Incidental Mutation 'IGL02511:Smad6'
ID 296555
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 # IGL02511
Quality Score
Status
Chromosome 9
Chromosomal Location 63860358-63929341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63860859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 479 (F479L)
Ref Sequence ENSEMBL: ENSMUSP00000036285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041029]
AlphaFold O35182
Predicted Effect probably damaging
Transcript: ENSMUST00000041029
AA Change: F479L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036285
Gene: ENSMUSG00000036867
AA Change: F479L

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,692,111 (GRCm39) probably benign Het
Adam3 T A 8: 25,185,192 (GRCm39) D502V probably damaging Het
Adss2 T C 1: 177,598,700 (GRCm39) probably benign Het
Ankrd36 T A 11: 5,610,845 (GRCm39) probably null Het
Atf6b T C 17: 34,873,615 (GRCm39) S692P probably benign Het
Cap2 T C 13: 46,684,498 (GRCm39) M1T probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn1 A T 15: 92,114,266 (GRCm39) probably benign Het
Copg2 A T 6: 30,835,757 (GRCm39) F218Y probably benign Het
Dll4 G A 2: 119,156,947 (GRCm39) G73E probably damaging Het
Dzip3 T C 16: 48,757,343 (GRCm39) M897V possibly damaging Het
Ehbp1 T C 11: 22,039,653 (GRCm39) R816G probably damaging Het
Enoph1 T C 5: 100,208,894 (GRCm39) L83P probably benign Het
Enpep A G 3: 129,115,059 (GRCm39) S238P probably damaging Het
Fermt1 A C 2: 132,775,086 (GRCm39) probably benign Het
Gm6619 T A 6: 131,467,330 (GRCm39) I65K possibly damaging Het
Krtap31-2 T A 11: 99,827,518 (GRCm39) C117S possibly damaging Het
Ksr1 T C 11: 78,936,046 (GRCm39) D106G possibly damaging Het
Lgr4 A T 2: 109,841,617 (GRCm39) Y534F probably benign Het
Mamdc2 T C 19: 23,356,095 (GRCm39) T118A probably benign Het
Myo10 T A 15: 25,723,975 (GRCm39) I170N probably damaging Het
Myom2 T C 8: 15,115,743 (GRCm39) S53P probably benign Het
Npl T A 1: 153,391,227 (GRCm39) D176V probably damaging Het
Nrm T C 17: 36,172,316 (GRCm39) S14P probably damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5p70 T A 7: 107,995,265 (GRCm39) F313I probably benign Het
Or5v1b A G 17: 37,840,870 (GRCm39) M1V probably null Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Pard3 A T 8: 127,888,070 (GRCm39) probably benign Het
Pdzd4 T A X: 72,838,206 (GRCm39) M701L probably damaging Het
Pkhd1 A T 1: 20,143,731 (GRCm39) V3865E possibly damaging Het
Plxna3 C A X: 73,378,991 (GRCm39) Q712K probably damaging Het
Pon1 A G 6: 5,193,724 (GRCm39) L9P probably damaging Het
Pygm A T 19: 6,435,718 (GRCm39) I83F probably benign Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Serpina1a C T 12: 103,822,226 (GRCm39) W212* probably null Het
Slc38a9 C A 13: 112,834,541 (GRCm39) D239E possibly damaging Het
Smarcc2 T C 10: 128,297,251 (GRCm39) S48P probably damaging Het
Ttn T A 2: 76,768,034 (GRCm39) M3022L unknown Het
Tulp1 C A 17: 28,575,142 (GRCm39) R441L probably benign Het
Ugt1a10 T C 1: 87,983,585 (GRCm39) F128L probably damaging Het
Ulk4 A G 9: 121,017,420 (GRCm39) V686A probably damaging Het
Ush2a T C 1: 188,475,884 (GRCm39) probably null Het
Ushbp1 T C 8: 71,843,581 (GRCm39) M286V probably null Het
Usp51 T G X: 151,791,726 (GRCm39) I440R probably damaging Het
Wee1 G T 7: 109,738,483 (GRCm39) R532L possibly damaging Het
Zfhx4 A G 3: 5,464,243 (GRCm39) E1467G probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp551 A G 7: 12,150,602 (GRCm39) V269A possibly damaging Het
Other mutations in Smad6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Smad6 APN 9 63,861,263 (GRCm39) missense probably damaging 1.00
IGL02419:Smad6 APN 9 63,860,800 (GRCm39) utr 3 prime probably benign
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 2015-04-16