Mutagenetix > Incidental Mutation

Incidental Mutation 'R1619:Erap1'

174560

Institutional Source

Beutler Lab

Gene Symbol

Erap1

Ensembl Gene

ENSMUSG00000021583

Gene Name

endoplasmic reticulum aminopeptidase 1

Synonyms

Arts1, PILSAP, ERAAP

MMRRC Submission

039656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R1619 (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 74819500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 171 (H171Q)

Ref Sequence

ENSEMBL: ENSMUSP00000152076 (fasta)

Gene Model

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

AlphaFold

Q9EQH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000169114
AA Change: H600Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: H600Q

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

probably damaging
Transcript: ENSMUST00000222127
AA Change: H171Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,844,889 (GRCm39)	H1537L	probably damaging	Het
Actg2	T	A	6: 83,500,169 (GRCm39)	N116I	probably damaging	Het
Actn1	G	A	12: 80,219,796 (GRCm39)	H692Y	probably damaging	Het
Adamts6	C	T	13: 104,449,285 (GRCm39)	P36S	probably benign	Het
Agr3	G	A	12: 35,997,858 (GRCm39)		probably null	Het
Ank3	T	C	10: 69,715,805 (GRCm39)	V500A	probably damaging	Het
BC051019	T	A	7: 109,317,269 (GRCm39)	D141V	probably damaging	Het
Bco1	T	C	8: 117,835,454 (GRCm39)	F135S	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccdc42	A	G	11: 68,485,115 (GRCm39)	K210E	probably damaging	Het
Cckar	A	T	5: 53,857,409 (GRCm39)	W263R	probably damaging	Het
Cela2a	A	G	4: 141,553,252 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,748,159 (GRCm39)	N90K	probably damaging	Het
Ces2g	A	T	8: 105,693,984 (GRCm39)	Q440L	probably damaging	Het
Chchd6	G	T	6: 89,396,736 (GRCm39)	T225K	possibly damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chrna5	A	G	9: 54,911,649 (GRCm39)	T46A	probably benign	Het
Col16a1	G	A	4: 129,992,733 (GRCm39)	G1531S	probably damaging	Het
Col19a1	A	T	1: 24,573,172 (GRCm39)	V200E	unknown	Het
Csf2rb	A	G	15: 78,219,411 (GRCm39)	D2G	probably damaging	Het
Csmd3	G	A	15: 47,813,346 (GRCm39)	S1062L	probably damaging	Het
Cul5	G	T	9: 53,569,893 (GRCm39)	Q113K	probably benign	Het
Dmwd	TAGCCTGGGAA	TAGCCTGGGAAGCCTGGGAA	7: 18,814,959 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,029,230 (GRCm39)	D620G	probably damaging	Het
Dsg1c	A	G	18: 20,397,899 (GRCm39)	N33S	probably benign	Het
Epc2	G	A	2: 49,439,990 (GRCm39)	V803I	probably damaging	Het
Esrrb	T	C	12: 86,561,274 (GRCm39)	V336A	possibly damaging	Het
Fech	A	T	18: 64,595,189 (GRCm39)	W300R	probably damaging	Het
Fgd4	T	C	16: 16,241,920 (GRCm39)	I635V	possibly damaging	Het
Galc	A	T	12: 98,200,563 (GRCm39)	N282K	probably benign	Het
Gpat2	A	G	2: 127,270,637 (GRCm39)	Y95C	probably benign	Het
Grm2	T	A	9: 106,524,670 (GRCm39)	I682F	probably damaging	Het
Hdac10	G	T	15: 89,010,878 (GRCm39)	A241D	probably damaging	Het
Helz	T	A	11: 107,527,105 (GRCm39)	C182*	probably null	Het
Ift140	A	G	17: 25,307,839 (GRCm39)	Y978C	probably damaging	Het
Intu	T	A	3: 40,652,061 (GRCm39)	C839*	probably null	Het
Jmjd1c	T	C	10: 67,055,654 (GRCm39)	V358A	probably benign	Het
