Incidental Mutation 'R6469:Aadacl2'
| ID |
520242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl2
|
| Ensembl Gene |
ENSMUSG00000091376 |
| Gene Name |
arylacetamide deacetylase like 2 |
| Synonyms |
EG639634 |
| MMRRC Submission |
044602-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
59914164-59932841 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59932210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 242
(T242S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169794]
|
| AlphaFold |
B2RWD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169794
AA Change: T242S
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129444
Gene: ENSMUSG00000091376
AA Change: T242S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:COesterase
|
91 |
219 |
2.7e-7 |
PFAM |
|
Pfam:Abhydrolase_3
|
107 |
272 |
8.2e-38 |
PFAM |
|
Pfam:Abhydrolase_3
|
270 |
375 |
3.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195422
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.3%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
G |
3: 137,772,736 (GRCm39) |
S642A |
probably damaging |
Het |
| Adprh |
T |
C |
16: 38,270,671 (GRCm39) |
M45V |
probably benign |
Het |
| Akr1c13 |
T |
C |
13: 4,246,511 (GRCm39) |
|
probably null |
Het |
| Ap3d1 |
A |
C |
10: 80,547,992 (GRCm39) |
V900G |
probably benign |
Het |
| Bak1 |
G |
A |
17: 27,240,293 (GRCm39) |
R125C |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,562,222 (GRCm39) |
T322A |
possibly damaging |
Het |
| Camsap3 |
T |
A |
8: 3,653,941 (GRCm39) |
L521Q |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,575,890 (GRCm39) |
F2157I |
probably damaging |
Het |
| Dcun1d4 |
G |
A |
5: 73,691,957 (GRCm39) |
M155I |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 86,893,974 (GRCm39) |
S12G |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgb |
A |
T |
3: 82,953,449 (GRCm39) |
L107* |
probably null |
Het |
| Ganab |
T |
C |
19: 8,879,996 (GRCm39) |
|
probably null |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,707,828 (GRCm39) |
D60G |
probably benign |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Itih2 |
A |
G |
2: 10,128,224 (GRCm39) |
V159A |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lrch1 |
C |
T |
14: 75,054,525 (GRCm39) |
R323Q |
probably damaging |
Het |
| Lrrc30 |
T |
C |
17: 67,938,860 (GRCm39) |
N240S |
probably benign |
Het |
| Mrgpra9 |
T |
C |
7: 46,884,854 (GRCm39) |
Y271C |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,234,128 (GRCm39) |
H682R |
probably damaging |
Het |
| Or14j4 |
A |
T |
17: 37,921,204 (GRCm39) |
V146E |
probably damaging |
Het |
| Pax9 |
C |
A |
12: 56,743,648 (GRCm39) |
F98L |
probably damaging |
Het |
| Phlpp1 |
G |
A |
1: 106,214,833 (GRCm39) |
R585Q |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,612,939 (GRCm39) |
T3166A |
probably benign |
Het |
| Prr11 |
T |
A |
11: 86,988,003 (GRCm39) |
Q300L |
possibly damaging |
Het |
| Rad50 |
T |
A |
11: 53,575,062 (GRCm39) |
E620D |
probably benign |
Het |
| Rpl3 |
A |
T |
15: 79,967,546 (GRCm39) |
|
probably null |
Het |
| Sacs |
G |
T |
14: 61,428,697 (GRCm39) |
G252V |
probably damaging |
Het |
| Serpina3i |
T |
A |
12: 104,232,776 (GRCm39) |
V227E |
probably damaging |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,339,039 (GRCm39) |
V59A |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,349 (GRCm39) |
W63R |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,561,898 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
C |
T |
7: 41,915,283 (GRCm39) |
Q77* |
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,120,643 (GRCm39) |
H954R |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,757,972 (GRCm39) |
M20V |
probably benign |
Het |
| Zkscan16 |
A |
T |
4: 58,956,483 (GRCm39) |
D255V |
probably damaging |
Het |
|
| Other mutations in Aadacl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Aadacl2
|
APN |
3 |
59,932,097 (GRCm39) |
missense |
probably benign |
|
|
IGL01626:Aadacl2
|
APN |
3 |
59,926,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01777:Aadacl2
|
APN |
3 |
59,932,205 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02189:Aadacl2
|
APN |
3 |
59,932,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03238:Aadacl2
|
APN |
3 |
59,932,339 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0369:Aadacl2
|
UTSW |
3 |
59,932,143 (GRCm39) |
nonsense |
probably null |
|
|
R0540:Aadacl2
|
UTSW |
3 |
59,926,627 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1440:Aadacl2
|
UTSW |
3 |
59,932,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1589:Aadacl2
|
UTSW |
3 |
59,917,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1778:Aadacl2
|
UTSW |
3 |
59,924,871 (GRCm39) |
splice site |
probably null |
|
|
R1781:Aadacl2
|
UTSW |
3 |
59,932,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Aadacl2
|
UTSW |
3 |
59,932,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2411:Aadacl2
|
UTSW |
3 |
59,924,844 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4622:Aadacl2
|
UTSW |
3 |
59,914,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4698:Aadacl2
|
UTSW |
3 |
59,932,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5326:Aadacl2
|
UTSW |
3 |
59,932,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Aadacl2
|
UTSW |
3 |
59,932,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Aadacl2
|
UTSW |
3 |
59,924,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6953:Aadacl2
|
UTSW |
3 |
59,932,181 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7082:Aadacl2
|
UTSW |
3 |
59,932,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Aadacl2
|
UTSW |
3 |
59,932,662 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7967:Aadacl2
|
UTSW |
3 |
59,932,169 (GRCm39) |
missense |
probably benign |
|
|
R8000:Aadacl2
|
UTSW |
3 |
59,924,796 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8731:Aadacl2
|
UTSW |
3 |
59,932,367 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8855:Aadacl2
|
UTSW |
3 |
59,914,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8866:Aadacl2
|
UTSW |
3 |
59,914,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8979:Aadacl2
|
UTSW |
3 |
59,932,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Aadacl2
|
UTSW |
3 |
59,932,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Aadacl2
|
UTSW |
3 |
59,914,472 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTTTATGACAGCACTCTG -3'
(R):5'- AGGCTCAGTGTATACATGGTCC -3'
Sequencing Primer
(F):5'- CAGCACTCTGTAGGTTTGTTAC -3'
(R):5'- CCTTTCTAAACTTGTCAGGGAGAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation