Mutagenetix > Incidental Mutation

Incidental Mutation 'R4247:Erap1'

320477

Institutional Source

Beutler Lab

Gene Symbol

Erap1

Ensembl Gene

ENSMUSG00000021583

Gene Name

endoplasmic reticulum aminopeptidase 1

Synonyms

Arts1, PILSAP, ERAAP

MMRRC Submission

041063-MU

Accession Numbers

Essential gene?

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

Stock #

R4247 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74787692-74841324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74823414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 816 (I816T)

Ref Sequence

ENSEMBL: ENSMUSP00000133166 (fasta)

Gene Model

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

AlphaFold

Q9EQH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000169114
AA Change: I816T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: I816T

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

Meta Mutation Damage Score

0.7433

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (41/42)

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
Adam22	T	C	5: 8,195,626 (GRCm39)	I305V	probably benign	Het
Aga	T	A	8: 53,964,865 (GRCm39)	L9Q	possibly damaging	Het
Akna	C	T	4: 63,313,409 (GRCm39)	G238D	probably benign	Het
Arhgap23	G	A	11: 97,354,525 (GRCm39)	E813K	probably damaging	Het
Atp13a2	T	C	4: 140,719,539 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,824,917 (GRCm39)	G820S	probably damaging	Het
Ccdc97	T	G	7: 25,415,459 (GRCm39)	H68P	possibly damaging	Het
Dclre1b	A	C	3: 103,711,400 (GRCm39)		probably null	Het
Fubp1	G	A	3: 151,937,573 (GRCm39)	A103T	possibly damaging	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gtf3c5	T	C	2: 28,461,196 (GRCm39)	D306G	probably damaging	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Hsdl2	A	T	4: 59,594,417 (GRCm39)	N16I	probably damaging	Het
Kif14	G	T	1: 136,401,126 (GRCm39)	M492I	possibly damaging	Het
Kif27	A	G	13: 58,435,731 (GRCm39)	V1354A	probably damaging	Het
Kif9	G	T	9: 110,325,027 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Lrrc24	A	G	15: 76,602,176 (GRCm39)	I193T	possibly damaging	Het
Or2bd2	A	G	7: 6,441,901 (GRCm39)		probably benign	Het
Or52b1	T	C	7: 104,979,355 (GRCm39)	I15V	probably benign	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Pramel52-ps	A	G	5: 94,531,446 (GRCm39)	D110G	possibly damaging	Het
Ranbp2	A	G	10: 58,314,686 (GRCm39)	D1802G	possibly damaging	Het
Resf1	T	A	6: 149,227,041 (GRCm39)	M29K	possibly damaging	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Scn11a	C	T	9: 119,636,952 (GRCm39)	V250M	probably damaging	Het
Slitrk1	A	G	14: 109,149,994 (GRCm39)	V239A	possibly damaging	Het
Slitrk6	T	A	14: 110,988,171 (GRCm39)	D512V	probably damaging	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Tamalin	G	T	15: 101,122,418 (GRCm39)	R79L	possibly damaging	Het
Trp73	A	G	4: 154,149,089 (GRCm39)		probably null	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Upp1	T	C	11: 9,084,815 (GRCm39)	I178T	probably benign	Het
Vmn2r73	A	T	7: 85,521,883 (GRCm39)	L152Q	probably damaging	Het
Vmn2r97	T	C	17: 19,167,542 (GRCm39)	S599P	possibly damaging	Het
Wrnip1	T	C	13: 32,990,866 (GRCm39)	L375P	probably damaging	Het
Zfp945	C	T	17: 23,069,583 (GRCm39)	G793D	probably damaging	Het
Zfyve9	C	A	4: 108,576,389 (GRCm39)	A231S	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
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
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'- AGTGGGTTTATCAAGACACTACC -3'
(R):5'- ATCCAGATGCAAGCGTTAGAAG -3'

Sequencing Primer
(F):5'- GACACTACCAATTTACCTTTGAGGAC -3'
(R):5'- CCAGATGCAAGCGTTAGAAGTCAAC -3'

Posted On

2015-06-12