Incidental Mutation 'R0753:Sowahc'
| ID |
474053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sowahc
|
| Ensembl Gene |
ENSMUSG00000098188 |
| Gene Name |
sosondowah ankyrin repeat domain family member C |
| Synonyms |
C820004L04Rik, Ankrd57 |
| MMRRC Submission |
038933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R0753 (G1)
|
| Quality Score |
108 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59057775-59062256 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA to GGGAGGAGGAGGAGGAGGAGGAGGA
at 59059313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165971]
[ENSMUST00000182161]
[ENSMUST00000220156]
|
| AlphaFold |
Q8C0J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165971
|
| SMART Domains |
Protein: ENSMUSP00000129023
Gene: ENSMUSG00000019917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
36 |
307 |
1.1e-100 |
PFAM |
|
Pfam:MMR_HSR1
|
41 |
182 |
2.2e-7 |
PFAM |
|
low complexity region
|
374 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182161
|
| SMART Domains |
Protein: ENSMUSP00000138351
Gene: ENSMUSG00000098188
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
173 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
250 |
N/A |
INTRINSIC |
|
ANK
|
288 |
323 |
1.54e-1 |
SMART |
|
ANK
|
327 |
357 |
3.57e-6 |
SMART |
|
low complexity region
|
434 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220156
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 3 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Fez2 |
GCTTCTTCTTCTTCTT |
GCTTCTTCTTCTT |
17: 78,708,115 (GRCm39) |
|
probably benign |
Het |
| Sis |
T |
C |
3: 72,859,864 (GRCm39) |
Q297R |
probably damaging |
Het |
|
| Other mutations in Sowahc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0744:Sowahc
|
UTSW |
10 |
59,059,313 (GRCm39) |
unclassified |
probably benign |
|
|
R4747:Sowahc
|
UTSW |
10 |
59,058,983 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5523:Sowahc
|
UTSW |
10 |
59,058,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5650:Sowahc
|
UTSW |
10 |
59,059,313 (GRCm39) |
unclassified |
probably benign |
|
|
R5658:Sowahc
|
UTSW |
10 |
59,059,049 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5838:Sowahc
|
UTSW |
10 |
59,059,012 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5959:Sowahc
|
UTSW |
10 |
59,058,920 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6166:Sowahc
|
UTSW |
10 |
59,058,182 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6365:Sowahc
|
UTSW |
10 |
59,059,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Sowahc
|
UTSW |
10 |
59,058,100 (GRCm39) |
missense |
probably benign |
|
|
R7568:Sowahc
|
UTSW |
10 |
59,059,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Sowahc
|
UTSW |
10 |
59,058,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Sowahc
|
UTSW |
10 |
59,059,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8912:Sowahc
|
UTSW |
10 |
59,057,813 (GRCm39) |
unclassified |
probably benign |
|
|
R9164:Sowahc
|
UTSW |
10 |
59,057,897 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9336:Sowahc
|
UTSW |
10 |
59,058,305 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9414:Sowahc
|
UTSW |
10 |
59,058,491 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation