Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01511:M1ap'

89232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

M1ap

Ensembl Gene

ENSMUSG00000030041

Gene Name

meiosis 1 associated protein

Synonyms

D6Mm5e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

82946902-83030309 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83028412 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 434 (D434E)

Ref Sequence

ENSEMBL: ENSMUSP00000109613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089651] [ENSMUST00000113980] [ENSMUST00000149918]

Predicted Effect

probably benign
Transcript: ENSMUST00000089651

SMART Domains

Protein: ENSMUSP00000087079
Gene: ENSMUSG00000068335

Domain	Start	End	E-Value	Type
PH	4	121	1.31e-8	SMART
IRS	151	254	1.21e-45	SMART
PTBI	152	254	3.84e-59	SMART
low complexity region	411	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113980
AA Change: D434E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109613
Gene: ENSMUSG00000030041
AA Change: D434E

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: ENSMUST00000144906

Predicted Effect

probably benign
Transcript: ENSMUST00000149918

Predicted Effect

probably benign
Transcript: ENSMUST00000204891

Predicted Effect

probably benign
Transcript: ENSMUST00000204900

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315	F52L	possibly damaging	Het
Desi1	T	A	15: 82,002,588	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309		probably benign	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930		probably benign	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	probably benign	Het

Other mutations in M1ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00666:M1ap	APN	6	82956665	missense	probably damaging	1.00
IGL01803:M1ap	APN	6	83005584	missense	probably benign	0.01
IGL02243:M1ap	APN	6	83026288	missense	probably damaging	1.00
R1799:M1ap	UTSW	6	83005510	nonsense	probably null
R2073:M1ap	UTSW	6	82981882	missense	probably benign	0.05
R2074:M1ap	UTSW	6	82981882	missense	probably benign	0.05
R2355:M1ap	UTSW	6	82956503	missense	probably benign	0.00
R4063:M1ap	UTSW	6	83003775	missense	probably damaging	1.00
R5024:M1ap	UTSW	6	83028358	unclassified	probably benign
R5029:M1ap	UTSW	6	83003832	missense	probably damaging	1.00
R5564:M1ap	UTSW	6	82981817	missense	probably damaging	1.00
R5740:M1ap	UTSW	6	82981922	missense	probably damaging	0.96
R5821:M1ap	UTSW	6	82968102	missense	probably benign	0.11
R5860:M1ap	UTSW	6	83003814	missense	probably damaging	1.00
R6190:M1ap	UTSW	6	83003896	missense	possibly damaging	0.60
R6773:M1ap	UTSW	6	82968080	missense	probably damaging	1.00
R7350:M1ap	UTSW	6	82981949	missense	probably benign	0.38

Posted On

2013-12-03