Incidental Mutation 'R6387:Smad3'
ID 514661
Institutional Source Beutler Lab
Gene Symbol Smad3
Ensembl Gene ENSMUSG00000032402
Gene Name SMAD family member 3
Synonyms Madh3, Smad 3
MMRRC Submission 044536-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6387 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 63554049-63665276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63562047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 310 (D310E)
Ref Sequence ENSEMBL: ENSMUSP00000034973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034973] [ENSMUST00000137713] [ENSMUST00000154323]
AlphaFold Q8BUN5
Predicted Effect probably benign
Transcript: ENSMUST00000034973
AA Change: D310E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034973
Gene: ENSMUSG00000032402
AA Change: D310E

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 benign
Transcript: ENSMUST00000137713
SMART Domains Protein: ENSMUSP00000121671
Gene: ENSMUSG00000032402

DomainStartEndE-ValueType
DWB 35 113 3.07e-6 SMART
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.1961 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (42/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,881 (GRCm39) K326E possibly damaging Het
Acot1 A G 12: 84,056,627 (GRCm39) D115G probably benign Het
Adm T C 7: 110,227,502 (GRCm39) I6T possibly damaging Het
Ahi1 A G 10: 20,844,942 (GRCm39) Y349C probably damaging Het
Aldh1a1 A G 19: 20,595,323 (GRCm39) E84G probably damaging Het
Ankrd31 A G 13: 96,967,081 (GRCm39) D520G probably damaging Het
Ano4 A T 10: 88,807,267 (GRCm39) Y736* probably null Het
Atp6v1a A G 16: 43,907,806 (GRCm39) F612S possibly damaging Het
Bltp3b C T 10: 89,638,919 (GRCm39) Q442* probably null Het
Calcb G A 7: 114,319,025 (GRCm39) V17I possibly damaging Het
Cfap70 C T 14: 20,498,643 (GRCm39) V15M probably damaging Het
Chad C T 11: 94,458,663 (GRCm39) H271Y possibly damaging Het
Csgalnact1 C T 8: 68,811,365 (GRCm39) G435D probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eprs1 T A 1: 185,119,281 (GRCm39) M487K possibly damaging Het
Fat4 A G 3: 39,037,934 (GRCm39) E3862G probably damaging Het
Gdf10 T A 14: 33,645,961 (GRCm39) S37T probably benign Het
Hhatl T A 9: 121,619,467 (GRCm39) H39L probably benign Het
Icam4 A C 9: 20,941,505 (GRCm39) S215R possibly damaging Het
Ighv1-18 T C 12: 114,646,280 (GRCm39) E108G probably damaging Het
Iqcd T C 5: 120,744,920 (GRCm39) I416T probably benign Het
Marf1 T A 16: 13,959,504 (GRCm39) *577L probably null Het
Mark2 A G 19: 7,263,267 (GRCm39) F167L probably damaging Het
Mpdz T C 4: 81,299,946 (GRCm39) T351A possibly damaging Het
Mrps27 A G 13: 99,536,825 (GRCm39) I113V possibly damaging Het
Numbl C T 7: 26,976,115 (GRCm39) T265I probably damaging Het
Obsl1 C T 1: 75,468,006 (GRCm39) A1296T probably benign Het
Or10g9 A G 9: 39,912,148 (GRCm39) I125T probably damaging Het
Pcdhb21 A G 18: 37,648,385 (GRCm39) I505V probably benign Het
Pfas A G 11: 68,891,291 (GRCm39) F269L probably damaging Het
Prkdc G A 16: 15,516,679 (GRCm39) V1018I probably benign Het
Prl4a1 T A 13: 28,202,482 (GRCm39) V19E possibly damaging Het
Ptpn22 A G 3: 103,792,702 (GRCm39) D327G probably benign Het
Sparcl1 T A 5: 104,232,926 (GRCm39) D625V probably damaging Het
Spta1 G A 1: 174,058,899 (GRCm39) A1945T probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sympk T C 7: 18,786,423 (GRCm39) Y1009H possibly damaging Het
Trio A G 15: 27,752,825 (GRCm39) F1026L probably damaging Het
Unc5d T A 8: 29,365,554 (GRCm39) K144* probably null Het
Unk A G 11: 115,945,766 (GRCm39) N479S possibly damaging Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zfp993 A G 4: 146,741,975 (GRCm39) T100A 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGTTCTCTAGGTCAGTGGC -3'
(R):5'- TGCTTTAGGAACCCAGAGCTG -3'

Sequencing Primer
(F):5'- GCGCACAGACATGTACAGTGTC -3'
(R):5'- AGAGCTGCCCACCATTCTC -3'
Posted On 2018-05-04