Mutagenetix > Incidental Mutation

Incidental Mutation 'R5384:Apeh'

424944

Institutional Source

Beutler Lab

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 #

R5384 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107962613-107971736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107963662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 551 (L551H)

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: L534H

SMART Domains

Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
AA Change: L534H

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

probably damaging
Transcript: ENSMUST00000193254
AA Change: L551H

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

SMART Domains

Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
AA Change: L551H

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: ENSMUST00000194083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194915

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,496 (GRCm39)	V246A	probably benign	Het
Abcc10	T	C	17: 46,615,361 (GRCm39)	S1343G	possibly damaging	Het
Abcd3	C	A	3: 121,555,059 (GRCm39)		probably null	Het
Actl6a	T	A	3: 32,774,642 (GRCm39)	M335K	probably damaging	Het
Adamts9	A	C	6: 92,774,999 (GRCm39)	C1090W	probably damaging	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,667,325 (GRCm39)	N316Y	possibly damaging	Het
Ankhd1	A	G	18: 36,724,548 (GRCm39)	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,639,340 (GRCm39)		probably benign	Het
Avpr1a	T	A	10: 122,285,274 (GRCm39)	F189I	probably damaging	Het
BC034090	T	A	1: 155,117,773 (GRCm39)	H115L	possibly damaging	Het
C4b	A	T	17: 34,956,635 (GRCm39)	D654E	possibly damaging	Het
Carns1	T	A	19: 4,221,900 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,513,711 (GRCm39)	E469V	probably benign	Het
Cdc27	A	G	11: 104,397,966 (GRCm39)	I804T	probably benign	Het
Cdh23	G	A	10: 60,173,541 (GRCm39)	T1651I	probably damaging	Het
Cenpo	G	A	12: 4,266,646 (GRCm39)	P154L	probably damaging	Het
Cenpu	G	A	8: 47,015,534 (GRCm39)	G150R	probably benign	Het
Chrna10	C	A	7: 101,763,560 (GRCm39)	L78F	probably damaging	Het
Chrne	A	T	11: 70,505,913 (GRCm39)	N457K	possibly damaging	Het
Cidea	A	T	18: 67,493,236 (GRCm39)	D85V	probably damaging	Het
Cldn18	T	C	9: 99,591,911 (GRCm39)	S31G	possibly damaging	Het
Clpb	T	A	7: 101,428,548 (GRCm39)	I436N	probably damaging	Het
Col11a2	T	C	17: 34,278,148 (GRCm39)		probably null	Het
Cul7	T	C	17: 46,965,403 (GRCm39)	V527A	probably benign	Het
Dchs1	A	C	7: 105,407,236 (GRCm39)	V2119G	probably damaging	Het
Dchs1	T	A	7: 105,421,262 (GRCm39)	D386V	probably damaging	Het
Dcstamp	A	C	15: 39,622,715 (GRCm39)	Q345H	probably damaging	Het
Dlgap3	A	G	4: 127,130,123 (GRCm39)	I955V	probably damaging	Het
Dvl1	A	G	4: 155,938,143 (GRCm39)	D97G	probably damaging	Het
Dync2h1	T	C	9: 7,016,791 (GRCm39)	D3573G	probably damaging	Het
Efr3b	G	T	12: 4,033,419 (GRCm39)	F129L	probably benign	Het
Etaa1	G	A	11: 17,897,539 (GRCm39)	L193F	probably damaging	Het
Fam13c	G	A	10: 70,388,899 (GRCm39)	S474N	probably benign	Het
Fam171a2	C	A	11: 102,328,693 (GRCm39)	V689L	possibly damaging	Het
Fastkd3	T	C	13: 68,732,704 (GRCm39)	F342L	probably benign	Het
Fat4	T	C	3: 39,050,095 (GRCm39)	S3986P	possibly damaging	Het
Fbxo38	A	G	18: 62,674,042 (GRCm39)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,904,329 (GRCm39)	L160F	possibly damaging	Het
Fgr	G	A	4: 132,713,664 (GRCm39)		probably null	Het
Gbx2	T	C	1: 89,856,635 (GRCm39)	T252A	probably damaging	Het
Gm20671	A	G	5: 32,977,286 (GRCm39)	S1823P	probably damaging	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gsdma	A	T	11: 98,557,275 (GRCm39)		probably null	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hdac9	A	G	12: 34,479,557 (GRCm39)	Y223H	probably damaging	Het
Igsf5	C	A	16: 96,192,226 (GRCm39)	T275N	probably benign	Het
Il23r	G	A	6: 67,463,275 (GRCm39)	H73Y	probably benign	Het
Ipo4	G	T	14: 55,863,653 (GRCm39)	R1026S	probably benign	Het
Jade1	T	A	3: 41,546,137 (GRCm39)	I54N	probably damaging	Het
Khdrbs1	G	T	4: 129,635,729 (GRCm39)	D75E	possibly damaging	Het
Lrwd1	A	T	5: 136,152,728 (GRCm39)	D511E	possibly damaging	Het
Ly75	A	T	2: 60,164,831 (GRCm39)	C782*	probably null	Het
Mmp3	C	T	9: 7,451,759 (GRCm39)	R366*	probably null	Het