Kif26b	A	G	1: 178,744,043 (GRCm39)	S1380G	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Lrrc2	T	A	9: 110,790,041 (GRCm39)	S99R	probably benign	Het
Mrpl48	G	A	7: 100,195,482 (GRCm39)		probably benign	Het
Mup9	A	G	4: 60,377,878 (GRCm39)		probably benign	Het
Nap1l1	G	A	10: 111,329,240 (GRCm39)	V285I	possibly damaging	Het
Nepro	A	G	16: 44,547,391 (GRCm39)	D36G	probably benign	Het
Nkain4	A	G	2: 180,577,794 (GRCm39)	F187L	probably damaging	Het
Nobox	A	T	6: 43,284,401 (GRCm39)	C82S	possibly damaging	Het
Ntn4	C	A	10: 93,480,596 (GRCm39)	Q70K	probably damaging	Het
Or13j1	A	G	4: 43,706,292 (GRCm39)	I92T	probably damaging	Het
Or1e26	A	T	11: 73,480,118 (GRCm39)	W149R	probably damaging	Het
Or4k37	A	G	2: 111,159,306 (GRCm39)	I181V	probably benign	Het
Or51a43	T	C	7: 103,717,738 (GRCm39)	R167G	probably damaging	Het
Or5b122	T	A	19: 13,562,978 (GRCm39)	F103L	probably benign	Het
Or9r3	A	G	10: 129,948,548 (GRCm39)	I37T	possibly damaging	Het
Pappa	A	G	4: 65,094,466 (GRCm39)	E497G	probably damaging	Het
Pard3	C	A	8: 128,106,983 (GRCm39)	T569K	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdh10	A	G	3: 45,334,747 (GRCm39)	N354D	possibly damaging	Het
Pdgfc	T	C	3: 81,082,194 (GRCm39)	V129A	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Phf20l1	A	T	15: 66,487,108 (GRCm39)	H407L	possibly damaging	Het
Phip	A	T	9: 82,753,502 (GRCm39)	D1747E	probably benign	Het
Pkd1l1	A	G	11: 8,900,413 (GRCm39)	S43P	probably damaging	Het
Plekhg2	T	C	7: 28,067,846 (GRCm39)	E202G	probably damaging	Het
Rapsn	A	G	2: 90,873,504 (GRCm39)	D270G	possibly damaging	Het
Rims2	A	C	15: 39,370,382 (GRCm39)	S939R	probably damaging	Het
Ripor3	T	C	2: 167,822,765 (GRCm39)	D932G	probably damaging	Het
Rtp2	A	T	16: 23,749,421 (GRCm39)	W30R	probably damaging	Het
Scgb2b27	A	T	7: 33,711,557 (GRCm39)	D97E	probably benign	Het
Slc25a46	T	C	18: 31,716,542 (GRCm39)	N320S	probably benign	Het
Slc9b1	A	G	3: 135,060,765 (GRCm39)		probably null	Het
Socs4	T	A	14: 47,527,740 (GRCm39)	M225K	possibly damaging	Het
Spata31d1a	A	T	13: 59,850,247 (GRCm39)	L627*	probably null	Het
Srcin1	A	G	11: 97,416,307 (GRCm39)	L975P	probably damaging	Het
Stard3	T	A	11: 98,267,435 (GRCm39)		probably null	Het
Susd2	G	T	10: 75,473,878 (GRCm39)	S572R	possibly damaging	Het
Tll1	C	A	8: 64,509,307 (GRCm39)	A568S	probably benign	Het
Tmem132a	C	G	19: 10,839,062 (GRCm39)	G460A	probably damaging	Het
Trim62	A	G	4: 128,803,281 (GRCm39)	K444E	probably damaging	Het
Trpm3	A	G	19: 22,689,271 (GRCm39)	T67A	probably damaging	Het
Ttc6	T	C	12: 57,784,454 (GRCm39)	M1841T	possibly damaging	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Vmn2r38	C	A	7: 9,078,532 (GRCm39)	V617L	probably damaging	Het
Xkr6	G	A	14: 64,056,766 (GRCm39)	V226M	probably benign	Het
Zfp940	G	A	7: 29,544,962 (GRCm39)	A315V	possibly damaging	Het
Zfr	C	A	15: 12,150,473 (GRCm39)	T480K	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
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
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'- ACAGTTGAGCACCGTAACACTGAAAG -3'
(R):5'- TCCCTGTTGGAAGAACGTGGAGAG -3'

Sequencing Primer
(F):5'- AGAGTCTGTATCTAACGCTACTG -3'
(R):5'- GCCatcaatcaatcaatcaatcaatc -3'

Posted On

2014-04-24