Mutagenetix > Incidental Mutation

Incidental Mutation 'R5029:M1ap'

391555

Institutional Source

Beutler Lab

Gene Symbol

M1ap

Ensembl Gene

ENSMUSG00000030041

Gene Name

meiosis 1 associated protein

Synonyms

D6Mm5e

MMRRC Submission

042620-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82923889-83007290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 82980813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 233 (D233A)

Ref Sequence

ENSEMBL: ENSMUSP00000109613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113980]

AlphaFold

Q9Z0E1

Predicted Effect

probably damaging
Transcript: ENSMUST00000113980
AA Change: D233A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
AA Change: D233A

Domain	Start	End	E-Value	Type
low complexity region	151	163	N/A	INTRINSIC
low complexity region	239	250	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
low complexity region	482	500	N/A	INTRINSIC
low complexity region	504	512	N/A	INTRINSIC

Meta Mutation Damage Score

0.2442

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

97% (61/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility with oligospermia, globozooaspermiam decreased testies weight and size, degeneration of seminiferous tubules, male germ cell apoptosis and arrested male meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Ank	T	C	15: 27,590,439 (GRCm39)	V341A	probably benign	Het
Bnip3	T	A	7: 138,499,848 (GRCm39)		probably benign	Het
C1galt1	A	G	6: 7,863,931 (GRCm39)	K4E	possibly damaging	Het
Cbs	T	A	17: 31,834,456 (GRCm39)	Q511L	possibly damaging	Het
Ccdc117	T	C	11: 5,484,897 (GRCm39)	H109R	possibly damaging	Het
Cdh4	T	A	2: 179,523,742 (GRCm39)	V440D	possibly damaging	Het
Cnot4	T	C	6: 35,054,962 (GRCm39)	N109S	probably damaging	Het
Dact2	A	T	17: 14,416,114 (GRCm39)	S695R	probably benign	Het
Defa21	A	T	8: 21,516,381 (GRCm39)	E75V	probably damaging	Het
Dimt1	A	G	13: 107,093,630 (GRCm39)	D274G	probably null	Het
Dstyk	G	T	1: 132,377,062 (GRCm39)	V223L	probably benign	Het
Dync1h1	T	A	12: 110,584,444 (GRCm39)	S616T	possibly damaging	Het
Fer1l6	A	T	15: 58,515,769 (GRCm39)	I1619F	probably benign	Het
Gm4744	T	A	6: 40,926,341 (GRCm39)	Y83F	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hpx	T	G	7: 105,240,971 (GRCm39)	Y434S	probably damaging	Het
Ints4	A	G	7: 97,158,981 (GRCm39)	D451G	probably benign	Het
Itgb4	A	T	11: 115,879,417 (GRCm39)		probably benign	Het
Jph1	T	A	1: 17,161,615 (GRCm39)	N349I	possibly damaging	Het
Klrg1	A	G	6: 122,259,694 (GRCm39)	L26P	probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mycbp2	A	G	14: 103,393,946 (GRCm39)	S2762P	probably benign	Het
Myh11	T	A	16: 14,023,489 (GRCm39)	Q1556L	probably damaging	Het
N4bp2	A	G	5: 65,972,123 (GRCm39)	D1428G	probably damaging	Het
Ndc80	A	C	17: 71,815,760 (GRCm39)	C342G	probably benign	Het
Nxn	A	C	11: 76,165,356 (GRCm39)	Y199*	probably null	Het
Or6c206	T	A	10: 129,097,707 (GRCm39)	N292K	probably benign	Het
Or7c19	C	T	8: 85,957,835 (GRCm39)	A237V	probably benign	Het
Or8j3b	A	G	2: 86,205,234 (GRCm39)	I174T	probably damaging	Het
Pacs1	A	G	19: 5,192,299 (GRCm39)	F691L	probably benign	Het
Pcdhga12	T	C	18: 37,899,864 (GRCm39)	V232A	probably benign	Het
Pik3cb	A	T	9: 98,936,113 (GRCm39)	M773K	probably damaging	Het
Plxnb1	T	C	9: 108,943,723 (GRCm39)	Y1937H	probably damaging	Het
Ppfia2	C	A	10: 106,693,304 (GRCm39)	T603N	probably benign	Het
Psg22	A	G	7: 18,453,662 (GRCm39)	Y119C	probably damaging	Het
Saraf	G	T	8: 34,628,412 (GRCm39)	R86L	probably damaging	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stpg3	T	C	2: 25,104,576 (GRCm39)	N13S	probably damaging	Het
Taf1a	T	A	1: 183,177,273 (GRCm39)	D50E	possibly damaging	Het
Tlr1	T	A	5: 65,083,024 (GRCm39)	N518Y	probably damaging	Het
Tnik	G	A	3: 28,719,993 (GRCm39)		probably null	Het
Tomm70a	T	A	16: 56,942,514 (GRCm39)	L97Q	probably benign	Het
Vmn2r97	T	A	17: 19,168,173 (GRCm39)	V809E	probably damaging	Het
Vps13d	T	C	4: 144,882,852 (GRCm39)	I914V	probably benign	Het
Zfyve26	A	T	12: 79,333,097 (GRCm39)	H291Q	probably damaging	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	probably damaging	Het

Other mutations in M1ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:M1ap	APN	6	82,933,646 (GRCm39)	missense	probably damaging	1.00
IGL01511:M1ap	APN	6	83,005,393 (GRCm39)	missense	probably benign	0.00
IGL01803:M1ap	APN	6	82,982,565 (GRCm39)	missense	probably benign	0.01
IGL02243:M1ap	APN	6	83,003,269 (GRCm39)	missense	probably damaging	1.00
R1799:M1ap	UTSW	6	82,982,491 (GRCm39)	nonsense	probably null
R2073:M1ap	UTSW	6	82,958,863 (GRCm39)	missense	probably benign	0.05
R2074:M1ap	UTSW	6	82,958,863 (GRCm39)	missense	probably benign	0.05
R2355:M1ap	UTSW	6	82,933,484 (GRCm39)	missense	probably benign	0.00
R4063:M1ap	UTSW	6	82,980,756 (GRCm39)	missense	probably damaging	1.00
R5024:M1ap	UTSW	6	83,005,339 (GRCm39)	unclassified	probably benign
R5564:M1ap	UTSW	6	82,958,798 (GRCm39)	missense	probably damaging	1.00
R5740:M1ap	UTSW	6	82,958,903 (GRCm39)	missense	probably damaging	0.96
R5821:M1ap	UTSW	6	82,945,083 (GRCm39)	missense	probably benign	0.11
R5860:M1ap	UTSW	6	82,980,795 (GRCm39)	missense	probably damaging	1.00
R6190:M1ap	UTSW	6	82,980,877 (GRCm39)	missense	possibly damaging	0.60
R6773:M1ap	UTSW	6	82,945,061 (GRCm39)	missense	probably damaging	1.00
R7350:M1ap	UTSW	6	82,958,930 (GRCm39)	missense	probably benign	0.38
R7736:M1ap	UTSW	6	82,982,565 (GRCm39)	missense	probably benign	0.00
R9684:M1ap	UTSW	6	82,945,094 (GRCm39)	missense	probably benign	0.28
Z1176:M1ap	UTSW	6	82,945,023 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTGGGGAGAAAACCTTTAAAT -3'
(R):5'- GGTCACTCTTGAGAACACCAT -3'

Sequencing Primer
(F):5'- GACATTGTCCTTGAGACG -3'
(R):5'- AGTCTCACCCAATCCCTGG -3'

Posted On

2016-06-06