Mutagenetix > Incidental Mutation

Incidental Mutation 'R0294:Metap1d'

26265

Institutional Source

Beutler Lab

Gene Symbol

Metap1d

Ensembl Gene

ENSMUSG00000041921

Gene Name

methionyl aminopeptidase type 1D (mitochondrial)

Synonyms

2310066F24Rik, 3110033D18Rik, Metapl1

MMRRC Submission

038511-MU

Accession Numbers

Essential gene?

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

Stock #

R0294 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71283625-71355538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71352889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 239 (H239Q)

Ref Sequence

ENSEMBL: ENSMUSP00000048190 (fasta)

Gene Model

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

AlphaFold

Q9CPW9

Predicted Effect

probably benign
Transcript: ENSMUST00000037210
AA Change: H239Q

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

SMART Domains

Protein: ENSMUSP00000048190
Gene: ENSMUSG00000041921
AA Change: H239Q

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: ENSMUST00000122990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140271

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
Aadat	A	G	8: 60,987,642 (GRCm39)	E319G	possibly damaging	Het
Abca13	A	G	11: 9,219,122 (GRCm39)		probably null	Het
Actl7b	A	T	4: 56,740,848 (GRCm39)	L170Q	possibly damaging	Het
Adam29	C	A	8: 56,326,311 (GRCm39)	V48L	probably benign	Het
Aknad1	A	G	3: 108,682,508 (GRCm39)	Y528C	probably damaging	Het
Alas1	T	A	9: 106,118,455 (GRCm39)	K222N	probably damaging	Het
Aplf	A	G	6: 87,623,227 (GRCm39)	V284A	probably benign	Het
Atp11a	G	A	8: 12,877,524 (GRCm39)	V317M	probably benign	Het
Bub3	A	G	7: 131,169,953 (GRCm39)	E206G	possibly damaging	Het
Cblb	T	G	16: 51,956,187 (GRCm39)	F263L	probably damaging	Het
Ces2h	T	A	8: 105,743,236 (GRCm39)	M157K	probably benign	Het
Cfh	A	G	1: 140,110,999 (GRCm39)	F6L	probably benign	Het
Chst1	G	T	2: 92,443,987 (GRCm39)	R153L	probably damaging	Het
Cimap2	T	C	4: 106,470,361 (GRCm39)	D232G	probably damaging	Het
Cntnap5a	T	A	1: 115,843,046 (GRCm39)	N121K	probably benign	Het
Crybg1	A	T	10: 43,862,372 (GRCm39)	S1467R	probably damaging	Het
Cyp2d22	A	G	15: 82,258,646 (GRCm39)	F72L	possibly damaging	Het
Dmrt2	C	T	19: 25,655,435 (GRCm39)	P345S	probably damaging	Het
Dock8	T	C	19: 25,165,714 (GRCm39)	I1866T	probably damaging	Het
Egfem1	A	G	3: 29,744,270 (GRCm39)	N503S	probably damaging	Het
Ehbp1	T	C	11: 22,045,427 (GRCm39)	D774G	probably benign	Het
Foxp2	C	A	6: 15,376,773 (GRCm39)		probably benign	Het
Gins3	T	C	8: 96,364,547 (GRCm39)	V99A	possibly damaging	Het
Grm1	A	T	10: 10,956,143 (GRCm39)	I47N	probably damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Hsdl2	T	A	4: 59,601,408 (GRCm39)	S127T	probably benign	Het
Il5ra	A	T	6: 106,689,362 (GRCm39)	M410K	probably benign	Het
Ints7	A	G	1: 191,344,003 (GRCm39)	S548G	possibly damaging	Het
Kcnt1	A	G	2: 25,778,122 (GRCm39)	E80G	probably damaging	Het
Lgr6	A	G	1: 134,915,629 (GRCm39)	V373A	probably damaging	Het
Lgr6	T	A	1: 135,032,799 (GRCm39)	Q27L	unknown	Het
Map3k14	T	C	11: 103,117,963 (GRCm39)	I610V	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mgst2	A	G	3: 51,589,251 (GRCm39)	Y88C	probably damaging	Het
Mroh4	T	C	15: 74,477,998 (GRCm39)	N903D	probably benign	Het
Nbeal2	T	G	9: 110,461,927 (GRCm39)	D1476A	probably damaging	Het
Nlgn1	C	A	3: 26,187,625 (GRCm39)	A87S	probably benign	Het
Nln	C	T	13: 104,189,087 (GRCm39)	G295S	probably damaging	Het
Nnt	T	A	13: 119,472,803 (GRCm39)	Y719F	probably benign	Het
Nnt	T	G	13: 119,474,953 (GRCm39)	I659L	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51b17	A	T	7: 103,542,137 (GRCm39)	H268Q	probably benign	Het
Or52s6	G	A	7: 103,092,291 (GRCm39)	T13I	possibly damaging	Het
Or5p78	A	T	7: 108,212,357 (GRCm39)	Y281F	probably damaging	Het
Or9g4	A	G	2: 85,505,060 (GRCm39)	V145A	probably damaging	Het
Otogl	C	T	10: 107,613,089 (GRCm39)	C2041Y	probably damaging	Het
Patj	G	T	4: 98,385,285 (GRCm39)	D300Y	probably damaging	Het
Pkhd1l1	A	T	15: 44,423,831 (GRCm39)	E3124D	probably benign	Het
Plbd2	A	G	5: 120,625,514 (GRCm39)		probably null	Het
Pphln1	T	C	15: 93,318,171 (GRCm39)	Y57H	probably damaging	Het
Ppp1r16b	C	T	2: 158,588,523 (GRCm39)	T78M	probably damaging	Het
Prss40	T	G	1: 34,595,162 (GRCm39)	D224A	possibly damaging	Het
Senp6	A	G	9: 80,021,007 (GRCm39)		probably null	Het
Shank3	A	G	15: 89,416,301 (GRCm39)	E666G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc22a18	G	A	7: 143,046,578 (GRCm39)		probably null	Het
Slc5a4b	A	G	10: 75,917,161 (GRCm39)	C292R	probably damaging	Het
Spata31e5	T	C	1: 28,817,744 (GRCm39)	Q96R	probably benign	Het
Sphkap	T	A	1: 83,255,966 (GRCm39)	E594D	possibly damaging	Het
Srpra	T	A	9: 35,126,811 (GRCm39)	M61K	probably damaging	Het
Trmt10c	A	T	16: 55,855,240 (GRCm39)	Y132N	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
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
R2179:Metap1d	UTSW	2	71,283,715 (GRCm39)	missense	probably benign
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'- GGACTGCTAACAAGCATAGCCGAC -3'
(R):5'- ACCTCATTTGGGAAATGTGCTGAGC -3'

Sequencing Primer
(F):5'- GCATAGCCGACTCTGAAATTATTCC -3'
(R):5'- GCTGAGCTGTAATTCAACAGCAC -3'

Posted On

2013-04-16