Incidental Mutation 'IGL03205:Smad3'
ID 413120
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 # IGL03205
Quality Score
Status
Chromosome 9
Chromosomal Location 63554049-63665276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63575148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 23 (Y23F)
Ref Sequence ENSEMBL: ENSMUSP00000116790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034973] [ENSMUST00000137713] [ENSMUST00000154323]
AlphaFold Q8BUN5
Predicted Effect probably benign
Transcript: ENSMUST00000034973
AA Change: Y88F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000034973
Gene: ENSMUSG00000032402
AA Change: Y88F

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 unknown
Transcript: ENSMUST00000133108
AA Change: Y28F
SMART Domains Protein: ENSMUSP00000122217
Gene: ENSMUSG00000032402
AA Change: Y28F

DomainStartEndE-ValueType
DWA 3 75 2.19e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137065
Predicted Effect probably benign
Transcript: ENSMUST00000137713
SMART Domains Protein: ENSMUSP00000121671
Gene: ENSMUSG00000032402

DomainStartEndE-ValueType
DWB 35 113 3.07e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154323
AA Change: Y23F

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000116790
Gene: ENSMUSG00000032402
AA Change: Y23F

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsph2 A T 7: 13,290,301 (GRCm39) D120E probably damaging Het
Casp14 A G 10: 78,549,173 (GRCm39) *258Q probably null Het
Ccdc54 A C 16: 50,411,254 (GRCm39) F4C possibly damaging Het
Clcn4 C T 7: 7,293,419 (GRCm39) V475M probably damaging Het
D630045J12Rik C T 6: 38,124,194 (GRCm39) R1586H probably damaging Het
Eml4 T A 17: 83,761,873 (GRCm39) S453R probably damaging Het
Flt1 T C 5: 147,636,631 (GRCm39) K118E probably benign Het
Kif20b A T 19: 34,936,863 (GRCm39) E154D probably damaging Het
Meis2 C T 2: 115,694,731 (GRCm39) V471I probably benign Het
Naa16 G A 14: 79,593,952 (GRCm39) T371I possibly damaging Het
Naa20 A G 2: 145,745,251 (GRCm39) T8A possibly damaging Het
Or13a28 G A 7: 140,218,073 (GRCm39) C153Y possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Pmel A G 10: 128,552,317 (GRCm39) T384A probably benign Het
Ryr3 T C 2: 112,462,487 (GRCm39) Y4863C probably damaging Het
Slc4a4 G A 5: 89,297,189 (GRCm39) V510I probably benign Het
Sugt1 G A 14: 79,834,241 (GRCm39) A81T probably damaging Het
Svs3b A T 2: 164,098,181 (GRCm39) F47I probably damaging Het
Thbs4 T C 13: 92,899,282 (GRCm39) D571G probably damaging Het
Trav15-1-dv6-1 T C 14: 53,797,485 (GRCm39) Y45H probably damaging Het
Zbtb5 A T 4: 44,994,949 (GRCm39) M145K probably damaging Het
Other mutations in Smad3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01542:Smad3 APN 9 63,562,868 (GRCm39) missense probably damaging 0.98
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
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 2016-08-02