Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03093:Erap1'

418460

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: 0.120) question?

Stock #

IGL03093

Quality Score

Status

Chromosome

Chromosomal Location

74787692-74841324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74823399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 811 (F811S)

Ref Sequence

ENSEMBL: ENSMUSP00000133166 (fasta)

Gene Model

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

AlphaFold

Q9EQH2

Predicted Effect

probably benign
Transcript: ENSMUST00000169114
AA Change: F811S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: F811S

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	A	G	19: 53,219,638 (GRCm39)	D121G	probably damaging	Het
Cacna1s	A	G	1: 136,043,802 (GRCm39)	D1380G	probably benign	Het
Clca3a1	T	C	3: 144,453,262 (GRCm39)	Y487C	probably damaging	Het
Coro2a	A	G	4: 46,544,158 (GRCm39)	S278P	possibly damaging	Het
Creb3l3	A	G	10: 80,927,047 (GRCm39)	S128P	probably benign	Het
Dab2	A	G	15: 6,465,892 (GRCm39)	R697G	probably damaging	Het
Fam170b	A	G	14: 32,557,482 (GRCm39)	S106G	probably damaging	Het
Galk2	T	C	2: 125,771,563 (GRCm39)	L196P	probably damaging	Het
Gan	T	C	8: 117,910,314 (GRCm39)	M81T	probably benign	Het
Gemin2	A	G	12: 59,068,511 (GRCm39)	T197A	probably benign	Het
Hemgn	A	T	4: 46,396,504 (GRCm39)	M244K	probably benign	Het
Htr6	A	G	4: 138,789,080 (GRCm39)	F325S	probably damaging	Het
Igkv9-120	A	G	6: 68,027,398 (GRCm39)	D104G	probably damaging	Het
Itpr2	A	C	6: 146,281,008 (GRCm39)	I216S	probably damaging	Het
Lingo1	T	C	9: 56,526,748 (GRCm39)	I614V	possibly damaging	Het
Mep1b	C	T	18: 21,226,710 (GRCm39)	T524M	probably benign	Het
Mtif2	A	G	11: 29,480,702 (GRCm39)		probably benign	Het
Mylk	G	A	16: 34,732,562 (GRCm39)	R614H	possibly damaging	Het
Or2ag2	T	C	7: 106,485,410 (GRCm39)	T205A	probably benign	Het
Or52s19	T	C	7: 103,007,446 (GRCm39)		probably benign	Het
Pabpc4	G	A	4: 123,180,502 (GRCm39)	D75N	probably damaging	Het
Paics	T	A	5: 77,109,355 (GRCm39)		probably null	Het
Prl	T	A	13: 27,248,870 (GRCm39)	I172N	probably benign	Het
Ripk2	A	G	4: 16,152,056 (GRCm39)	S168P	probably damaging	Het
Siglecf	T	C	7: 43,001,865 (GRCm39)	V225A	probably damaging	Het
Slc36a1	A	G	11: 55,110,430 (GRCm39)	I86V	probably benign	Het
Slc6a13	A	G	6: 121,309,407 (GRCm39)	Y306C	probably damaging	Het
Soat2	T	A	15: 102,066,078 (GRCm39)	L250Q	probably damaging	Het
Tex38	A	G	4: 115,637,762 (GRCm39)	S14P	probably damaging	Het
Tm2d1	A	T	4: 98,268,921 (GRCm39)	C59S	possibly damaging	Het
Tmco1	A	G	1: 167,143,848 (GRCm39)	D82G	probably damaging	Het
Tmem245	G	A	4: 56,886,019 (GRCm39)	R866W	probably damaging	Het
Tnip1	G	T	11: 54,831,652 (GRCm39)	Y7*	probably null	Het
Trp73	A	G	4: 154,189,330 (GRCm39)	M48T	probably benign	Het
Tslp	T	C	18: 32,948,612 (GRCm39)		probably benign	Het
Usp47	T	C	7: 111,688,827 (GRCm39)	F745L	probably damaging	Het
Vmn2r53	T	A	7: 12,334,791 (GRCm39)	T290S	probably benign	Het
Wdr1	T	C	5: 38,718,472 (GRCm39)	D30G	probably benign	Het
Zkscan2	T	C	7: 123,094,073 (GRCm39)	Y247C	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
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

2016-08-02