Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Apeh'

304656

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apeh

Ensembl Gene

ENSMUSG00000032590

Gene Name

acylpeptide hydrolase

Synonyms

N-acylaminoacyl peptide hydrolase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

108085413-108094606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108085672 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 700 (L700Q)

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

probably damaging
Transcript: ENSMUST00000081309
AA Change: L683Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
AA Change: L683Q

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: ENSMUST00000184227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192916

Predicted Effect

probably damaging
Transcript: ENSMUST00000193254
AA Change: L700Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
AA Change: L700Q

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

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably 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
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
R0511:Apeh	UTSW	9	108087055	missense	probably benign
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

Posted On

2015-04-16