Incidental Mutation 'R3008:Aadacl2fm2'
| ID |
257433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl2fm2
|
| Ensembl Gene |
ENSMUSG00000090527 |
| Gene Name |
AADACL2 family member 2 |
| Synonyms |
Gm5538 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R3008 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59637211-59659754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59652930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 123
(L123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168156]
|
| AlphaFold |
W4VSP6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168156
AA Change: L123P
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: L123P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF2424
|
70 |
214 |
9.3e-9 |
PFAM |
|
Pfam:COesterase
|
91 |
236 |
5.4e-10 |
PFAM |
|
Pfam:Abhydrolase_3
|
107 |
287 |
6.6e-36 |
PFAM |
|
Pfam:Abhydrolase_3
|
271 |
375 |
1.4e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
C |
4: 155,990,139 (GRCm39) |
I773T |
probably benign |
Het |
| Atm |
A |
C |
9: 53,392,050 (GRCm39) |
F1780V |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cldn19 |
T |
G |
4: 119,112,987 (GRCm39) |
L73R |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,666,204 (GRCm39) |
Y1078C |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Gm10277 |
T |
A |
11: 77,676,362 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,966,627 (GRCm39) |
D285E |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,704 (GRCm39) |
Y99N |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,071 (GRCm39) |
L107Q |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,005,476 (GRCm39) |
D347G |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,798,396 (GRCm39) |
|
probably benign |
Het |
| Mme |
T |
A |
3: 63,266,378 (GRCm39) |
N551K |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Muc2 |
A |
T |
7: 141,281,347 (GRCm39) |
H475L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or8s10 |
G |
A |
15: 98,335,857 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pdp2 |
T |
A |
8: 105,320,898 (GRCm39) |
I249N |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,693,652 (GRCm39) |
G714V |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,174,160 (GRCm39) |
T882I |
possibly damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,031,089 (GRCm39) |
S398P |
probably benign |
Het |
|
| Other mutations in Aadacl2fm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Aadacl2fm2
|
APN |
3 |
59,659,542 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00934:Aadacl2fm2
|
APN |
3 |
59,659,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02335:Aadacl2fm2
|
APN |
3 |
59,651,026 (GRCm39) |
missense |
probably benign |
|
|
IGL02709:Aadacl2fm2
|
APN |
3 |
59,654,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Aadacl2fm2
|
APN |
3 |
59,651,144 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0107:Aadacl2fm2
|
UTSW |
3 |
59,659,737 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0591:Aadacl2fm2
|
UTSW |
3 |
59,659,550 (GRCm39) |
nonsense |
probably null |
|
|
R0850:Aadacl2fm2
|
UTSW |
3 |
59,659,669 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1127:Aadacl2fm2
|
UTSW |
3 |
59,659,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1916:Aadacl2fm2
|
UTSW |
3 |
59,652,924 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3921:Aadacl2fm2
|
UTSW |
3 |
59,659,498 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4368:Aadacl2fm2
|
UTSW |
3 |
59,659,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Aadacl2fm2
|
UTSW |
3 |
59,659,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5268:Aadacl2fm2
|
UTSW |
3 |
59,659,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5511:Aadacl2fm2
|
UTSW |
3 |
59,654,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Aadacl2fm2
|
UTSW |
3 |
59,659,513 (GRCm39) |
missense |
probably benign |
|
|
R5812:Aadacl2fm2
|
UTSW |
3 |
59,654,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5981:Aadacl2fm2
|
UTSW |
3 |
59,659,299 (GRCm39) |
missense |
probably benign |
|
|
R6049:Aadacl2fm2
|
UTSW |
3 |
59,659,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Aadacl2fm2
|
UTSW |
3 |
59,659,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6353:Aadacl2fm2
|
UTSW |
3 |
59,659,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Aadacl2fm2
|
UTSW |
3 |
59,652,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Aadacl2fm2
|
UTSW |
3 |
59,659,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Aadacl2fm2
|
UTSW |
3 |
59,651,037 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7585:Aadacl2fm2
|
UTSW |
3 |
59,651,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7827:Aadacl2fm2
|
UTSW |
3 |
59,651,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7844:Aadacl2fm2
|
UTSW |
3 |
59,637,318 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8308:Aadacl2fm2
|
UTSW |
3 |
59,659,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8830:Aadacl2fm2
|
UTSW |
3 |
59,654,744 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9447:Aadacl2fm2
|
UTSW |
3 |
59,651,051 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9557:Aadacl2fm2
|
UTSW |
3 |
59,659,160 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Aadacl2fm2
|
UTSW |
3 |
59,654,615 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGCAAATACAACAAGGTTCTCC -3'
(R):5'- ATCCAAACAAGTTTCCAGCCTTTTC -3'
Sequencing Primer
(F):5'- ACAACAAGGTTCTCCCATTGTG -3'
(R):5'- GTCTGGAAGGGCTATGAT -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation