Mutagenetix > Incidental Mutation

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

Arts1, PILSAP, ERAAP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

74787692-74841324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74812246 bp (GRCm39)

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]

AlphaFold

Q9EQH2

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
Abca8a	C	A	11: 109,943,929 (GRCm39)	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,495,014 (GRCm39)	M286T	probably benign	Het
Anapc1	T	C	2: 128,469,117 (GRCm39)	S1575G	probably damaging	Het
Apba2	A	G	7: 64,345,071 (GRCm39)	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,854,439 (GRCm39)	F1641S	probably benign	Het
Atad2b	T	A	12: 5,074,628 (GRCm39)	H1062Q	probably benign	Het
Bivm	A	G	1: 44,181,005 (GRCm39)	R396G	probably damaging	Het
Bltp1	T	A	3: 37,102,140 (GRCm39)	D4777E	probably benign	Het
Bmi1	T	A	2: 18,686,672 (GRCm39)	M17K	possibly damaging	Het
Bptf	T	C	11: 106,945,454 (GRCm39)	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,674,243 (GRCm39)	E944G	probably damaging	Het
Ces2a	C	T	8: 105,464,075 (GRCm39)	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,568,007 (GRCm39)	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,016,199 (GRCm39)	E91D	probably benign	Het
Dus2	C	A	8: 106,760,423 (GRCm39)		probably benign	Het
Epha6	T	C	16: 59,880,594 (GRCm39)		probably benign	Het
Fbxo11	T	C	17: 88,300,259 (GRCm39)	H851R	probably damaging	Het
Gm20532	G	A	2: 26,522,696 (GRCm39)	C90Y	unknown	Het
Gpr21	T	C	2: 37,408,086 (GRCm39)	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,398,002 (GRCm39)		probably benign	Het
Hephl1	G	A	9: 14,972,255 (GRCm39)	T895I	probably benign	Het
Hey1	T	C	3: 8,729,974 (GRCm39)	Y161C	probably benign	Het
Kdr	A	G	5: 76,121,433 (GRCm39)	Y526H	probably damaging	Het
Lpp	A	G	16: 24,580,737 (GRCm39)	Y151C	probably damaging	Het
Macc1	A	G	12: 119,410,711 (GRCm39)	N493S	probably benign	Het
Or2t45	T	C	11: 58,669,697 (GRCm39)	V248A	probably damaging	Het
Or52s6	C	A	7: 103,091,655 (GRCm39)	R225L	probably benign	Het
Or5m10b	T	A	2: 85,699,494 (GRCm39)	M186K	possibly damaging	Het
Or5t16	T	A	2: 86,819,424 (GRCm39)	Y32F	probably damaging	Het
Or6c1b	A	T	10: 129,272,794 (GRCm39)	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,648,206 (GRCm39)	D445G	probably damaging	Het
Prkra	T	C	2: 76,470,614 (GRCm39)	N123D	probably benign	Het
Slc25a33	A	C	4: 149,846,893 (GRCm39)	L56R	probably damaging	Het
Usp36	A	G	11: 118,155,635 (GRCm39)	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,453,898 (GRCm39)	L188*	probably null	Het
Vmn2r12	A	G	5: 109,239,936 (GRCm39)	V209A	probably benign	Het
Zfp809	A	G	9: 22,154,339 (GRCm39)	Y352C	probably benign	Het

