Incidental Mutation 'R2328:Aadacl3'
| ID |
245752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl3
|
| Ensembl Gene |
ENSMUSG00000078507 |
| Gene Name |
arylacetamide deacetylase like 3 |
| Synonyms |
LOC230883 |
| MMRRC Submission |
040319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R2328 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144180341-144190326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144182502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 322
(Y322F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105749]
[ENSMUST00000177649]
|
| AlphaFold |
A2A7Z8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105749
AA Change: Y322F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000101375
Gene: ENSMUSG00000078507
AA Change: Y322F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
116 |
263 |
1.8e-33 |
PFAM |
|
Pfam:Abhydrolase_3
|
302 |
382 |
6.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177649
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,167,347 (GRCm39) |
T1490A |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,735,870 (GRCm39) |
V264A |
possibly damaging |
Het |
| Cggbp1 |
A |
G |
16: 64,676,366 (GRCm39) |
D144G |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,408,891 (GRCm39) |
G1352* |
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,544,739 (GRCm39) |
M457K |
possibly damaging |
Het |
| Dag1 |
T |
C |
9: 108,086,451 (GRCm39) |
N230S |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,055,742 (GRCm39) |
V72A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,850,421 (GRCm39) |
S4218P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,013,718 (GRCm39) |
I3820F |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,419,562 (GRCm39) |
C186Y |
probably damaging |
Het |
| Foxd1 |
T |
C |
13: 98,491,660 (GRCm39) |
I178T |
probably damaging |
Het |
| Gpc5 |
C |
T |
14: 116,025,591 (GRCm39) |
R470W |
probably damaging |
Het |
| Hace1 |
G |
T |
10: 45,525,041 (GRCm39) |
R269L |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 139,058,010 (GRCm39) |
K73* |
probably null |
Het |
| Or10d5j |
A |
G |
9: 39,868,196 (GRCm39) |
F24L |
possibly damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,487,353 (GRCm39) |
I504V |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,911 (GRCm39) |
C93S |
probably damaging |
Het |
| Setx |
TGTGG |
T |
2: 29,044,072 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slamf6 |
G |
A |
1: 171,761,818 (GRCm39) |
V80I |
probably benign |
Het |
| Snapc3 |
T |
A |
4: 83,353,514 (GRCm39) |
Y184* |
probably null |
Het |
| Spg21 |
T |
C |
9: 65,394,155 (GRCm39) |
I284T |
possibly damaging |
Het |
| Tas2r123 |
A |
T |
6: 132,824,279 (GRCm39) |
T59S |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,845,086 (GRCm39) |
*139C |
probably null |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,495 (GRCm39) |
V13A |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Ydjc |
A |
G |
16: 16,964,986 (GRCm39) |
E47G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,122 (GRCm39) |
D86G |
possibly damaging |
Het |
|
| Other mutations in Aadacl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Aadacl3
|
APN |
4 |
144,190,226 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02590:Aadacl3
|
APN |
4 |
144,184,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02629:Aadacl3
|
APN |
4 |
144,190,199 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03308:Aadacl3
|
APN |
4 |
144,182,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0521:Aadacl3
|
UTSW |
4 |
144,182,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Aadacl3
|
UTSW |
4 |
144,190,130 (GRCm39) |
nonsense |
probably null |
|
|
R1203:Aadacl3
|
UTSW |
4 |
144,190,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1701:Aadacl3
|
UTSW |
4 |
144,190,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Aadacl3
|
UTSW |
4 |
144,182,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2077:Aadacl3
|
UTSW |
4 |
144,183,604 (GRCm39) |
unclassified |
probably benign |
|
|
R2226:Aadacl3
|
UTSW |
4 |
144,190,295 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4801:Aadacl3
|
UTSW |
4 |
144,182,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Aadacl3
|
UTSW |
4 |
144,182,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Aadacl3
|
UTSW |
4 |
144,184,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4959:Aadacl3
|
UTSW |
4 |
144,183,656 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5076:Aadacl3
|
UTSW |
4 |
144,182,640 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5766:Aadacl3
|
UTSW |
4 |
144,182,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6643:Aadacl3
|
UTSW |
4 |
144,183,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6973:Aadacl3
|
UTSW |
4 |
144,182,760 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7563:Aadacl3
|
UTSW |
4 |
144,184,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8254:Aadacl3
|
UTSW |
4 |
144,182,760 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8717:Aadacl3
|
UTSW |
4 |
144,182,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Aadacl3
|
UTSW |
4 |
144,182,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9642:Aadacl3
|
UTSW |
4 |
144,182,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATAGTCAAGGGCACTAAGC -3'
(R):5'- TCTGTTGCCACCTAGATGTG -3'
Sequencing Primer
(F):5'- GGGCACTAAGCACTCCATG -3'
(R):5'- CACCTAGATGTGAACATTTCCTGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation