Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03265:Erap1'

415034

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Erap1

Ensembl Gene

ENSMUSG00000021583

Gene Name

endoplasmic reticulum aminopeptidase 1

Synonyms

ERAAP, Arts1, PILSAP

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

74639568-74693201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74664127 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 354 (T354S)

Ref Sequence

ENSEMBL: ENSMUSP00000133166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169114] [ENSMUST00000221822] [ENSMUST00000222127]

Predicted Effect

probably damaging
Transcript: ENSMUST00000169114
AA Change: T354S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: T354S

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	42	430	2.7e-135	PFAM
low complexity region	488	501	N/A	INTRINSIC
Pfam:ERAP1_C	586	904	1.7e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221606

Predicted Effect

probably benign
Transcript: ENSMUST00000221822

Predicted Effect

probably benign
Transcript: ENSMUST00000222127

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a targeted mutation may exhibit extramedullary hematopoiesis of the spleen, thymus hyperplasia, or enlarged kidneys at older ages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,047,991	D4777E	probably benign	Het
Abca8a	C	A	11: 110,053,103	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,637,817	M286T	probably benign	Het
Anapc1	T	C	2: 128,627,197	S1575G	probably damaging	Het
Apba2	A	G	7: 64,695,323	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,849,628	F1641S	probably benign	Het
Atad2b	T	A	12: 5,024,628	H1062Q	probably benign	Het
Bivm	A	G	1: 44,141,845	R396G	probably damaging	Het
Bmi1	T	A	2: 18,681,861	M17K	possibly damaging	Het
Bptf	T	C	11: 107,054,628	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,952,286	E944G	probably damaging	Het
Ces2a	C	T	8: 104,737,443	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,528,848	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,185,718	E91D	probably benign	Het
Dus2	C	A	8: 106,033,791		probably benign	Het
Epha6	T	C	16: 60,060,231		probably benign	Het
Fbxo11	T	C	17: 87,992,831	H851R	probably damaging	Het
Gm20532	G	A	2: 26,632,684	C90Y	unknown	Het
Gpr21	T	C	2: 37,518,074	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,259,939		probably benign	Het
Hephl1	G	A	9: 15,060,959	T895I	probably benign	Het
Hey1	T	C	3: 8,664,914	Y161C	probably benign	Het
Kdr	A	G	5: 75,960,773	Y526H	probably damaging	Het
Lpp	A	G	16: 24,761,987	Y151C	probably damaging	Het
Macc1	A	G	12: 119,446,976	N493S	probably benign	Het
Olfr1022	T	A	2: 85,869,150	M186K	possibly damaging	Het
Olfr1101	T	A	2: 86,989,080	Y32F	probably damaging	Het
Olfr315	T	C	11: 58,778,871	V248A	probably damaging	Het
Olfr605	C	A	7: 103,442,448	R225L	probably benign	Het
Olfr786	A	T	10: 129,436,925	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,515,153	D445G	probably damaging	Het
Prkra	T	C	2: 76,640,270	N123D	probably benign	Het
Slc25a33	A	C	4: 149,762,436	L56R	probably damaging	Het
Usp36	A	G	11: 118,264,809	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,754,473	L188*	probably null	Het
Vmn2r12	A	G	5: 109,092,070	V209A	probably benign	Het
Zfp809	A	G	9: 22,243,043	Y352C	probably benign	Het

