Mutagenetix > Incidental Mutation

Incidental Mutation 'R8183:Metap1d'

634709

Institutional Source

Beutler Lab

Gene Symbol

Metap1d

Ensembl Gene

ENSMUSG00000041921

Gene Name

methionyl aminopeptidase type 1D (mitochondrial)

Synonyms

2310066F24Rik, 3110033D18Rik, Metapl1

MMRRC Submission

067781-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R8183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71283625-71355538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71337207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 40 (F40Y)

Ref Sequence

ENSEMBL: ENSMUSP00000048190 (fasta)

Gene Model

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

AlphaFold

Q9CPW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037210
AA Change: F40Y

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048190
Gene: ENSMUSG00000041921
AA Change: F40Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (51/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	T	A	15: 72,991,337 (GRCm39)	K534*	probably null	Het
Art1	A	T	7: 101,756,633 (GRCm39)	I275F	probably damaging	Het
Atp1a2	T	C	1: 172,116,918 (GRCm39)	N233S	probably damaging	Het
B3gnt2	T	A	11: 22,786,373 (GRCm39)	I272L	probably benign	Het
Bpifa1	A	G	2: 153,988,039 (GRCm39)	Q194R	possibly damaging	Het
Cand2	A	G	6: 115,768,879 (GRCm39)	E563G	probably benign	Het
Clns1a	A	G	7: 97,354,888 (GRCm39)	Y78C	probably damaging	Het
Col20a1	T	C	2: 180,640,207 (GRCm39)	V483A		Het
Col3a1	C	G	1: 45,373,970 (GRCm39)	P621R	unknown	Het
Cst9	G	A	2: 148,678,634 (GRCm39)	R88H	possibly damaging	Het
Cxxc1	T	C	18: 74,353,428 (GRCm39)	Y513H	probably damaging	Het
Dcdc2a	T	C	13: 25,291,633 (GRCm39)	F206S	possibly damaging	Het
Dgkz	C	A	2: 91,769,937 (GRCm39)	G576C	probably damaging	Het
Dpy19l3	A	G	7: 35,394,814 (GRCm39)	F575L	probably damaging	Het
Ftcd	T	A	10: 76,411,541 (GRCm39)	M1K	probably null	Het
Gtf2ird1	T	C	5: 134,386,689 (GRCm39)	D1044G	unknown	Het
Gzmc	A	T	14: 56,470,164 (GRCm39)	M111K	probably damaging	Het
Hpse	T	A	5: 100,832,984 (GRCm39)	Y437F	probably damaging	Het
Ifi203	A	G	1: 173,756,266 (GRCm39)	S506P	unknown	Het
Igsf10	A	T	3: 59,238,036 (GRCm39)	I715K	probably benign	Het
Ints9	T	C	14: 65,273,902 (GRCm39)	V569A	probably damaging	Het
Itih3	A	G	14: 30,631,433 (GRCm39)	F821S	probably benign	Het
Kcnh7	T	C	2: 62,533,321 (GRCm39)	H1186R	probably damaging	Het
Krt33a	A	G	11: 99,905,575 (GRCm39)		probably null	Het
Lonrf1	A	T	8: 36,689,819 (GRCm39)	M718K	possibly damaging	Het
Mefv	C	T	16: 3,526,446 (GRCm39)	R756K	possibly damaging	Het
Myh1	A	T	11: 67,092,832 (GRCm39)	D42V	possibly damaging	Het
Myo15b	T	G	11: 115,773,843 (GRCm39)		probably null	Het
Nsd1	T	C	13: 55,460,186 (GRCm39)	S2241P	probably damaging	Het
Or10q12	T	A	19: 13,746,086 (GRCm39)	Y127N	probably damaging	Het
Osbpl3	C	A	6: 50,280,089 (GRCm39)	R710L	probably benign	Het
Osbpl6	C	T	2: 76,415,404 (GRCm39)	R589C	probably damaging	Het
Pam	T	C	1: 97,762,199 (GRCm39)	T795A	probably benign	Het
Patj	A	C	4: 98,562,466 (GRCm39)	E1534D	probably damaging	Het
Plscr5	A	G	9: 92,080,655 (GRCm39)	Q47R	probably benign	Het
Ppil1	A	T	17: 29,481,053 (GRCm39)		probably null	Het
Sec23b	G	T	2: 144,401,189 (GRCm39)	V17L	probably benign	Het
Serpina3j	C	A	12: 104,284,754 (GRCm39)	Y310*	probably null	Het
Slc6a7	T	C	18: 61,140,448 (GRCm39)	S195G	probably null	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo3	A	T	6: 29,558,758 (GRCm39)	M724K	probably damaging	Het
Trappc11	T	G	8: 47,982,391 (GRCm39)	E116A	possibly damaging	Het
Trpc6	T	C	9: 8,653,150 (GRCm39)	F652S	possibly damaging	Het
Trrap	T	G	5: 144,765,343 (GRCm39)	S2501A	probably benign	Het
Ubr4	T	G	4: 139,209,782 (GRCm39)	S5005A	unknown	Het
Urah	A	T	7: 140,416,707 (GRCm39)	Q60L	probably benign	Het
Vmn2r28	A	T	7: 5,491,147 (GRCm39)	C367S	probably damaging	Het
Zmym1	T	C	4: 126,952,649 (GRCm39)	D44G	probably benign	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
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
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'- ACGAGACTAATGACCTAATGGGC -3'
(R):5'- GCTAAAATAAAATGTCTCCCGTCAC -3'

Sequencing Primer
(F):5'- TAATGGGCAGCAACACCTTCTAGG -3'
(R):5'- AAATGTCTCCCGTCACAATTTG -3'

Posted On

2020-07-13