Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03034:Enpep'

408576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enpep

Ensembl Gene

ENSMUSG00000028024

Gene Name

glutamyl aminopeptidase

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03034

Quality Score

Status

Chromosome

Chromosomal Location

129062824-129126369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129092599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 528 (D528G)

Ref Sequence

ENSEMBL: ENSMUSP00000029658 (fasta)

Gene Model

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

AlphaFold

P16406

Predicted Effect

probably damaging
Transcript: ENSMUST00000029658
AA Change: D528G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: D528G

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: ENSMUST00000165217

Predicted Effect

SMART Domains

Protein: ENSMUSP00000129759
Gene: ENSMUSG00000028024
AA Change: D104G

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000128872
Gene: ENSMUSG00000028024
AA Change: D455G

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530401A14Rik	C	T	11: 81,780,908 (GRCm39)		probably benign	Het
Ablim2	A	G	5: 35,985,509 (GRCm39)	T269A	probably benign	Het
Asgr2	G	T	11: 69,989,089 (GRCm39)	G178W	probably damaging	Het
Chtf18	A	G	17: 25,946,320 (GRCm39)		probably benign	Het
Cnmd	C	T	14: 79,879,368 (GRCm39)	A257T	probably benign	Het
Cox7a1	A	G	7: 29,884,693 (GRCm39)		probably benign	Het
Cpox	C	T	16: 58,495,718 (GRCm39)	T345M	probably damaging	Het
Crisp1	T	C	17: 40,618,619 (GRCm39)	T81A	probably benign	Het
Dcc	T	A	18: 71,708,214 (GRCm39)	R501*	probably null	Het
Dlx6	A	C	6: 6,863,807 (GRCm39)	Q143P	probably benign	Het
Dpp10	T	A	1: 123,269,348 (GRCm39)	Y687F	probably damaging	Het
Eif2b1	A	G	5: 124,709,894 (GRCm39)	V228A	probably benign	Het
Fbxo6	G	A	4: 148,230,579 (GRCm39)	Q228*	probably null	Het
Iars1	T	A	13: 49,843,965 (GRCm39)	N146K	possibly damaging	Het
Kctd9	T	A	14: 67,971,728 (GRCm39)	S268T	probably benign	Het
Kifap3	G	A	1: 163,715,846 (GRCm39)	V749M	probably benign	Het
Mdm4	T	C	1: 132,938,809 (GRCm39)	D94G	probably damaging	Het
Mllt10	T	G	2: 18,069,847 (GRCm39)	M1R	probably null	Het
Mtcl1	T	C	17: 66,651,193 (GRCm39)	Y1424C	probably damaging	Het
Mybpc2	A	T	7: 44,161,321 (GRCm39)	I549N	possibly damaging	Het
Myocd	T	C	11: 65,109,511 (GRCm39)	T87A	probably benign	Het
Nr3c2	T	G	8: 77,914,267 (GRCm39)	Y824*	probably null	Het
Omg	T	A	11: 79,392,947 (GRCm39)	T304S	possibly damaging	Het
Or4b1	A	G	2: 89,980,177 (GRCm39)	Y58H	probably damaging	Het
Or52p2	G	A	7: 102,237,147 (GRCm39)	H268Y	probably benign	Het
Or5an1b	T	C	19: 12,300,018 (GRCm39)	T58A	possibly damaging	Het
Or5b97	T	C	19: 12,879,121 (GRCm39)	T8A	possibly damaging	Het
Or6c2	A	T	10: 129,362,527 (GRCm39)	I144F	probably benign	Het
Pde3a	G	A	6: 141,438,126 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,469,252 (GRCm39)	K129E	probably damaging	Het
Phka2	G	T	X: 159,360,546 (GRCm39)	E858*	probably null	Het
Pp2d1	T	C	17: 53,815,081 (GRCm39)	T548A	possibly damaging	Het
Prr14l	G	A	5: 32,984,782 (GRCm39)	A1571V	possibly damaging	Het
Rbms3	A	G	9: 117,080,879 (GRCm39)		probably benign	Het
Sparcl1	T	C	5: 104,241,103 (GRCm39)	E107G	probably damaging	Het
Stra6l	A	G	4: 45,885,392 (GRCm39)	D620G	probably benign	Het
Traf3ip2	A	T	10: 39,502,215 (GRCm39)	K121I	probably damaging	Het
Ttc34	T	C	4: 154,945,640 (GRCm39)	S734P	probably damaging	Het
Zfp953	C	T	13: 67,491,526 (GRCm39)	C142Y	probably damaging	Het
Zfp955b	T	A	17: 33,521,142 (GRCm39)	C204S	probably benign	Het

