Incidental Mutation 'IGL01304:Snw1'
| ID |
73375 |
| 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 # |
IGL01304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
87496680-87519069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87500685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 358
(D358G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000021428
AA Change: D358G
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021428
Gene: ENSMUSG00000021039
AA Change: D358G
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
| Aplf |
A |
C |
6: 87,618,882 (GRCm39) |
S421A |
possibly damaging |
Het |
| Arnt |
T |
G |
3: 95,355,696 (GRCm39) |
D13E |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,184,298 (GRCm39) |
E45G |
probably damaging |
Het |
| C2cd2l |
T |
C |
9: 44,230,884 (GRCm39) |
N101S |
probably damaging |
Het |
| Cby2 |
T |
A |
14: 75,830,085 (GRCm39) |
D36V |
possibly damaging |
Het |
| Chmp7 |
G |
A |
14: 69,956,062 (GRCm39) |
P402L |
probably benign |
Het |
| Cir1 |
A |
T |
2: 73,118,068 (GRCm39) |
|
probably null |
Het |
| Clock |
A |
G |
5: 76,414,202 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
T |
G |
10: 76,911,975 (GRCm39) |
|
probably benign |
Het |
| Csf2ra |
G |
A |
19: 61,215,271 (GRCm39) |
H115Y |
possibly damaging |
Het |
| Cspg5 |
T |
A |
9: 110,085,236 (GRCm39) |
L469H |
probably damaging |
Het |
| Dapk2 |
T |
C |
9: 66,139,139 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
C |
13: 37,172,852 (GRCm39) |
D176G |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,194,817 (GRCm39) |
E1448G |
probably damaging |
Het |
| Gtf2b |
C |
T |
3: 142,487,359 (GRCm39) |
S265L |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,498,675 (GRCm39) |
G4068D |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Ksr1 |
T |
C |
11: 78,918,468 (GRCm39) |
Q562R |
probably damaging |
Het |
| Lrif1 |
C |
T |
3: 106,639,049 (GRCm39) |
P20S |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,453,588 (GRCm39) |
T1194A |
possibly damaging |
Het |
| Med18 |
C |
A |
4: 132,186,930 (GRCm39) |
A190S |
probably damaging |
Het |
| Mia2 |
G |
A |
12: 59,151,324 (GRCm39) |
E105K |
probably damaging |
Het |
| Mnt |
T |
A |
11: 74,733,011 (GRCm39) |
Y48N |
probably damaging |
Het |
| Mpp4 |
A |
C |
1: 59,188,678 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
G |
A |
2: 90,112,425 (GRCm39) |
P165S |
possibly damaging |
Het |
| Popdc3 |
T |
G |
10: 45,194,005 (GRCm39) |
S269A |
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,261 (GRCm39) |
M662K |
probably damaging |
Het |
| Qser1 |
C |
A |
2: 104,617,976 (GRCm39) |
Q945H |
probably damaging |
Het |
| Rad52 |
A |
G |
6: 119,895,594 (GRCm39) |
E198G |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,216,147 (GRCm39) |
V867A |
possibly damaging |
Het |
| Rdh16 |
G |
T |
10: 127,649,365 (GRCm39) |
A274S |
probably benign |
Het |
| Slco1a5 |
G |
T |
6: 142,187,876 (GRCm39) |
Q488K |
probably benign |
Het |
| Snai2 |
T |
C |
16: 14,524,635 (GRCm39) |
I47T |
probably benign |
Het |
| Speg |
T |
C |
1: 75,404,841 (GRCm39) |
F2878L |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,902,771 (GRCm39) |
Y1386C |
probably damaging |
Het |
| Tgfb2 |
A |
C |
1: 186,357,670 (GRCm39) |
I435S |
probably damaging |
Het |
| Ttc9b |
G |
A |
7: 27,355,410 (GRCm39) |
D227N |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,448 (GRCm39) |
E243G |
possibly damaging |
Het |
| Usp28 |
A |
G |
9: 48,938,119 (GRCm39) |
D563G |
probably damaging |
Het |
| Vmn1r77 |
T |
C |
7: 11,775,962 (GRCm39) |
V178A |
probably damaging |
Het |
| Zfp316 |
A |
G |
5: 143,240,181 (GRCm39) |
F613L |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,101,980 (GRCm39) |
C450S |
possibly damaging |
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 |
|
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 |
2013-10-07 |
Incidental Mutation