Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Meioc'

24689

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

LOC380729, LOC268491, Gm1564

MMRRC Submission

038506-MU

Accession Numbers

Essential gene?

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

Stock #

R0285 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

102556177-102573066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102563017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 72 (T72A)

Ref Sequence

ENSEMBL: ENSMUSP00000116246 (fasta)

Gene Model

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

AlphaFold

A2AG06

Predicted Effect

probably benign
Transcript: ENSMUST00000100378
AA Change: T128A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: T128A

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 benign
Transcript: ENSMUST00000156590
AA Change: T72A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: T72A

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

Meta Mutation Damage Score

0.0727

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	A	G	19: 4,038,193 (GRCm39)	E162G	probably benign	Het
Angptl1	T	C	1: 156,672,785 (GRCm39)	S204P	probably benign	Het
Atf6b	C	T	17: 34,869,370 (GRCm39)		probably benign	Het
Card11	G	A	5: 140,872,856 (GRCm39)	S619F	probably damaging	Het
Ccdc192	G	A	18: 57,666,937 (GRCm39)	G5S	probably damaging	Het
Ccl11	G	A	11: 81,953,084 (GRCm39)	V81I	probably damaging	Het
Cds1	T	C	5: 101,944,904 (GRCm39)	I126T	probably damaging	Het
Chd1	A	G	17: 17,594,942 (GRCm39)		probably benign	Het
Cndp1	C	A	18: 84,636,363 (GRCm39)	V384F	possibly damaging	Het
Cuta	A	G	17: 27,158,423 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,352,460 (GRCm39)	T47I	possibly damaging	Het
Dop1a	A	T	9: 86,394,692 (GRCm39)	S598C	probably damaging	Het
Dsp	A	G	13: 38,356,770 (GRCm39)	M217V	probably benign	Het
Entrep1	G	A	19: 23,956,749 (GRCm39)		probably benign	Het
Esyt1	T	A	10: 128,348,087 (GRCm39)	I898F	possibly damaging	Het
Fcsk	G	C	8: 111,620,349 (GRCm39)	H235Q	probably benign	Het
Fgd3	A	T	13: 49,417,424 (GRCm39)	W680R	possibly damaging	Het
Folh1	A	G	7: 86,391,373 (GRCm39)		probably benign	Het
Gadl1	C	A	9: 115,859,806 (GRCm39)		probably benign	Het
Garem1	A	G	18: 21,262,669 (GRCm39)	M715T	probably benign	Het
Gpd2	A	T	2: 57,228,967 (GRCm39)	D257V	probably benign	Het
Hdac7	A	G	15: 97,696,103 (GRCm39)		probably null	Het
Heatr5b	A	G	17: 79,115,882 (GRCm39)	M858T	probably benign	Het
Inpp4b	A	T	8: 82,761,145 (GRCm39)		probably benign	Het
Iqgap3	G	T	3: 88,004,297 (GRCm39)	C461F	probably benign	Het
Lamb1	C	A	12: 31,376,644 (GRCm39)	C559*	probably null	Het
Lratd2	T	C	15: 60,694,816 (GRCm39)	H310R	probably benign	Het
Lrrc31	T	C	3: 30,739,097 (GRCm39)	N308S	probably benign	Het
Ly75	T	C	2: 60,148,663 (GRCm39)	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,373,325 (GRCm39)	R42L	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,761,502 (GRCm39)	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,963,902 (GRCm39)	D650E	probably benign	Het
Ncoa6	T	C	2: 155,257,621 (GRCm39)	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nol4l	G	A	2: 153,325,773 (GRCm39)		probably benign	Het
Notch1	T	G	2: 26,350,873 (GRCm39)	D2089A	possibly damaging	Het
Or10q3	A	G	19: 11,848,502 (GRCm39)	L26P	probably damaging	Het
Or13c7	G	A	4: 43,854,398 (GRCm39)	V30M	possibly damaging	Het
Or52h2	A	T	7: 103,838,531 (GRCm39)	Y294*	probably null	Het
Or5b24	A	T	19: 12,912,536 (GRCm39)	M145L	probably benign	Het
Or5l13	A	G	2: 87,780,475 (GRCm39)	I34T	probably damaging	Het
Or5p68	A	G	7: 107,945,706 (GRCm39)	S161P	probably benign	Het
Or8d23	T	A	9: 38,842,070 (GRCm39)	I201N	possibly damaging	Het
Otof	C	T	5: 30,536,877 (GRCm39)		probably null	Het
Paox	T	C	7: 139,709,053 (GRCm39)	F324L	probably damaging	Het
Pycr1	A	T	11: 120,531,142 (GRCm39)	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,564,568 (GRCm39)	H627L	probably damaging	Het
Rab21	G	A	10: 115,126,768 (GRCm39)	S193L	probably benign	Het
Ralgds	T	G	2: 28,440,581 (GRCm39)		probably null	Het
Rbm42	A	G	7: 30,345,265 (GRCm39)	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,377 (GRCm39)	V262A	probably benign	Het
Rhobtb3	A	G	13: 76,025,628 (GRCm39)	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,838,846 (GRCm39)	A901T	probably damaging	Het
Ryr2	T	C	13: 11,731,863 (GRCm39)	D2359G	probably damaging	Het
Sgo2b	A	C	8: 64,381,823 (GRCm39)	Y336*	probably null	Het
Slc16a7	T	A	10: 125,130,500 (GRCm39)	I62L	probably benign	Het
Slc22a21	A	T	11: 53,850,022 (GRCm39)		probably benign	Het
Slc25a21	A	G	12: 56,904,810 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,898,117 (GRCm39)	I532M	probably damaging	Het
Spata31f1a	G	A	4: 42,850,236 (GRCm39)	T640M	probably benign	Het
Srrm4	C	A	5: 116,605,848 (GRCm39)		probably benign	Het
Stxbp1	C	A	2: 32,713,554 (GRCm39)	E27D	probably benign	Het
Sult2a5	T	A	7: 13,362,685 (GRCm39)	Y131N	probably damaging	Het
Svopl	T	C	6: 37,961,457 (GRCm39)	Q492R	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,224,905 (GRCm39)	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,419,289 (GRCm39)	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,337,068 (GRCm39)	D346V	probably damaging	Het
Ubr4	A	C	4: 139,168,112 (GRCm39)	S2820R	probably damaging	Het
Usp4	T	C	9: 108,255,763 (GRCm39)	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603 (GRCm39)		probably null	Het
Vill	C	T	9: 118,899,895 (GRCm39)		probably benign	Het
Vmn1r13	C	A	6: 57,186,979 (GRCm39)	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,565,873 (GRCm39)	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,232,391 (GRCm39)	W797R	probably damaging	Het
Washc2	T	A	6: 116,198,800 (GRCm39)	D287E	probably damaging	Het
Xpc	G	A	6: 91,475,046 (GRCm39)	L660F	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
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
R4594:Meioc	UTSW	11	102,564,992 (GRCm39)	missense	probably damaging	1.00
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'- GGAGTTGTACCAAGCATTTCTGTGACA -3'
(R):5'- GGTACTTCAGCAAAATCAAGGCTCCTA -3'

Sequencing Primer
(F):5'- ggggatgggaatgcagc -3'
(R):5'- GCAAAATCAAGGCTCCTAGAAAC -3'

Posted On

2013-04-16