Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01567:Metap1'

91012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Metap1

Ensembl Gene

ENSMUSG00000005813

Gene Name

methionyl aminopeptidase 1

Synonyms

1700029C17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL01567

Quality Score

Status

Chromosome

Chromosomal Location

138164721-138195143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138168150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 325 (T325A)

Ref Sequence

ENSEMBL: ENSMUSP00000029804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029804] [ENSMUST00000198700]

AlphaFold

Q8BP48

Predicted Effect

probably damaging
Transcript: ENSMUST00000029804
AA Change: T325A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029804
Gene: ENSMUSG00000005813
AA Change: T325A

Domain	Start	End	E-Value	Type
Pfam:zf-C6H2	9	54	1.6e-23	PFAM
Pfam:Peptidase_M24	137	365	8.4e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195910

Predicted Effect

probably damaging
Transcript: ENSMUST00000198700
AA Change: T55A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143215
Gene: ENSMUSG00000005813
AA Change: T55A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M24	41	95	1.3e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200365

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,071,628 (GRCm39)	S317G	probably benign	Het
Akna	T	C	4: 63,300,087 (GRCm39)	T652A	probably benign	Het
Anxa9	G	A	3: 95,209,743 (GRCm39)		probably benign	Het
Bpifb4	T	A	2: 153,789,198 (GRCm39)		probably benign	Het
Bptf	A	G	11: 106,949,600 (GRCm39)	S2125P	probably damaging	Het
Capns2	C	A	8: 93,628,634 (GRCm39)	H174Q	probably benign	Het
Cd200	A	C	16: 45,215,054 (GRCm39)	L199R	probably damaging	Het
Clasp2	T	C	9: 113,709,164 (GRCm39)	V651A	probably damaging	Het
Cox18	G	A	5: 90,365,447 (GRCm39)	Q251*	probably null	Het
Depdc1a	T	C	3: 159,232,183 (GRCm39)	S645P	probably damaging	Het
Dio3	T	A	12: 110,245,861 (GRCm39)	C66S	possibly damaging	Het
Dock9	A	T	14: 121,890,496 (GRCm39)	L258Q	probably damaging	Het
Ghrhr	A	G	6: 55,361,108 (GRCm39)	D274G	probably damaging	Het
Gm5129	A	G	5: 29,940,862 (GRCm39)		probably benign	Het
Grb7	A	G	11: 98,345,776 (GRCm39)	N518S	probably damaging	Het
Kdm5b	G	A	1: 134,530,278 (GRCm39)	A430T	probably damaging	Het
Map10	C	A	8: 126,398,232 (GRCm39)	Q542K	probably benign	Het
Ncan	A	T	8: 70,560,984 (GRCm39)	M661K	probably benign	Het
Or2f1b	T	C	6: 42,739,661 (GRCm39)	I225T	probably benign	Het
Or51h5	A	G	7: 102,577,623 (GRCm39)	I263V	probably benign	Het
Otog	T	C	7: 45,926,039 (GRCm39)		probably benign	Het
Pip4k2b	T	C	11: 97,620,387 (GRCm39)	D116G	probably damaging	Het
Rps15	T	A	10: 80,129,643 (GRCm39)	L86Q	probably benign	Het
Sfxn4	G	T	19: 60,842,336 (GRCm39)	T122K	probably damaging	Het
Slc4a3	T	C	1: 75,527,526 (GRCm39)	V165A	probably damaging	Het
Spmip7	A	G	11: 11,465,015 (GRCm39)	H122R	possibly damaging	Het
Synm	A	G	7: 67,384,980 (GRCm39)	V452A	probably damaging	Het
Tdpoz1	T	C	3: 93,578,013 (GRCm39)	H257R	possibly damaging	Het
Tmem26	A	G	10: 68,587,061 (GRCm39)	T170A	probably damaging	Het
Wdfy4	T	G	14: 32,873,618 (GRCm39)	E230D	probably benign	Het

Other mutations in Metap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Metap1	APN	3	138,168,150 (GRCm39)	missense	probably damaging	1.00
IGL02404:Metap1	APN	3	138,195,069 (GRCm39)	missense	probably damaging	1.00
R0042:Metap1	UTSW	3	138,177,918 (GRCm39)	missense	probably benign	0.01
R0042:Metap1	UTSW	3	138,177,918 (GRCm39)	missense	probably benign	0.01
R1217:Metap1	UTSW	3	138,180,791 (GRCm39)	nonsense	probably null
R1652:Metap1	UTSW	3	138,168,151 (GRCm39)	missense	probably damaging	1.00
R1846:Metap1	UTSW	3	138,186,443 (GRCm39)	splice site	probably benign
R4385:Metap1	UTSW	3	138,180,824 (GRCm39)	missense	possibly damaging	0.92
R4868:Metap1	UTSW	3	138,188,850 (GRCm39)	missense	probably damaging	1.00
R6685:Metap1	UTSW	3	138,184,595 (GRCm39)	missense	possibly damaging	0.53
R7339:Metap1	UTSW	3	138,171,898 (GRCm39)	splice site	probably null
R7650:Metap1	UTSW	3	138,172,128 (GRCm39)	missense	probably damaging	1.00
R7990:Metap1	UTSW	3	138,186,526 (GRCm39)	missense	probably benign
R8550:Metap1	UTSW	3	138,172,077 (GRCm39)	missense	possibly damaging	0.90
R8929:Metap1	UTSW	3	138,174,643 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-09