Incidental Mutation 'IGL02804:Aadacl4fm4'
| ID |
360357 |
| 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 # |
IGL02804
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144396507-144412938 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144397009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 241
(I241N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105747]
|
| AlphaFold |
B1AVU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105747
AA Change: I241N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: I241N
| 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 |
|---|
| Aftph |
T |
C |
11: 20,676,107 (GRCm39) |
T501A |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,258,512 (GRCm39) |
S985P |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,417,788 (GRCm39) |
S650T |
probably damaging |
Het |
| Camk2d |
G |
A |
3: 126,591,387 (GRCm39) |
E286K |
possibly damaging |
Het |
| Card10 |
A |
G |
15: 78,686,649 (GRCm39) |
V56A |
probably damaging |
Het |
| Fcgbpl1 |
G |
T |
7: 27,852,795 (GRCm39) |
V1361L |
probably benign |
Het |
| H2-Q10 |
G |
A |
17: 35,784,147 (GRCm39) |
G263R |
probably damaging |
Het |
| Herc4 |
A |
C |
10: 63,121,454 (GRCm39) |
K365Q |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,130,411 (GRCm39) |
H101R |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,082,159 (GRCm39) |
N255Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,467,643 (GRCm39) |
L756P |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,518,210 (GRCm39) |
|
probably null |
Het |
| Or6c88 |
T |
C |
10: 129,407,306 (GRCm39) |
S261P |
possibly damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,314,161 (GRCm39) |
Y145H |
probably damaging |
Het |
| Prkag1 |
G |
A |
15: 98,713,385 (GRCm39) |
S69L |
probably damaging |
Het |
| Prkd2 |
C |
A |
7: 16,589,815 (GRCm39) |
R506S |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,268,204 (GRCm39) |
D102E |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,077,898 (GRCm39) |
|
probably benign |
Het |
| Snap23 |
T |
C |
2: 120,416,637 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,874,182 (GRCm39) |
|
probably benign |
Het |
| Speer4a2 |
T |
A |
5: 26,291,429 (GRCm39) |
K126* |
probably null |
Het |
| Strbp |
T |
C |
2: 37,514,498 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
G |
A |
17: 29,745,455 (GRCm39) |
L92F |
probably damaging |
Het |
| Troap |
G |
A |
15: 98,975,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,467 (GRCm39) |
M52V |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zbp1 |
T |
A |
2: 173,050,939 (GRCm39) |
K310N |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,509,285 (GRCm39) |
H332L |
probably benign |
Het |
|
| Other mutations in Aadacl4fm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Aadacl4fm4
|
APN |
4 |
144,400,349 (GRCm39) |
missense |
probably benign |
0.12 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation