Incidental Mutation 'IGL00426:Aadacl2fm2'
| ID |
11018 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00426
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
59637211-59659754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59659542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 332
(L332I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168156]
|
| AlphaFold |
W4VSP6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168156
AA Change: L332I
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: L332I
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 11,818,278 (GRCm39) |
E313K |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,571,244 (GRCm39) |
V130A |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,124,785 (GRCm39) |
A499V |
probably benign |
Het |
| Ceacam18 |
C |
T |
7: 43,288,780 (GRCm39) |
T177I |
probably benign |
Het |
| Cspp1 |
G |
A |
1: 10,182,776 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
A |
T |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,115,750 (GRCm39) |
|
probably null |
Het |
| Dip2c |
T |
C |
13: 9,656,551 (GRCm39) |
F821L |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,808,006 (GRCm39) |
R85* |
probably null |
Het |
| Mcf2l |
A |
G |
8: 13,034,910 (GRCm39) |
D106G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,214 (GRCm39) |
V2259A |
possibly damaging |
Het |
| Mmp16 |
C |
T |
4: 18,011,784 (GRCm39) |
P233L |
probably benign |
Het |
| Mrpl27 |
A |
G |
11: 94,550,523 (GRCm39) |
N110S |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,119,502 (GRCm39) |
M131T |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,462,953 (GRCm39) |
T198A |
probably benign |
Het |
| Nek8 |
T |
C |
11: 78,058,653 (GRCm39) |
Q549R |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,186,278 (GRCm39) |
*1347Q |
probably null |
Het |
| Pkd2l1 |
C |
T |
19: 44,144,044 (GRCm39) |
R343H |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,308,012 (GRCm39) |
L215H |
probably damaging |
Het |
| Ralgds |
T |
C |
2: 28,442,230 (GRCm39) |
L137P |
probably damaging |
Het |
| Rasa2 |
C |
T |
9: 96,426,913 (GRCm39) |
D752N |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,896,041 (GRCm39) |
K1726E |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,175,142 (GRCm39) |
|
probably benign |
Het |
| Tmem183a |
A |
G |
1: 134,277,882 (GRCm39) |
L294P |
probably damaging |
Het |
| Trav19 |
T |
C |
14: 54,083,141 (GRCm39) |
L72P |
probably damaging |
Het |
| Vapa |
T |
C |
17: 65,900,476 (GRCm39) |
T99A |
possibly damaging |
Het |
|
| Other mutations in Aadacl2fm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3008:Aadacl2fm2
|
UTSW |
3 |
59,652,930 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation