Incidental Mutation 'R8184:Snw1'
| ID |
634785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snw1
|
| Ensembl Gene |
ENSMUSG00000021039 |
| Gene Name |
SNW domain containing 1 |
| Synonyms |
SNW1, Skiip, 2310008B08Rik, NCoA-62, SKIP |
| MMRRC Submission |
067607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
87496680-87519069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87500673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 362
(E362G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021428]
[ENSMUST00000077462]
[ENSMUST00000160488]
[ENSMUST00000161023]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021428
AA Change: E362G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000021428
Gene: ENSMUSG00000021039
AA Change: E362G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SKIP_SNW
|
175 |
335 |
2e-78 |
PFAM |
|
low complexity region
|
524 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077462
|
| SMART Domains |
Protein: ENSMUSP00000076673
Gene: ENSMUSG00000021040
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
18 |
82 |
1.08e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160488
|
| SMART Domains |
Protein: ENSMUSP00000124174
Gene: ENSMUSG00000021040
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
92 |
2.41e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160880
|
| SMART Domains |
Protein: ENSMUSP00000125727
Gene: ENSMUSG00000021040
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
15 |
47 |
6e-17 |
BLAST |
|
SCOP:d1u2fa_
|
17 |
59 |
2e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161023
|
| SMART Domains |
Protein: ENSMUSP00000125341
Gene: ENSMUSG00000021040
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
92 |
1.73e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
T |
C |
2: 93,686,086 (GRCm39) |
K577R |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,467,499 (GRCm39) |
S368P |
probably benign |
Het |
| Brf2 |
T |
C |
8: 27,614,013 (GRCm39) |
E391G |
possibly damaging |
Het |
| Casr |
T |
A |
16: 36,330,108 (GRCm39) |
M409L |
probably benign |
Het |
| Ccdc83 |
G |
T |
7: 89,873,286 (GRCm39) |
Y356* |
probably null |
Het |
| Clec10a |
A |
T |
11: 70,060,642 (GRCm39) |
N166Y |
probably damaging |
Het |
| Copg1 |
T |
C |
6: 87,866,996 (GRCm39) |
F77S |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,666,194 (GRCm39) |
K611T |
probably benign |
Het |
| Dock10 |
G |
A |
1: 80,530,469 (GRCm39) |
H1025Y |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,741,596 (GRCm39) |
S876T |
possibly damaging |
Het |
| Dop1b |
G |
T |
16: 93,573,881 (GRCm39) |
R1701L |
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,690,817 (GRCm39) |
F278S |
probably damaging |
Het |
| Fbxo43 |
C |
T |
15: 36,162,485 (GRCm39) |
V241I |
possibly damaging |
Het |
| Gbx2 |
A |
T |
1: 89,856,550 (GRCm39) |
I280N |
probably damaging |
Het |
| Gnai1 |
A |
G |
5: 18,496,504 (GRCm39) |
F140L |
|
Het |
| Gne |
T |
C |
4: 44,084,061 (GRCm39) |
Y13C |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,121,662 (GRCm39) |
S688T |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,581,754 (GRCm39) |
D431E |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 54,079,546 (GRCm39) |
S36P |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,241,352 (GRCm39) |
I353N |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,204,534 (GRCm39) |
V974E |
probably damaging |
Het |
| Jaml |
T |
A |
9: 45,000,110 (GRCm39) |
L136Q |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,845,441 (GRCm39) |
V381A |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,838,187 (GRCm39) |
T523A |
unknown |
Het |
| Lrrc8e |
T |
G |
8: 4,285,140 (GRCm39) |
L455R |
probably damaging |
Het |
| Mrps11 |
T |
C |
7: 78,433,125 (GRCm39) |
S7P |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,933,722 (GRCm39) |
S155P |
unknown |
Het |
| Neurl3 |
A |
G |
1: 36,308,662 (GRCm39) |
F50S |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,490,363 (GRCm39) |
T455A |
probably damaging |
Het |
| Pbp2 |
T |
C |
6: 135,287,260 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,101,791 (GRCm39) |
L992* |
probably null |
Het |
| Pla2g6 |
A |
G |
15: 79,171,322 (GRCm39) |
I756T |
probably benign |
Het |
| Polm |
T |
A |
11: 5,781,707 (GRCm39) |
D263V |
possibly damaging |
Het |
| Pspc1 |
T |
C |
14: 57,001,700 (GRCm39) |
T225A |
probably benign |
Het |
| Rtca |
C |
A |
3: 116,301,473 (GRCm39) |
A25S |
probably benign |
Het |
| Sirt2 |
G |
A |
7: 28,487,191 (GRCm39) |
V318M |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,568,197 (GRCm39) |
I78K |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 74,009,577 (GRCm39) |
I246T |
probably benign |
Het |
| Smpd5 |
A |
G |
15: 76,179,926 (GRCm39) |
E325G |
probably benign |
Het |
| Tmem63c |
A |
T |
12: 87,108,328 (GRCm39) |
M114L |
possibly damaging |
Het |
| Trim24 |
T |
C |
6: 37,848,242 (GRCm39) |
L66P |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,896,060 (GRCm39) |
F966L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,609,643 (GRCm39) |
I17588V |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,371,227 (GRCm39) |
C606* |
probably null |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,454 (GRCm39) |
V728E |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,036,019 (GRCm39) |
D299G |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Snw1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Snw1
|
APN |
12 |
87,499,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00559:Snw1
|
APN |
12 |
87,515,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00561:Snw1
|
APN |
12 |
87,497,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01019:Snw1
|
APN |
12 |
87,497,711 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01304:Snw1
|
APN |
12 |
87,500,685 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01918:Snw1
|
APN |
12 |
87,502,438 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03170:Snw1
|
APN |
12 |
87,519,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0149:Snw1
|
UTSW |
12 |
87,508,687 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1760:Snw1
|
UTSW |
12 |
87,511,459 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1935:Snw1
|
UTSW |
12 |
87,506,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Snw1
|
UTSW |
12 |
87,499,473 (GRCm39) |
unclassified |
probably benign |
|
|
R2230:Snw1
|
UTSW |
12 |
87,499,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2496:Snw1
|
UTSW |
12 |
87,497,589 (GRCm39) |
missense |
probably benign |
|
|
R4907:Snw1
|
UTSW |
12 |
87,506,259 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4926:Snw1
|
UTSW |
12 |
87,499,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5138:Snw1
|
UTSW |
12 |
87,507,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5447:Snw1
|
UTSW |
12 |
87,502,485 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6239:Snw1
|
UTSW |
12 |
87,511,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Snw1
|
UTSW |
12 |
87,506,189 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6747:Snw1
|
UTSW |
12 |
87,511,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Snw1
|
UTSW |
12 |
87,511,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Snw1
|
UTSW |
12 |
87,515,415 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9297:Snw1
|
UTSW |
12 |
87,505,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Snw1
|
UTSW |
12 |
87,505,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGGAGCTTCAATTCTG -3'
(R):5'- TTAAAGGGCTGAGTGTGACC -3'
Sequencing Primer
(F):5'- CTGGGGAGCTTCAATTCTGTTAAG -3'
(R):5'- TCTAATCCCAGCAGCAGGGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation