Incidental Mutation 'R2353:Aadacl4'
| ID |
246246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl4
|
| Ensembl Gene |
ENSMUSG00000070609 |
| Gene Name |
arylacetamide deacetylase like 4 |
| Synonyms |
Gm13177 |
| MMRRC Submission |
040335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R2353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144340277-144349968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 144349779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 345
(E345D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094510]
|
| AlphaFold |
B1AVU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094510
AA Change: E345D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: E345D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
60 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
115 |
285 |
9.6e-30 |
PFAM |
|
Pfam:Abhydrolase_3
|
272 |
381 |
4.9e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.5512 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 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 |
| Apeh |
T |
C |
9: 107,963,491 (GRCm39) |
D577G |
possibly damaging |
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 Aadacl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02648:Aadacl4
|
APN |
4 |
144,344,392 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02836:Aadacl4
|
APN |
4 |
144,349,782 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02949:Aadacl4
|
APN |
4 |
144,344,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03253:Aadacl4
|
APN |
4 |
144,349,858 (GRCm39) |
missense |
probably benign |
0.05 |
|
white_rabbit
|
UTSW |
4 |
144,344,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0035:Aadacl4
|
UTSW |
4 |
144,344,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0268:Aadacl4
|
UTSW |
4 |
144,349,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1427:Aadacl4
|
UTSW |
4 |
144,349,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Aadacl4
|
UTSW |
4 |
144,349,889 (GRCm39) |
nonsense |
probably null |
|
|
R2220:Aadacl4
|
UTSW |
4 |
144,344,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2983:Aadacl4
|
UTSW |
4 |
144,349,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4708:Aadacl4
|
UTSW |
4 |
144,349,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4878:Aadacl4
|
UTSW |
4 |
144,340,415 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4911:Aadacl4
|
UTSW |
4 |
144,340,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Aadacl4
|
UTSW |
4 |
144,344,398 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5237:Aadacl4
|
UTSW |
4 |
144,349,850 (GRCm39) |
nonsense |
probably null |
|
|
R5568:Aadacl4
|
UTSW |
4 |
144,349,364 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5633:Aadacl4
|
UTSW |
4 |
144,344,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5817:Aadacl4
|
UTSW |
4 |
144,349,497 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5848:Aadacl4
|
UTSW |
4 |
144,344,428 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5916:Aadacl4
|
UTSW |
4 |
144,349,550 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6736:Aadacl4
|
UTSW |
4 |
144,349,909 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6814:Aadacl4
|
UTSW |
4 |
144,349,750 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6872:Aadacl4
|
UTSW |
4 |
144,349,750 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6971:Aadacl4
|
UTSW |
4 |
144,349,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Aadacl4
|
UTSW |
4 |
144,349,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Aadacl4
|
UTSW |
4 |
144,340,433 (GRCm39) |
missense |
probably benign |
|
|
R7353:Aadacl4
|
UTSW |
4 |
144,344,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Aadacl4
|
UTSW |
4 |
144,344,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Aadacl4
|
UTSW |
4 |
144,344,592 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8120:Aadacl4
|
UTSW |
4 |
144,349,460 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8549:Aadacl4
|
UTSW |
4 |
144,349,726 (GRCm39) |
missense |
probably benign |
|
|
R9043:Aadacl4
|
UTSW |
4 |
144,349,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9661:Aadacl4
|
UTSW |
4 |
144,340,287 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0017:Aadacl4
|
UTSW |
4 |
144,349,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Aadacl4
|
UTSW |
4 |
144,349,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTATAGAAAATGGCTCAGCTC -3'
(R):5'- CAAAGGTGACTGTCATATGCCC -3'
Sequencing Primer
(F):5'- GGCTCAGCTCTGATAACATTCCTAG -3'
(R):5'- ATGCCCTTTATGTAACTGGCAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation