Incidental Mutation 'IGL02587:AAdacl4fm3'
| ID |
299570 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AAdacl4fm3
|
| Ensembl Gene |
ENSMUSG00000041735 |
| Gene Name |
AADACL4 family member 3 |
| Synonyms |
Gm13178 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL02587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144429761-144447974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 144429969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 340
(T340I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036876]
|
| AlphaFold |
B1AVU7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036876
AA Change: T340I
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: T340I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
84 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
116 |
286 |
2.3e-27 |
PFAM |
|
Pfam:Abhydrolase_3
|
287 |
382 |
8.8e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209924
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
A |
T |
15: 20,665,883 (GRCm39) |
V286E |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,831,130 (GRCm39) |
L232P |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,096,134 (GRCm39) |
N104S |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,510 (GRCm39) |
E550G |
possibly damaging |
Het |
| Cfhr4 |
G |
A |
1: 139,629,668 (GRCm39) |
T712I |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,287 (GRCm39) |
N141K |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,587,851 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,236 (GRCm39) |
E1168G |
possibly damaging |
Het |
| Fbxo48 |
T |
C |
11: 16,903,659 (GRCm39) |
I95T |
probably benign |
Het |
| Fpr3 |
A |
T |
17: 18,190,953 (GRCm39) |
T75S |
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,791,452 (GRCm39) |
K277E |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,677,067 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
A |
15: 101,907,367 (GRCm39) |
R239C |
probably benign |
Het |
| Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
| Neil1 |
C |
T |
9: 57,052,263 (GRCm39) |
R195H |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,217 (GRCm39) |
G946W |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,852 (GRCm39) |
N159I |
possibly damaging |
Het |
| Rad54l |
A |
G |
4: 115,962,994 (GRCm39) |
Y335H |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,675,684 (GRCm39) |
R159H |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,634,750 (GRCm39) |
D357G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Timeless |
A |
G |
10: 128,075,785 (GRCm39) |
M6V |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,281,636 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
C |
A |
17: 33,519,624 (GRCm39) |
Q31K |
probably damaging |
Het |
|
| Other mutations in AAdacl4fm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:AAdacl4fm3
|
APN |
4 |
144,430,263 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01985:AAdacl4fm3
|
APN |
4 |
144,442,024 (GRCm39) |
nonsense |
probably null |
|
|
P0018:AAdacl4fm3
|
UTSW |
4 |
144,429,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0395:AAdacl4fm3
|
UTSW |
4 |
144,429,765 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1617:AAdacl4fm3
|
UTSW |
4 |
144,441,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:AAdacl4fm3
|
UTSW |
4 |
144,430,074 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4409:AAdacl4fm3
|
UTSW |
4 |
144,447,872 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4577:AAdacl4fm3
|
UTSW |
4 |
144,430,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:AAdacl4fm3
|
UTSW |
4 |
144,429,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5069:AAdacl4fm3
|
UTSW |
4 |
144,430,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:AAdacl4fm3
|
UTSW |
4 |
144,430,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:AAdacl4fm3
|
UTSW |
4 |
144,430,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:AAdacl4fm3
|
UTSW |
4 |
144,429,766 (GRCm39) |
missense |
probably benign |
|
|
R6148:AAdacl4fm3
|
UTSW |
4 |
144,447,887 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6466:AAdacl4fm3
|
UTSW |
4 |
144,430,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6655:AAdacl4fm3
|
UTSW |
4 |
144,431,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:AAdacl4fm3
|
UTSW |
4 |
144,447,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7021:AAdacl4fm3
|
UTSW |
4 |
144,442,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:AAdacl4fm3
|
UTSW |
4 |
144,430,173 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7514:AAdacl4fm3
|
UTSW |
4 |
144,429,798 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7773:AAdacl4fm3
|
UTSW |
4 |
144,430,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7791:AAdacl4fm3
|
UTSW |
4 |
144,430,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:AAdacl4fm3
|
UTSW |
4 |
144,429,972 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8082:AAdacl4fm3
|
UTSW |
4 |
144,441,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:AAdacl4fm3
|
UTSW |
4 |
144,442,011 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9721:AAdacl4fm3
|
UTSW |
4 |
144,429,942 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:AAdacl4fm3
|
UTSW |
4 |
144,429,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:AAdacl4fm3
|
UTSW |
4 |
144,430,216 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2015-04-16 |
Incidental Mutation