Mutagenetix > Incidental Mutation

Incidental Mutation 'R2179:Metap1d'

237034

Institutional Source

Beutler Lab

Gene Symbol

Metap1d

Ensembl Gene

ENSMUSG00000041921

Gene Name

methionyl aminopeptidase type 1D (mitochondrial)

Synonyms

2310066F24Rik, 3110033D18Rik, Metapl1

MMRRC Submission

040181-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R2179 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

71283625-71355538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71283715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 5 (I5V)

Ref Sequence

ENSEMBL: ENSMUSP00000048190 (fasta)

Gene Model

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

AlphaFold

Q9CPW9

Predicted Effect

probably benign
Transcript: ENSMUST00000037210
AA Change: I5V

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

SMART Domains

Protein: ENSMUSP00000048190
Gene: ENSMUSG00000041921
AA Change: I5V

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: ENSMUST00000139045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157164

Coding Region Coverage

1x: 99.2%
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.] 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,271,018 (GRCm39)	D849G	possibly damaging	Het
Amz2	A	G	11: 109,320,658 (GRCm39)	H155R	probably damaging	Het
Cfhr4	G	T	1: 139,659,279 (GRCm39)	P679Q	probably damaging	Het
Chuk	C	A	19: 44,092,160 (GRCm39)	C46F	possibly damaging	Het
Cp	A	T	3: 20,042,151 (GRCm39)	D973V	probably damaging	Het
Cpm	T	A	10: 117,519,266 (GRCm39)	D391E	probably benign	Het
Creb3	T	C	4: 43,566,306 (GRCm39)	S271P	probably damaging	Het
Cubn	T	A	2: 13,323,053 (GRCm39)	H2838L	possibly damaging	Het
Dennd2d	A	G	3: 106,399,776 (GRCm39)	H233R	probably benign	Het
Dnaaf2	C	A	12: 69,245,071 (GRCm39)		probably benign	Het
Enpp3	T	A	10: 24,681,793 (GRCm39)	Q304H	probably benign	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Fndc8	A	C	11: 82,789,580 (GRCm39)	K246T	probably damaging	Het
Gaa	A	G	11: 119,165,884 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,119,404 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,653,698 (GRCm39)	T79A	probably damaging	Het
Ikbkb	C	T	8: 23,171,769 (GRCm39)		probably null	Het
Il16	A	T	7: 83,337,287 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,267,940 (GRCm39)	H92L	possibly damaging	Het
Itpr2	A	G	6: 146,277,464 (GRCm39)	M315T	probably benign	Het
Lrba	T	G	3: 86,261,588 (GRCm39)	L1514R	probably damaging	Het
Mcpt2	A	G	14: 56,279,573 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,790,923 (GRCm39)	S2479T	probably damaging	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Mroh2b	G	A	15: 4,950,928 (GRCm39)		probably null	Het
Mtfr1	C	T	3: 19,254,308 (GRCm39)	R15*	probably null	Het
Npm2	A	G	14: 70,885,749 (GRCm39)	V152A	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Ogdhl	A	G	14: 32,057,302 (GRCm39)	N303D	probably damaging	Het
Or10g9	T	C	9: 39,912,220 (GRCm39)	Y101C	probably benign	Het
Or10q1b	T	C	19: 13,682,758 (GRCm39)	V189A	probably damaging	Het
Or4d11	T	C	19: 12,013,452 (GRCm39)	Y218C	probably damaging	Het
Or6s1	A	G	14: 51,308,238 (GRCm39)	V204A	probably benign	Het
Pah	T	C	10: 87,403,197 (GRCm39)	F191L	probably damaging	Het
Paics	A	T	5: 77,109,291 (GRCm39)	I209F	probably damaging	Het
Pcare	T	C	17: 72,059,521 (GRCm39)	D52G	probably damaging	Het
Pld6	A	G	11: 59,678,184 (GRCm39)	L93P	probably damaging	Het
Plod3	T	C	5: 137,019,862 (GRCm39)	F431L	possibly damaging	Het
Ppm1b	T	A	17: 85,301,862 (GRCm39)	D247E	probably damaging	Het
Prx	A	G	7: 27,217,410 (GRCm39)	D637G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,679 (GRCm39)	Y2656*	probably null	Het
Setd2	T	A	9: 110,423,756 (GRCm39)	Y492*	probably null	Het
Shmt1	A	G	11: 60,697,825 (GRCm39)	W9R	possibly damaging	Het
Slc25a17	A	G	15: 81,222,151 (GRCm39)	V107A	probably benign	Het
Sptlc1	A	T	13: 53,505,675 (GRCm39)	Y248N	probably damaging	Het
Stam2	T	C	2: 52,584,936 (GRCm39)	T453A	probably benign	Het
Tango2	G	T	16: 18,128,762 (GRCm39)	N77K	probably damaging	Het
Tas2r121	A	T	6: 132,677,831 (GRCm39)	I47N	probably damaging	Het
Terb1	A	T	8: 105,179,347 (GRCm39)	C614S	probably damaging	Het
Terb1	T	C	8: 105,199,369 (GRCm39)	N525S	probably benign	Het
Ttc6	A	G	12: 57,719,904 (GRCm39)	D825G	possibly damaging	Het
U90926	A	T	5: 92,357,838 (GRCm39)	H104Q	probably benign	Het
Zfand4	G	A	6: 116,291,742 (GRCm39)	A559T	possibly damaging	Het
Zfp462	T	C	4: 55,009,524 (GRCm39)	S497P	possibly damaging	Het