Mrgpra6	A	G	7: 46,838,629 (GRCm39)	C190R	probably damaging	Het
Mtcl3	A	G	10: 29,072,766 (GRCm39)	D686G	probably benign	Het
Myh10	T	A	11: 68,692,434 (GRCm39)	L1369Q	probably damaging	Het
Myof	C	T	19: 37,941,435 (GRCm39)	A792T	probably damaging	Het
Ncf1	A	G	5: 134,250,659 (GRCm39)	L373P	probably damaging	Het
Ncoa7	C	A	10: 30,598,813 (GRCm39)	A37S	probably benign	Het
Nfkb1	A	G	3: 135,318,303 (GRCm39)	V310A	possibly damaging	Het
Nmur2	T	A	11: 55,931,040 (GRCm39)	I224F	probably damaging	Het
Nr1d2	A	T	14: 18,211,922 (GRCm38)	S394T	probably benign	Het
Nudt12	A	G	17: 59,310,434 (GRCm39)	W390R	probably damaging	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or2m13	A	G	16: 19,226,547 (GRCm39)	L73P	probably damaging	Het
Or4a79	T	A	2: 89,551,649 (GRCm39)	I269F	possibly damaging	Het
Or4e1	T	A	14: 52,700,714 (GRCm39)	T251S	probably benign	Het
Or52a20	T	C	7: 103,366,562 (GRCm39)	F254L	probably benign	Het
Pate2	A	G	9: 35,581,837 (GRCm39)	M44V	probably damaging	Het
Pikfyve	T	C	1: 65,283,568 (GRCm39)	L735S	probably damaging	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pld1	C	A	3: 28,079,469 (GRCm39)	R90S	probably damaging	Het
Pnpla7	C	A	2: 24,931,031 (GRCm39)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Ppm1d	A	G	11: 85,202,609 (GRCm39)	E104G	probably damaging	Het
Ppm1e	A	T	11: 87,249,377 (GRCm39)	L118Q	possibly damaging	Het
Ppp1r42	A	G	1: 10,069,660 (GRCm39)	L134P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Prss36	C	A	7: 127,535,871 (GRCm39)	R288L	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Psma3	G	T	12: 71,021,539 (GRCm39)	G7W	probably damaging	Het
Psmc3ip	A	T	11: 100,983,430 (GRCm39)		probably null	Het
Qser1	T	C	2: 104,616,987 (GRCm39)	E1275G	probably damaging	Het
Rai2	A	G	X: 160,561,636 (GRCm39)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,169,241 (GRCm39)	V991D	possibly damaging	Het
Rcc2	A	T	4: 140,447,877 (GRCm39)	K468*	probably null	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sec1	C	A	7: 45,328,264 (GRCm39)	R261L	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Homo
Sgip1	G	A	4: 102,791,763 (GRCm39)	V362I	possibly damaging	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc12a9	A	T	5: 137,329,276 (GRCm39)	L126Q	probably damaging	Het
Slx4	A	G	16: 3,808,669 (GRCm39)	S424P	probably damaging	Het
Smg5	T	C	3: 88,258,600 (GRCm39)	S524P	probably damaging	Het
Sncaip	A	G	18: 53,018,113 (GRCm39)	D418G	probably damaging	Het
Spata31d1b	C	A	13: 59,866,032 (GRCm39)	T1060K	possibly damaging	Het
Spink6	A	G	18: 44,215,347 (GRCm39)	T66A	probably damaging	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stk39	T	A	2: 68,240,383 (GRCm39)	D116V	probably damaging	Het
Supv3l1	A	T	10: 62,266,375 (GRCm39)	N600K	possibly damaging	Het
Svep1	T	C	4: 58,104,545 (GRCm39)	K1226R	possibly damaging	Het
Syne1	C	T	10: 4,991,494 (GRCm39)	V557I	probably benign	Het
Tas2r117	G	T	6: 132,780,117 (GRCm39)	S85I	probably benign	Het
Tcf20	T	A	15: 82,740,400 (GRCm39)	Q350H	probably damaging	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tfb2m	A	C	1: 179,373,437 (GRCm39)		probably null	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tpd52	A	T	3: 8,996,255 (GRCm39)		probably null	Het
Trappc8	A	T	18: 20,966,119 (GRCm39)		probably null	Het
Trbv30	A	G	6: 41,258,854 (GRCm39)	T88A	probably benign	Het
Trim40	T	A	17: 37,199,757 (GRCm39)	N107I	probably damaging	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Ttn	A	G	2: 76,708,692 (GRCm39)		probably benign	Het
Vav3	A	G	3: 109,434,791 (GRCm39)	M441V	possibly damaging	Het
Vmn1r42	T	A	6: 89,822,366 (GRCm39)	I68F	probably damaging	Het
Vmn2r118	C	T	17: 55,918,565 (GRCm39)	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,416,931 (GRCm39)	M76L	probably benign	Het
Vwa7	G	T	17: 35,243,902 (GRCm39)		probably null	Het
Xndc1	T	C	7: 101,731,395 (GRCm39)	V378A	probably benign	Het
Zc3h12d	A	T	10: 7,729,014 (GRCm39)	D126V	probably damaging	Het
Zc3h13	A	G	14: 75,581,059 (GRCm39)	N1682S	probably benign	Het
Zc3h15	T	C	2: 83,490,574 (GRCm39)	I236T	possibly damaging	Het
Zfp13	A	T	17: 23,800,156 (GRCm39)	I34N	probably damaging	Het
Zfp169	A	T	13: 48,643,751 (GRCm39)	C459S	possibly damaging	Het
Zfyve28	A	G	5: 34,374,311 (GRCm39)	C568R	probably damaging	Het

