Incidental Mutation 'IGL00341:Smad6'
ID4864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smad6
Ensembl Gene ENSMUSG00000036867
Gene NameSMAD family member 6
SynonymsMadh6, b2b390Clo, Smad 6
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.554) question?
Stock #IGL00341
Quality Score
Status
Chromosome9
Chromosomal Location63953076-64022059 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63953981 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 344 (V344A)
Ref Sequence ENSEMBL: ENSMUSP00000036285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041029]
Predicted Effect probably damaging
Transcript: ENSMUST00000041029
AA Change: V344A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036285
Gene: ENSMUSG00000036867
AA Change: V344A

DomainStartEndE-ValueType
Blast:DWA 2 143 9e-43 BLAST
DWA 168 274 1.17e-51 SMART
DWB 330 492 3.62e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144323
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality. Survivors develop aortic ossification and hypertension as adults. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 T A 6: 43,280,269 Y519* probably null Het
Bahcc1 A G 11: 120,272,304 Y476C probably damaging Het
Bclaf1 A T 10: 20,325,999 E295D probably damaging Het
Bend3 A G 10: 43,511,543 D644G probably damaging Het
Ccdc122 G A 14: 77,091,739 M77I probably benign Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Dnah11 T C 12: 118,198,745 R30G probably benign Het
Hoxc4 A G 15: 103,035,838 D214G probably damaging Het
Itsn2 A T 12: 4,658,027 T778S possibly damaging Het
Kcnn2 A G 18: 45,677,071 probably benign Het
Krtap5-3 G T 7: 142,201,875 probably benign Het
Lgr5 G T 10: 115,454,464 Q516K possibly damaging Het
Lrpprc T C 17: 84,750,525 K759R possibly damaging Het
Mtfr2 A G 10: 20,357,648 D321G probably damaging Het
Nip7 A G 8: 107,057,170 Y45C possibly damaging Het
Olfr1216 T C 2: 89,013,924 I47V probably benign Het
Pak1ip1 A T 13: 41,008,018 T84S possibly damaging Het
Ptpn20 C A 14: 33,622,619 R167S probably benign Het
Rab4b C T 7: 27,172,726 G190S probably damaging Het
Ropn1l T A 15: 31,443,349 D179V probably damaging Het
Shc2 C T 10: 79,621,069 R571Q probably damaging Het
Smad1 A G 8: 79,356,469 V134A probably damaging Het
Tet2 A G 3: 133,488,085 L196P possibly damaging Het
Tmem64 T A 4: 15,266,694 V248E probably damaging Het
Ttc7 C T 17: 87,363,564 T709I possibly damaging Het
Usp31 A G 7: 121,706,670 L195P probably damaging Het
Vmn2r112 G A 17: 22,618,936 V793I probably benign Het
Xpo5 T G 17: 46,225,047 L535R probably damaging Het
Ythdc2 A T 18: 44,850,397 M544L probably benign Het
Other mutations in Smad6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02419:Smad6 APN 9 63953518 utr 3 prime probably benign
IGL02511:Smad6 APN 9 63953577 missense probably damaging 1.00
R3975:Smad6 UTSW 9 64020930 missense probably benign
R5010:Smad6 UTSW 9 63953900 missense possibly damaging 0.76
R6791:Smad6 UTSW 9 64012227 missense probably benign
R7155:Smad6 UTSW 9 64021787 missense unknown
R7205:Smad6 UTSW 9 64020406 missense probably damaging 1.00
R7573:Smad6 UTSW 9 64021770 missense unknown
Posted On2012-04-20