Incidental Mutation 'IGL01019:Snw1'
ID53913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snw1
Ensembl Gene ENSMUSG00000021039
Gene NameSNW domain containing 1
SynonymsSkiip, SKIP, NCoA-62, 2310008B08Rik, SNW1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL01019
Quality Score
Status
Chromosome12
Chromosomal Location87449075-87472274 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87450941 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RRM 18 82 1.08e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160488
SMART Domains Protein: ENSMUSP00000124174
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
RRM 20 92 2.41e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160880
SMART Domains Protein: ENSMUSP00000125727
Gene: ENSMUSG00000021040

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G T 3: 37,006,984 probably null Het
9930022D16Rik T C 11: 109,417,911 probably benign Het
Aatk T C 11: 120,012,275 S375G probably benign Het
Abcg8 T C 17: 84,691,995 M173T probably benign Het
B3galt2 A C 1: 143,646,757 R210S probably benign Het
Capn5 C T 7: 98,135,764 A168T probably damaging Het
Cbx7 C T 15: 79,930,628 G24D probably damaging Het
Ccdc7a A T 8: 129,061,618 S77T probably benign Het
Cd200r2 T A 16: 44,909,469 probably benign Het
Cdh11 T C 8: 102,679,745 H32R probably benign Het
Chdh A T 14: 30,031,332 N66I probably benign Het
Clca3a2 G A 3: 144,813,627 Q263* probably null Het
Dcc T C 18: 71,809,090 I319V probably benign Het
Depdc5 G T 5: 32,893,401 M170I probably damaging Het
Dopey2 T A 16: 93,810,229 L2140Q probably benign Het
Frem3 G A 8: 80,615,134 G1352E probably benign Het
Fsd1l T A 4: 53,694,742 C389S probably damaging Het
Grin2c C T 11: 115,258,110 A221T possibly damaging Het
Gstz1 C A 12: 87,163,801 P153T probably damaging Het
Itgb2 T C 10: 77,542,403 S22P possibly damaging Het
Krt87 G T 15: 101,438,431 Q114K possibly damaging Het
Krtap5-4 A C 7: 142,303,910 S106R unknown Het
Lats1 T C 10: 7,705,671 V740A probably damaging Het
Mcm9 C A 10: 53,629,945 G78C probably damaging Het
Mn1 G A 5: 111,421,547 E1128K possibly damaging Het
Myo1f G A 17: 33,593,003 R592H possibly damaging Het
Nfat5 G T 8: 107,367,514 A277S probably damaging Het
Nfkbia T A 12: 55,490,542 Y254F probably damaging Het
Nr3c2 A T 8: 76,909,214 N315Y probably damaging Het
Otof T C 5: 30,405,216 M258V probably benign Het
Panx3 C T 9: 37,661,471 C261Y probably damaging Het
Pdia2 C A 17: 26,198,922 G38W probably damaging Het
Psg19 G T 7: 18,794,046 Y257* probably null Het
Ptpre A T 7: 135,678,325 K586* probably null Het
Reps1 A G 10: 18,124,895 R752G probably damaging Het
Rpgrip1 T A 14: 52,131,176 D277E possibly damaging Het
Rpl21-ps6 A G 17: 55,915,671 noncoding transcript Het
Serpinf2 T A 11: 75,436,507 E198V possibly damaging Het
Sh3tc1 A G 5: 35,703,375 L1046P probably damaging Het
Sord T A 2: 122,264,083 N317K probably benign Het
Taar3 A T 10: 23,950,432 D292V probably damaging Het
Tdrd3 C A 14: 87,472,182 T94K probably damaging Het
Ttn C A 2: 76,856,821 E736* probably null Het
Usp32 A G 11: 85,039,265 V562A probably damaging Het
Vmn1r169 T G 7: 23,577,186 M1R probably null Het
Vmn2r3 C T 3: 64,259,883 C609Y probably damaging Het
Vmn2r69 T C 7: 85,406,531 T800A probably benign Het
Vmn2r72 G A 7: 85,738,334 T674I probably benign Het
Zfp160 T A 17: 21,020,826 M52K possibly damaging Het
Zfp607a T A 7: 27,878,617 C371S probably damaging Het
Other mutations in Snw1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Snw1 APN 12 87452580 critical splice donor site probably null
IGL00559:Snw1 APN 12 87468731 missense probably damaging 0.98
IGL00561:Snw1 APN 12 87450804 critical splice donor site probably null
IGL01304:Snw1 APN 12 87453915 missense possibly damaging 0.71
IGL01918:Snw1 APN 12 87455668 missense probably benign 0.14
IGL03170:Snw1 APN 12 87472252 missense probably benign 0.00
R0149:Snw1 UTSW 12 87461917 missense possibly damaging 0.51
R1760:Snw1 UTSW 12 87464689 missense probably benign 0.06
R1935:Snw1 UTSW 12 87459477 missense probably damaging 1.00
R2130:Snw1 UTSW 12 87452703 unclassified probably benign
R2230:Snw1 UTSW 12 87452658 missense probably benign 0.00
R2496:Snw1 UTSW 12 87450819 missense probably benign
R4907:Snw1 UTSW 12 87459489 missense probably benign 0.19
R4926:Snw1 UTSW 12 87452658 missense probably benign 0.00
R5138:Snw1 UTSW 12 87460435 missense probably benign 0.00
R5447:Snw1 UTSW 12 87455715 missense probably benign 0.19
R6239:Snw1 UTSW 12 87464628 missense probably damaging 1.00
R6552:Snw1 UTSW 12 87459419 critical splice donor site probably null
R6747:Snw1 UTSW 12 87464710 missense probably damaging 1.00
R7230:Snw1 UTSW 12 87464554 missense probably damaging 1.00
R7242:Snw1 UTSW 12 87468645 missense possibly damaging 0.94
R8184:Snw1 UTSW 12 87453903 missense probably benign 0.01
Posted On2013-06-28