Other mutations in Enpep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Enpep	APN	3	129,125,731 (GRCm39)	missense	possibly damaging	0.69
IGL01895:Enpep	APN	3	129,063,983 (GRCm39)	missense	possibly damaging	0.89
IGL02193:Enpep	APN	3	129,075,336 (GRCm39)	missense	possibly damaging	0.46
IGL02215:Enpep	APN	3	129,063,926 (GRCm39)	splice site	probably benign
IGL02511:Enpep	APN	3	129,115,059 (GRCm39)	missense	probably damaging	1.00
IGL02579:Enpep	APN	3	129,077,739 (GRCm39)	missense	probably benign	0.07
IGL02634:Enpep	APN	3	129,103,506 (GRCm39)	missense	probably damaging	1.00
IGL03214:Enpep	APN	3	129,086,896 (GRCm39)	missense	probably benign
IGL03401:Enpep	APN	3	129,106,269 (GRCm39)	missense	probably benign	0.01
P0041:Enpep	UTSW	3	129,125,847 (GRCm39)	missense	possibly damaging	0.80
R0371:Enpep	UTSW	3	129,077,516 (GRCm39)	critical splice donor site	probably null
R0479:Enpep	UTSW	3	129,106,323 (GRCm39)	missense	possibly damaging	0.65
R1036:Enpep	UTSW	3	129,077,758 (GRCm39)	missense	probably damaging	0.99
R1466:Enpep	UTSW	3	129,113,097 (GRCm39)	missense	probably damaging	1.00
R1466:Enpep	UTSW	3	129,113,097 (GRCm39)	missense	probably damaging	1.00
R1584:Enpep	UTSW	3	129,113,097 (GRCm39)	missense	probably damaging	1.00
R2060:Enpep	UTSW	3	129,074,172 (GRCm39)	missense	probably benign	0.14
R2101:Enpep	UTSW	3	129,092,587 (GRCm39)	missense	probably benign	0.00
R2153:Enpep	UTSW	3	129,074,231 (GRCm39)	missense	probably damaging	0.99
R2474:Enpep	UTSW	3	129,077,807 (GRCm39)	missense	possibly damaging	0.77
R3618:Enpep	UTSW	3	129,077,807 (GRCm39)	missense	possibly damaging	0.77
R3619:Enpep	UTSW	3	129,077,807 (GRCm39)	missense	possibly damaging	0.77
R4275:Enpep	UTSW	3	129,125,927 (GRCm39)	missense	probably benign	0.02
R4291:Enpep	UTSW	3	129,063,966 (GRCm39)	nonsense	probably null
R4438:Enpep	UTSW	3	129,077,740 (GRCm39)	missense	possibly damaging	0.94
R4570:Enpep	UTSW	3	129,075,197 (GRCm39)	missense	possibly damaging	0.67
R4678:Enpep	UTSW	3	129,097,362 (GRCm39)	critical splice donor site	probably null
R4679:Enpep	UTSW	3	129,097,362 (GRCm39)	critical splice donor site	probably null
R4748:Enpep	UTSW	3	129,125,812 (GRCm39)	missense	probably damaging	1.00
R4878:Enpep	UTSW	3	129,070,420 (GRCm39)	missense	probably benign	0.17
R4954:Enpep	UTSW	3	129,077,829 (GRCm39)	missense	probably damaging	0.98
R5074:Enpep	UTSW	3	129,097,404 (GRCm39)	missense	probably damaging	1.00
R5261:Enpep	UTSW	3	129,099,075 (GRCm39)	missense	probably damaging	1.00
