Mutagenetix > Incidental Mutations

Incidental Mutation 'R5566:Erap1'

436859

Institutional Source

Beutler Lab

Gene Symbol

Erap1

Ensembl Gene

ENSMUSG00000021583

Gene Name

endoplasmic reticulum aminopeptidase 1

Synonyms

ERAAP, Arts1, PILSAP

MMRRC Submission

043123-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74639568-74693201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74662412 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 290 (Y290C)

Ref Sequence

ENSEMBL: ENSMUSP00000133166 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169114
AA Change: Y290C

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

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: Y290C

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,180,692	I26T	possibly damaging	Het
Abca13	T	A	11: 9,294,615	Y2159*	probably null	Het
Abca3	A	G	17: 24,383,927	T499A	probably benign	Het
Abcb5	T	A	12: 118,935,967	T322S	probably damaging	Het
Adamts4	T	A	1: 171,250,850	M1K	probably null	Het
Adamtsl4	C	T	3: 95,685,455		probably null	Het
Adh4	A	T	3: 138,424,189	I259F	probably damaging	Het
Aff3	G	A	1: 38,181,424	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,285,648	D280G	probably benign	Het
Baiap3	T	C	17: 25,251,733	E71G	probably damaging	Het
BC030867	T	A	11: 102,255,833	S312T	probably damaging	Het
Calb2	A	G	8: 110,152,700	I91T	possibly damaging	Het
Ccr5	A	G	9: 124,124,660	N100S	probably benign	Het
Cep57	G	T	9: 13,821,575	R25S	probably damaging	Het
Chadl	A	G	15: 81,695,878	L52P	probably damaging	Het
Clec12b	T	C	6: 129,385,475	T6A	probably damaging	Het
Cnga1	T	A	5: 72,618,250	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,986,523		probably null	Het
Csmd2	T	C	4: 128,462,889		probably null	Het
Ctps	A	T	4: 120,554,103		probably null	Het
Cyp39a1	T	A	17: 43,685,208	W224R	possibly damaging	Het
Defb29	A	T	2: 152,538,928	Y54N	probably benign	Het
Dmbt1	A	T	7: 131,106,273	D1241V	probably damaging	Het
Dnah1	A	T	14: 31,274,366	I2671K	probably benign	Het
Dnah2	C	A	11: 69,516,569	E158*	probably null	Het
Edar	A	G	10: 58,628,641	S59P	possibly damaging	Het
Egr2	T	A	10: 67,540,766	C339*	probably null	Het
Eif5b	G	A	1: 38,045,684	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,051,247	G1169E	probably damaging	Het
Fastkd5	T	A	2: 130,614,301	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,810,924	V338M	probably damaging	Het
Gabra6	T	C	11: 42,307,490	T378A	probably benign	Het
Gm4924	C	A	10: 82,378,641	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,494,999		noncoding transcript	Het
Gpr108	A	G	17: 57,236,919	F429S	probably damaging	Het
Gpr162	G	A	6: 124,860,938	R250*	probably null	Het
Gtf2a1	A	T	12: 91,567,594	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Herc1	T	A	9: 66,465,537	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,300,754	Y167*	probably null	Het
Htt	T	C	5: 34,849,075	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,625,298	D28G	probably damaging	Het
Impact	T	G	18: 12,974,762	V29G	probably damaging	Het