Other mutations in Metap1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Metap1d	APN	2	71,342,506 (GRCm39)	missense	probably damaging	1.00
IGL00475:Metap1d	APN	2	71,346,090 (GRCm39)	missense	probably damaging	1.00
IGL01733:Metap1d	APN	2	71,341,777 (GRCm39)	missense	probably damaging	1.00
R6807_Metap1d_570	UTSW	2	71,341,858 (GRCm39)	missense	probably damaging	1.00
R0294:Metap1d	UTSW	2	71,352,889 (GRCm39)	missense	probably benign
R1678:Metap1d	UTSW	2	71,355,121 (GRCm39)	missense	possibly damaging	0.95
R1917:Metap1d	UTSW	2	71,341,871 (GRCm39)	missense	probably damaging	1.00
R1934:Metap1d	UTSW	2	71,352,927 (GRCm39)	missense	possibly damaging	0.95
R2512:Metap1d	UTSW	2	71,352,954 (GRCm39)	missense	probably damaging	0.97
R4614:Metap1d	UTSW	2	71,355,292 (GRCm39)	missense	probably benign	0.02
R4695:Metap1d	UTSW	2	71,355,305 (GRCm39)	makesense	probably null
R6236:Metap1d	UTSW	2	71,346,022 (GRCm39)	missense	probably benign	0.05
R6248:Metap1d	UTSW	2	71,346,104 (GRCm39)	nonsense	probably null
R6807:Metap1d	UTSW	2	71,341,858 (GRCm39)	missense	probably damaging	1.00
R7296:Metap1d	UTSW	2	71,337,129 (GRCm39)	missense	probably benign	0.05
R7796:Metap1d	UTSW	2	71,342,506 (GRCm39)	missense	probably damaging	1.00
R8183:Metap1d	UTSW	2	71,337,207 (GRCm39)	missense	possibly damaging	0.66
R8337:Metap1d	UTSW	2	71,345,982 (GRCm39)	missense	probably damaging	1.00
R9228:Metap1d	UTSW	2	71,352,900 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATGGGTCTGGAAGCTCAGAG -3'
(R):5'- ACAAACGTGTGTCTGTTTCTGC -3'

Sequencing Primer
(F):5'- TCTCCTGGTGGAAGCGAG -3'
(R):5'- GTTTCTGCAGCGTGCCAAC -3'

Posted On

2014-10-02