Incidental Mutation 'R2353:Apeh'
| ID |
246261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apeh
|
| Ensembl Gene |
ENSMUSG00000032590 |
| Gene Name |
acylpeptide hydrolase |
| Synonyms |
N-acylaminoacyl peptide hydrolase |
| MMRRC Submission |
040335-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107962613-107971736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107963491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 577
(D577G)
|
| 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: D560G
|
| SMART Domains |
Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590
AA Change: D560G
| 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 |
possibly damaging
Transcript: ENSMUST00000193254
AA Change: D577G
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590
AA Change: D577G
| 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: ENSMUST00000191754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192916
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194915
|
| Meta Mutation Damage Score |
0.4799 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
T |
4: 144,349,779 (GRCm39) |
E345D |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,742,537 (GRCm39) |
Q692L |
probably benign |
Het |
| Ankk1 |
A |
C |
9: 49,329,990 (GRCm39) |
C322G |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
A |
1: 139,405,435 (GRCm39) |
W1441R |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd163 |
G |
T |
6: 124,296,115 (GRCm39) |
E820* |
probably null |
Het |
| Cd38 |
T |
A |
5: 44,065,353 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Enpp1 |
C |
A |
10: 24,527,239 (GRCm39) |
Q649H |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,954,046 (GRCm39) |
R86S |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,233,909 (GRCm39) |
|
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,229,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1 |
A |
T |
5: 135,441,566 (GRCm39) |
V568E |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,512,213 (GRCm39) |
|
probably null |
Het |
| Lrrc4 |
A |
G |
6: 28,831,451 (GRCm39) |
F55L |
probably benign |
Het |
| Med31 |
T |
A |
11: 72,104,966 (GRCm39) |
N35I |
probably damaging |
Het |
| Msi1 |
C |
A |
5: 115,574,568 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,660 (GRCm39) |
I179M |
probably benign |
Het |
| Or4b1 |
A |
T |
2: 89,980,062 (GRCm39) |
L96Q |
probably damaging |
Het |
| Parl |
T |
C |
16: 20,105,790 (GRCm39) |
T211A |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,350,090 (GRCm39) |
I432V |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,467,753 (GRCm39) |
I796F |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,886,951 (GRCm39) |
E380V |
probably damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,842,895 (GRCm39) |
D287G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,450,780 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,160,984 (GRCm39) |
I2493T |
possibly damaging |
Het |
| Uts2 |
T |
A |
4: 151,084,593 (GRCm39) |
|
probably null |
Het |
| Zfp109 |
T |
C |
7: 23,928,806 (GRCm39) |
D201G |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,578,005 (GRCm39) |
F1036S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,170 (GRCm39) |
E685G |
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 |
|
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 |
|
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'- AAGGCAGGGACCTTTAATGC -3'
(R):5'- TTAGTGAACTATCGTGGTTCCAC -3'
Sequencing Primer
(F):5'- GCAGGGACCTTTAATGCACACTC -3'
(R):5'- GCTTTGGCCAAGACAGCATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation