Mutagenetix > Incidental Mutation

Incidental Mutation 'R2355:M1ap'

246867

Institutional Source

Beutler Lab

Gene Symbol

M1ap

Ensembl Gene

ENSMUSG00000030041

Gene Name

meiosis 1 associated protein

Synonyms

D6Mm5e

MMRRC Submission

040337-MU

Accession Numbers

Essential gene?

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

Stock #

R2355 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82923889-83007290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82933484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 13 (A13T)

Ref Sequence

ENSEMBL: ENSMUSP00000109613 (fasta)

Gene Model

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

AlphaFold

Q9Z0E1

Predicted Effect

probably benign
Transcript: ENSMUST00000113980
AA Change: A13T

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

SMART Domains

Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
AA Change: A13T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203190

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Ahcyl1	A	G	3: 107,577,533 (GRCm39)	S296P	probably damaging	Het
Alas1	A	G	9: 106,113,673 (GRCm39)	V524A	probably damaging	Het
Amn	C	A	12: 111,238,246 (GRCm39)	D53E	probably damaging	Het
Bbof1	A	G	12: 84,470,223 (GRCm39)	E33G	probably damaging	Het
Ccdc149	T	C	5: 52,578,114 (GRCm39)	E106G	probably damaging	Het
Ceacam5	T	A	7: 17,479,560 (GRCm39)	S226T	probably damaging	Het
Chd7	G	T	4: 8,801,350 (GRCm39)	S698I	possibly damaging	Het
Chst2	A	G	9: 95,288,148 (GRCm39)	L66P	probably damaging	Het
Cps1	C	T	1: 67,195,383 (GRCm39)	P268L	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,036,622 (GRCm39)	M275L	probably benign	Het
Ddx41	T	G	13: 55,682,113 (GRCm39)	M232L	probably benign	Het
Dnah6	C	A	6: 73,133,404 (GRCm39)	A1068S	possibly damaging	Het
Dnah7a	T	C	1: 53,621,661 (GRCm39)	I1155V	probably benign	Het
Dop1b	G	A	16: 93,567,565 (GRCm39)	V611I	probably damaging	Het
Epyc	A	G	10: 97,512,875 (GRCm39)	Y243C	probably damaging	Het
Fam171a1	C	T	2: 3,226,570 (GRCm39)	Q568*	probably null	Het
Gm5930	A	G	14: 44,573,918 (GRCm39)	S105P	probably damaging	Het
Golga4	A	G	9: 118,389,810 (GRCm39)	D2032G	probably benign	Het
Gps2	AGTGCT	A	11: 69,806,207 (GRCm39)		probably null	Het
H2-DMb1	A	G	17: 34,376,289 (GRCm39)	Y136C	probably damaging	Het
Il12b	A	G	11: 44,301,039 (GRCm39)	E185G	probably benign	Het
Kat7	A	C	11: 95,182,407 (GRCm39)	I231R	probably benign	Het
Kcmf1	A	T	6: 72,827,466 (GRCm39)	I58N	probably damaging	Het
Lmf2	A	T	15: 89,235,966 (GRCm39)	V646E	possibly damaging	Het
Lmo7	A	G	14: 102,126,121 (GRCm39)	Q409R	probably damaging	Het
Lmod1	T	A	1: 135,292,253 (GRCm39)	H369Q	probably benign	Het
Mapk8ip2	G	T	15: 89,343,168 (GRCm39)	V637L	probably benign	Het
Mettl25	C	A	10: 105,599,316 (GRCm39)	V570L	probably benign	Het
Mfsd1	T	A	3: 67,508,668 (GRCm39)	N449K	probably damaging	Het
Or56a5	A	T	7: 104,793,020 (GRCm39)	M166K	probably benign	Het
Or5b24	T	C	19: 12,912,383 (GRCm39)	S94P	possibly damaging	Het
Or5d18	T	A	2: 87,865,379 (GRCm39)	I35F	probably damaging	Het
Or6c209	G	A	10: 129,483,711 (GRCm39)	C238Y	probably benign	Het
Pcdhb5	T	A	18: 37,455,169 (GRCm39)	S516R	probably benign	Het
Plppr3	C	T	10: 79,701,194 (GRCm39)	M549I	possibly damaging	Het
Ppl	A	G	16: 4,912,361 (GRCm39)	V740A	probably benign	Het
Rabgef1	C	T	5: 130,240,928 (GRCm39)	T349M	probably benign	Het
Rad51ap2	T	C	12: 11,507,109 (GRCm39)	C344R	probably benign	Het
Shank2	A	G	7: 143,611,455 (GRCm39)	Q172R	possibly damaging	Het
Smg9	G	A	7: 24,119,546 (GRCm39)		probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trim42	A	T	9: 97,241,293 (GRCm39)	N646K	probably damaging	Het
Usp32	T	C	11: 84,896,735 (GRCm39)	I1181V	probably benign	Het
Vwa5b1	C	A	4: 138,319,221 (GRCm39)		probably null	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
R4063:M1ap	UTSW	6	82,980,756 (GRCm39)	missense	probably damaging	1.00
R5024:M1ap	UTSW	6	83,005,339 (GRCm39)	unclassified	probably benign
R5029:M1ap	UTSW	6	82,980,813 (GRCm39)	missense	probably damaging	1.00
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'- TGGTGCCCACATTGAATCC -3'
(R):5'- AGGACACACTCATGCTGGTTC -3'

Sequencing Primer
(F):5'- GTGCCCACATTGAATCCTTTTTAGGG -3'
(R):5'- CTGTACTGTGTATAAGCTGAACAGAG -3'

Posted On

2014-10-30