Mutagenetix > Incidental Mutations

Incidental Mutation 'R6410:Meioc'

514582

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

Gm1564, LOC380729, LOC268491

MMRRC Submission

044383-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R6410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102663716-102682237 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102675034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 492 (N492S)

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: N492S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: N492S

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: N436S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: N436S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	C	T	4: 133,062,899	R484W	probably damaging	Het
Arhgap24	T	A	5: 102,892,151	I411N	probably benign	Het
Armt1	A	G	10: 4,453,826	S304G	probably benign	Het
Atg9b	T	A	5: 24,386,110	N774I	possibly damaging	Het
C1s1	C	T	6: 124,531,158	C624Y	probably damaging	Het
Camsap2	C	A	1: 136,345,444		probably benign	Het
Cd109	T	C	9: 78,657,516	S248P	probably benign	Het
Cd28	A	T	1: 60,765,283	H140L	probably benign	Het
Csmd3	G	A	15: 48,673,407	T133I	probably damaging	Het
D430041D05Rik	A	T	2: 104,168,203		probably null	Het
Defb47	T	C	14: 63,000,993	V56A	probably benign	Het
Fxyd5	T	C	7: 31,035,406	E132G	probably damaging	Het
H2-M2	A	G	17: 37,483,213	V40A	probably damaging	Het
H2-Q7	T	C	17: 35,440,176	L201P	probably benign	Het
Klra9	T	G	6: 130,178,994	D266A	probably damaging	Het
Mgea5	T	C	19: 45,776,045		probably null	Het
Nmt2	A	G	2: 3,316,178	E341G	probably damaging	Het
Nutm1	A	C	2: 112,248,729	V947G	possibly damaging	Het
Olfr873	T	A	9: 20,300,452	I84N	probably damaging	Het
Pm20d1	G	A	1: 131,798,596	G57D	probably benign	Het
Pnpla5	A	G	15: 84,120,679	I157T	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Sv2b	A	T	7: 75,140,109	I392N	probably benign	Het
Wfdc8	T	A	2: 164,597,743	I240F	probably benign	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
R6644:Meioc	UTSW	11	102668460	critical splice donor site	probably null
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
Z1177:Meioc	UTSW	11	102666364	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCCTCACACAGCTTGTCC -3'
(R):5'- AGACTGAATTCTTTCTGCACCG -3'

Sequencing Primer
(F):5'- TCACACAGCTTGTCCAACTAATAATG -3'
(R):5'- TCTGCACCGTTGTAACTAAAATC -3'

Posted On

2018-05-04