Itpr3	A	G	17: 27,115,952	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,626,554	L50Q	probably damaging	Het
Jade1	A	G	3: 41,604,903	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,157,354	L131R	probably damaging	Het
Kif2a	A	T	13: 106,993,924	M1K	probably null	Het
Lrsam1	C	A	2: 32,941,858	Q368H	probably damaging	Het
Macf1	T	C	4: 123,435,164	Q4592R	probably damaging	Het
Map3k5	T	C	10: 20,110,719	V893A	probably damaging	Het
Med13l	G	T	5: 118,728,665	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,454,183	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,604,530	L471P	probably damaging	Het
Myo7a	T	C	7: 98,064,816	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,602,136	S352C	probably damaging	Het
Nfat5	T	A	8: 107,369,135	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,094,653	L668F	probably damaging	Het
Olfr1062	G	A	2: 86,423,377	Q100*	probably null	Het
Olfr18	T	C	9: 20,313,969	Q309R	probably benign	Het
Olfr527	C	A	7: 140,336,067	D68E	probably damaging	Het
Plxnb2	T	C	15: 89,164,020	T696A	probably benign	Het
Prkab2	T	A	3: 97,662,293	F58L	probably benign	Het
Prpf4	G	T	4: 62,415,969	L220F	probably benign	Het
Rad18	A	T	6: 112,681,346	D199E	probably benign	Het
Raet1e	T	C	10: 22,174,405	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,494,710	T1089P	possibly damaging	Het
Rest	A	G	5: 77,282,326	E864G	probably benign	Het
Rgsl1	T	A	1: 153,793,774	I289F	probably damaging	Het
Rint1	T	C	5: 23,810,953	Y406H	probably damaging	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Scn8a	T	C	15: 100,974,534	S485P	probably damaging	Het
Slamf1	T	A	1: 171,787,970	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,407,603	T362I	possibly damaging	Het
Sos1	C	T	17: 80,453,890	V126I	possibly damaging	Het
Srcap	T	C	7: 127,525,303	F215S	probably damaging	Het
Supt4a	T	A	11: 87,743,287	S110T	probably benign	Het
Tbc1d30	T	A	10: 121,302,110	T232S	probably damaging	Het
Tctex1d2	A	G	16: 32,419,900	Y31C	probably damaging	Het
Tenm3	A	G	8: 48,279,006	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,355,487	L100*	probably null	Het
Tgm1	C	A	14: 55,712,436	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,616,035	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,508,726	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,184,770	F320I	possibly damaging	Het
Vmn1r21	A	C	6: 57,844,094	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,880,480	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,545,290	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 42,046,823	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 86,226,078	Y564N	probably damaging	Het
Wee1	G	T	7: 110,126,050	E300*	probably null	Het
Xdh	T	C	17: 73,893,622	D1168G	probably damaging	Het
Zcchc6	A	T	13: 59,788,629	C817*	probably null	Het
Zfp54	A	G	17: 21,433,444	T67A	probably damaging	Het
Zfp941	G	T	7: 140,812,766	H227N	probably benign	Het
Zpr1	T	A	9: 46,281,075	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,455,824	E285G	probably damaging	Het

