 (GRCm38)	missense	probably benign	0.00
R9360:Meioc	UTSW	11	102,674,953 (GRCm38)	missense	probably benign	0.13
R9539:Meioc	UTSW	11	102,674,680 (GRCm38)	missense	probably damaging	0.99
R9549:Meioc	UTSW	11	102,665,724 (GRCm38)	intron	probably benign
R9751:Meioc	UTSW	11	102,675,593 (GRCm38)	nonsense	probably null
Z1177:Meioc	UTSW	11	102,666,364 (GRCm38)	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