Incidental Mutation 'IGL02734:Aadacl4fm5'
| ID |
305575 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aadacl4fm5
|
| Ensembl Gene |
ENSMUSG00000078504 |
| Gene Name |
AADACL4 family member 5 |
| Synonyms |
Gm438, LOC329993 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL02734
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144503774-144513153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144506349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 114
(D114V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105746]
|
| AlphaFold |
B1ASB3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105746
AA Change: D114V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101372
Gene: ENSMUSG00000078504
AA Change: D114V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
3 |
25 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
111 |
270 |
4.9e-22 |
PFAM |
|
Pfam:Abhydrolase_3
|
284 |
366 |
1.3e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,022,812 (GRCm39) |
V226A |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,018,633 (GRCm39) |
V525E |
probably benign |
Het |
| Apip |
C |
T |
2: 102,919,889 (GRCm39) |
|
probably benign |
Het |
| Bak1 |
A |
G |
17: 27,239,927 (GRCm39) |
V203A |
possibly damaging |
Het |
| Bche |
T |
A |
3: 73,609,409 (GRCm39) |
T6S |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,484,737 (GRCm39) |
V493D |
probably damaging |
Het |
| Cstf3 |
T |
A |
2: 104,439,539 (GRCm39) |
|
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,502,042 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
G |
T |
15: 85,111,182 (GRCm39) |
C112F |
probably damaging |
Het |
| Gm12695 |
G |
A |
4: 96,612,267 (GRCm39) |
R499* |
probably null |
Het |
| Igdcc4 |
T |
G |
9: 65,038,738 (GRCm39) |
S887A |
possibly damaging |
Het |
| Itgb4 |
G |
T |
11: 115,896,792 (GRCm39) |
R1470L |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,990,280 (GRCm39) |
E480G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,639,628 (GRCm39) |
F497L |
probably damaging |
Het |
| Or4a74 |
T |
C |
2: 89,440,303 (GRCm39) |
I48V |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,883 (GRCm39) |
D84A |
possibly damaging |
Het |
| Or5t5 |
T |
C |
2: 86,616,712 (GRCm39) |
Y213H |
probably benign |
Het |
| Prl7a2 |
A |
T |
13: 27,843,190 (GRCm39) |
D204E |
probably benign |
Het |
| Shd |
A |
G |
17: 56,278,632 (GRCm39) |
Y65C |
probably damaging |
Het |
| Slc25a39 |
A |
G |
11: 102,295,349 (GRCm39) |
V207A |
probably benign |
Het |
| Sptlc2 |
T |
C |
12: 87,402,444 (GRCm39) |
T161A |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tacc2 |
G |
T |
7: 130,227,829 (GRCm39) |
V1505L |
probably damaging |
Het |
| Taf6 |
T |
C |
5: 138,182,118 (GRCm39) |
K76E |
possibly damaging |
Het |
| Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,157,849 (GRCm39) |
I353T |
unknown |
Het |
|
| Other mutations in Aadacl4fm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01139:Aadacl4fm5
|
APN |
4 |
144,504,259 (GRCm39) |
nonsense |
probably null |
|
|
IGL01293:Aadacl4fm5
|
APN |
4 |
144,504,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01678:Aadacl4fm5
|
APN |
4 |
144,504,443 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02609:Aadacl4fm5
|
APN |
4 |
144,506,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Aadacl4fm5
|
APN |
4 |
144,504,755 (GRCm39) |
splice site |
probably benign |
|
|
IGL02869:Aadacl4fm5
|
APN |
4 |
144,512,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02988:Aadacl4fm5
|
APN |
4 |
144,513,100 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0553:Aadacl4fm5
|
UTSW |
4 |
144,503,985 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1514:Aadacl4fm5
|
UTSW |
4 |
144,504,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Aadacl4fm5
|
UTSW |
4 |
144,504,453 (GRCm39) |
missense |
probably benign |
|
|
R1957:Aadacl4fm5
|
UTSW |
4 |
144,504,389 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2014:Aadacl4fm5
|
UTSW |
4 |
144,506,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2243:Aadacl4fm5
|
UTSW |
4 |
144,503,991 (GRCm39) |
missense |
probably benign |
|
|
R4943:Aadacl4fm5
|
UTSW |
4 |
144,504,290 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5439:Aadacl4fm5
|
UTSW |
4 |
144,504,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:Aadacl4fm5
|
UTSW |
4 |
144,504,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6414:Aadacl4fm5
|
UTSW |
4 |
144,503,985 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6664:Aadacl4fm5
|
UTSW |
4 |
144,503,969 (GRCm39) |
makesense |
probably null |
|
|
R6869:Aadacl4fm5
|
UTSW |
4 |
144,507,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7384:Aadacl4fm5
|
UTSW |
4 |
144,507,191 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7439:Aadacl4fm5
|
UTSW |
4 |
144,504,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Aadacl4fm5
|
UTSW |
4 |
144,504,521 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9284:Aadacl4fm5
|
UTSW |
4 |
144,504,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation