Incidental Mutation 'IGL01149:Aadacl4fm4'
| ID |
50990 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aadacl4fm4
|
| Ensembl Gene |
ENSMUSG00000078505 |
| Gene Name |
AADACL4 family member 4 |
| Synonyms |
Gm436, LOC230890 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
IGL01149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144396507-144412938 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144400349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 143
(D143G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105747]
|
| AlphaFold |
B1AVU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105747
AA Change: D143G
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: D143G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
115 |
285 |
1.6e-29 |
PFAM |
|
Pfam:Abhydrolase_3
|
292 |
381 |
9e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4632415L05Rik |
A |
G |
3: 19,949,276 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy1 |
A |
C |
11: 7,087,385 (GRCm39) |
N420H |
probably damaging |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| B3galnt2 |
A |
T |
13: 14,155,270 (GRCm39) |
I216F |
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,902,137 (GRCm39) |
S465P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,362,235 (GRCm39) |
|
probably benign |
Het |
| Cdcp2 |
T |
C |
4: 106,964,308 (GRCm39) |
F386S |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,515,937 (GRCm39) |
T372A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,466,971 (GRCm39) |
M612R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,590 (GRCm39) |
C391R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,226 (GRCm39) |
Y616H |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,091 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,232 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
A |
G |
8: 106,074,439 (GRCm39) |
|
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,104 (GRCm39) |
R389G |
possibly damaging |
Het |
| Gm13941 |
T |
A |
2: 110,931,482 (GRCm39) |
E50V |
unknown |
Het |
| Kit |
C |
T |
5: 75,771,536 (GRCm39) |
T231M |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,463,087 (GRCm39) |
H212R |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,924,712 (GRCm39) |
S1747I |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,446 (GRCm39) |
S224P |
probably damaging |
Het |
| Or4q3 |
G |
T |
14: 50,583,071 (GRCm39) |
A276E |
probably damaging |
Het |
| Or8b12i |
G |
T |
9: 20,082,826 (GRCm39) |
L14I |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,830,491 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
G |
A |
10: 127,010,046 (GRCm39) |
|
probably benign |
Het |
| Slc7a6 |
T |
C |
8: 106,906,232 (GRCm39) |
S155P |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,767 (GRCm39) |
I173N |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tkfc |
A |
G |
19: 10,578,015 (GRCm39) |
L38P |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,015,264 (GRCm39) |
D324G |
probably null |
Het |
| Zfyve16 |
T |
C |
13: 92,644,791 (GRCm39) |
H1137R |
probably damaging |
Het |
|
| Other mutations in Aadacl4fm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01369:Aadacl4fm4
|
APN |
4 |
144,401,215 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01503:Aadacl4fm4
|
APN |
4 |
144,401,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01505:Aadacl4fm4
|
APN |
4 |
144,401,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Aadacl4fm4
|
APN |
4 |
144,396,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02447:Aadacl4fm4
|
APN |
4 |
144,401,269 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02804:Aadacl4fm4
|
APN |
4 |
144,397,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0373:Aadacl4fm4
|
UTSW |
4 |
144,412,790 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1124:Aadacl4fm4
|
UTSW |
4 |
144,396,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1598:Aadacl4fm4
|
UTSW |
4 |
144,396,994 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1734:Aadacl4fm4
|
UTSW |
4 |
144,396,596 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1763:Aadacl4fm4
|
UTSW |
4 |
144,396,529 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1968:Aadacl4fm4
|
UTSW |
4 |
144,397,193 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3055:Aadacl4fm4
|
UTSW |
4 |
144,401,268 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3056:Aadacl4fm4
|
UTSW |
4 |
144,401,268 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3930:Aadacl4fm4
|
UTSW |
4 |
144,396,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Aadacl4fm4
|
UTSW |
4 |
144,401,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Aadacl4fm4
|
UTSW |
4 |
144,396,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6302:Aadacl4fm4
|
UTSW |
4 |
144,396,760 (GRCm39) |
nonsense |
probably null |
|
|
R6814:Aadacl4fm4
|
UTSW |
4 |
144,397,216 (GRCm39) |
nonsense |
probably null |
|
|
R6872:Aadacl4fm4
|
UTSW |
4 |
144,397,216 (GRCm39) |
nonsense |
probably null |
|
|
R6988:Aadacl4fm4
|
UTSW |
4 |
144,412,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7131:Aadacl4fm4
|
UTSW |
4 |
144,396,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7895:Aadacl4fm4
|
UTSW |
4 |
144,396,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8108:Aadacl4fm4
|
UTSW |
4 |
144,397,239 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8378:Aadacl4fm4
|
UTSW |
4 |
144,397,169 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8676:Aadacl4fm4
|
UTSW |
4 |
144,396,683 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8817:Aadacl4fm4
|
UTSW |
4 |
144,400,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:Aadacl4fm4
|
UTSW |
4 |
144,401,256 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9640:Aadacl4fm4
|
UTSW |
4 |
144,412,809 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Posted On |
2013-06-21 |
Incidental Mutation