Other mutations in Erap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Erap1	APN	13	74673659	missense	probably benign	0.17
IGL00661:Erap1	APN	13	74674789	unclassified	probably benign
IGL00903:Erap1	APN	13	74673707	missense	probably benign
IGL01095:Erap1	APN	13	74668094	missense	probably benign	0.04
IGL01536:Erap1	APN	13	74662423	nonsense	probably null
IGL01646:Erap1	APN	13	74666172	missense	probably damaging	1.00
IGL01674:Erap1	APN	13	74664231	unclassified	probably benign
IGL01795:Erap1	APN	13	74666090	splice site	probably null
IGL01922:Erap1	APN	13	74662387	missense	probably damaging	1.00
IGL01951:Erap1	APN	13	74675295	missense	probably damaging	0.99
IGL02106:Erap1	APN	13	74646639	missense	probably benign
IGL02369:Erap1	APN	13	74666526	missense	probably benign	0.05
IGL02669:Erap1	APN	13	74675868	missense	probably benign	0.13
IGL02866:Erap1	APN	13	74667999	missense	probably damaging	0.96
IGL03093:Erap1	APN	13	74675280	missense	probably benign	0.10
IGL03265:Erap1	APN	13	74664127	missense	probably damaging	1.00
R0091:Erap1	UTSW	13	74668052	missense	possibly damaging	0.88
R0456:Erap1	UTSW	13	74664220	missense	probably benign	0.24
R0556:Erap1	UTSW	13	74660325	missense	probably damaging	1.00
R0627:Erap1	UTSW	13	74675814	unclassified	probably benign
R0825:Erap1	UTSW	13	74674614	unclassified	probably benign
R1123:Erap1	UTSW	13	74673643	missense	probably benign
R1530:Erap1	UTSW	13	74646543	missense	probably benign	0.06
R1619:Erap1	UTSW	13	74671381	missense	probably damaging	1.00
R1731:Erap1	UTSW	13	74666122	nonsense	probably null
R1944:Erap1	UTSW	13	74646639	missense	probably benign
R2016:Erap1	UTSW	13	74664151	missense	probably damaging	1.00
R2022:Erap1	UTSW	13	74666508	missense	probably benign	0.08
R2023:Erap1	UTSW	13	74666508	missense	probably benign	0.08
R2045:Erap1	UTSW	13	74669450	missense	probably benign	0.01
R2081:Erap1	UTSW	13	74675307	missense	possibly damaging	0.67
R2187:Erap1	UTSW	13	74662405	missense	probably damaging	0.98
R2198:Erap1	UTSW	13	74646687	missense	probably damaging	0.97
R3938:Erap1	UTSW	13	74668028	missense	probably damaging	1.00
R4052:Erap1	UTSW	13	74675340	missense	probably benign	0.13
R4062:Erap1	UTSW	13	74663536	missense	probably benign	0.02
R4128:Erap1	UTSW	13	74666196	missense	probably damaging	1.00
R4247:Erap1	UTSW	13	74675295	missense	probably damaging	0.99
R4562:Erap1	UTSW	13	74673659	missense	probably benign	0.21
R4691:Erap1	UTSW	13	74673692	missense	probably damaging	0.99
R4831:Erap1	UTSW	13	74690647	missense	probably damaging	1.00
R4916:Erap1	UTSW	13	74646528	missense	probably benign
R4983:Erap1	UTSW	13	74690710	missense	probably benign	0.01
R5213:Erap1	UTSW	13	74671495	splice site	probably null
R5229:Erap1	UTSW	13	74660375	missense	possibly damaging	0.94
R5367:Erap1	UTSW	13	74646561	missense	probably damaging	0.99
R5463:Erap1	UTSW	13	74646414	missense	probably damaging	1.00
R5972:Erap1	UTSW	13	74662304	splice site	probably null
R6112:Erap1	UTSW	13	74646279	missense	probably benign	0.44
R6132:Erap1	UTSW	13	74660282	missense	probably benign	0.00
R6180:Erap1	UTSW	13	74666226	missense	possibly damaging	0.55
R6314:Erap1	UTSW	13	74674775	missense	probably damaging	0.99
R6479:Erap1	UTSW	13	74663493	splice site	probably null
R6919:Erap1	UTSW	13	74671433	missense	probably benign	0.20
R7199:Erap1	UTSW	13	74666139	missense	probably benign	0.10
R7283:Erap1	UTSW	13	74673784	splice site	probably null
R7543:Erap1	UTSW	13	74674634	missense	probably damaging	1.00
R8174:Erap1	UTSW	13	74646564	missense	probably benign	0.09
R8217:Erap1	UTSW	13	74672818	missense	probably benign	0.33
R8320:Erap1	UTSW	13	74666549	missense	probably benign	0.02
X0067:Erap1	UTSW	13	74660372	missense	probably damaging	1.00
Z1176:Erap1	UTSW	13	74657638	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATTGTTCTCTCCAGTTGTAGTAG -3'
(R):5'- GCTGCACTGTCAGAAACTGC -3'

Sequencing Primer
(F):5'- CTCTCCAGTTGTAGTAGGAAGCC -3'
(R):5'- CTGCACTGTCAGAAACTGCATAGTG -3'

Posted On

2016-10-24