Incidental Mutation 'IGL01019:Snw1'
ID |
53913 |
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: 0.961)
|
Stock # |
IGL01019
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
87496680-87519069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87497711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 426
(E426G)
|
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: E426G
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000021428 Gene: ENSMUSG00000021039 AA Change: E426G
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930022D16Rik |
T |
C |
11: 109,308,737 (GRCm39) |
|
probably benign |
Het |
Aatk |
T |
C |
11: 119,903,101 (GRCm39) |
S375G |
probably benign |
Het |
Abcg8 |
T |
C |
17: 84,999,423 (GRCm39) |
M173T |
probably benign |
Het |
B3galt2 |
A |
C |
1: 143,522,495 (GRCm39) |
R210S |
probably benign |
Het |
Bltp1 |
G |
T |
3: 37,061,133 (GRCm39) |
|
probably null |
Het |
Capn5 |
C |
T |
7: 97,784,971 (GRCm39) |
A168T |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,814,829 (GRCm39) |
G24D |
probably damaging |
Het |
Ccdc7a |
A |
T |
8: 129,788,099 (GRCm39) |
S77T |
probably benign |
Het |
Cd200r2 |
T |
A |
16: 44,729,832 (GRCm39) |
|
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,406,377 (GRCm39) |
H32R |
probably benign |
Het |
Chdh |
A |
T |
14: 29,753,289 (GRCm39) |
N66I |
probably benign |
Het |
Clca3a2 |
G |
A |
3: 144,519,388 (GRCm39) |
Q263* |
probably null |
Het |
Dcc |
T |
C |
18: 71,942,161 (GRCm39) |
I319V |
probably benign |
Het |
Depdc5 |
G |
T |
5: 33,050,745 (GRCm39) |
M170I |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,607,117 (GRCm39) |
L2140Q |
probably benign |
Het |
Frem3 |
G |
A |
8: 81,341,763 (GRCm39) |
G1352E |
probably benign |
Het |
Fsd1l |
T |
A |
4: 53,694,742 (GRCm39) |
C389S |
probably damaging |
Het |
Grin2c |
C |
T |
11: 115,148,936 (GRCm39) |
A221T |
possibly damaging |
Het |
Gstz1 |
C |
A |
12: 87,210,575 (GRCm39) |
P153T |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,378,237 (GRCm39) |
S22P |
possibly damaging |
Het |
Krt87 |
G |
T |
15: 101,336,312 (GRCm39) |
Q114K |
possibly damaging |
Het |
Krtap5-4 |
A |
C |
7: 141,857,647 (GRCm39) |
S106R |
unknown |
Het |
Lats1 |
T |
C |
10: 7,581,435 (GRCm39) |
V740A |
probably damaging |
Het |
Mcm9 |
C |
A |
10: 53,506,041 (GRCm39) |
G78C |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,569,413 (GRCm39) |
E1128K |
possibly damaging |
Het |
Myo1f |
G |
A |
17: 33,811,977 (GRCm39) |
R592H |
possibly damaging |
Het |
Nfat5 |
G |
T |
8: 108,094,146 (GRCm39) |
A277S |
probably damaging |
Het |
Nfkbia |
T |
A |
12: 55,537,327 (GRCm39) |
Y254F |
probably damaging |
Het |
Nr3c2 |
A |
T |
8: 77,635,843 (GRCm39) |
N315Y |
probably damaging |
Het |
Otof |
T |
C |
5: 30,562,560 (GRCm39) |
M258V |
probably benign |
Het |
Panx3 |
C |
T |
9: 37,572,767 (GRCm39) |
C261Y |
probably damaging |
Het |
Pdia2 |
C |
A |
17: 26,417,896 (GRCm39) |
G38W |
probably damaging |
Het |
Psg19 |
G |
T |
7: 18,527,971 (GRCm39) |
Y257* |
probably null |
Het |
Ptpre |
A |
T |
7: 135,280,054 (GRCm39) |
K586* |
probably null |
Het |
Reps1 |
A |
G |
10: 18,000,643 (GRCm39) |
R752G |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,633 (GRCm39) |
D277E |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,671 (GRCm39) |
|
noncoding transcript |
Het |
Serpinf2 |
T |
A |
11: 75,327,333 (GRCm39) |
E198V |
possibly damaging |
Het |
Sh3tc1 |
A |
G |
5: 35,860,719 (GRCm39) |
L1046P |
probably damaging |
Het |
Sord |
T |
A |
2: 122,094,564 (GRCm39) |
N317K |
probably benign |
Het |
Taar3 |
A |
T |
10: 23,826,330 (GRCm39) |
D292V |
probably damaging |
Het |
Tdrd3 |
C |
A |
14: 87,709,618 (GRCm39) |
T94K |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,687,165 (GRCm39) |
E736* |
probably null |
Het |
Usp32 |
A |
G |
11: 84,930,091 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn1r169 |
T |
G |
7: 23,276,611 (GRCm39) |
M1R |
probably null |
Het |
Vmn2r3 |
C |
T |
3: 64,167,304 (GRCm39) |
C609Y |
probably damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,055,739 (GRCm39) |
T800A |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,387,542 (GRCm39) |
T674I |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,241,088 (GRCm39) |
M52K |
possibly damaging |
Het |
Zfp607a |
T |
A |
7: 27,578,042 (GRCm39) |
C371S |
probably 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 |
|
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 |
2013-06-28 |