Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Enpep'

179359

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enpep

Ensembl Gene

ENSMUSG00000028024

Gene Name

glutamyl aminopeptidase

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01895

Quality Score

Status

Chromosome

Chromosomal Location

129269175-129332720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129270334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 928 (E928G)

Ref Sequence

ENSEMBL: ENSMUSP00000029658 (fasta)

Gene Model

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

AlphaFold

P16406

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029658
AA Change: E928G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: E928G

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

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

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,107	V2279E	possibly damaging	Het
Abcc6	A	T	7: 46,029,058	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,205,373	E321V	possibly damaging	Het
Atp8b3	A	T	10: 80,521,828	V1119D	possibly damaging	Het
Cacna1e	G	T	1: 154,443,900	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,275	W585R	probably damaging	Het
Ccdc113	C	T	8: 95,536,458		probably benign	Het
Ccer1	A	T	10: 97,694,050	I192F	unknown	Het
Chd8	T	C	14: 52,199,094	N90S	probably benign	Het
Clca3a1	A	T	3: 144,747,572	C463*	probably null	Het
Cyp2c65	T	A	19: 39,072,232	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,275,567	Q35R	probably benign	Het
Fem1c	T	C	18: 46,505,562	T458A	probably benign	Het
Fezf2	A	T	14: 12,342,498	*456R	probably null	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14085	A	C	2: 122,525,091	Y588S	possibly damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Iqcm	T	G	8: 75,888,560	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,448,218	V305L	probably benign	Het
Kif1a	G	A	1: 93,025,733	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,833,086	D298G	probably damaging	Het
Lypd8	A	G	11: 58,390,220	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,900,059	V107M	probably damaging	Het
Myo15b	A	G	11: 115,883,498	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,869,101	A459V	possibly damaging	Het
Rbpj	A	G	5: 53,651,386	D285G	probably damaging	Het
Rimbp3	T	C	16: 17,211,436	L908P	probably damaging	Het
Samd4b	T	C	7: 28,401,909		probably null	Het
Stau2	C	T	1: 16,345,937	G401S	probably damaging	Het
Trpa1	A	T	1: 14,887,643	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,375,146	V285G	possibly damaging	Het
Unc5b	A	G	10: 60,767,085	F845S	probably damaging	Het
Vmn1r19	A	T	6: 57,405,260	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,278,965	N228S	probably benign	Het
Vps13d	A	G	4: 145,156,266	F919S	possibly damaging	Het
Zbtb38	C	T	9: 96,688,408	V208I	probably benign	Het
Zfp990	A	T	4: 145,536,857	T142S	probably damaging	Het
Zfp990	C	A	4: 145,536,858	T142N	probably damaging	Het

Other mutations in Enpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Enpep	APN	3	129332082	missense	possibly damaging	0.69
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
R4878:Enpep	UTSW	3	129276771	missense	probably benign	0.17
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

Posted On

2014-05-07