Incidental Mutation 'IGL00497:Snw1'
| ID |
4385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snw1
|
| Ensembl Gene |
ENSMUSG00000021039 |
| Gene Name |
SNW domain containing 1 |
| Synonyms |
SNW1, Skiip, 2310008B08Rik, NCoA-62, SKIP |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL00497
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
87496680-87519069 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 87499350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000021428
|
| SMART Domains |
Protein: ENSMUSP00000021428
Gene: ENSMUSG00000021039
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222579
|
| Coding Region Coverage |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
G |
A |
3: 79,538,598 (GRCm39) |
|
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,012 (GRCm39) |
R1128Q |
probably benign |
Het |
| Acot6 |
C |
T |
12: 84,156,212 (GRCm39) |
R387C |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,660,973 (GRCm39) |
E118G |
probably damaging |
Het |
| Adcyap1r1 |
G |
A |
6: 55,449,264 (GRCm39) |
V73I |
probably damaging |
Het |
| Apol8 |
T |
C |
15: 77,634,214 (GRCm39) |
T121A |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,163,759 (GRCm39) |
N1076D |
probably damaging |
Het |
| Ccdc91 |
C |
A |
6: 147,508,485 (GRCm39) |
Q404K |
unknown |
Het |
| Cpt1b |
T |
C |
15: 89,306,496 (GRCm39) |
K294R |
probably benign |
Het |
| Dnah6 |
A |
C |
6: 73,172,744 (GRCm39) |
V238G |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,663,536 (GRCm39) |
S1920P |
probably damaging |
Het |
| Gcfc2 |
A |
T |
6: 81,934,951 (GRCm39) |
I737L |
probably benign |
Het |
| Gmeb1 |
A |
G |
4: 131,955,296 (GRCm39) |
V293A |
probably benign |
Het |
| Gpi-ps |
T |
C |
8: 5,690,563 (GRCm39) |
|
noncoding transcript |
Het |
| Hibch |
A |
G |
1: 52,924,349 (GRCm39) |
|
probably benign |
Het |
| Ifnab |
A |
G |
4: 88,609,419 (GRCm39) |
Y16H |
probably benign |
Het |
| Il17rc |
T |
C |
6: 113,451,132 (GRCm39) |
V155A |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,356 (GRCm39) |
H166R |
probably benign |
Het |
| Map4k5 |
G |
T |
12: 69,892,506 (GRCm39) |
A141E |
probably damaging |
Het |
| Mettl17 |
A |
T |
14: 52,126,292 (GRCm39) |
K233N |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,862,204 (GRCm39) |
L740S |
probably damaging |
Het |
| Mpdz |
A |
C |
4: 81,253,979 (GRCm39) |
I1051S |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,058,834 (GRCm39) |
F944S |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,233,314 (GRCm39) |
Y611C |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,478,100 (GRCm39) |
N951D |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,876,547 (GRCm39) |
S126G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,655,206 (GRCm39) |
Y1755C |
probably damaging |
Het |
| Phf14 |
T |
C |
6: 11,941,423 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,256,876 (GRCm39) |
M1196K |
possibly damaging |
Het |
| Prkd1 |
A |
T |
12: 50,430,264 (GRCm39) |
D614E |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,124,967 (GRCm39) |
L794P |
probably damaging |
Het |
| Rb1 |
C |
T |
14: 73,502,038 (GRCm39) |
R449H |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,474,652 (GRCm39) |
D469G |
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Sgo1 |
A |
G |
17: 53,984,130 (GRCm39) |
|
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,421,057 (GRCm39) |
|
probably null |
Het |
| Stac3 |
T |
C |
10: 127,339,533 (GRCm39) |
I143T |
probably damaging |
Het |
| Tcta |
A |
T |
9: 108,183,115 (GRCm39) |
L10Q |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,761,831 (GRCm39) |
|
probably benign |
Het |
| Trmt1 |
T |
C |
8: 85,422,138 (GRCm39) |
M254T |
possibly damaging |
Het |
| Trps1 |
T |
A |
15: 50,524,703 (GRCm39) |
M887L |
possibly damaging |
Het |
| Zfyve28 |
A |
G |
5: 34,400,539 (GRCm39) |
V53A |
probably damaging |
Het |
|
| Other mutations in Snw1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R8184:Snw1
|
UTSW |
12 |
87,500,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation