Mutagenetix > Incidental Mutation

Incidental Mutation 'R0627:Erap1'

57648

Institutional Source

Beutler Lab

Gene Symbol

Erap1

Ensembl Gene

ENSMUSG00000021583

Gene Name

endoplasmic reticulum aminopeptidase 1

Synonyms

Arts1, PILSAP, ERAAP

MMRRC Submission

038816-MU

Accession Numbers

Essential gene?

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

Stock #

R0627 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

74787692-74841324 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 74823933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152076 (fasta)

Gene Model

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

AlphaFold

Q9EQH2

Predicted Effect

probably benign
Transcript: ENSMUST00000169114

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583

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

1x: 99.3%
3x: 98.8%
10x: 97.2%
20x: 94.2%

Validation Efficiency

99% (111/112)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	T	A	15: 89,208,508 (GRCm39)	Y149*	probably null	Het
Ahi1	G	A	10: 20,841,421 (GRCm39)	R236H	probably benign	Het
Armcx4	A	G	X: 133,596,572 (GRCm39)	N2160S	possibly damaging	Het
Asns	A	T	6: 7,675,516 (GRCm39)	D495E	probably benign	Het
Atosb	G	T	4: 43,036,242 (GRCm39)	P163Q	probably damaging	Het
Bcl9	A	G	3: 97,112,789 (GRCm39)	V1222A	probably damaging	Het
Cd46	A	T	1: 194,774,494 (GRCm39)	C14S	probably benign	Het
Cdk11b	T	A	4: 155,725,229 (GRCm39)		probably benign	Het
Cdkl3	T	C	11: 51,902,135 (GRCm39)	Y115H	probably damaging	Het
Cep41	C	A	6: 30,656,630 (GRCm39)	C274F	probably damaging	Het
Ces1a	C	A	8: 93,768,671 (GRCm39)	V108F	probably benign	Het
Clca4b	A	G	3: 144,634,020 (GRCm39)	Y132H	probably benign	Het
Col5a3	T	C	9: 20,686,781 (GRCm39)	E1323G	unknown	Het
Cttnbp2	A	G	6: 18,367,372 (GRCm39)	*1139Q	probably null	Het
Cyp2d9	T	A	15: 82,339,991 (GRCm39)	I127N	probably damaging	Het
Dennd1b	A	G	1: 139,008,957 (GRCm39)	Y220C	probably damaging	Het
Desi2	T	C	1: 178,076,918 (GRCm39)	S141P	possibly damaging	Het
Dgcr2	A	G	16: 17,661,872 (GRCm39)	S453P	probably damaging	Het
Dnah3	A	G	7: 119,620,138 (GRCm39)	L1586P	probably damaging	Het
Dpep3	T	C	8: 106,705,363 (GRCm39)	D129G	possibly damaging	Het
Eci3	C	T	13: 35,132,126 (GRCm39)	V241I	possibly damaging	Het
Ecm2	A	T	13: 49,674,559 (GRCm39)		probably benign	Het
Emilin3	A	G	2: 160,750,096 (GRCm39)	L551P	probably damaging	Het
Ern1	T	C	11: 106,289,519 (GRCm39)	D928G	probably benign	Het
Fancc	C	A	13: 63,465,292 (GRCm39)	A472S	probably damaging	Het
Fkbp7	A	T	2: 76,503,188 (GRCm39)	D57E	probably damaging	Het
Gabbr2	T	A	4: 46,681,223 (GRCm39)	I703F	possibly damaging	Het
Gabrg3	A	T	7: 56,374,343 (GRCm39)	C408S	probably damaging	Het
Gm8674	T	C	13: 50,053,751 (GRCm39)		noncoding transcript	Het
Gnas	G	A	2: 174,139,928 (GRCm39)		probably benign	Het
Grhl3	A	G	4: 135,279,992 (GRCm39)	V354A	probably benign	Het
Gsdme	G	T	6: 50,206,259 (GRCm39)		probably benign	Het
H2-D1	A	G	17: 35,484,898 (GRCm39)	E253G	probably damaging	Het
Habp2	A	G	19: 56,302,478 (GRCm39)	T31A	probably damaging	Het
Ifrd1	A	G	12: 40,256,986 (GRCm39)		probably null	Het
Il20	A	G	1: 130,837,476 (GRCm39)		probably benign	Het
Isx	A	T	8: 75,619,328 (GRCm39)	I160F	possibly damaging	Het
Itgb2l	T	G	16: 96,224,111 (GRCm39)		probably benign	Het
Kcnv1	T	G	15: 44,976,277 (GRCm39)		probably benign	Het
Kif17	T	C	4: 138,015,798 (GRCm39)		probably null	Het
Kirrel3	A	C	9: 34,946,470 (GRCm39)	D743A	probably damaging	Het
Lmod3	T	C	6: 97,225,032 (GRCm39)	D263G	probably damaging	Het
Manf	A	G	9: 106,766,385 (GRCm39)	L132P	probably damaging	Het
Mark2	C	T	19: 7,259,325 (GRCm39)		probably null	Het
Med10	G	A	13: 69,963,720 (GRCm39)	S107N	possibly damaging	Het
Med31	A	G	11: 72,104,601 (GRCm39)		probably null	Het
