Incidental Mutation 'P0018:AAdacl4fm3'
| ID |
7777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AAdacl4fm3
|
| Ensembl Gene |
ENSMUSG00000041735 |
| Gene Name |
AADACL4 family member 3 |
| Synonyms |
Gm13178 |
| MMRRC Submission |
038271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
P0018 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
144429761-144447974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144429767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 407
(D407E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036876]
|
| AlphaFold |
B1AVU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036876
AA Change: D407E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: D407E
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 83.8%
- 3x: 77.4%
- 10x: 57.9%
- 20x: 38.3%
|
| Validation Efficiency |
72% (76/106) |
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brip1 |
C |
T |
11: 85,999,694 (GRCm39) |
V763I |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,504,040 (GRCm39) |
D1723G |
possibly damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,353,992 (GRCm39) |
R593C |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,110,835 (GRCm39) |
M993L |
probably benign |
Het |
| Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Het |
| Galnt2 |
T |
A |
8: 125,063,350 (GRCm39) |
Y357N |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,458,382 (GRCm39) |
|
probably benign |
Het |
| Katna1 |
A |
T |
10: 7,617,223 (GRCm39) |
T72S |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,770,439 (GRCm39) |
D166G |
probably damaging |
Het |
| Nlgn1 |
G |
T |
3: 25,490,741 (GRCm39) |
P329T |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,727,735 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,843,694 (GRCm39) |
I174V |
possibly damaging |
Het |
| Sufu |
A |
G |
19: 46,463,933 (GRCm39) |
|
probably benign |
Het |
| Tmub1 |
C |
A |
5: 24,651,755 (GRCm39) |
A55S |
possibly 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 |
|
|
IGL02587:AAdacl4fm3
|
APN |
4 |
144,429,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2012-10-29 |
Incidental Mutation