Incidental Mutation 'IGL01542:Smad3'
ID 90190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smad3
Ensembl Gene ENSMUSG00000032402
Gene Name SMAD family member 3
Synonyms Madh3, Smad 3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01542
Quality Score
Status
Chromosome 9
Chromosomal Location 63554049-63665276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63562868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 214 (R214Q)
Ref Sequence ENSEMBL: ENSMUSP00000116790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034973] [ENSMUST00000137713] [ENSMUST00000154323]
AlphaFold Q8BUN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000034973
AA Change: R279Q

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034973
Gene: ENSMUSG00000032402
AA Change: R279Q

DomainStartEndE-ValueType
DWA 26 134 5.63e-68 SMART
Blast:DWB 189 219 8e-12 BLAST
DWB 230 401 6.93e-109 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000137713
AA Change: R84Q

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121671
Gene: ENSMUSG00000032402
AA Change: R84Q

DomainStartEndE-ValueType
DWB 35 113 3.07e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154323
AA Change: R214Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116790
Gene: ENSMUSG00000032402
AA Change: R214Q

DomainStartEndE-ValueType
DWA 1 69 5.6e-22 SMART
Pfam:MH2 161 233 3.9e-31 PFAM
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, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygotes for targeted mutations exhibit reduced mucosal immunity, chronic intestinal inflammation (sometimes with colonic adenocarcinoma), forelimb malformation, reduced mineralization of enamel, impaired growth of ovarian follicles, and develop osteoarthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Arhgap20 A G 9: 51,750,187 (GRCm39) M316V probably benign Het
Chd7 T G 4: 8,859,285 (GRCm39) N2458K possibly damaging Het
Clock T C 5: 76,379,322 (GRCm39) E538G possibly damaging Het
Clpb G A 7: 101,436,712 (GRCm39) V596I probably damaging Het
Col9a3 T C 2: 180,251,109 (GRCm39) probably benign Het
D130043K22Rik G A 13: 25,060,020 (GRCm39) probably null Het
Drd4 T C 7: 140,873,744 (GRCm39) probably benign Het
Fam228b A T 12: 4,813,055 (GRCm39) I105N probably damaging Het
Gm20939 A T 17: 95,181,721 (GRCm39) probably benign Het
Gm4952 A G 19: 12,595,771 (GRCm39) T54A possibly damaging Het
Hbs1l T C 10: 21,183,655 (GRCm39) V132A probably benign Het
Kpna2 T A 11: 106,882,027 (GRCm39) E266D probably benign Het
Lars1 T C 18: 42,347,892 (GRCm39) E977G probably benign Het
Lrrn4 T C 2: 132,721,392 (GRCm39) T142A probably benign Het
Myo19 T C 11: 84,800,372 (GRCm39) L919P probably damaging Het
Nhlrc1 A T 13: 47,167,607 (GRCm39) F217I probably damaging Het
Or10q12 T C 19: 13,745,901 (GRCm39) F65S probably damaging Het
Plch1 T C 3: 63,639,070 (GRCm39) I468V probably damaging Het
Rergl T A 6: 139,470,496 (GRCm39) probably null Het
Sctr A G 1: 119,972,499 (GRCm39) probably benign Het
Sdhb T C 4: 140,700,278 (GRCm39) V126A probably benign Het
Spmip3 A G 1: 177,570,950 (GRCm39) T95A possibly damaging Het
Tdrd9 T C 12: 112,013,423 (GRCm39) M1219T possibly damaging Het
Tmem167b A T 3: 108,466,222 (GRCm39) N75K possibly damaging Het
Vmn2r83 T C 10: 79,314,846 (GRCm39) S365P probably benign Het
Vps16 T C 2: 130,280,314 (GRCm39) F153L probably damaging Het
Other mutations in Smad3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Smad3 APN 9 63,664,835 (GRCm39) missense probably damaging 1.00
IGL02672:Smad3 APN 9 63,575,009 (GRCm39) critical splice donor site probably null
IGL02686:Smad3 APN 9 63,575,064 (GRCm39) missense probably damaging 1.00
IGL03205:Smad3 APN 9 63,575,148 (GRCm39) missense probably benign 0.12
noseeem UTSW 9 63,561,999 (GRCm39) nonsense probably null
R4555:Smad3 UTSW 9 63,562,070 (GRCm39) missense possibly damaging 0.71
R4736:Smad3 UTSW 9 63,664,842 (GRCm39) missense probably damaging 1.00
R6387:Smad3 UTSW 9 63,562,047 (GRCm39) missense probably benign 0.00
R7167:Smad3 UTSW 9 63,573,435 (GRCm39) missense probably benign 0.00
R7591:Smad3 UTSW 9 63,561,999 (GRCm39) nonsense probably null
R7961:Smad3 UTSW 9 63,557,564 (GRCm39) missense possibly damaging 0.70
R8303:Smad3 UTSW 9 63,574,760 (GRCm39) missense probably benign
Posted On 2013-12-03