Mutagenetix > Incidental Mutation

Incidental Mutation 'R4614:Metap1d'

344912

Institutional Source

Beutler Lab

Gene Symbol

Metap1d

Ensembl Gene

ENSMUSG00000041921

Gene Name

methionyl aminopeptidase type 1D (mitochondrial)

Synonyms

2310066F24Rik, 3110033D18Rik, Metapl1

MMRRC Submission

041825-MU

Accession Numbers

Essential gene?

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

Stock #

R4614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71283625-71355538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71355292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 332 (P332L)

Ref Sequence

ENSEMBL: ENSMUSP00000048190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037119] [ENSMUST00000037210] [ENSMUST00000126400] [ENSMUST00000145444] [ENSMUST00000152711]

AlphaFold

Q9CPW9

Predicted Effect

probably benign
Transcript: ENSMUST00000037119

SMART Domains

Protein: ENSMUSP00000042413
Gene: ENSMUSG00000041911

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
HOX	128	190	2.05e-23	SMART
low complexity region	208	232	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037210
AA Change: P332L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000048190
Gene: ENSMUSG00000041921
AA Change: P332L

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

probably benign
Transcript: ENSMUST00000126400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145088

Predicted Effect

probably benign
Transcript: ENSMUST00000145444

SMART Domains

Protein: ENSMUSP00000134713
Gene: ENSMUSG00000041911

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152711

SMART Domains

Protein: ENSMUSP00000133288
Gene: ENSMUSG00000041911

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC

Meta Mutation Damage Score

0.1289

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (95/97)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	G	13: 77,402,375 (GRCm39)		probably null	Het
4932414N04Rik	C	A	2: 68,575,804 (GRCm39)	T701K	probably benign	Het
Abcb11	A	T	2: 69,115,025 (GRCm39)	H640Q	possibly damaging	Het
Ago2	C	T	15: 73,002,816 (GRCm39)	V139M	probably damaging	Het
Apol11a	A	T	15: 77,400,772 (GRCm39)	K86N	probably benign	Het
Ass1	T	C	2: 31,404,795 (GRCm39)	Y359H	probably damaging	Het
Bpifa3	A	T	2: 153,978,200 (GRCm39)	N34I	probably damaging	Het
Brwd1	A	T	16: 95,848,559 (GRCm39)	L540H	probably damaging	Het
C3ar1	G	A	6: 122,827,680 (GRCm39)	S179F	probably benign	Het
Ccnb1ip1	T	C	14: 51,029,652 (GRCm39)	T137A	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cdk12	T	A	11: 98,140,603 (GRCm39)		probably benign	Het
Cep290	T	C	10: 100,344,602 (GRCm39)	M480T	probably benign	Het
Cep290	G	A	10: 100,395,549 (GRCm39)	R2112K	possibly damaging	Het
Chn2	G	A	6: 54,267,388 (GRCm39)	M292I	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 24,991,095 (GRCm39)		probably null	Het
Cpeb1	A	T	7: 81,086,018 (GRCm39)	D41E	possibly damaging	Het
Csf2rb2	C	G	15: 78,175,902 (GRCm39)	C184S	probably damaging	Het
Ctsc	G	A	7: 87,927,583 (GRCm39)		probably null	Het
Cyp2c40	G	A	19: 39,792,300 (GRCm39)	S191L	probably damaging	Het
Dagla	T	C	19: 10,225,641 (GRCm39)	E841G	probably damaging	Het
Dld	A	T	12: 31,383,944 (GRCm39)	Y386*	probably null	Het
Dpp8	G	A	9: 64,973,678 (GRCm39)	S634N	probably benign	Het
Duox2	A	T	2: 122,120,038 (GRCm39)	V824E	probably damaging	Het
Dync2h1	A	C	9: 7,011,290 (GRCm39)	S3634R	probably benign	Het
Eef1d	T	C	15: 75,775,425 (GRCm39)	N78S	probably benign	Het
Fcrl5	T	A	3: 87,355,733 (GRCm39)	I482N	probably damaging	Het
Fezf1	A	T	6: 23,247,857 (GRCm39)	C73S	possibly damaging	Het
Fgfr1	A	G	8: 26,047,813 (GRCm39)	D53G	probably benign	Het
