Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01095:Erap1'

52560

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 #

IGL01095

Quality Score

Status

Chromosome

Chromosomal Location

74787692-74841324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74816213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 114 (E114G)

Ref Sequence

ENSEMBL: ENSMUSP00000152076 (fasta)

Gene Model

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

AlphaFold

Q9EQH2

Predicted Effect

probably benign
Transcript: ENSMUST00000169114
AA Change: E543G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: E543G

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: ENSMUST00000222127
AA Change: E114G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

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
Adam34l	T	A	8: 44,079,133 (GRCm39)	I364L	probably benign	Het
Adgra1	A	G	7: 139,425,570 (GRCm39)	T28A	possibly damaging	Het
Aldh8a1	A	G	10: 21,265,180 (GRCm39)	E269G	probably benign	Het
Alkbh7	A	G	17: 57,304,470 (GRCm39)		probably null	Het
Ap1g2	T	C	14: 55,342,571 (GRCm39)	T129A	probably benign	Het
Ap1s1	A	G	5: 137,070,663 (GRCm39)	I117T	probably damaging	Het
Brca1	G	A	11: 101,415,195 (GRCm39)	P119S	possibly damaging	Het
Chid1	A	G	7: 141,110,142 (GRCm39)	V62A	probably damaging	Het
Cpa1	A	T	6: 30,642,968 (GRCm39)	I299F	probably benign	Het
Cuzd1	A	G	7: 130,917,865 (GRCm39)	V245A	probably damaging	Het
Ddx39b	T	C	17: 35,465,937 (GRCm39)	S71P	probably benign	Het
Ddx42	A	G	11: 106,138,325 (GRCm39)	Y708C	probably damaging	Het
Dnah3	C	A	7: 119,550,820 (GRCm39)	L3166F	probably benign	Het
Fap	G	A	2: 62,354,545 (GRCm39)	T448I	possibly damaging	Het
Fhl2	A	T	1: 43,170,841 (GRCm39)	Y158N	probably benign	Het
Fscb	A	G	12: 64,520,155 (GRCm39)	V437A	possibly damaging	Het
Il18	A	T	9: 50,490,629 (GRCm39)	D88V	probably damaging	Het
Il5ra	A	T	6: 106,719,605 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,546 (GRCm39)	Q302L	probably damaging	Het
Lrp2	A	T	2: 69,322,776 (GRCm39)	Y1857*	probably null	Het
Meis2	T	C	2: 115,694,905 (GRCm39)	T406A	probably benign	Het
Mre11a	T	A	9: 14,721,120 (GRCm39)	S346R	probably benign	Het
Myh15	A	T	16: 48,952,378 (GRCm39)	K816M	probably damaging	Het
Mysm1	C	T	4: 94,856,106 (GRCm39)		probably null	Het
Nyap1	C	A	5: 137,736,346 (GRCm39)	R47L	probably damaging	Het
Oas3	A	G	5: 120,910,954 (GRCm39)	Y209H	probably damaging	Het
Or2v2	T	G	11: 49,003,680 (GRCm39)	Y291S	probably damaging	Het
Or4g16	A	G	2: 111,136,966 (GRCm39)	R139G	probably benign	Het
Or6c209	A	G	10: 129,483,498 (GRCm39)	D167G	probably benign	Het
Or8b42	A	G	9: 38,341,811 (GRCm39)	I78V	probably benign	Het
Or8d6	T	C	9: 39,853,976 (GRCm39)	V140A	probably benign	Het
Pde4b	T	C	4: 102,363,241 (GRCm39)		probably null	Het
Psd3	G	A	8: 68,361,165 (GRCm39)	T99M	probably damaging	Het
R3hcc1	T	C	14: 69,937,477 (GRCm39)	E390G	probably damaging	Het
Rabgap1l	A	C	1: 160,566,539 (GRCm39)	C58W	probably benign	Het
Rasd1	A	G	11: 59,855,117 (GRCm39)	I121T	probably damaging	Het
Spta1	A	G	1: 174,041,051 (GRCm39)	N1284D	probably benign	Het
Tpr	T	C	1: 150,285,891 (GRCm39)	V525A	possibly damaging	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
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
IGL03265:Erap1	APN	13	74,812,246 (GRCm39)	missense	probably damaging	1.00
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

2013-06-21