Mutagenetix > Incidental Mutation

Incidental Mutation 'R2024:Meioc'

220329

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

040033-MU

Accession Numbers

Essential gene?

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

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102675358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 600 (A600V)

Ref Sequence

ENSEMBL: ENSMUSP00000097947 (fasta)

Gene Model

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

AlphaFold

A2AG06

Predicted Effect

probably benign
Transcript: ENSMUST00000100378
AA Change: A600V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: A600V

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

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,361,799 (GRCm38)	D280G	probably damaging	Het
Atosa	A	G	9: 75,010,390 (GRCm38)	D757G	probably damaging	Het
Azi2	C	T	9: 118,049,322 (GRCm38)	R77*	probably null	Het
Chd8	T	C	14: 52,231,493 (GRCm38)	D556G	probably benign	Het
Cit	T	C	5: 115,947,924 (GRCm38)	M849T	probably damaging	Het
Cit	T	C	5: 116,005,840 (GRCm38)	S1923P	probably damaging	Het
Col17a1	T	A	19: 47,650,746 (GRCm38)	H1120L	probably benign	Het
Col6a5	G	T	9: 105,936,994 (GRCm38)	H606Q	unknown	Het
Dnajc2	A	C	5: 21,776,790 (GRCm38)	H45Q	probably damaging	Het
Dpp6	A	G	5: 27,709,459 (GRCm38)	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062 (GRCm38)	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,914,696 (GRCm38)	Y250F	possibly damaging	Het
Emc1	G	A	4: 139,360,946 (GRCm38)	E342K	possibly damaging	Het
Fam3c	T	C	6: 22,329,593 (GRCm38)	D45G	probably benign	Het
Fchsd2	A	C	7: 101,198,533 (GRCm38)	D210A	possibly damaging	Het
Flg	T	A	3: 93,279,415 (GRCm38)	M58K	probably damaging	Het
Gabra5	G	A	7: 57,488,950 (GRCm38)	R117C	probably damaging	Het
Gm6741	G	A	17: 91,236,881 (GRCm38)	S24N	probably benign	Het
Grin2a	T	C	16: 9,644,243 (GRCm38)	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,281,918 (GRCm38)	V642G	possibly damaging	Het
Herc6	C	T	6: 57,583,332 (GRCm38)	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Hmgcs2	T	C	3: 98,299,214 (GRCm38)	S371P	probably damaging	Het
Idua	C	T	5: 108,680,734 (GRCm38)	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,695,350 (GRCm38)	C125*	probably null	Het
Krt14	C	T	11: 100,207,218 (GRCm38)	G80R	unknown	Het
Lama5	T	C	2: 180,179,130 (GRCm38)	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,806,502 (GRCm38)	C125Y	unknown	Het
Lig4	A	T	8: 9,972,436 (GRCm38)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,371,918 (GRCm38)	A4821T	probably damaging	Het
Mepe	T	C	5: 104,327,091 (GRCm38)	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365 (GRCm38)	Y999C	probably damaging	Het
Ncbp3	T	A	11: 73,053,520 (GRCm38)	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,439,892 (GRCm38)	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,190,817 (GRCm38)	I38T	probably damaging	Het
Nup155	A	T	15: 8,157,760 (GRCm38)	H1391L	probably damaging	Het
Or4k49	T	A	2: 111,664,823 (GRCm38)	M199K	possibly damaging	Het
Padi6	T	G	4: 140,728,968 (GRCm38)	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,393,875 (GRCm38)	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,019,533 (GRCm38)	V1906A	probably benign	Het
Pom121	T	C	5: 135,381,550 (GRCm38)		probably benign	Het
Psmd9	T	C	5: 123,241,862 (GRCm38)	F115L	probably damaging	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Rai1	T	C	11: 60,185,589 (GRCm38)	F160L	probably damaging	Het
Rhbdl2	A	T	4: 123,826,872 (GRCm38)	R234S	probably damaging	Het
Rnase2a	T	A	14: 51,255,788 (GRCm38)	Y40F	probably damaging	Het
Setd2	T	C	9: 110,549,133 (GRCm38)	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,417,220 (GRCm38)	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,267,264 (GRCm38)	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,890,531 (GRCm38)	T284I	probably damaging	Het
Slfn9	A	G	11: 82,981,681 (GRCm38)	L743P	probably damaging	Het
Smchd1	T	A	17: 71,370,928 (GRCm38)	N1473I	probably benign	Het
Stx1b	A	T	7: 127,815,403 (GRCm38)	D16E	probably benign	Het
Tectb	T	C	19: 55,181,929 (GRCm38)	F71L	probably damaging	Het
Tmem220	T	C	11: 67,034,153 (GRCm38)	I138T	possibly damaging	Het
Tmtc4	T	C	14: 122,921,265 (GRCm38)	N682S	probably benign	Het
Tnc	A	G	4: 63,964,621 (GRCm38)	V1921A	probably damaging	Het
Ubn1	T	G	16: 5,064,623 (GRCm38)	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,736,061 (GRCm38)	S579P	probably damaging	Het
Xdh	A	G	17: 73,921,305 (GRCm38)	L367P	possibly damaging	Het
Zfp280b	T	C	10: 76,038,494 (GRCm38)	L69S	probably damaging	Het
Zfp990	A	C	4: 145,537,404 (GRCm38)	Y324S	possibly 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
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
R4594:Meioc	UTSW	11	102,674,166 (GRCm38)	missense	probably damaging	1.00
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'- GTATTGCCAAGAAAACCCTTCAGC -3'
(R):5'- AAAAGCATGAGGCCTGTGTG -3'

Sequencing Primer
(F):5'- CAAGAAAACCCTTCAGCATTTTCTAG -3'
(R):5'- AGGCCTGTGTGCGATTCAC -3'

Posted On

2014-08-25