Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Apeh'

721849

Institutional Source

Beutler Lab

Gene Symbol

Apeh

Ensembl Gene

ENSMUSG00000032590

Gene Name

acylpeptide hydrolase

Synonyms

N-acylaminoacyl peptide hydrolase

MMRRC Submission

068966-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107962613-107971736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107971609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 13 (V13M)

Ref Sequence

ENSEMBL: ENSMUSP00000142150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035208] [ENSMUST00000191985] [ENSMUST00000193254]

AlphaFold

Q8R146

Predicted Effect

probably benign
Transcript: ENSMUST00000035208

SMART Domains

Protein: ENSMUSP00000035208
Gene: ENSMUSG00000032589

Domain	Start	End	E-Value	Type
low complexity region	4	40	N/A	INTRINSIC
low complexity region	42	77	N/A	INTRINSIC
Pfam:zf-piccolo	165	223	6.1e-30	PFAM
low complexity region	394	409	N/A	INTRINSIC
low complexity region	445	454	N/A	INTRINSIC
Pfam:zf-piccolo	462	520	5.2e-31	PFAM
low complexity region	527	540	N/A	INTRINSIC
low complexity region	627	643	N/A	INTRINSIC
low complexity region	664	681	N/A	INTRINSIC
low complexity region	694	708	N/A	INTRINSIC
low complexity region	788	803	N/A	INTRINSIC
low complexity region	994	1021	N/A	INTRINSIC
coiled coil region	1047	1101	N/A	INTRINSIC
low complexity region	1131	1145	N/A	INTRINSIC
low complexity region	1173	1190	N/A	INTRINSIC
low complexity region	1209	1220	N/A	INTRINSIC
low complexity region	1333	1343	N/A	INTRINSIC
low complexity region	1443	1455	N/A	INTRINSIC
low complexity region	1481	1498	N/A	INTRINSIC
low complexity region	1790	1800	N/A	INTRINSIC
low complexity region	2117	2126	N/A	INTRINSIC
low complexity region	2287	2303	N/A	INTRINSIC
low complexity region	2326	2356	N/A	INTRINSIC
SCOP:d1eq1a_	2362	2477	2e-7	SMART
low complexity region	2607	2614	N/A	INTRINSIC
low complexity region	2635	2651	N/A	INTRINSIC
low complexity region	2655	2672	N/A	INTRINSIC
coiled coil region	2949	2990	N/A	INTRINSIC
low complexity region	3057	3071	N/A	INTRINSIC
low complexity region	3089	3114	N/A	INTRINSIC
low complexity region	3446	3461	N/A	INTRINSIC
low complexity region	3520	3534	N/A	INTRINSIC
low complexity region	3653	3666	N/A	INTRINSIC
low complexity region	3750	3820	N/A	INTRINSIC
low complexity region	3831	3852	N/A	INTRINSIC
low complexity region	3856	3901	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081309