Mki67	C	A	7: 135,309,987 (GRCm39)	A155S	probably benign	Het
Mprip	T	A	11: 59,660,798 (GRCm39)	L2193Q	probably damaging	Het
Mylk	A	G	16: 34,820,799 (GRCm39)	N126S	probably damaging	Het
Myo16	A	G	8: 10,489,689 (GRCm39)	I715V	probably benign	Het
Myo18b	T	C	5: 112,946,700 (GRCm39)	T1591A	probably benign	Het
Myt1	T	A	2: 181,437,482 (GRCm39)	D64E	probably benign	Het
Ndufa10	A	T	1: 92,397,618 (GRCm39)	Y61N	probably damaging	Het
Nob1	A	G	8: 108,142,856 (GRCm39)	F275S	probably damaging	Het
Nop2	T	C	6: 125,116,667 (GRCm39)	V333A	possibly damaging	Het
Ogdh	T	A	11: 6,297,216 (GRCm39)	V545D	possibly damaging	Het
Or1l4b	T	G	2: 37,036,342 (GRCm39)	N39K	probably damaging	Het
Or4p21	A	G	2: 88,276,563 (GRCm39)	S240P	probably damaging	Het
Or5b107	A	G	19: 13,142,614 (GRCm39)	T79A	probably benign	Het
Or5t16	T	C	2: 86,819,358 (GRCm39)	N54S	probably benign	Het
Or6d13	T	A	6: 116,517,949 (GRCm39)	N178K	possibly damaging	Het
Or6n2	G	T	1: 173,897,643 (GRCm39)	V260F	probably damaging	Het
Or9k2b	A	G	10: 130,016,557 (GRCm39)	F64S	probably damaging	Het
Pcdhb1	T	C	18: 37,398,774 (GRCm39)	F242L	probably damaging	Het
Pkd2l2	A	G	18: 34,558,155 (GRCm39)	Y278C	probably damaging	Het
Plxdc1	T	A	11: 97,823,030 (GRCm39)		probably null	Het
Ppp2r5b	A	G	19: 6,282,664 (GRCm39)		probably benign	Het
Pramel31	C	A	4: 144,089,416 (GRCm39)	L245I	probably benign	Het
Prelid2	T	A	18: 42,070,717 (GRCm39)	T39S	possibly damaging	Het
Prkd1	A	T	12: 50,536,824 (GRCm39)	F87I	probably benign	Het
Prl3d3	C	T	13: 27,340,830 (GRCm39)	T4I	probably damaging	Het
Proser3	T	A	7: 30,240,208 (GRCm39)	T299S	probably benign	Het
Ptprc	G	T	1: 137,996,058 (GRCm39)	H1095N	probably damaging	Het
Rab11fip5	G	T	6: 85,325,033 (GRCm39)	P425T	probably benign	Het
Rac2	T	C	15: 78,449,168 (GRCm39)	T115A	probably damaging	Het
Rtl9	C	A	X: 141,884,271 (GRCm39)	T561K	possibly damaging	Het
Runx2	T	C	17: 44,969,392 (GRCm39)		probably benign	Het
Rxfp1	C	T	3: 79,555,518 (GRCm39)	V613I	probably benign	Het
Scn9a	T	C	2: 66,367,721 (GRCm39)	K656R	probably benign	Het
Sec31b	A	G	19: 44,514,046 (GRCm39)	S406P	probably benign	Het
Septin5	T	C	16: 18,444,115 (GRCm39)	D44G	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc35c2	T	C	2: 165,124,056 (GRCm39)	T94A	possibly damaging	Het
Slc8a3	T	A	12: 81,361,616 (GRCm39)	D401V	probably damaging	Het
Slitrk1	A	T	14: 109,149,671 (GRCm39)	C347S	probably damaging	Het
Smg1	G	T	7: 117,767,084 (GRCm39)		probably benign	Het
Snx14	T	C	9: 88,276,483 (GRCm39)	K610E	probably benign	Het
Spata31e2	A	G	1: 26,724,970 (GRCm39)	M70T	probably benign	Het
Sppl2a	A	G	2: 126,762,337 (GRCm39)		probably benign	Het
Stk-ps2	T	A	1: 46,068,851 (GRCm39)		noncoding transcript	Het
Sult3a1	T	C	10: 33,740,010 (GRCm39)	M23T	probably benign	Het
Syt5	A	G	7: 4,548,682 (GRCm39)	L50P	possibly damaging	Het
Tacr1	A	G	6: 82,532,012 (GRCm39)	I303V	possibly damaging	Het
Trip12	C	A	1: 84,746,318 (GRCm39)	V487F	probably damaging	Het
Vcp	A	G	4: 42,983,011 (GRCm39)	S612P	possibly damaging	Het
Vmn1r47	A	G	6: 89,999,788 (GRCm39)	I307V	probably null	Het
Vmn1r83	T	G	7: 12,055,919 (GRCm39)	D46A	probably damaging	Het
Vmn2r118	G	T	17: 55,917,772 (GRCm39)	Q247K	probably benign	Het
Vmn2r94	C	T	17: 18,477,427 (GRCm39)	C328Y	probably damaging	Het
Vps13b	T	A	15: 35,372,145 (GRCm39)	Y13*	probably null	Het
Vps13d	C	T	4: 144,813,754 (GRCm39)	R3241H	probably damaging	Het
Wdr5b	A	G	16: 35,862,840 (GRCm39)	T320A	probably benign	Het
Zfhx2	A	T	14: 55,302,784 (GRCm39)	D1733E	probably benign	Het
Zfp541	A	G	7: 15,829,607 (GRCm39)		probably benign	Het
Zfp708	A	T	13: 67,218,781 (GRCm39)	Y314*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGTACTCCTTGGCTTGCCTGAAAC -3'
(R):5'- ACAGGATTCATCCTCAGTGTGCCAC -3'

Sequencing Primer
(F):5'- ACCTTCCTCCTCCAAGATCAGTATAG -3'
(R):5'- AGTGTGCCACATCTTTTGTTC -3'

Posted On

2013-07-11