Other mutations in Apeh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Apeh	APN	9	107,963,406 (GRCm39)	missense	probably benign
IGL02232:Apeh	APN	9	107,969,071 (GRCm39)	missense	probably benign	0.02
IGL02563:Apeh	APN	9	107,970,908 (GRCm39)	missense	possibly damaging	0.85
IGL02713:Apeh	APN	9	107,962,871 (GRCm39)	missense	probably damaging	1.00
IGL02794:Apeh	APN	9	107,969,209 (GRCm39)	missense	possibly damaging	0.94
IGL03355:Apeh	APN	9	107,963,644 (GRCm39)	missense	probably benign	0.00
R6807_Apeh_606	UTSW	9	107,969,878 (GRCm39)	missense	probably damaging	1.00
R0511:Apeh	UTSW	9	107,964,254 (GRCm39)	missense	probably benign
R1221:Apeh	UTSW	9	107,969,808 (GRCm39)	missense	probably benign
R1574:Apeh	UTSW	9	107,969,925 (GRCm39)	splice site	probably null
R1863:Apeh	UTSW	9	107,969,302 (GRCm39)	missense	possibly damaging	0.91
R2126:Apeh	UTSW	9	107,962,866 (GRCm39)	missense	probably damaging	1.00
R2353:Apeh	UTSW	9	107,963,491 (GRCm39)	missense	possibly damaging	0.84
R4930:Apeh	UTSW	9	107,965,024 (GRCm39)	missense	probably benign
R5156:Apeh	UTSW	9	107,971,486 (GRCm39)	missense	probably damaging	1.00
R5278:Apeh	UTSW	9	107,968,457 (GRCm39)	missense	probably benign	0.08
R5366:Apeh	UTSW	9	107,969,005 (GRCm39)	missense	probably benign	0.01
R5940:Apeh	UTSW	9	107,969,098 (GRCm39)	splice site	probably null
R6102:Apeh	UTSW	9	107,963,638 (GRCm39)	missense	probably damaging	1.00
R6300:Apeh	UTSW	9	107,969,878 (GRCm39)	missense	probably damaging	1.00
R6368:Apeh	UTSW	9	107,964,442 (GRCm39)	missense	probably damaging	1.00
R6807:Apeh	UTSW	9	107,969,878 (GRCm39)	missense	probably damaging	1.00
R6809:Apeh	UTSW	9	107,969,878 (GRCm39)	missense	probably damaging	1.00
R6817:Apeh	UTSW	9	107,969,878 (GRCm39)	missense	probably damaging	1.00
R6828:Apeh	UTSW	9	107,964,237 (GRCm39)	missense	probably damaging	1.00
R6866:Apeh	UTSW	9	107,969,878 (GRCm39)	missense	probably damaging	1.00
R7034:Apeh	UTSW	9	107,971,470 (GRCm39)	missense	possibly damaging	0.70
R7036:Apeh	UTSW	9	107,971,470 (GRCm39)	missense	possibly damaging	0.70
R7139:Apeh	UTSW	9	107,969,345 (GRCm39)	missense	probably damaging	1.00
R8024:Apeh	UTSW	9	107,969,790 (GRCm39)	missense	probably benign	0.20
R8289:Apeh	UTSW	9	107,963,444 (GRCm39)	missense	probably damaging	0.99
R8731:Apeh	UTSW	9	107,964,422 (GRCm39)	missense	probably benign
R8957:Apeh	UTSW	9	107,969,572 (GRCm39)	missense	probably benign	0.21
R9055:Apeh	UTSW	9	107,963,045 (GRCm39)	missense	possibly damaging	0.64
R9569:Apeh	UTSW	9	107,971,609 (GRCm39)	missense	unknown
R9695:Apeh	UTSW	9	107,963,483 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAAAGTGTTCCTCCTGGAGC -3'
(R):5'- GATTAACTTGAAGCTTCCCTGG -3'

Sequencing Primer
(F):5'- GTTCCTCCTGGAGCACCTG -3'
(R):5'- CTTGAAGCTTCCCTGGAAAGG -3'

Posted On

2016-08-04