Incidental Mutation 'IGL00939:Sowahb'
| ID |
27448 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sowahb
|
| Ensembl Gene |
ENSMUSG00000045314 |
| Gene Name |
sosondowah ankyrin repeat domain family member B |
| Synonyms |
Ankrd56, 5730467H21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL00939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
93188982-93192881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93191701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 339
(D339E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061328]
|
| AlphaFold |
Q8BZW2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061328
AA Change: D339E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000055267
Gene: ENSMUSG00000045314
AA Change: D339E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
233 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
|
ANK
|
597 |
632 |
7.99e2 |
SMART |
|
ANK
|
636 |
666 |
4.32e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit exencephaly and wavy neural tube. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
A |
5: 35,981,359 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,942,543 (GRCm39) |
V2061A |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,708,521 (GRCm39) |
D194G |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,570,971 (GRCm39) |
S1657T |
possibly damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,210 (GRCm39) |
I279V |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,352,926 (GRCm39) |
S828P |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,272,952 (GRCm39) |
C193Y |
probably damaging |
Het |
| Nudt16l1 |
T |
C |
16: 4,757,299 (GRCm39) |
F71L |
probably benign |
Het |
| Nup50 |
T |
G |
15: 84,822,621 (GRCm39) |
L381* |
probably null |
Het |
| Pccb |
A |
G |
9: 100,867,922 (GRCm39) |
S372P |
probably damaging |
Het |
| Rnf19b |
A |
G |
4: 128,965,582 (GRCm39) |
R227G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,423 (GRCm39) |
I599V |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,191,174 (GRCm39) |
|
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,939,280 (GRCm39) |
T572I |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,975,100 (GRCm39) |
L109P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,540,425 (GRCm39) |
Q34187R |
possibly damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,040,904 (GRCm39) |
E177G |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,015,227 (GRCm39) |
T456A |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,692,666 (GRCm39) |
T80A |
probably benign |
Het |
|
| Other mutations in Sowahb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00963:Sowahb
|
APN |
5 |
93,191,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02656:Sowahb
|
APN |
5 |
93,191,106 (GRCm39) |
missense |
probably benign |
|
|
R0827:Sowahb
|
UTSW |
5 |
93,191,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2174:Sowahb
|
UTSW |
5 |
93,192,284 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3121:Sowahb
|
UTSW |
5 |
93,191,261 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3122:Sowahb
|
UTSW |
5 |
93,191,261 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4646:Sowahb
|
UTSW |
5 |
93,190,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Sowahb
|
UTSW |
5 |
93,190,630 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7712:Sowahb
|
UTSW |
5 |
93,191,240 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8040:Sowahb
|
UTSW |
5 |
93,191,292 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8071:Sowahb
|
UTSW |
5 |
93,190,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8075:Sowahb
|
UTSW |
5 |
93,192,276 (GRCm39) |
nonsense |
probably null |
|
|
R8138:Sowahb
|
UTSW |
5 |
93,191,342 (GRCm39) |
missense |
probably benign |
|
|
R8505:Sowahb
|
UTSW |
5 |
93,190,450 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9429:Sowahb
|
UTSW |
5 |
93,191,080 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0064:Sowahb
|
UTSW |
5 |
93,191,250 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation