Incidental Mutation 'IGL01304:Snw1'
ID73375
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: 0.961) question?
Stock #IGL01304
Quality Score
Status
Chromosome12
Chromosomal Location87449075-87472274 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87453915 bp
ZygosityHeterozygous
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]
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

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly 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
IGL01019:Snw1 APN 12 87450941 missense probably benign 0.24
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
Posted On2013-10-07