SMART Domains

Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590

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: ENSMUST00000124763

Predicted Effect

unknown
Transcript: ENSMUST00000191985
AA Change: V13M

SMART Domains

Protein: ENSMUSP00000142150
Gene: ENSMUSG00000032590
AA Change: V13M

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193254

SMART Domains

Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,503,763 (GRCm39)	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,256,701 (GRCm39)	V690A	possibly damaging	Het
Apba2	T	C	7: 64,393,138 (GRCm39)	M553T	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,601,933 (GRCm39)	T177I	probably damaging	Het
Bltp1	T	C	3: 37,066,770 (GRCm39)	M211T		Het
Bub1b	T	C	2: 118,468,884 (GRCm39)	I883T	probably damaging	Het
C9	T	C	15: 6,489,062 (GRCm39)	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,485 (GRCm39)	I64N	probably benign	Het
Cd180	A	T	13: 102,842,486 (GRCm39)	I511F	possibly damaging	Het
Cic	T	C	7: 24,972,120 (GRCm39)	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,513,075 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,759,979 (GRCm39)	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,387,852 (GRCm39)	E422D	probably benign	Het
Depdc5	A	T	5: 33,025,321 (GRCm39)	D21V	probably damaging	Het
Dis3l	A	G	9: 64,236,829 (GRCm39)	F40S	unknown	Het
Duox1	T	C	2: 122,148,971 (GRCm39)	V82A	probably benign	Het
Dus2	T	C	8: 106,771,507 (GRCm39)	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,251,316 (GRCm39)	S326N	probably benign	Het
Fat3	A	C	9: 15,830,495 (GRCm39)	L153R		Het
Gpx8	C	T	13: 113,182,125 (GRCm39)	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 89,001,948 (GRCm39)	D268G	probably benign	Het
Hc	T	C	2: 34,926,359 (GRCm39)	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,879,878 (GRCm39)	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,314,209 (GRCm39)	D77A		Het
Igfbp1	A	G	11: 7,147,881 (GRCm39)		probably benign	Het
Kdm3a	T	C	6: 71,584,434 (GRCm39)	D559G	probably benign	Het
Kif2a	A	G	13: 107,105,246 (GRCm39)	I565T	probably benign	Het
Krt1c	T	C	15: 101,724,924 (GRCm39)	T229A	probably damaging	Het
Lcmt2	G	A	2: 120,970,522 (GRCm39)	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,217,599 (GRCm39)	M241T	probably benign	Het
Mup15	T	C	4: 61,357,875 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,811,629 (GRCm39)	V1912A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Net1	A	G	13: 3,938,518 (GRCm39)	F123S	probably benign	Het
Or1j8	T	C	2: 36,191,946 (GRCm39)	Y132H	probably damaging	Het
Or52n2	C	T	7: 104,542,525 (GRCm39)	M103I	possibly damaging	Het
Or5h17	A	G	16: 58,820,228 (GRCm39)	Y60C	probably damaging	Het
Pcdhb13	T	C	18: 37,576,153 (GRCm39)	F177S	probably damaging	Het
Pclo	T	C	5: 14,907,065 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,039 (GRCm39)	T528A	probably benign	Het
Pik3c2a	C	T	7: 115,957,939 (GRCm39)	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Psd	A	T	19: 46,308,717 (GRCm39)	C639S	possibly damaging	Het
Rffl	T	A	11: 82,703,264 (GRCm39)	T220S	probably benign	Het
Scn2a	A	G	2: 65,560,622 (GRCm39)	D1284G	probably damaging	Het
Scube1	T	C	15: 83,513,605 (GRCm39)	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,026,324 (GRCm39)	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,819,460 (GRCm39)	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,834,030 (GRCm39)	T343A	probably benign	Het
Slc7a4	A	G	16: 17,393,262 (GRCm39)	V179A		Het
Sox14	T	G	9: 99,757,562 (GRCm39)	D49A		Het
Spata31g1	G	C	4: 42,971,740 (GRCm39)	V358L	probably benign	Het
Timm22	A	G	11: 76,298,196 (GRCm39)	S56G	probably benign	Het
Tmub2	G	A	11: 102,179,153 (GRCm39)	W322*	probably null	Het
Tsc22d4	A	G	5: 137,756,428 (GRCm39)	T8A	probably benign	Het
Ttn	T	C	2: 76,539,652 (GRCm39)	I34445V	probably benign	Het
Tyms	A	T	5: 30,268,360 (GRCm39)	Y196*	probably null	Het
Ube2o	G	A	11: 116,434,823 (GRCm39)	T546M	probably damaging	Het
Umodl1	A	G	17: 31,217,143 (GRCm39)	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unk	A	T	11: 115,950,035 (GRCm39)	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,306,294 (GRCm39)	E232G	probably benign	Het
Vps41	A	G	13: 19,013,396 (GRCm39)	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,215,980 (GRCm39)	M800V	probably benign	Het
Wt1	T	A	2: 104,993,711 (GRCm39)	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,341,242 (GRCm39)	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,906,140 (GRCm39)	M1001T	possibly damaging	Het
Yeats2	A	T	16: 19,972,902 (GRCm39)	R19W	probably damaging	Het
Zfp142	T	C	1: 74,615,386 (GRCm39)	T476A	probably damaging	Het
Zfp229	T	C	17: 21,964,573 (GRCm39)	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,388,971 (GRCm39)	F50S	probably damaging	Het
Zfp975	A	T	7: 42,311,413 (GRCm39)	M400K	probably benign	Het
Zkscan5	A	G	5: 145,144,419 (GRCm39)	M150V	probably benign	Het
Znfx1	T	A	2: 166,897,875 (GRCm39)	I350F		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
R5384:Apeh	UTSW	9	107,963,662 (GRCm39)	missense	probably damaging	1.00
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
R9695:Apeh	UTSW	9	107,963,483 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAACTACAGTTGGGTTTCCTCC -3'
(R):5'- ACTGGCCGGAGCTTATACAG -3'

Sequencing Primer
(F):5'- ACCAGTGTGCACAGTCCGATAG -3'
(R):5'- CGGAGCTTATACAGGGCCC -3'

Posted On

2022-08-09