Incidental Mutation 'IGL00341:Smad6'
ID 4864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smad6
Ensembl Gene ENSMUSG00000036867
Gene Name SMAD family member 6
Synonyms b2b390Clo, Madh6, Smad 6
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # IGL00341
Quality Score
Status
Chromosome 9
Chromosomal Location 63860358-63929341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63861263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 344 (V344A)
Ref Sequence ENSEMBL: ENSMUSP00000036285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041029]
AlphaFold O35182
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: 43,257,203 (GRCm39) Y519* probably null Het
Bahcc1 A G 11: 120,163,130 (GRCm39) Y476C probably damaging Het
Bclaf1 A T 10: 20,201,745 (GRCm39) E295D probably damaging Het
Bend3 A G 10: 43,387,539 (GRCm39) D644G probably damaging Het
Ccdc122 G A 14: 77,329,179 (GRCm39) M77I probably benign Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Dnah11 T C 12: 118,162,480 (GRCm39) R30G probably benign Het
Hoxc4 A G 15: 102,944,264 (GRCm39) D214G probably damaging Het
Itsn2 A T 12: 4,708,027 (GRCm39) T778S possibly damaging Het
Kcnn2 A G 18: 45,810,138 (GRCm39) probably benign Het
Krtap5-3 G T 7: 141,755,612 (GRCm39) probably benign Het
Lgr5 G T 10: 115,290,369 (GRCm39) Q516K possibly damaging Het
Lrpprc T C 17: 85,057,953 (GRCm39) K759R possibly damaging Het
Mtfr2 A G 10: 20,233,394 (GRCm39) D321G probably damaging Het
Nip7 A G 8: 107,783,802 (GRCm39) Y45C possibly damaging Het
Or4c111 T C 2: 88,844,268 (GRCm39) I47V probably benign Het
Pak1ip1 A T 13: 41,161,494 (GRCm39) T84S possibly damaging Het
Ptpn20 C A 14: 33,344,576 (GRCm39) R167S probably benign Het
Rab4b C T 7: 26,872,151 (GRCm39) G190S probably damaging Het
Ropn1l T A 15: 31,443,495 (GRCm39) D179V probably damaging Het
Shc2 C T 10: 79,456,903 (GRCm39) R571Q probably damaging Het
Smad1 A G 8: 80,083,098 (GRCm39) V134A probably damaging Het
Tet2 A G 3: 133,193,846 (GRCm39) L196P possibly damaging Het
Tmem64 T A 4: 15,266,694 (GRCm39) V248E probably damaging Het
Ttc7 C T 17: 87,670,992 (GRCm39) T709I possibly damaging Het
Usp31 A G 7: 121,305,893 (GRCm39) L195P probably damaging Het
Vmn2r112 G A 17: 22,837,917 (GRCm39) V793I probably benign Het
Xpo5 T G 17: 46,535,973 (GRCm39) L535R probably damaging Het
Ythdc2 A T 18: 44,983,464 (GRCm39) M544L probably benign Het
Other mutations in Smad6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02419:Smad6 APN 9 63,860,800 (GRCm39) utr 3 prime probably benign
IGL02511:Smad6 APN 9 63,860,859 (GRCm39) missense probably damaging 1.00
R3975:Smad6 UTSW 9 63,928,212 (GRCm39) missense probably benign
R5010:Smad6 UTSW 9 63,861,182 (GRCm39) missense possibly damaging 0.76
R6791:Smad6 UTSW 9 63,919,509 (GRCm39) missense probably benign
R7155:Smad6 UTSW 9 63,929,069 (GRCm39) missense unknown
R7205:Smad6 UTSW 9 63,927,688 (GRCm39) missense probably damaging 1.00
R7573:Smad6 UTSW 9 63,929,052 (GRCm39) missense unknown
R8053:Smad6 UTSW 9 63,927,789 (GRCm39) missense probably damaging 1.00
R9132:Smad6 UTSW 9 63,914,870 (GRCm39) missense probably benign 0.27
R9258:Smad6 UTSW 9 63,927,573 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20