Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Apeh'

46926

Institutional Source

Beutler Lab

Gene Symbol

Apeh

Ensembl Gene

ENSMUSG00000032590

Gene Name

acylpeptide hydrolase

Synonyms

N-acylaminoacyl peptide hydrolase

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108085413-108094606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108087055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 524 (M524T)

Ref Sequence

ENSEMBL: ENSMUSP00000141856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000162886] [ENSMUST00000193254]

AlphaFold

Q8R146

Predicted Effect

probably benign
Transcript: ENSMUST00000035211

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591

Domain	Start	End	E-Value	Type
PAN_AP	21	104	2.65e-9	SMART
KR	108	188	3.13e-39	SMART
KR	189	270	8.57e-46	SMART
KR	290	372	7.94e-41	SMART
KR	377	459	6.59e-47	SMART
Tryp_SPc	488	709	2.27e-55	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000081309
AA Change: M507T

SMART Domains

Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
AA Change: M507T

Domain	Start	End	E-Value	Type
Pfam:DLH	485	721	2e-8	PFAM
Pfam:Abhydrolase_1	501	633	3.8e-9	PFAM
Pfam:Abhydrolase_5	501	708	5e-16	PFAM
Pfam:Peptidase_S9	516	732	1.6e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159372

Predicted Effect

probably benign
Transcript: ENSMUST00000160184

Predicted Effect

probably benign
Transcript: ENSMUST00000160249

SMART Domains

Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161253

Predicted Effect

probably benign
Transcript: ENSMUST00000162886

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591

Domain	Start	End	E-Value	Type
PAN_AP	21	104	2.65e-9	SMART
KR	108	188	3.13e-39	SMART
KR	189	270	1.07e-46	SMART
KR	281	363	7.94e-41	SMART
KR	368	450	6.59e-47	SMART
Tryp_SPc	479	700	2.27e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192916

Predicted Effect

probably benign
Transcript: ENSMUST00000193254
AA Change: M524T

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

SMART Domains

Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
AA Change: M524T

Domain	Start	End	E-Value	Type
Pfam:DLH	485	721	4.8e-8	PFAM
Pfam:Abhydrolase_5	501	708	5.7e-16	PFAM
Pfam:Abhydrolase_6	503	714	6.2e-14	PFAM
Pfam:Peptidase_S9	515	732	1.4e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194915

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071		probably null	Het
A630095E13Rik	A	T	9: 36,638,577		probably null	Het
Abca13	G	T	11: 9,294,559	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458		probably benign	Het
Adam3	A	T	8: 24,695,315	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571		probably benign	Het
Anapc4	A	G	5: 52,842,017		probably benign	Het
Ank3	A	T	10: 69,882,368	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059		probably benign	Het
Ankrd13b	T	A	11: 77,473,288	T150S	possibly damaging	Het
Arl14epl	T	A	18: 46,926,417		probably null	Het
Atg2a	T	C	19: 6,252,539	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218		probably benign	Het
Bbof1	T	A	12: 84,430,271	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843		probably null	Het
C130079G13Rik	A	G	3: 59,936,350	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333		probably null	Het
Csmd1	C	T	8: 15,932,529	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038		probably benign	Het
Dach1	A	T	14: 97,901,329	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980		probably benign	Het
Fam184a	G	T	10: 53,698,879	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945		probably benign	Het
Gm9047	G	T	6: 29,478,170		probably benign	Het
Haus5	A	T	7: 30,659,067	I294N	probably damaging	Het
Hmgcr	G	T	13: 96,660,143		probably null	Het
Hr	T	A	14: 70,561,912	C641*	probably null	Het
Itga10	A	G	3: 96,658,174	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607		probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267	T299A	probably benign	Het
Med25	A	G	7: 44,885,078		probably null	Het
Mpg	A	T	11: 32,230,039	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716	G629D	possibly damaging	Het
Nwd1	G	A	8: 72,682,005	C831Y	probably damaging	Het
Olfr1094	A	G	2: 86,829,606	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851	I111T	probably damaging	Het
P2ry14	A	G	3: 59,116,028	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715		probably benign	Het
Pclo	A	G	5: 14,678,285		probably benign	Het
Pclo	T	C	5: 14,679,398		probably benign	Het
Pcnt	A	T	10: 76,404,595	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216		probably benign	Het
Ptbp2	T	G	3: 119,720,964	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069		probably benign	Het
Rbm6	G	A	9: 107,847,289	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Robo1	T	C	16: 73,013,125		probably null	Het
Samd12	G	A	15: 53,860,171	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	G	A	2: 62,286,862	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860		probably benign	Het
Smg6	T	A	11: 74,929,058	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984		probably null	Het
Sugp1	A	G	8: 70,059,363	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440		probably benign	Het
Vmn2r55	C	T	7: 12,671,018	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660	I1023T	possibly damaging	Het

