Incidental Mutation 'IGL02419:Smad6'
ID292605
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: 0.602) question?
Stock #IGL02419
Quality Score
Status
Chromosome9
Chromosomal Location63953076-64022059 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) G to A at 63953518 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041029]
Predicted Effect probably benign
Transcript: ENSMUST00000041029
SMART Domains Protein: ENSMUSP00000036285
Gene: ENSMUSG00000036867

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 87,586,099 F171L possibly damaging Het
Abca2 A G 2: 25,446,837 N2291D probably benign Het
Adamts9 A G 6: 92,796,997 V1145A probably benign Het
Adcy2 A G 13: 68,982,363 V135A probably benign Het
Akr1c14 A T 13: 4,080,617 probably null Het
Aptx G T 4: 40,691,032 A229E probably benign Het
Ash1l T C 3: 88,985,565 S1584P probably benign Het
Catsper3 A T 13: 55,808,068 T329S possibly damaging Het
Cntrl A G 2: 35,134,043 D27G probably damaging Het
Cobll1 A T 2: 65,151,048 I98K probably damaging Het
Ctdp1 T C 18: 80,420,584 K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 probably null Het
Cyp11b2 A T 15: 74,851,055 F498Y probably damaging Het
Dnpep A G 1: 75,315,688 I162T probably damaging Het
Efcab9 T C 11: 32,522,950 I166V probably benign Het
Ep400 A T 5: 110,697,376 probably null Het
Gata6 G A 18: 11,054,220 G50R probably damaging Het
Gm9631 G A 11: 121,943,652 Het
Grifin T C 5: 140,564,700 T20A probably benign Het
Hnf4a A T 2: 163,566,282 I352F probably damaging Het
Ifi204 T C 1: 173,749,380 T552A possibly damaging Het
Ifi205 C T 1: 174,017,614 A201T probably damaging Het
Kcnk6 A G 7: 29,225,202 V259A probably benign Het
Kif21b A G 1: 136,151,267 N451S probably benign Het
Klhl24 T A 16: 20,107,368 Y215* probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mical1 A G 10: 41,482,277 K429E possibly damaging Het
Misp A G 10: 79,827,871 probably benign Het
Mon2 T C 10: 123,016,447 N1007S probably benign Het
Olfr1420 A T 19: 11,896,822 Y267F probably benign Het
Olfr228 T A 2: 86,482,915 I276F probably damaging Het
Olfr307 C A 7: 86,335,662 V245F probably damaging Het
Olfr624 A T 7: 103,670,475 C185* probably null Het
Pex6 C A 17: 46,724,435 T840N possibly damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rapgef3 G T 15: 97,750,290 N679K probably benign Het
Serpina3n T C 12: 104,413,518 V390A possibly damaging Het
Sirpb1a A G 3: 15,426,338 F23S probably benign Het
Slc44a3 T C 3: 121,490,257 T449A probably benign Het
Sos2 C T 12: 69,616,990 M573I probably benign Het
St8sia1 A T 6: 142,828,935 I306N probably damaging Het
Tnks1bp1 T C 2: 85,071,781 S1674P possibly damaging Het
Trim47 G A 11: 116,106,201 R576W probably damaging Het
Wdr86 A T 5: 24,722,704 I79N probably damaging Het
Wwp2 T A 8: 107,549,815 V473D probably damaging Het
Zc3h12a T C 4: 125,119,788 T428A probably benign Het
Zfp592 A G 7: 81,038,245 E973G probably damaging Het
Other mutations in Smad6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Smad6 APN 9 63953981 missense probably damaging 1.00
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
Posted On2015-04-16