Other mutations in Erap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Erap1	APN	13	74,821,778 (GRCm39)	missense	probably benign	0.17
IGL00661:Erap1	APN	13	74,822,908 (GRCm39)	unclassified	probably benign
IGL00903:Erap1	APN	13	74,821,826 (GRCm39)	missense	probably benign
IGL01095:Erap1	APN	13	74,816,213 (GRCm39)	missense	probably benign	0.04
IGL01536:Erap1	APN	13	74,810,542 (GRCm39)	nonsense	probably null
IGL01646:Erap1	APN	13	74,814,291 (GRCm39)	missense	probably damaging	1.00
IGL01674:Erap1	APN	13	74,812,350 (GRCm39)	unclassified	probably benign
IGL01795:Erap1	APN	13	74,814,209 (GRCm39)	splice site	probably null
IGL01922:Erap1	APN	13	74,810,506 (GRCm39)	missense	probably damaging	1.00
IGL01951:Erap1	APN	13	74,823,414 (GRCm39)	missense	probably damaging	0.99
IGL02106:Erap1	APN	13	74,794,758 (GRCm39)	missense	probably benign
IGL02369:Erap1	APN	13	74,814,645 (GRCm39)	missense	probably benign	0.05
IGL02669:Erap1	APN	13	74,823,987 (GRCm39)	missense	probably benign	0.13
IGL02866:Erap1	APN	13	74,816,118 (GRCm39)	missense	probably damaging	0.96
IGL03093:Erap1	APN	13	74,823,399 (GRCm39)	missense	probably benign	0.10
R0091:Erap1	UTSW	13	74,816,171 (GRCm39)	missense	possibly damaging	0.88
R0456:Erap1	UTSW	13	74,812,339 (GRCm39)	missense	probably benign	0.24
R0556:Erap1	UTSW	13	74,808,444 (GRCm39)	missense	probably damaging	1.00
R0627:Erap1	UTSW	13	74,823,933 (GRCm39)	unclassified	probably benign
R0825:Erap1	UTSW	13	74,822,733 (GRCm39)	unclassified	probably benign
R1123:Erap1	UTSW	13	74,821,762 (GRCm39)	missense	probably benign
R1530:Erap1	UTSW	13	74,794,662 (GRCm39)	missense	probably benign	0.06
R1619:Erap1	UTSW	13	74,819,500 (GRCm39)	missense	probably damaging	1.00
R1731:Erap1	UTSW	13	74,814,241 (GRCm39)	nonsense	probably null
R1944:Erap1	UTSW	13	74,794,758 (GRCm39)	missense	probably benign
R2016:Erap1	UTSW	13	74,812,270 (GRCm39)	missense	probably damaging	1.00
R2022:Erap1	UTSW	13	74,814,627 (GRCm39)	missense	probably benign	0.08
R2023:Erap1	UTSW	13	74,814,627 (GRCm39)	missense	probably benign	0.08
R2045:Erap1	UTSW	13	74,817,569 (GRCm39)	missense	probably benign	0.01
R2081:Erap1	UTSW	13	74,823,426 (GRCm39)	missense	possibly damaging	0.67
R2187:Erap1	UTSW	13	74,810,524 (GRCm39)	missense	probably damaging	0.98
R2198:Erap1	UTSW	13	74,794,806 (GRCm39)	missense	probably damaging	0.97
R3938:Erap1	UTSW	13	74,816,147 (GRCm39)	missense	probably damaging	1.00
R4052:Erap1	UTSW	13	74,823,459 (GRCm39)	missense	probably benign	0.13
R4062:Erap1	UTSW	13	74,811,655 (GRCm39)	missense	probably benign	0.02
R4128:Erap1	UTSW	13	74,814,315 (GRCm39)	missense	probably damaging	1.00
R4247:Erap1	UTSW	13	74,823,414 (GRCm39)	missense	probably damaging	0.99
R4562:Erap1	UTSW	13	74,821,778 (GRCm39)	missense	probably benign	0.21
R4691:Erap1	UTSW	13	74,821,811 (GRCm39)	missense	probably damaging	0.99
R4831:Erap1	UTSW	13	74,838,766 (GRCm39)	missense	probably damaging	1.00
R4916:Erap1	UTSW	13	74,794,647 (GRCm39)	missense	probably benign
R4983:Erap1	UTSW	13	74,838,829 (GRCm39)	missense	probably benign	0.01
R5213:Erap1	UTSW	13	74,819,614 (GRCm39)	splice site	probably null
R5229:Erap1	UTSW	13	74,808,494 (GRCm39)	missense	possibly damaging	0.94
R5367:Erap1	UTSW	13	74,794,680 (GRCm39)	missense	probably damaging	0.99
R5463:Erap1	UTSW	13	74,794,533 (GRCm39)	missense	probably damaging	1.00
R5566:Erap1	UTSW	13	74,810,531 (GRCm39)	missense	probably damaging	1.00
R5972:Erap1	UTSW	13	74,810,423 (GRCm39)	splice site	probably null
R6112:Erap1	UTSW	13	74,794,398 (GRCm39)	missense	probably benign	0.44
R6132:Erap1	UTSW	13	74,808,401 (GRCm39)	missense	probably benign	0.00
R6180:Erap1	UTSW	13	74,814,345 (GRCm39)	missense	possibly damaging	0.55
R6314:Erap1	UTSW	13	74,822,894 (GRCm39)	missense	probably damaging	0.99
R6479:Erap1	UTSW	13	74,811,612 (GRCm39)	splice site	probably null
R6919:Erap1	UTSW	13	74,819,552 (GRCm39)	missense	probably benign	0.20
R7199:Erap1	UTSW	13	74,814,258 (GRCm39)	missense	probably benign	0.10
R7283:Erap1	UTSW	13	74,821,903 (GRCm39)	splice site	probably null
R7543:Erap1	UTSW	13	74,822,753 (GRCm39)	missense	probably damaging	1.00
R8174:Erap1	UTSW	13	74,794,683 (GRCm39)	missense	probably benign	0.09
R8217:Erap1	UTSW	13	74,820,937 (GRCm39)	missense	probably benign	0.33
R8320:Erap1	UTSW	13	74,814,668 (GRCm39)	missense	probably benign	0.02
R8799:Erap1	UTSW	13	74,805,755 (GRCm39)	missense	probably benign	0.02
R9041:Erap1	UTSW	13	74,822,818 (GRCm39)	missense	probably benign	0.02
R9232:Erap1	UTSW	13	74,811,637 (GRCm39)	missense	probably benign	0.36
R9244:Erap1	UTSW	13	74,821,903 (GRCm39)	splice site	probably null
X0067:Erap1	UTSW	13	74,808,491 (GRCm39)	missense	probably damaging	1.00
Z1176:Erap1	UTSW	13	74,805,757 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02