Incidental Mutation 'R1427:Aadacl4'
| ID |
161351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl4
|
| Ensembl Gene |
ENSMUSG00000070609 |
| Gene Name |
arylacetamide deacetylase like 4 |
| Synonyms |
Gm13177 |
| MMRRC Submission |
039483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144340277-144349968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144349610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 289
(N289S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094510]
|
| AlphaFold |
B1AVU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094510
AA Change: N289S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: N289S
| 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
A |
G |
12: 70,229,193 (GRCm39) |
D223G |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,681,691 (GRCm39) |
T333A |
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Clcnkb |
A |
G |
4: 141,132,620 (GRCm39) |
L603P |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,398 (GRCm39) |
D626G |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,911,225 (GRCm39) |
Y285H |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,893,030 (GRCm39) |
T945A |
probably benign |
Het |
| Iars1 |
A |
T |
13: 49,857,745 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 33,796,124 (GRCm39) |
F1217S |
probably damaging |
Het |
| Lipf |
T |
C |
19: 33,943,000 (GRCm39) |
F103L |
probably damaging |
Het |
| Lpar2 |
C |
A |
8: 70,276,700 (GRCm39) |
A163E |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,110,573 (GRCm39) |
Y1495H |
probably damaging |
Het |
| Or5p63 |
A |
G |
7: 107,811,301 (GRCm39) |
I145T |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,627,675 (GRCm39) |
L413H |
probably damaging |
Het |
| Ptpn7 |
T |
C |
1: 135,062,192 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,378,609 (GRCm39) |
R808C |
probably damaging |
Het |
| Slc25a26 |
T |
C |
6: 94,487,828 (GRCm39) |
S96P |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,969,456 (GRCm39) |
R898W |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,492,255 (GRCm39) |
V1063A |
probably benign |
Het |
| Tm6sf2 |
T |
G |
8: 70,528,232 (GRCm39) |
M127R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,583,448 (GRCm39) |
W22482R |
probably damaging |
Het |
| Zfp384 |
T |
C |
6: 125,001,847 (GRCm39) |
L109P |
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 |
|
R1672:Aadacl4
|
UTSW |
4 |
144,349,889 (GRCm39) |
nonsense |
probably null |
|
|
R2220:Aadacl4
|
UTSW |
4 |
144,344,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2353:Aadacl4
|
UTSW |
4 |
144,349,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAAGTATGCAGGCGATCAATTTCCG -3'
(R):5'- TAGAGCAAGGCATCATCACGCAG -3'
Sequencing Primer
(F):5'- AGGCGATCAATTTCCGCTTAC -3'
(R):5'- CAGGGGGTCATTCTCACAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation