Incidental Mutation 'R2983:Aadacl4'
| ID |
257115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl4
|
| Ensembl Gene |
ENSMUSG00000070609 |
| Gene Name |
arylacetamide deacetylase like 4 |
| Synonyms |
Gm13177 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R2983 (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 144349784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 347
(D347G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094510]
|
| AlphaFold |
B1AVU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094510
AA Change: D347G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: D347G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brwd1 |
T |
C |
16: 95,867,774 (GRCm39) |
K124E |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,975,241 (GRCm39) |
V1607A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,882,250 (GRCm38) |
V317E |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Kmt2c |
AGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTG |
5: 25,520,755 (GRCm39) |
|
probably benign |
Het |
| Ncs1 |
C |
T |
2: 31,174,708 (GRCm39) |
T144I |
probably damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or5k16 |
T |
A |
16: 58,736,930 (GRCm39) |
T25S |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,824,574 (GRCm39) |
S503T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,321,435 (GRCm39) |
S552L |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,789 (GRCm39) |
V1044A |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,792,927 (GRCm39) |
H60R |
probably benign |
Het |
| Rccd1 |
G |
A |
7: 79,970,276 (GRCm39) |
Q114* |
probably null |
Het |
| Speg |
T |
C |
1: 75,361,574 (GRCm39) |
V90A |
possibly damaging |
Het |
| St8sia1 |
A |
G |
6: 142,909,355 (GRCm39) |
V47A |
probably damaging |
Het |
| Tex264 |
A |
G |
9: 106,559,296 (GRCm39) |
I10T |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,596 (GRCm39) |
T4I |
probably benign |
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 |
|
R2353:Aadacl4
|
UTSW |
4 |
144,349,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTCAGCTCTGATAACATTCCTAG -3'
(R):5'- TTCCATGCTCTAAGCCAAAGG -3'
Sequencing Primer
(F):5'- GCTCTGATAACATTCCTAGAAGGTTC -3'
(R):5'- AAGGTGACTGTCATATGCCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation