Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Apeh'

546539

Institutional Source

Beutler Lab

Gene Symbol

Apeh

Ensembl Gene

ENSMUSG00000032590

Gene Name

acylpeptide hydrolase

Synonyms

N-acylaminoacyl peptide hydrolase

MMRRC Submission

045135-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107962613-107971736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107971470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 59 (E59G)

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

SMART Domains

Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
AA Change: E32G

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

possibly damaging
Transcript: ENSMUST00000191985
AA Change: E59G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142150
Gene: ENSMUSG00000032590
AA Change: E59G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000193254
AA Change: E34G

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
AA Change: E34G

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,634 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,299,236 (GRCm39)	K979E	probably damaging	Het
Aftph	A	T	11: 20,642,498 (GRCm39)	M845K	probably damaging	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543 (GRCm39)	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,749,703 (GRCm39)	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,410,951 (GRCm39)	M105K	probably benign	Het
Ccna1	T	C	3: 54,953,460 (GRCm39)	E381G	possibly damaging	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cdkl3	A	G	11: 51,918,042 (GRCm39)	E415G	probably benign	Het
Chd5	C	A	4: 152,445,398 (GRCm39)	L430I	possibly damaging	Het
Clspn	G	A	4: 126,474,775 (GRCm39)	E975K	possibly damaging	Het
Cobl	C	A	11: 12,204,177 (GRCm39)	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,022,883 (GRCm39)	R1037L	probably damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dhrs9	T	G	2: 69,223,520 (GRCm39)	N89K	probably benign	Het
Erich1	A	G	8: 14,114,330 (GRCm39)	I60T	probably benign	Het
Fam184a	A	T	10: 53,570,910 (GRCm39)	S408T	possibly damaging	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Foxj3	A	G	4: 119,476,497 (GRCm39)	E259G	probably damaging	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Gck	A	G	11: 5,851,747 (GRCm39)	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,288,065 (GRCm39)	V98F	probably damaging	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
H2ac21	C	T	3: 96,127,304 (GRCm39)	Q25*	probably null	Het
Herc3	A	T	6: 58,853,840 (GRCm39)	M629L	probably benign	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Mllt11	A	G	3: 95,127,744 (GRCm39)	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Mug1	A	G	6: 121,850,603 (GRCm39)	T700A	probably benign	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Myo18b	G	A	5: 112,871,770 (GRCm39)	Q2104*	probably null	Het
Nalf1	G	A	8: 9,820,589 (GRCm39)	P144S	possibly damaging	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Nwd2	A	T	5: 63,962,258 (GRCm39)	N614I	probably damaging	Het
Or6c88	G	A	10: 129,406,941 (GRCm39)	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcnx2	T	C	8: 126,512,041 (GRCm39)	T1422A	probably damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,322,453 (GRCm39)	T149A	probably damaging	Het
Ppl	A	G	16: 4,905,366 (GRCm39)	V1643A	probably benign	Het
Pramel23	A	T	4: 143,423,898 (GRCm39)	I297N	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rbm33	T	C	5: 28,599,496 (GRCm39)	M956T	unknown	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Scai	T	A	2: 39,011,147 (GRCm39)	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,379,868 (GRCm39)	H988L	probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Skint4	A	T	4: 112,015,281 (GRCm39)	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,074,653 (GRCm39)	I88V	possibly damaging	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdfy3	G	A	5: 102,055,384 (GRCm39)	T1562I	probably damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	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
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
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'- CACACCTTCAACTCATTTACGG -3'
(R):5'- GCTACCGAAAGACCGACTATGG -3'

Sequencing Primer
(F):5'- GCTAGTGCAGCCCCCAAAAC -3'
(R):5'- ACCGACTATGGAGCGTCAG -3'

Posted On

2019-05-13