Mutagenetix > Incidental Mutation

Incidental Mutation 'R4878:Enpep'

375044

Institutional Source

Beutler Lab

Gene Symbol

Enpep

Ensembl Gene

ENSMUSG00000028024

Gene Name

glutamyl aminopeptidase

Synonyms

Ly51, aminopeptidase-A, Bp-1/6C3, 6030431M22Rik, APA, Ly-51

MMRRC Submission

042487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129269175-129332720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129276771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 829 (M829K)

Ref Sequence

ENSEMBL: ENSMUSP00000029658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029658]

AlphaFold

P16406

Predicted Effect

probably benign
Transcript: ENSMUST00000029658
AA Change: M829K

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: M829K

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
Pfam:Peptidase_M1	84	474	6e-147	PFAM
Pfam:ERAP1_C	607	925	1e-64	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164443

Predicted Effect

probably benign
Transcript: ENSMUST00000169240

SMART Domains

Protein: ENSMUSP00000129759
Gene: ENSMUSG00000028024

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	1	51	1.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170918

SMART Domains

Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M1	12	402	9.6e-148	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and morphologically unaffected with normal B and T cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Efemp2	A	T	19: 5,480,761		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891		probably benign	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Pde1a	A	T	2: 79,878,139	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rbm48	A	T	5: 3,591,853		probably benign	Het
Rft1	C	T	14: 30,677,804	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	Het

Other mutations in Enpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Enpep	APN	3	129332082	missense	possibly damaging	0.69
IGL01895:Enpep	APN	3	129270334	missense	possibly damaging	0.89
IGL02193:Enpep	APN	3	129281687	missense	possibly damaging	0.46
IGL02215:Enpep	APN	3	129270277	splice site	probably benign
IGL02511:Enpep	APN	3	129321410	missense	probably damaging	1.00
IGL02579:Enpep	APN	3	129284090	missense	probably benign	0.07
IGL02634:Enpep	APN	3	129309857	missense	probably damaging	1.00
IGL03034:Enpep	APN	3	129298950	missense	probably damaging	0.99
IGL03214:Enpep	APN	3	129293247	missense	probably benign
IGL03401:Enpep	APN	3	129312620	missense	probably benign	0.01
P0041:Enpep	UTSW	3	129332198	missense	possibly damaging	0.80
R0371:Enpep	UTSW	3	129283867	critical splice donor site	probably null
R0479:Enpep	UTSW	3	129312674	missense	possibly damaging	0.65
R1036:Enpep	UTSW	3	129284109	missense	probably damaging	0.99
R1466:Enpep	UTSW	3	129319448	missense	probably damaging	1.00
R1466:Enpep	UTSW	3	129319448	missense	probably damaging	1.00
R1584:Enpep	UTSW	3	129319448	missense	probably damaging	1.00
R2060:Enpep	UTSW	3	129280523	missense	probably benign	0.14
R2101:Enpep	UTSW	3	129298938	missense	probably benign	0.00
R2153:Enpep	UTSW	3	129280582	missense	probably damaging	0.99
R2474:Enpep	UTSW	3	129284158	missense	possibly damaging	0.77
R3618:Enpep	UTSW	3	129284158	missense	possibly damaging	0.77
R3619:Enpep	UTSW	3	129284158	missense	possibly damaging	0.77
R4275:Enpep	UTSW	3	129332278	missense	probably benign	0.02
R4291:Enpep	UTSW	3	129270317	nonsense	probably null
R4438:Enpep	UTSW	3	129284091	missense	possibly damaging	0.94
R4570:Enpep	UTSW	3	129281548	missense	possibly damaging	0.67
R4678:Enpep	UTSW	3	129303713	critical splice donor site	probably null
R4679:Enpep	UTSW	3	129303713	critical splice donor site	probably null
R4748:Enpep	UTSW	3	129332163	missense	probably damaging	1.00
R4954:Enpep	UTSW	3	129284180	missense	probably damaging	0.98
R5074:Enpep	UTSW	3	129303755	missense	probably damaging	1.00
R5261:Enpep	UTSW	3	129305426	missense	probably damaging	1.00
R5328:Enpep	UTSW	3	129280510	missense	probably benign	0.30
R5661:Enpep	UTSW	3	129276757	missense	probably damaging	0.98
R5687:Enpep	UTSW	3	129299094	splice site	probably null
R5695:Enpep	UTSW	3	129309099	missense	probably damaging	1.00
R5697:Enpep	UTSW	3	129309123	missense	probably benign
R5889:Enpep	UTSW	3	129312578	missense	probably damaging	1.00
R5940:Enpep	UTSW	3	129312578	missense	probably damaging	1.00
R5968:Enpep	UTSW	3	129280938	missense	probably benign
R5976:Enpep	UTSW	3	129299124	missense	probably damaging	0.97
R6151:Enpep	UTSW	3	129332418	missense	possibly damaging	0.82
R6367:Enpep	UTSW	3	129332081	missense	possibly damaging	0.94
R6468:Enpep	UTSW	3	129331860	critical splice donor site	probably null
R6484:Enpep	UTSW	3	129321481	missense	probably damaging	0.96
R6938:Enpep	UTSW	3	129298950	missense	probably damaging	0.99
R6989:Enpep	UTSW	3	129280950	missense	probably damaging	1.00
R7073:Enpep	UTSW	3	129312670	nonsense	probably null
R7258:Enpep	UTSW	3	129332075	missense	probably benign	0.01
R7452:Enpep	UTSW	3	129271403	missense	possibly damaging	0.81
R7576:Enpep	UTSW	3	129284091	missense	probably benign	0.03
R7684:Enpep	UTSW	3	129321445	missense	probably damaging	1.00
R7697:Enpep	UTSW	3	129309101	missense	probably damaging	1.00
R8050:Enpep	UTSW	3	129305516	missense	probably damaging	1.00
R8080:Enpep	UTSW	3	129299134	missense	probably damaging	1.00
R8318:Enpep	UTSW	3	129270337	missense	probably damaging	1.00
R8423:Enpep	UTSW	3	129309125	missense	probably damaging	1.00
R8474:Enpep	UTSW	3	129319427	missense	probably damaging	1.00
R8532:Enpep	UTSW	3	129276653	nonsense	probably null
R8826:Enpep	UTSW	3	129271418	missense	probably damaging	0.97
R8884:Enpep	UTSW	3	129321403	missense	possibly damaging	0.88
R8936:Enpep	UTSW	3	129332235	missense	possibly damaging	0.63
R8937:Enpep	UTSW	3	129321358	critical splice donor site	probably null
R8959:Enpep	UTSW	3	129319441	missense	probably damaging	1.00
R9348:Enpep	UTSW	3	129309123	missense	probably benign	0.03
R9375:Enpep	UTSW	3	129331880	missense	probably benign	0.00
Z1177:Enpep	UTSW	3	129276680	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTAAGGTGTGTCAAACAAGGAG -3'
(R):5'- CAGTACTCACCAAAACTAGAGGTTA -3'

Sequencing Primer
(F):5'- GGACAAGAGGCCGTTATCTGATC -3'
(R):5'- TGCATCTATCCCTGAAGAGACTGG -3'

Posted On

2016-03-17