Incidental Mutation 'R8303:Smad3'
ID 639330
Institutional Source Beutler Lab
Gene Symbol Smad3
Ensembl Gene ENSMUSG00000032402
Gene Name SMAD family member 3
Synonyms Madh3, Smad 3
MMRRC Submission 067715-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8303 (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 63574760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 177 (P177T)
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: P177T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034973
Gene: ENSMUSG00000032402
AA Change: P177T

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
SMART Domains Protein: ENSMUSP00000122217
Gene: ENSMUSG00000032402
AA Change: P117T

DomainStartEndE-ValueType
DWA 3 75 2.19e-24 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
AA Change: P112T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116790
Gene: ENSMUSG00000032402
AA Change: P112T

DomainStartEndE-ValueType
DWA 1 69 5.6e-22 SMART
Pfam:MH2 161 233 3.9e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,770,966 (GRCm39) D149E probably benign Het
Aars2 T C 17: 45,818,523 (GRCm39) C103R probably damaging Het
Aass T C 6: 23,092,367 (GRCm39) D591G probably benign Het
Arhgap32 A G 9: 32,172,205 (GRCm39) T1662A probably benign Het
Arhgap42 A T 9: 9,009,327 (GRCm39) I520N probably damaging Het
Arhgef3 T C 14: 27,116,095 (GRCm39) I279T probably damaging Het
Arid4b A G 13: 14,294,808 (GRCm39) K30R probably damaging Het
Asxl3 C T 18: 22,657,473 (GRCm39) R1828W probably benign Het
Bid T C 6: 120,877,200 (GRCm39) Y47C probably benign Het
Card6 T C 15: 5,134,847 (GRCm39) T119A probably benign Het
Cbr1 T C 16: 93,406,905 (GRCm39) I207T probably damaging Het
Cep135 T C 5: 76,759,575 (GRCm39) L443P probably damaging Het
Cfap251 T A 5: 123,460,650 (GRCm39) V1204E probably damaging Het
Cfap43 T A 19: 47,754,274 (GRCm39) R1017* probably null Het
Cfap52 T A 11: 67,830,621 (GRCm39) S280C probably benign Het
Cntnap5b T C 1: 100,069,022 (GRCm39) F81L probably damaging Het
Cyp4a12a A G 4: 115,186,130 (GRCm39) D430G probably damaging Het
Cyp4f37 G A 17: 32,853,152 (GRCm39) probably null Het
Dclre1a A G 19: 56,531,121 (GRCm39) S742P probably damaging Het
Ddx54 T C 5: 120,759,855 (GRCm39) F414S probably damaging Het
Dsp A G 13: 38,381,319 (GRCm39) N2688S probably benign Het
Elovl4 A T 9: 83,670,320 (GRCm39) probably null Het
Erbin A C 13: 103,966,694 (GRCm39) probably null Het
Fsip2 A G 2: 82,818,724 (GRCm39) D4819G probably benign Het
Gapvd1 G A 2: 34,602,212 (GRCm39) P645L probably damaging Het
Gbp9 T C 5: 105,229,171 (GRCm39) E492G possibly damaging Het
Gpc5 T A 14: 115,665,667 (GRCm39) I497K probably benign Het
Hlx A G 1: 184,459,905 (GRCm39) L411P probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Ice1 A T 13: 70,754,526 (GRCm39) I520N probably benign Het
Ist1 T C 8: 110,410,412 (GRCm39) probably null Het
Itga3 T C 11: 94,953,466 (GRCm39) D292G probably benign Het
Kif21a T C 15: 90,855,399 (GRCm39) N655S probably damaging Het
Lrrtm1 A G 6: 77,221,662 (GRCm39) H373R probably benign Het
Ngdn A T 14: 55,260,602 (GRCm39) H270L probably benign Het
Nol4 G A 18: 23,173,231 (GRCm39) probably benign Het
Nup50l T C 6: 96,142,702 (GRCm39) E114G probably benign Het
Nxpe5 G A 5: 138,239,264 (GRCm39) probably benign Het
Or1j18 A G 2: 36,624,467 (GRCm39) I45V probably damaging Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or8d1 A C 9: 38,766,837 (GRCm39) T160P probably damaging Het
Or8g30 A C 9: 39,230,689 (GRCm39) S74A probably damaging Het
Pask C A 1: 93,248,286 (GRCm39) R1005L probably benign Het
Pcm1 A G 8: 41,736,758 (GRCm39) T875A probably damaging Het
Pdrg1 A T 2: 152,851,587 (GRCm39) I130N probably damaging Het
Plec A T 15: 76,073,466 (GRCm39) M448K unknown Het
R3hdml T G 2: 163,341,832 (GRCm39) V204G probably damaging Het
Rasa4 G A 5: 136,118,235 (GRCm39) V32M possibly damaging Het
Scaf8 T C 17: 3,198,827 (GRCm39) V44A unknown Het
Smpd4 T A 16: 17,457,195 (GRCm39) F384L probably damaging Het
Sycp2l G C 13: 41,283,275 (GRCm39) L170F probably damaging Het
Tas2r107 T C 6: 131,636,585 (GRCm39) S155G probably benign Het
Tmem143 T A 7: 45,565,994 (GRCm39) M439K probably benign Het
Ttc41 A T 10: 86,555,494 (GRCm39) T317S probably benign Het
Umps A G 16: 33,784,240 (GRCm39) V71A possibly damaging Het
Usp17lc G A 7: 103,067,389 (GRCm39) G228D possibly damaging Het
Usp17ld C T 7: 102,900,023 (GRCm39) C303Y probably damaging Het
Vmn2r65 C A 7: 84,589,391 (GRCm39) E842* probably null Het
Vmn2r94 A G 17: 18,464,433 (GRCm39) F619S probably damaging Het
Vps13a T C 19: 16,594,270 (GRCm39) T3154A probably benign Het
Vps13b C T 15: 35,640,063 (GRCm39) T1311I probably damaging Het
Xpot A T 10: 121,447,405 (GRCm39) Y353* probably null Het
Zfp319 A T 8: 96,055,765 (GRCm39) L146Q probably damaging Het
Zfp422 T A 6: 116,603,612 (GRCm39) H129L probably damaging Het
Zzef1 T C 11: 72,808,015 (GRCm39) F2709L 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
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
Predicted Primers PCR Primer
(F):5'- AGACACAGTGTTGCTATTTCCG -3'
(R):5'- GCACTGATCCACCTCTGTTG -3'

Sequencing Primer
(F):5'- TTCCGCTTCGAAAATAAATGACGGC -3'
(R):5'- GTGTCTCTCTTGGGGACAGTTCTAC -3'
Posted On 2020-07-28