Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Metap1d'

306807

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Metap1d

Ensembl Gene

ENSMUSG00000041921

Gene Name

methionyl aminopeptidase type 1D (mitochondrial)

Synonyms

2310066F24Rik, Metapl1, 3110033D18Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

71453276-71525194 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71512162 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 178 (D178E)

Ref Sequence

ENSEMBL: ENSMUSP00000048190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037210]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037210
AA Change: D178E

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

SMART Domains

Protein: ENSMUSP00000048190
Gene: ENSMUSG00000041921
AA Change: D178E

Domain	Start	End	E-Value	Type
low complexity region	35	46	N/A	INTRINSIC
low complexity region	49	65	N/A	INTRINSIC
Pfam:Peptidase_M24	95	322	5.1e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148164

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Metap1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Metap1d	APN	2	71515746	missense	probably damaging	1.00
IGL01733:Metap1d	APN	2	71511433	missense	probably damaging	1.00
R6807_Metap1d_570	UTSW	2	71511514	missense	probably damaging	1.00
R0294:Metap1d	UTSW	2	71522545	missense	probably benign
R1678:Metap1d	UTSW	2	71524777	missense	possibly damaging	0.95
R1917:Metap1d	UTSW	2	71511527	missense	probably damaging	1.00
R1934:Metap1d	UTSW	2	71522583	missense	possibly damaging	0.95
R2179:Metap1d	UTSW	2	71453371	missense	probably benign
R2512:Metap1d	UTSW	2	71522610	missense	probably damaging	0.97
R4614:Metap1d	UTSW	2	71524948	missense	probably benign	0.02
R4695:Metap1d	UTSW	2	71524961	makesense	probably null
R6236:Metap1d	UTSW	2	71515678	missense	probably benign	0.05
R6248:Metap1d	UTSW	2	71515760	nonsense	probably null
R6807:Metap1d	UTSW	2	71511514	missense	probably damaging	1.00
R7296:Metap1d	UTSW	2	71506785	missense	probably benign	0.05
R7796:Metap1d	UTSW	2	71512162	missense	probably damaging	1.00
R8183:Metap1d	UTSW	2	71506863	missense	possibly damaging	0.66
R8337:Metap1d	UTSW	2	71515638	missense	probably damaging	1.00

Posted On

2015-04-16