Other mutations in Apeh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Apeh	APN	9	108086207	missense	probably benign
IGL02232:Apeh	APN	9	108091872	missense	probably benign	0.02
IGL02563:Apeh	APN	9	108093709	missense	possibly damaging	0.85
IGL02713:Apeh	APN	9	108085672	missense	probably damaging	1.00
IGL02794:Apeh	APN	9	108092010	missense	possibly damaging	0.94
IGL03355:Apeh	APN	9	108086445	missense	probably benign	0.00
R6807_Apeh_606	UTSW	9	108092679	missense	probably damaging	1.00
R1221:Apeh	UTSW	9	108092609	missense	probably benign
R1574:Apeh	UTSW	9	108092726	splice site	probably null
R1863:Apeh	UTSW	9	108092103	missense	possibly damaging	0.91
R2126:Apeh	UTSW	9	108085667	missense	probably damaging	1.00
R2353:Apeh	UTSW	9	108086292	missense	possibly damaging	0.84
R4930:Apeh	UTSW	9	108087825	missense	probably benign
R5156:Apeh	UTSW	9	108094287	missense	probably damaging	1.00
R5278:Apeh	UTSW	9	108091258	missense	probably benign	0.08
R5366:Apeh	UTSW	9	108091806	missense	probably benign	0.01
R5384:Apeh	UTSW	9	108086463	missense	probably damaging	1.00
R5940:Apeh	UTSW	9	108091899	splice site	probably null
R6102:Apeh	UTSW	9	108086439	missense	probably damaging	1.00
R6300:Apeh	UTSW	9	108092679	missense	probably damaging	1.00
R6368:Apeh	UTSW	9	108087243	missense	probably damaging	1.00
R6807:Apeh	UTSW	9	108092679	missense	probably damaging	1.00
R6809:Apeh	UTSW	9	108092679	missense	probably damaging	1.00
R6817:Apeh	UTSW	9	108092679	missense	probably damaging	1.00
R6828:Apeh	UTSW	9	108087038	missense	probably damaging	1.00
R6866:Apeh	UTSW	9	108092679	missense	probably damaging	1.00
R7034:Apeh	UTSW	9	108094271	missense	possibly damaging	0.70
R7036:Apeh	UTSW	9	108094271	missense	possibly damaging	0.70
R7139:Apeh	UTSW	9	108092146	missense	probably damaging	1.00
R8024:Apeh	UTSW	9	108092591	missense	probably benign	0.20
R8289:Apeh	UTSW	9	108086245	missense	probably damaging	0.99
R8731:Apeh	UTSW	9	108087223	missense	probably benign
R8957:Apeh	UTSW	9	108092373	missense	probably benign	0.21
R9055:Apeh	UTSW	9	108085846	missense	possibly damaging	0.64
R9569:Apeh	UTSW	9	108094410	missense	unknown
R9695:Apeh	UTSW	9	108086284	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCAGGTTATGAAGCCAGAGGCTAC -3'
(R):5'- AGCAACTCTCCAGATAAGAGCCAGG -3'

Sequencing Primer
(F):5'- actcaaaactccacctgcc -3'
(R):5'- AGATAAGAGCCAGGTCCCC -3'

Posted On

2013-06-11