Mutagenetix > Incidental Mutation

Incidental Mutation 'R5366:Apeh'

429351

Institutional Source

Beutler Lab

Gene Symbol

Apeh

Ensembl Gene

ENSMUSG00000032590

Gene Name

acylpeptide hydrolase

Synonyms

N-acylaminoacyl peptide hydrolase

MMRRC Submission

042944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107962613-107971736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107969005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 321 (S321T)

Ref Sequence

ENSEMBL: ENSMUSP00000141856 (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

unknown
Transcript: ENSMUST00000081309
AA Change: S319T

SMART Domains

Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
AA Change: S319T

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

noncoding transcript
Transcript: ENSMUST00000191754

Predicted Effect

probably benign
Transcript: ENSMUST00000191985

SMART Domains

Protein: ENSMUSP00000142150
Gene: ENSMUSG00000032590

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192278

Predicted Effect

probably benign
Transcript: ENSMUST00000193254
AA Change: S321T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
AA Change: S321T

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: ENSMUST00000194915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194083

Meta Mutation Damage Score

0.0687

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,831,665 (GRCm39)	N1229S	possibly damaging	Het
Adgre1	G	A	17: 57,709,817 (GRCm39)	C158Y	probably benign	Het
Ahnak	T	A	19: 8,994,099 (GRCm39)	S5128T	possibly damaging	Het
Ankrd36	T	A	11: 5,542,841 (GRCm39)	C322*	probably null	Het
Ano1	T	A	7: 144,207,946 (GRCm39)	T113S	possibly damaging	Het
Atg4d	T	A	9: 21,179,948 (GRCm39)	V273D	probably damaging	Het
Cacna2d4	A	G	6: 119,251,279 (GRCm39)	D489G	probably damaging	Het
Cd47	T	C	16: 49,716,736 (GRCm39)	F256L	probably damaging	Het
Cd84	A	T	1: 171,700,872 (GRCm39)	D211V	probably damaging	Het
Cfap46	A	G	7: 139,230,802 (GRCm39)	L942P	probably damaging	Het
Cfh	A	C	1: 140,063,973 (GRCm39)	C434W	probably damaging	Het
Chst2	T	C	9: 95,287,518 (GRCm39)	D276G	probably damaging	Het
Ctsq	T	C	13: 61,184,913 (GRCm39)	T258A	probably benign	Het
Degs1	C	A	1: 182,106,927 (GRCm39)	D111Y	probably benign	Het
Dhps	T	A	8: 85,801,413 (GRCm39)	D313E	probably damaging	Het
Dipk1c	T	A	18: 84,748,720 (GRCm39)	L106Q	probably damaging	Het
Dock9	A	G	14: 121,815,615 (GRCm39)	C1645R	probably damaging	Het
Efcab7	A	C	4: 99,761,931 (GRCm39)	D407A	possibly damaging	Het
Eif3a	G	T	19: 60,767,971 (GRCm39)	T189N	probably benign	Het
Ep300	T	A	15: 81,500,301 (GRCm39)	L57M	probably benign	Het
Exoc6b	T	A	6: 84,867,513 (GRCm39)	I300L	probably benign	Het
Fzd8	T	C	18: 9,213,880 (GRCm39)	S321P	probably damaging	Het
Garre1	A	T	7: 33,941,713 (GRCm39)	M657K	possibly damaging	Het
Gm9920	T	A	15: 54,975,705 (GRCm39)		probably benign	Het
Gucy2c	A	G	6: 136,697,739 (GRCm39)	I668T	probably damaging	Het
Irgc	C	T	7: 24,132,851 (GRCm39)		probably benign	Het
Jsrp1	G	T	10: 80,646,030 (GRCm39)	S143*	probably null	Het
Kctd4	T	C	14: 76,200,259 (GRCm39)	Y77H	probably damaging	Het
Klhdc1	T	A	12: 69,329,924 (GRCm39)	I351N	probably damaging	Het
Klra17	C	T	6: 129,851,858 (GRCm39)	E5K	possibly damaging	Het
Mapk8	A	T	14: 33,112,686 (GRCm39)	V211E	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrc1	T	C	2: 14,326,725 (GRCm39)	Y1208H	probably benign	Het
Mrps16	A	T	14: 20,441,523 (GRCm39)	S94T	probably benign	Het
Muc5ac	A	G	7: 141,361,287 (GRCm39)	T1533A	probably benign	Het
Myh10	A	T	11: 68,651,518 (GRCm39)	D287V	probably damaging	Het
Obscn	T	C	11: 58,971,086 (GRCm39)	T2476A	probably damaging	Het
Olfm2	T	A	9: 20,579,708 (GRCm39)	T356S	probably benign	Het
Or4f60	T	C	2: 111,902,823 (GRCm39)	Y35C	possibly damaging	Het
P2rx2	T	A	5: 110,489,694 (GRCm39)	N108I	probably damaging	Het
Pbx4	A	T	8: 70,322,820 (GRCm39)	T309S	probably benign	Het
Phyhip	C	A	14: 70,704,295 (GRCm39)	H171Q	probably benign	Het
Pou4f3	A	G	18: 42,528,819 (GRCm39)	E254G	probably damaging	Het
Pxdn	C	A	12: 30,052,899 (GRCm39)	H845Q	probably damaging	Het
Rgcc	T	C	14: 79,529,123 (GRCm39)	T111A	probably benign	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sgsm1	C	A	5: 113,398,905 (GRCm39)	E722D	possibly damaging	Het
Soat1	A	T	1: 156,272,181 (GRCm39)	D101E	probably benign	Het
Spag5	T	A	11: 78,211,152 (GRCm39)		probably null	Het
Spata31	A	T	13: 65,068,273 (GRCm39)	E140D	probably damaging	Het
Srrm2	T	A	17: 24,037,678 (GRCm39)	S1537T	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tbc1d4	G	T	14: 101,845,412 (GRCm39)	T162K	possibly damaging	Het
Tmem163	A	C	1: 127,428,042 (GRCm39)		probably benign	Het
Tmem43	T	C	6: 91,455,240 (GRCm39)	V72A	probably benign	Het
Tmprss11c	G	A	5: 86,429,993 (GRCm39)	T24I	possibly damaging	Het
Trerf1	A	T	17: 47,626,116 (GRCm39)		noncoding transcript	Het
Trim44	A	G	2: 102,230,476 (GRCm39)	L185P	probably damaging	Het
Tspyl1	A	G	10: 34,158,341 (GRCm39)	D22G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyro3	G	A	2: 119,635,312 (GRCm39)	R201Q	probably damaging	Het
Ubxn2a	T	A	12: 4,930,741 (GRCm39)	K206N	probably benign	Het
Usp17lb	G	T	7: 104,489,615 (GRCm39)	H436Q	possibly damaging	Het
Vps9d1	A	G	8: 123,971,853 (GRCm39)	I584T	possibly damaging	Het
Vrk1	T	A	12: 106,022,078 (GRCm39)	M131K	possibly damaging	Het
Wdr87-ps	A	C	7: 29,232,964 (GRCm39)		noncoding transcript	Het
Zfp827	A	T	8: 79,912,333 (GRCm39)	K986N	possibly damaging	Het
Zswim4	A	G	8: 84,939,419 (GRCm39)	M821T	probably benign	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
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
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'- TGAGAGTACCCAAGCTTCCAG -3'
(R):5'- TCAGCCCTGTACTATGTGGACC -3'

Sequencing Primer
(F):5'- GGACTTACCTTGAAGGGTCAGGC -3'
(R):5'- CCTGTACTATGTGGACCTGAGC -3'

Posted On

2016-09-06