Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:Erap1'

224202

Institutional Source

Beutler Lab

Gene Symbol

Erap1

Ensembl Gene

ENSMUSG00000021583

Gene Name

endoplasmic reticulum aminopeptidase 1

Synonyms

Arts1, PILSAP, ERAAP

MMRRC Submission

040031-MU

Accession Numbers

Essential gene?

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

Stock #

R2022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74787692-74841324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74814627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 451 (V451E)

Ref Sequence

ENSEMBL: ENSMUSP00000133166 (fasta)

Gene Model

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

AlphaFold

Q9EQH2

Predicted Effect

probably benign
Transcript: ENSMUST00000169114
AA Change: V451E

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: V451E

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

Meta Mutation Damage Score

0.2088

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Akr1cl	T	A	1: 65,053,857 (GRCm39)	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,602,739 (GRCm39)	M1K	probably null	Het
Atp4b	A	C	8: 13,437,477 (GRCm39)	N225K	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cactin	C	T	10: 81,158,727 (GRCm39)	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418 (GRCm39)	H1423N	probably benign	Het
Cfap251	G	A	5: 123,411,853 (GRCm39)	G495D	probably benign	Het
Chd9	T	C	8: 91,761,682 (GRCm39)	Y2256H	probably benign	Het
Chst8	A	G	7: 34,374,589 (GRCm39)	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Clec5a	A	T	6: 40,562,128 (GRCm39)	V12E	probably damaging	Het
Crebbp	C	T	16: 3,903,683 (GRCm39)	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,801,224 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,601,836 (GRCm39)	L265P	probably damaging	Het
Dnah3	A	G	7: 119,550,465 (GRCm39)	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,004,405 (GRCm39)	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,069,870 (GRCm39)	S362P	probably damaging	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dym	T	C	18: 75,213,321 (GRCm39)	V181A	probably benign	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Epb41l4a	C	T	18: 34,054,893 (GRCm39)	S65N	probably benign	Het
F830045P16Rik	T	A	2: 129,314,585 (GRCm39)	I231F	probably damaging	Het
Fahd1	T	C	17: 25,068,814 (GRCm39)	I88V	probably benign	Het
Fam120b	C	T	17: 15,644,638 (GRCm39)	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,289,517 (GRCm39)	T161S	probably benign	Het
Gm6309	C	T	5: 146,105,121 (GRCm39)	G264D	probably benign	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ino80b	A	G	6: 83,101,353 (GRCm39)	M119T	probably damaging	Het
Kif3a	G	A	11: 53,461,408 (GRCm39)	V17M	probably damaging	Het
Krt40	T	A	11: 99,430,818 (GRCm39)	E285D	probably damaging	Het
Lair1	C	G	7: 4,066,063 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,999,503 (GRCm39)	T290A	possibly damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Mok	A	T	12: 110,778,257 (GRCm39)	D216E	probably benign	Het
Muc15	A	T	2: 110,561,821 (GRCm39)	T86S	probably benign	Het
Myo16	A	G	8: 10,322,633 (GRCm39)	K21R	probably benign	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nfrkb	C	T	9: 31,322,546 (GRCm39)	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,585,710 (GRCm39)	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,084,221 (GRCm39)	Y453N	probably damaging	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,098,309 (GRCm39)	D515V	probably damaging	Het
Nsd1	T	C	13: 55,361,092 (GRCm39)	V20A	probably damaging	Het
Opn4	T	A	14: 34,319,028 (GRCm39)	T186S	probably benign	Het
Or9k2	T	C	10: 129,999,049 (GRCm39)	M49V	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,532,363 (GRCm39)	E24V	possibly damaging	Het
Pigg	A	T	5: 108,460,788 (GRCm39)		probably benign	Het
Plscr2	A	G	9: 92,177,647 (GRCm39)	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prdm6	A	G	18: 53,598,031 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,417,534 (GRCm39)	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,061,292 (GRCm39)	R65*	probably null	Het
Prom1	G	T	5: 44,187,068 (GRCm39)	D396E	probably benign	Het
Ptcd3	C	T	6: 71,862,537 (GRCm39)	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rab36	T	C	10: 74,888,306 (GRCm39)	I250T	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Slc22a16	T	C	10: 40,467,873 (GRCm39)	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Sptan1	C	T	2: 29,897,573 (GRCm39)	A1212V	probably damaging	Het
Ssr1	C	T	13: 38,173,525 (GRCm39)	A79T	probably damaging	Het
Tiam1	T	A	16: 89,674,075 (GRCm39)	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,227,231 (GRCm39)	F280S	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Tpbpa	T	A	13: 61,088,036 (GRCm39)	N50I	probably benign	Het
Tshz1	T	A	18: 84,031,987 (GRCm39)	Y807F	probably damaging	Het
Tspo2	C	T	17: 48,755,750 (GRCm39)	A131T	possibly damaging	Het
Usp16	T	C	16: 87,270,014 (GRCm39)	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,310,935 (GRCm39)	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,614,385 (GRCm39)	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,673,454 (GRCm39)	N171D	probably benign	Het
Vps51	T	C	19: 6,121,612 (GRCm39)	E162G	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zdhhc4	C	T	5: 143,307,538 (GRCm39)	R161H	probably damaging	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp541	T	A	7: 15,816,110 (GRCm39)	S866T	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGGGCCACAGTCCTATTAGAG -3'
(R):5'- AGCCATCCATTGTTTGTGTGC -3'

Sequencing Primer
(F):5'- CCTATTAGAGGGACTTATGGTATGG -3'
(R):5'- GTCACTCTCATTTCTCTAGAAAGTG -3'

Posted On

2014-08-25