Mutagenetix > Incidental Mutation

Incidental Mutation 'R5968:Enpep'

470691

Institutional Source

Beutler Lab

Gene Symbol

Enpep

Ensembl Gene

ENSMUSG00000028024

Gene Name

glutamyl aminopeptidase

Synonyms

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

MMRRC Submission

043249-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129062824-129126369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129074587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 721 (L721S)

Ref Sequence

ENSEMBL: ENSMUSP00000029658 (fasta)

Gene Model

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

AlphaFold

P16406

Predicted Effect

probably benign
Transcript: ENSMUST00000029658
AA Change: L721S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024
AA Change: L721S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198498

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,077 (GRCm39)	T978A	probably benign	Het
Adcy9	A	G	16: 4,116,606 (GRCm39)	L638P	probably damaging	Het
Adgrf2	A	G	17: 43,026,063 (GRCm39)		probably null	Het
Anxa6	T	C	11: 54,885,167 (GRCm39)	I461V	probably damaging	Het
Arap1	T	C	7: 101,043,945 (GRCm39)	L668P	probably damaging	Het
Ces2e	G	T	8: 105,659,627 (GRCm39)	G498W	probably damaging	Het
Crb1	A	G	1: 139,170,739 (GRCm39)	C823R	probably damaging	Het
Ehmt1	C	T	2: 24,726,469 (GRCm39)	R772H	probably damaging	Het
Flii	T	G	11: 60,611,038 (GRCm39)	I464L	probably benign	Het
Gm57858	T	C	3: 36,064,840 (GRCm39)	Q511R	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Ift172	T	C	5: 31,418,828 (GRCm39)	E1162G	probably damaging	Het
Meioc	A	G	11: 102,566,657 (GRCm39)	S758G	probably damaging	Het
Ndst1	A	C	18: 60,846,148 (GRCm39)	S54A	probably benign	Het
Ndufaf8	G	T	11: 119,990,055 (GRCm39)	E56*	probably null	Het
Ndufb7	A	G	8: 84,293,530 (GRCm39)	D28G	probably benign	Het
Or1e16	T	C	11: 73,286,018 (GRCm39)	M277V	possibly damaging	Het
Or2a25	A	G	6: 42,888,480 (GRCm39)	I8V	probably benign	Het
Prkg1	A	T	19: 30,570,324 (GRCm39)	F443I	probably damaging	Het
Pspc1	C	T	14: 57,001,693 (GRCm39)	R227H	probably benign	Het
Ptpn21	A	G	12: 98,677,149 (GRCm39)	Y120H	probably damaging	Het
Runx1t1	A	T	4: 13,841,890 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,477,394 (GRCm39)	D4449G	probably benign	Het
Sacs	C	A	14: 61,427,078 (GRCm39)	A159E	probably damaging	Het
Slc16a14	T	C	1: 84,890,226 (GRCm39)	I360V	possibly damaging	Het
Tcstv5	T	C	13: 120,411,618 (GRCm39)		probably benign	Het
Thop1	A	G	10: 80,911,393 (GRCm39)	D93G	probably benign	Het
Tmem92	A	C	11: 94,669,564 (GRCm39)	M85R	probably benign	Het
Ttn	T	C	2: 76,688,017 (GRCm39)		probably benign	Het
Zdhhc5	T	C	2: 84,524,719 (GRCm39)		probably null	Het
Zfp335	T	C	2: 164,734,314 (GRCm39)	H1291R	probably damaging	Het
Zfp957	C	T	14: 79,451,496 (GRCm39)	C101Y	probably damaging	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
IGL03034:Enpep	APN	3	129,092,599 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CCCATCTTGCATGCGAATC -3'
(R):5'- TTCCATAGCACTTTGGCAAGC -3'

Sequencing Primer
(F):5'- CATCTTGCATGCGAATCCTAAG -3'
(R):5'- ATAGCACTTTGGCAAGCTGCTTG -3'

Posted On

2017-03-31