Other mutations in Erap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Erap1	APN	13	74673659	missense	probably benign	0.17
IGL00661:Erap1	APN	13	74674789	unclassified	probably benign
IGL00903:Erap1	APN	13	74673707	missense	probably benign
IGL01095:Erap1	APN	13	74668094	missense	probably benign	0.04
IGL01536:Erap1	APN	13	74662423	nonsense	probably null
IGL01646:Erap1	APN	13	74666172	missense	probably damaging	1.00
IGL01674:Erap1	APN	13	74664231	unclassified	probably benign
IGL01795:Erap1	APN	13	74666090	splice site	probably null
IGL01922:Erap1	APN	13	74662387	missense	probably damaging	1.00
IGL01951:Erap1	APN	13	74675295	missense	probably damaging	0.99
IGL02106:Erap1	APN	13	74646639	missense	probably benign
IGL02369:Erap1	APN	13	74666526	missense	probably benign	0.05
IGL02669:Erap1	APN	13	74675868	missense	probably benign	0.13
IGL02866:Erap1	APN	13	74667999	missense	probably damaging	0.96
IGL03093:Erap1	APN	13	74675280	missense	probably benign	0.10
R0091:Erap1	UTSW	13	74668052	missense	possibly damaging	0.88
R0456:Erap1	UTSW	13	74664220	missense	probably benign	0.24
R0556:Erap1	UTSW	13	74660325	missense	probably damaging	1.00
R0627:Erap1	UTSW	13	74675814	unclassified	probably benign
R0825:Erap1	UTSW	13	74674614	unclassified	probably benign
R1123:Erap1	UTSW	13	74673643	missense	probably benign
R1530:Erap1	UTSW	13	74646543	missense	probably benign	0.06
R1619:Erap1	UTSW	13	74671381	missense	probably damaging	1.00
R1731:Erap1	UTSW	13	74666122	nonsense	probably null
R1944:Erap1	UTSW	13	74646639	missense	probably benign
R2016:Erap1	UTSW	13	74664151	missense	probably damaging	1.00
R2022:Erap1	UTSW	13	74666508	missense	probably benign	0.08
R2023:Erap1	UTSW	13	74666508	missense	probably benign	0.08
R2045:Erap1	UTSW	13	74669450	missense	probably benign	0.01
R2081:Erap1	UTSW	13	74675307	missense	possibly damaging	0.67
R2187:Erap1	UTSW	13	74662405	missense	probably damaging	0.98
R2198:Erap1	UTSW	13	74646687	missense	probably damaging	0.97
R3938:Erap1	UTSW	13	74668028	missense	probably damaging	1.00
R4052:Erap1	UTSW	13	74675340	missense	probably benign	0.13
R4062:Erap1	UTSW	13	74663536	missense	probably benign	0.02
R4128:Erap1	UTSW	13	74666196	missense	probably damaging	1.00
R4247:Erap1	UTSW	13	74675295	missense	probably damaging	0.99
R4562:Erap1	UTSW	13	74673659	missense	probably benign	0.21
R4691:Erap1	UTSW	13	74673692	missense	probably damaging	0.99
R4831:Erap1	UTSW	13	74690647	missense	probably damaging	1.00
R4916:Erap1	UTSW	13	74646528	missense	probably benign
R4983:Erap1	UTSW	13	74690710	missense	probably benign	0.01
R5213:Erap1	UTSW	13	74671495	splice site	probably null
R5229:Erap1	UTSW	13	74660375	missense	possibly damaging	0.94
R5367:Erap1	UTSW	13	74646561	missense	probably damaging	0.99
R5463:Erap1	UTSW	13	74646414	missense	probably damaging	1.00
R5566:Erap1	UTSW	13	74662412	missense	probably damaging	1.00
R5972:Erap1	UTSW	13	74662304	splice site	probably null
R6112:Erap1	UTSW	13	74646279	missense	probably benign	0.44
R6132:Erap1	UTSW	13	74660282	missense	probably benign	0.00
R6180:Erap1	UTSW	13	74666226	missense	possibly damaging	0.55
R6314:Erap1	UTSW	13	74674775	missense	probably damaging	0.99
R6479:Erap1	UTSW	13	74663493	splice site	probably null
R6919:Erap1	UTSW	13	74671433	missense	probably benign	0.20
R7199:Erap1	UTSW	13	74666139	missense	probably benign	0.10
R7283:Erap1	UTSW	13	74673784	splice site	probably null
R7543:Erap1	UTSW	13	74674634	missense	probably damaging	1.00
R8174:Erap1	UTSW	13	74646564	missense	probably benign	0.09
R8217:Erap1	UTSW	13	74672818	missense	probably benign	0.33
R8320:Erap1	UTSW	13	74666549	missense	probably benign	0.02
X0067:Erap1	UTSW	13	74660372	missense	probably damaging	1.00
Z1176:Erap1	UTSW	13	74657638	missense	probably damaging	1.00

Posted On

2016-08-02