Fmn1	T	C	2: 113,195,494 (GRCm39)	L398S	unknown	Het
Gm17175	T	C	14: 51,809,042 (GRCm39)	Q108R	probably benign	Het
Gm28042	G	A	2: 119,871,639 (GRCm39)	G669D	probably damaging	Het
Gm6185	A	G	1: 161,050,669 (GRCm39)		noncoding transcript	Het
Gucy2g	A	T	19: 55,190,579 (GRCm39)	C1018*	probably null	Het
H2-Q10	A	T	17: 35,784,917 (GRCm39)		probably benign	Het
H2-T22	T	G	17: 36,351,429 (GRCm39)	Q267P	probably benign	Het
Hibadh	A	G	6: 52,523,915 (GRCm39)	Y328H	possibly damaging	Het
Hsd3b3	T	A	3: 98,649,396 (GRCm39)	Y309F	probably benign	Het
Ighv1-37	C	T	12: 114,859,863 (GRCm39)	A116T	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Igkv8-21	A	T	6: 70,292,141 (GRCm39)	S34T	probably benign	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Iqch	A	G	9: 63,389,863 (GRCm39)	M733T	probably benign	Het
Jakmip2	T	A	18: 43,695,657 (GRCm39)	D539V	probably damaging	Het
Lgi2	A	G	5: 52,695,775 (GRCm39)	S395P	probably damaging	Het
Lrrc40	A	T	3: 157,760,271 (GRCm39)	N344I	probably damaging	Het
Ltbp1	G	A	17: 75,596,989 (GRCm39)		probably benign	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mis18bp1	T	A	12: 65,200,303 (GRCm39)		probably benign	Het
Mta2	T	C	19: 8,925,492 (GRCm39)		probably null	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Muc4	A	G	16: 32,577,432 (GRCm39)	K241E	probably benign	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Nfs1	A	G	2: 155,985,970 (GRCm39)	S31P	probably benign	Het
Or10g6	T	A	9: 39,934,255 (GRCm39)	C189S	probably damaging	Het
Or10z1	A	G	1: 174,078,188 (GRCm39)	F102L	possibly damaging	Het
Or2f1b	G	T	6: 42,739,352 (GRCm39)	R122L	probably benign	Het
Otogl	A	T	10: 107,727,985 (GRCm39)	C245*	probably null	Het
Pcdhb16	G	A	18: 37,613,398 (GRCm39)	G786D	probably benign	Het
Pdcd5	C	T	7: 35,346,472 (GRCm39)		probably benign	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Piezo1	A	T	8: 123,213,150 (GRCm39)	I1871N	probably benign	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Plxnd1	T	C	6: 115,949,486 (GRCm39)	T767A	possibly damaging	Het
Polr3c	T	G	3: 96,623,787 (GRCm39)	I322L	probably benign	Het
Ppp1r26	C	A	2: 28,340,860 (GRCm39)	H163Q	probably benign	Het
Prox1	T	G	1: 189,894,205 (GRCm39)	Y80S	probably damaging	Het
Pygl	T	C	12: 70,257,753 (GRCm39)		probably null	Het
Rab23	T	C	1: 33,778,466 (GRCm39)	V236A	probably benign	Het
Setd2	T	C	9: 110,398,881 (GRCm39)		probably null	Het
Slc5a7	A	G	17: 54,583,587 (GRCm39)	S568P	probably benign	Het
Smpd3	A	G	8: 106,986,371 (GRCm39)	L477P	probably damaging	Het
Spg21	A	G	9: 65,387,671 (GRCm39)		probably null	Het
Spta1	A	T	1: 174,020,543 (GRCm39)	I551F	probably damaging	Het
Supt5	A	T	7: 28,025,397 (GRCm39)	I135N	possibly damaging	Het
Tacstd2	A	G	6: 67,512,170 (GRCm39)	F174S	probably damaging	Het
Tas1r2	A	T	4: 139,387,098 (GRCm39)	T186S	probably damaging	Het
Tie1	A	G	4: 118,336,248 (GRCm39)	Y673H	probably damaging	Het
Tom1l1	A	T	11: 90,561,952 (GRCm39)	N190K	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tox4	C	T	14: 52,524,924 (GRCm39)	T249I	probably damaging	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Vmn2r13	A	T	5: 109,323,065 (GRCm39)	F75I	probably benign	Het
Washc2	T	A	6: 116,215,135 (GRCm39)	S502T	possibly damaging	Het
Wnk4	A	T	11: 101,164,937 (GRCm39)	E755D	probably benign	Het
Zfp207	T	A	11: 80,286,016 (GRCm39)		probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	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
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'- ATCATCACTGAAGGTTCCCCAG -3'
(R):5'- CTTGGGCGGAATATGGACAG -3'

Sequencing Primer
(F):5'- CCCCAGAATTTAAAGTCCTTGAGG -3'
(R):5'- AAGGGCGAACCACCTGC -3'

Posted On

2015-09-25