R5328:Enpep	UTSW	3	129,074,159 (GRCm39)	missense	probably benign	0.30
R5661:Enpep	UTSW	3	129,070,406 (GRCm39)	missense	probably damaging	0.98
R5687:Enpep	UTSW	3	129,092,743 (GRCm39)	splice site	probably null
R5695:Enpep	UTSW	3	129,102,748 (GRCm39)	missense	probably damaging	1.00
R5697:Enpep	UTSW	3	129,102,772 (GRCm39)	missense	probably benign
R5889:Enpep	UTSW	3	129,106,227 (GRCm39)	missense	probably damaging	1.00
R5940:Enpep	UTSW	3	129,106,227 (GRCm39)	missense	probably damaging	1.00
R5968:Enpep	UTSW	3	129,074,587 (GRCm39)	missense	probably benign
R5976:Enpep	UTSW	3	129,092,773 (GRCm39)	missense	probably damaging	0.97
R6151:Enpep	UTSW	3	129,126,067 (GRCm39)	missense	possibly damaging	0.82
R6367:Enpep	UTSW	3	129,125,730 (GRCm39)	missense	possibly damaging	0.94
R6468:Enpep	UTSW	3	129,125,509 (GRCm39)	critical splice donor site	probably null
R6484:Enpep	UTSW	3	129,115,130 (GRCm39)	missense	probably damaging	0.96
R6938:Enpep	UTSW	3	129,092,599 (GRCm39)	missense	probably damaging	0.99
R6989:Enpep	UTSW	3	129,074,599 (GRCm39)	missense	probably damaging	1.00
R7073:Enpep	UTSW	3	129,106,319 (GRCm39)	nonsense	probably null
R7258:Enpep	UTSW	3	129,125,724 (GRCm39)	missense	probably benign	0.01
R7452:Enpep	UTSW	3	129,065,052 (GRCm39)	missense	possibly damaging	0.81
R7576:Enpep	UTSW	3	129,077,740 (GRCm39)	missense	probably benign	0.03
R7684:Enpep	UTSW	3	129,115,094 (GRCm39)	missense	probably damaging	1.00
R7697:Enpep	UTSW	3	129,102,750 (GRCm39)	missense	probably damaging	1.00
R8050:Enpep	UTSW	3	129,099,165 (GRCm39)	missense	probably damaging	1.00
R8080:Enpep	UTSW	3	129,092,783 (GRCm39)	missense	probably damaging	1.00
R8318:Enpep	UTSW	3	129,063,986 (GRCm39)	missense	probably damaging	1.00
R8423:Enpep	UTSW	3	129,102,774 (GRCm39)	missense	probably damaging	1.00
R8474:Enpep	UTSW	3	129,113,076 (GRCm39)	missense	probably damaging	1.00
R8532:Enpep	UTSW	3	129,070,302 (GRCm39)	nonsense	probably null
R8826:Enpep	UTSW	3	129,065,067 (GRCm39)	missense	probably damaging	0.97
R8884:Enpep	UTSW	3	129,115,052 (GRCm39)	missense	possibly damaging	0.88
R8936:Enpep	UTSW	3	129,125,884 (GRCm39)	missense	possibly damaging	0.63
R8937:Enpep	UTSW	3	129,115,007 (GRCm39)	critical splice donor site	probably null
R8959:Enpep	UTSW	3	129,113,090 (GRCm39)	missense	probably damaging	1.00
R9348:Enpep	UTSW	3	129,102,772 (GRCm39)	missense	probably benign	0.03
R9375:Enpep	UTSW	3	129,125,529 (GRCm39)	missense	probably benign	0.00
Z1177:Enpep	UTSW	3	129,070,329 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02