Incidental Mutation 'IGL02672:Smad3'
ID 302983
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 # IGL02672
Quality Score
Status
Chromosome 9
Chromosomal Location 63554049-63665276 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 63575009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034973] [ENSMUST00000034973] [ENSMUST00000137713] [ENSMUST00000154323] [ENSMUST00000154323]
AlphaFold Q8BUN5
Predicted Effect probably null
Transcript: ENSMUST00000034973
SMART Domains Protein: ENSMUSP00000034973
Gene: ENSMUSG00000032402

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 probably null
Transcript: ENSMUST00000034973
SMART Domains Protein: ENSMUSP00000034973
Gene: ENSMUSG00000032402

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 probably null
Transcript: ENSMUST00000133108
SMART Domains Protein: ENSMUSP00000122217
Gene: ENSMUSG00000032402

DomainStartEndE-ValueType
DWA 3 75 2.19e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000133108
SMART Domains Protein: ENSMUSP00000122217
Gene: ENSMUSG00000032402

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 null
Transcript: ENSMUST00000154323
SMART Domains Protein: ENSMUSP00000116790
Gene: ENSMUSG00000032402

DomainStartEndE-ValueType
DWA 1 69 5.6e-22 SMART
Pfam:MH2 161 233 3.9e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000154323
SMART Domains Protein: ENSMUSP00000116790
Gene: ENSMUSG00000032402

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Mesp2 T C 7: 79,461,145 (GRCm39) S157P probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null 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
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 2015-04-16