Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02002:Metap1'

183096

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 #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

138164721-138195143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138168150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 325 (T325S)

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: T325S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029804
Gene: ENSMUSG00000005813
AA Change: T325S

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: T55S

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

SMART Domains

Protein: ENSMUSP00000143215
Gene: ENSMUSG00000005813
AA Change: T55S

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	T	17: 84,989,479 (GRCm39)	Y76*	probably null	Het
Acadsb	T	A	7: 131,030,258 (GRCm39)	V135E	probably damaging	Het
Acap1	A	G	11: 69,775,286 (GRCm39)	Y326H	probably damaging	Het
Actl11	T	A	9: 107,806,529 (GRCm39)	V284D	probably benign	Het
Adcy10	G	T	1: 165,349,412 (GRCm39)	D428Y	probably damaging	Het
Akap8	A	G	17: 32,528,470 (GRCm39)	C481R	probably damaging	Het
Amotl2	G	A	9: 102,602,316 (GRCm39)	A26T	probably damaging	Het
Apob	T	C	12: 8,044,822 (GRCm39)	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391 (GRCm39)	N148K	probably damaging	Het
Ccdc149	G	A	5: 52,563,421 (GRCm39)	T124M	probably damaging	Het
Cd320	A	G	17: 34,062,214 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,638,194 (GRCm39)	T23A	probably benign	Het
Col22a1	A	G	15: 71,682,946 (GRCm39)		probably benign	Het
Col24a1	T	A	3: 145,062,699 (GRCm39)	F675I	possibly damaging	Het
Col6a3	A	G	1: 90,709,858 (GRCm39)		probably benign	Het
Dap3	A	T	3: 88,843,535 (GRCm39)	M19K	probably benign	Het
Dsg2	A	G	18: 20,712,233 (GRCm39)	D123G	probably damaging	Het
Dysf	T	A	6: 84,187,769 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,119,885 (GRCm39)	S853P	probably damaging	Het
Fbn2	A	G	18: 58,247,625 (GRCm39)	M423T	probably benign	Het
Fcgbpl1	A	T	7: 27,852,221 (GRCm39)	Y1248F	probably damaging	Het
Fgfr1	T	C	8: 26,045,727 (GRCm39)	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,244,661 (GRCm39)	A203T	probably damaging	Het
Gon4l	C	T	3: 88,802,643 (GRCm39)	P1085S	possibly damaging	Het
Gsdma2	T	C	11: 98,541,800 (GRCm39)	F176L	probably damaging	Het
Haghl	A	G	17: 26,003,239 (GRCm39)	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,491,049 (GRCm39)	P4167S	probably damaging	Het
Hscb	T	C	5: 110,978,820 (GRCm39)	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,802,666 (GRCm39)	N428Y	probably damaging	Het
Mc2r	T	A	18: 68,540,505 (GRCm39)	M263L	probably benign	Het
Mff	A	G	1: 82,719,696 (GRCm39)	R225G	probably damaging	Het
Naprt	A	T	15: 75,763,221 (GRCm39)	L474Q	probably damaging	Het
Nin	A	T	12: 70,109,473 (GRCm39)	Y155*	probably null	Het
Nrg3	A	T	14: 38,092,724 (GRCm39)	C612*	probably null	Het
Or2aj5	T	C	16: 19,425,300 (GRCm39)	I39M	possibly damaging	Het
Or5p52	A	T	7: 107,502,497 (GRCm39)	D191V	possibly damaging	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Pdilt	A	T	7: 119,099,667 (GRCm39)	F200L	probably damaging	Het
Ppard	T	G	17: 28,517,877 (GRCm39)	F315C	probably damaging	Het
Ror1	T	A	4: 100,298,381 (GRCm39)	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,211,460 (GRCm39)	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,097,922 (GRCm39)	K442R	probably benign	Het
Tln2	A	G	9: 67,263,980 (GRCm39)	I553T	probably damaging	Het
Tmem269	T	A	4: 119,071,338 (GRCm39)	I26F	probably benign	Het
Tsen2	T	C	6: 115,536,568 (GRCm39)	V108A	probably benign	Het
Ttyh3	A	T	5: 140,615,238 (GRCm39)	D383E	probably damaging	Het
Tut7	A	G	13: 59,929,910 (GRCm39)	S1042P	possibly damaging	Het
Usp13	T	C	3: 32,901,974 (GRCm39)	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,899,619 (GRCm39)	S762R	probably damaging	Het
Washc4	A	G	10: 83,415,407 (GRCm39)	N799S	possibly damaging	Het
Zdhhc17	C	T	10: 110,803,550 (GRCm39)	V256I	probably benign	Het
Zfp51	T	A	17: 21,684,221 (GRCm39)	F279I	probably damaging	Het
Zzz3	A	G	3: 152,157,006 (GRCm39)	T223A	probably damaging	Het

Other mutations in Metap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567: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

2014-05-07