Mutagenetix > Incidental Mutation

Incidental Mutation 'R6644:Meioc'

526027

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

044765-MU

Accession Numbers

Essential gene?

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

Stock #

R6644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 102668460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116246 (fasta)

Gene Model

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

AlphaFold

A2AG06

Predicted Effect

probably null
Transcript: ENSMUST00000100378

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455

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 null
Transcript: ENSMUST00000156590

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455

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

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	G	4: 107,894,922	I130S	probably damaging	Het
Abca7	C	T	10: 80,008,764	P1461L	probably damaging	Het
Abhd14a	T	C	9: 106,444,273	Y10C	probably damaging	Het
Adcy2	C	T	13: 68,668,552	V772M	possibly damaging	Het
Apob	A	G	12: 8,009,077	M2487V	probably damaging	Het
B4galnt1	T	C	10: 127,171,793		probably null	Het
Cabp7	C	T	11: 4,740,396	V76I	probably benign	Het
Cbr3	A	G	16: 93,690,511	Y194C	probably damaging	Het
Cdk18	G	A	1: 132,122,069	Q58*	probably null	Het
Cryba4	T	C	5: 112,246,762	D167G	probably damaging	Het
Dner	T	C	1: 84,395,707	N588S	probably damaging	Het
Dnm1l	T	C	16: 16,329,873	I343V	probably benign	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Fam71d	T	A	12: 78,715,286	D241E	probably damaging	Het
Fbxw17	G	A	13: 50,423,219	R49Q	probably damaging	Het
Gm10332	T	A	14: 54,820,159	F59I	probably damaging	Het
Gm6803	A	G	12: 88,018,690	F28L	probably benign	Het
Gm8765	A	G	13: 50,702,035	T570A	possibly damaging	Het
Gnai3	A	G	3: 108,123,536		probably null	Het
Helz	T	A	11: 107,632,261	M75K	possibly damaging	Het
Hnrnph3	C	T	10: 63,018,893		probably benign	Het
Ifi211	C	T	1: 173,905,552	C181Y	probably benign	Het
Immp1l	A	G	2: 105,937,045	K83R	probably damaging	Het
Itga6	G	A	2: 71,841,124	G740R	probably damaging	Het
Klhl1	T	C	14: 96,517,918	T134A	probably benign	Het
Klhl7	A	G	5: 24,149,246	D353G	probably damaging	Het
Map3k1	A	G	13: 111,752,449	S1325P	probably benign	Het
Map3k4	A	G	17: 12,232,410		probably null	Het
Mfap5	T	C	6: 122,520,596	F26L	probably damaging	Het
Myo5a	A	G	9: 75,146,967	T386A	probably damaging	Het
Npc1l1	A	T	11: 6,214,013	L1266Q	probably damaging	Het
Npc1l1	G	T	11: 6,214,014	L1266M	probably damaging	Het
Olfr1221	A	G	2: 89,111,981	M177T	probably benign	Het
Olfr612	C	A	7: 103,539,058	V59F	possibly damaging	Het
Pbld1	T	A	10: 63,075,063	S233T	probably damaging	Het
Phf12	A	G	11: 78,026,092	*789W	probably null	Het
Sf3b2	A	T	19: 5,279,964		probably null	Het
Slc23a3	A	G	1: 75,128,547	I459T	probably damaging	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Stard9	A	C	2: 120,695,772	M837L	probably benign	Het
Stx5a	A	T	19: 8,755,248		probably benign	Het
Tmc7	A	G	7: 118,538,162	V719A	probably benign	Het
Trank1	T	A	9: 111,364,834	I642K	possibly damaging	Het
Trim34a	T	C	7: 104,261,037	Y349H	probably damaging	Het
Uba7	A	G	9: 107,981,472	Y834C	possibly damaging	Het
Ube2d1	A	G	10: 71,256,700	S105P	possibly damaging	Het
Vps13a	A	G	19: 16,744,919	V343A	possibly damaging	Het
Zbtb37	G	A	1: 161,032,073	Q221*	probably null	Het
Zfp119b	T	C	17: 55,939,148	N346S	probably benign	Het
Zfp708	G	T	13: 67,070,721	T358K	possibly 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
R7285:Meioc	UTSW	11	102666342	missense	probably benign	0.00
R7440:Meioc	UTSW	11	102674237	missense	possibly damaging	0.67
R7815:Meioc	UTSW	11	102675588	missense	probably damaging	1.00
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'- GAGTAGCTATCCCAACTTCTAACAC -3'
(R):5'- TGCAGATCCAGCACTCAAGAG -3'

Sequencing Primer
(F):5'- CACTCTCCTCATCAACAGAG -3'
(R):5'- TGCAGATCCAGCACTCAAGAGATAAG -3'

Posted On

2018-06-22