Mutagenetix > Incidental Mutation

Incidental Mutation 'R4679:Enpep'

349902

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

041932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129062824-129126369 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 129097362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029658 (fasta)

Gene Model

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

AlphaFold

P16406

Predicted Effect

probably null
Transcript: ENSMUST00000029658

SMART Domains

Protein: ENSMUSP00000029658
Gene: ENSMUSG00000028024

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

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

0.9478

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,670,140 (GRCm39)	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,216,867 (GRCm39)	V450A	probably benign	Het
Abcg1	A	T	17: 31,333,235 (GRCm39)	R659S	probably benign	Het
Acad9	A	T	3: 36,142,989 (GRCm39)	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,037,881 (GRCm39)	C393S	probably damaging	Het
Adcy7	T	C	8: 89,044,565 (GRCm39)	V486A	probably benign	Het
Adgrf1	G	T	17: 43,621,384 (GRCm39)	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Arhgap27	G	T	11: 103,251,775 (GRCm39)		probably benign	Het
Armc5	A	T	7: 127,839,276 (GRCm39)	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955 (GRCm39)	K742M	probably benign	Het
Atp9a	T	G	2: 168,503,884 (GRCm39)	T603P	possibly damaging	Het
Bsn	A	G	9: 107,987,329 (GRCm39)	S2808P	unknown	Het
C9orf72	C	T	4: 35,226,033 (GRCm39)		probably benign	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccl17	C	G	8: 95,537,128 (GRCm39)	T10S	probably benign	Het
Cdc123	A	T	2: 5,849,703 (GRCm39)	V6D	probably damaging	Het
Cdca2	T	C	14: 67,952,415 (GRCm39)	K14E	possibly damaging	Het
Cdh3	C	A	8: 107,266,488 (GRCm39)	T302K	probably damaging	Het
Cdh9	A	G	15: 16,851,045 (GRCm39)	M605V	probably benign	Het
Cdk4	A	G	10: 126,900,780 (GRCm39)	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,471,001 (GRCm39)	A879V	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,536 (GRCm39)	D518G	probably benign	Het
Cog1	C	T	11: 113,543,116 (GRCm39)	A208V	probably damaging	Het
Col4a2	T	A	8: 11,481,337 (GRCm39)	H836Q	possibly damaging	Het
Copb1	T	C	7: 113,848,211 (GRCm39)	D108G	probably damaging	Het
Csmd3	A	T	15: 48,024,479 (GRCm39)	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,335,571 (GRCm39)	H164Q	probably benign	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Het
Fam110d	A	G	4: 133,978,747 (GRCm39)	S244P	probably damaging	Het
Fbln7	A	G	2: 128,736,806 (GRCm39)	Y311C	probably damaging	Het
Fign	A	C	2: 63,809,605 (GRCm39)	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,502,032 (GRCm39)		probably benign	Het
Fmn2	T	C	1: 174,330,728 (GRCm39)	S373P	unknown	Het
Frmd4b	C	T	6: 97,272,627 (GRCm39)	D868N	possibly damaging	Het
Garin3	T	A	11: 46,295,640 (GRCm39)	M4K	possibly damaging	Het
Gfpt2	A	G	11: 49,714,564 (GRCm39)	N321S	probably benign	Het
Glmn	G	T	5: 107,708,941 (GRCm39)	T372K	probably damaging	Het
Gm26602	C	T	10: 79,746,808 (GRCm39)		probably benign	Het
Gm6797	A	G	X: 8,505,933 (GRCm39)		noncoding transcript	Het
Gpat3	T	A	5: 101,041,322 (GRCm39)	F383L	probably damaging	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,793,551 (GRCm39)	H268Y	probably benign	Het
Hectd4	G	T	5: 121,463,314 (GRCm39)	C2345F	possibly damaging	Het
Htt	A	G	5: 34,977,424 (GRCm39)	D770G	probably benign	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,321,907 (GRCm39)	F608L	probably benign	Het
Irak1	A	C	X: 73,065,995 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Lag3	T	A	6: 124,881,508 (GRCm39)	Q488L	possibly damaging	Het
Large2	A	T	2: 92,197,903 (GRCm39)	L266Q	probably benign	Het
Lrp3	T	G	7: 34,903,365 (GRCm39)	D327A	probably damaging	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Mettl14	G	A	3: 123,163,063 (GRCm39)		probably benign	Het
Miga1	A	G	3: 152,028,112 (GRCm39)	V139A	probably damaging	Het
Mthfd2l	A	C	5: 91,096,770 (GRCm39)	R130S	probably benign	Het
Myo1b	A	G	1: 51,797,132 (GRCm39)	I970T	possibly damaging	Het
Nat10	C	A	2: 103,562,515 (GRCm39)	W607L	probably damaging	Het
Nop56	A	G	2: 130,120,193 (GRCm39)	T183A	probably benign	Het
Or10h1	A	G	17: 33,418,367 (GRCm39)	H115R	probably benign	Het
Or2d4	A	T	7: 106,544,152 (GRCm39)	S19T	probably benign	Het
Or4c10	A	G	2: 89,761,008 (GRCm39)	Y285C	possibly damaging	Het
Or4d1	T	A	11: 87,805,136 (GRCm39)	M199L	probably benign	Het
Or52j3	A	G	7: 102,836,309 (GRCm39)	Y167C	probably benign	Het
Or5ae2	T	A	7: 84,506,112 (GRCm39)	Y178*	probably null	Het
Pcdhb12	T	C	18: 37,570,002 (GRCm39)	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plscr2	T	G	9: 92,169,823 (GRCm39)	L91R	probably benign	Het
Plxnc1	T	A	10: 94,630,306 (GRCm39)	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,483,493 (GRCm39)	N166I	probably damaging	Het
Ripor1	T	A	8: 106,344,417 (GRCm39)	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,839,255 (GRCm39)	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin14	T	C	5: 129,770,090 (GRCm39)	D202G	possibly damaging	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,138,948 (GRCm39)	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,171,107 (GRCm39)	Y927F	probably benign	Het
Spats2	T	G	15: 99,078,603 (GRCm39)	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,829,778 (GRCm39)		probably null	Het
T2	A	G	17: 8,609,848 (GRCm39)	E99G	possibly damaging	Het
Taf3	G	A	2: 10,053,375 (GRCm39)		probably benign	Het
Tnfsf10	A	T	3: 27,389,728 (GRCm39)	N263I	probably damaging	Het
Treml2	A	T	17: 48,615,203 (GRCm39)	R229S	probably benign	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Ttc9	G	T	12: 81,678,375 (GRCm39)	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,535,251 (GRCm39)		noncoding transcript	Het
Zfp932	A	T	5: 110,157,760 (GRCm39)	H486L	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
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

Predicted Primers

PCR Primer
(F):5'- TTGAATTTCCCCATGACATTTCTGG -3'
(R):5'- ATCTTCAGAAACGCTGGAACAC -3'

Sequencing Primer
(F):5'- GAAATGTAGAGCCTTAACTTGACG -3'
(R):5'- CGCTGGAACACAATCATGAAATGTTG -3'

Posted On

2015-10-08