Mutagenetix > Incidental Mutations

Incidental Mutation 'R3938:Erap1'

307296

Institutional Source

Beutler Lab

Gene Symbol

Erap1

Ensembl Gene

ENSMUSG00000021583

Gene Name

endoplasmic reticulum aminopeptidase 1

Synonyms

ERAAP, Arts1, PILSAP

MMRRC Submission

040825-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74639568-74693201 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74668028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 92 (L92Q)

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: L521Q

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

SMART Domains

Protein: ENSMUSP00000133166
Gene: ENSMUSG00000021583
AA Change: L521Q

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 damaging
Transcript: ENSMUST00000222127
AA Change: L92Q

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

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,154,294	P1561L	probably damaging	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,186,928	N659I	probably benign	Het
BC049715	T	C	6: 136,840,455	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,384,079	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,352,673	T293I	probably benign	Het
Chd5	A	T	4: 152,377,055	T1275S	probably benign	Het
Chtf8	A	T	8: 106,885,905	M134K	probably benign	Het
Col11a2	A	T	17: 34,039,625		probably benign	Het
Cyp8b1	A	G	9: 121,915,618	V216A	probably benign	Het
Dnah8	C	T	17: 30,854,937	T4527M	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Exoc3l	G	T	8: 105,293,405	P296H	probably damaging	Het
Gm5294	A	T	5: 138,820,968	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hrnr	T	A	3: 93,322,855	N133K	probably benign	Het
Itgax	G	T	7: 128,136,273	R504S	possibly damaging	Het
Itgb4	A	G	11: 116,005,926	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,282,801	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,712,780	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga1	G	T	17: 29,857,622	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,124,683	V466A	possibly damaging	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,695,473	L311P	probably damaging	Het
Nup205	A	G	6: 35,219,742	R1138G	probably damaging	Het
Nup54	A	G	5: 92,417,529	M443T	probably damaging	Het
Peak1	T	C	9: 56,260,365	E93G	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Poll	A	G	19: 45,558,418		probably benign	Het
Ppp1r3a	A	T	6: 14,719,074	S614T	probably damaging	Het
Pygm	A	T	19: 6,392,950	I556F	probably benign	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rcor3	G	T	1: 192,101,085	T361K	possibly damaging	Het
Robo4	A	G	9: 37,402,017		probably benign	Het
Rps15	T	C	10: 80,293,839	V96A	probably benign	Het
Rrm2	T	A	12: 24,709,432	N55K	probably damaging	Het
Shank2	T	C	7: 144,128,375	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,491,993	E3*	probably null	Het
Slc7a8	T	A	14: 54,735,841	E223V	probably benign	Het
Snx13	A	G	12: 35,144,097	K880E	probably benign	Het
Spinkl	T	G	18: 44,168,149	M41L	probably benign	Het
Srp54a	A	C	12: 55,089,257	N19T	probably benign	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Sytl1	G	A	4: 133,255,624	Q359*	probably null	Het
Tlr6	A	T	5: 64,953,595	F656L	probably damaging	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tmem45a2	C	T	16: 57,039,035	D278N	probably benign	Het
Trav7-1	T	C	14: 52,655,334		probably benign	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,950,816		probably benign	Het
Usp9y	C	T	Y: 1,313,741	M2188I	probably damaging	Het
Utrn	C	A	10: 12,750,030		probably null	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,305,416	Y59F	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
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
R5566:Erap1	UTSW	13	74662412	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
R8799:Erap1	UTSW	13	74657636	missense	probably benign	0.02
R9041:Erap1	UTSW	13	74674699	missense	probably benign	0.02
R9232:Erap1	UTSW	13	74663518	missense	probably benign	0.36
R9244:Erap1	UTSW	13	74673784	splice site	probably null
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'- AGGGCCAACTGTCAAGACAC -3'
(R):5'- TTCAGCTGAAGCAGTCAAGG -3'

Sequencing Primer
(F):5'- CCAACTGTCAAGACACAGAGGTTTG -3'
(R):5'- CTGAAGCAGTCAAGGGAAGG -3'

Posted On

2015-04-17