Incidental Mutation 'IGL03023:Rwdd4a'
ID |
408038 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rwdd4a
|
Ensembl Gene |
ENSMUSG00000031568 |
Gene Name |
RWD domain containing 4A |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL03023
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
47986680-48005872 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47995803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 61
(V61A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033973]
[ENSMUST00000175692]
[ENSMUST00000176379]
|
AlphaFold |
Q9CPR1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033973
AA Change: V61A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000033973 Gene: ENSMUSG00000031568 AA Change: V61A
Domain | Start | End | E-Value | Type |
RWD
|
9 |
111 |
1.07e-12 |
SMART |
low complexity region
|
131 |
153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175692
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176379
AA Change: V61A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000135059 Gene: ENSMUSG00000031568 AA Change: V61A
Domain | Start | End | E-Value | Type |
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
G |
3: 40,859,419 (GRCm39) |
D28G |
probably damaging |
Het |
Btaf1 |
C |
T |
19: 36,987,415 (GRCm39) |
R1746C |
possibly damaging |
Het |
Comp |
T |
C |
8: 70,831,260 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,488,275 (GRCm39) |
D99G |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,339,719 (GRCm39) |
T313A |
probably damaging |
Het |
Cyp3a59 |
T |
A |
5: 146,022,660 (GRCm39) |
D55E |
probably benign |
Het |
Dysf |
A |
G |
6: 84,169,989 (GRCm39) |
Y1790C |
probably damaging |
Het |
Fmo3 |
A |
C |
1: 162,786,034 (GRCm39) |
F319V |
probably benign |
Het |
Frem2 |
A |
T |
3: 53,563,049 (GRCm39) |
V486D |
probably benign |
Het |
Gucy2c |
A |
T |
6: 136,679,794 (GRCm39) |
|
probably null |
Het |
Hdac7 |
A |
T |
15: 97,695,838 (GRCm39) |
Y674N |
probably damaging |
Het |
Inpp5a |
G |
A |
7: 139,105,702 (GRCm39) |
|
probably null |
Het |
Jup |
T |
C |
11: 100,271,518 (GRCm39) |
|
probably benign |
Het |
Krt84 |
T |
C |
15: 101,436,880 (GRCm39) |
T385A |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,292,572 (GRCm39) |
Y1075H |
probably damaging |
Het |
Nphp4 |
A |
G |
4: 152,608,692 (GRCm39) |
|
probably null |
Het |
Or10ak11 |
A |
T |
4: 118,687,449 (GRCm39) |
F63I |
probably damaging |
Het |
Or12d17 |
A |
G |
17: 37,777,885 (GRCm39) |
T263A |
probably benign |
Het |
Or4p7 |
G |
A |
2: 88,221,687 (GRCm39) |
C32Y |
probably damaging |
Het |
Psmc4 |
T |
A |
7: 27,742,285 (GRCm39) |
I264L |
possibly damaging |
Het |
Setx |
A |
G |
2: 29,035,914 (GRCm39) |
T800A |
probably benign |
Het |
Vmn1r74 |
T |
C |
7: 11,581,257 (GRCm39) |
C186R |
possibly damaging |
Het |
Vsig2 |
A |
G |
9: 37,453,708 (GRCm39) |
Y136C |
probably damaging |
Het |
|
Other mutations in Rwdd4a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00589:Rwdd4a
|
APN |
8 |
47,997,219 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01092:Rwdd4a
|
APN |
8 |
47,997,147 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL01717:Rwdd4a
|
APN |
8 |
47,997,140 (GRCm39) |
splice site |
probably benign |
|
IGL02268:Rwdd4a
|
APN |
8 |
48,003,731 (GRCm39) |
nonsense |
probably null |
|
IGL02813:Rwdd4a
|
APN |
8 |
47,990,396 (GRCm39) |
critical splice donor site |
probably null |
|
R0051:Rwdd4a
|
UTSW |
8 |
47,990,400 (GRCm39) |
splice site |
probably benign |
|
R0051:Rwdd4a
|
UTSW |
8 |
47,990,400 (GRCm39) |
splice site |
probably benign |
|
R0149:Rwdd4a
|
UTSW |
8 |
47,997,255 (GRCm39) |
missense |
probably null |
0.02 |
R0179:Rwdd4a
|
UTSW |
8 |
47,995,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R5046:Rwdd4a
|
UTSW |
8 |
47,995,837 (GRCm39) |
critical splice donor site |
probably null |
|
R5141:Rwdd4a
|
UTSW |
8 |
48,003,709 (GRCm39) |
intron |
probably benign |
|
R6280:Rwdd4a
|
UTSW |
8 |
47,995,832 (GRCm39) |
missense |
probably benign |
0.00 |
R6742:Rwdd4a
|
UTSW |
8 |
48,000,998 (GRCm39) |
splice site |
probably null |
|
R7816:Rwdd4a
|
UTSW |
8 |
47,990,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R8864:Rwdd4a
|
UTSW |
8 |
48,000,876 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2016-08-02 |