Incidental Mutation 'IGL01542:Smad3'
ID90190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smad3
Ensembl Gene ENSMUSG00000032402
Gene NameSMAD family member 3
SynonymsMadh3, Smad 3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01542
Quality Score
Status
Chromosome9
Chromosomal Location63646767-63757994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 63655586 bp
ZygosityHeterozygous
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]
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
1700016C15Rik A G 1: 177,743,384 T95A possibly damaging Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arhgap20 A G 9: 51,838,887 M316V probably benign Het
Chd7 T G 4: 8,859,285 N2458K possibly damaging Het
Clock T C 5: 76,231,475 E538G possibly damaging Het
Clpb G A 7: 101,787,505 V596I probably damaging Het
Col9a3 T C 2: 180,609,316 probably benign Het
D130043K22Rik G A 13: 24,876,037 probably null Het
Drd4 T C 7: 141,293,831 probably benign Het
Fam228b A T 12: 4,763,055 I105N probably damaging Het
Gm20939 A T 17: 94,874,293 probably benign Het
Gm4952 A G 19: 12,618,407 T54A possibly damaging Het
Hbs1l T C 10: 21,307,756 V132A probably benign Het
Kpna2 T A 11: 106,991,201 E266D probably benign Het
Lars T C 18: 42,214,827 E977G probably benign Het
Lrrn4 T C 2: 132,879,472 T142A probably benign Het
Myo19 T C 11: 84,909,546 L919P probably damaging Het
Nhlrc1 A T 13: 47,014,131 F217I probably damaging Het
Olfr1495 T C 19: 13,768,537 F65S probably damaging Het
Plch1 T C 3: 63,731,649 I468V probably damaging Het
Rergl T A 6: 139,493,498 probably null Het
Sctr A G 1: 120,044,769 probably benign Het
Sdhb T C 4: 140,972,967 V126A probably benign Het
Tdrd9 T C 12: 112,046,989 M1219T possibly damaging Het
Tmem167b A T 3: 108,558,906 N75K possibly damaging Het
Vmn2r83 T C 10: 79,479,012 S365P probably benign Het
Vps16 T C 2: 130,438,394 F153L probably damaging Het
Other mutations in Smad3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Smad3 APN 9 63757553 missense probably damaging 1.00
IGL02672:Smad3 APN 9 63667727 critical splice donor site probably null
IGL02686:Smad3 APN 9 63667782 missense probably damaging 1.00
IGL03205:Smad3 APN 9 63667866 missense probably benign 0.12
noseeem UTSW 9 63654717 nonsense probably null
R4555:Smad3 UTSW 9 63654788 missense possibly damaging 0.71
R4736:Smad3 UTSW 9 63757560 missense probably damaging 1.00
R6387:Smad3 UTSW 9 63654765 missense probably benign 0.00
R7167:Smad3 UTSW 9 63666153 missense probably benign 0.00
R7591:Smad3 UTSW 9 63654717 nonsense probably null
R7961:Smad3 UTSW 9 63650282 missense possibly damaging 0.70
R8303:Smad3 UTSW 9 63667478 missense probably benign
Posted On2013-12-03