Incidental Mutation 'R3624:Smad1'
ID 269327
Institutional Source Beutler Lab
Gene Symbol Smad1
Ensembl Gene ENSMUSG00000031681
Gene Name SMAD family member 1
Synonyms Madr1, Madh1, Smad 1
MMRRC Submission 040678-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3624 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 80065024-80126057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80066327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 450 (V450A)
Ref Sequence ENSEMBL: ENSMUSP00000071035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066091] [ENSMUST00000109885]
AlphaFold P70340
PDB Structure Crystal Structure of SMAD1-MH1/DNA complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000066091
AA Change: V450A

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000071035
Gene: ENSMUSG00000031681
AA Change: V450A

DomainStartEndE-ValueType
DWA 25 134 6.94e-68 SMART
low complexity region 179 212 N/A INTRINSIC
low complexity region 219 233 N/A INTRINSIC
DWB 269 441 2.73e-107 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109885
SMART Domains Protein: ENSMUSP00000105511
Gene: ENSMUSG00000031681

DomainStartEndE-ValueType
DWA 25 134 6.94e-68 SMART
low complexity region 179 212 N/A INTRINSIC
low complexity region 219 233 N/A INTRINSIC
DWB 269 425 3.92e-76 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210678
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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 mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired allantois formation resulting in the lack of a placenta, and die around embryonic day 9-10. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,080,348 (GRCm39) T364A probably benign Het
Adcy2 T C 13: 68,790,650 (GRCm39) T905A probably damaging Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Ankrd53 A G 6: 83,740,244 (GRCm39) E104G possibly damaging Het
Anks1 T C 17: 28,205,262 (GRCm39) F274L probably damaging Het
Btaf1 A G 19: 36,958,486 (GRCm39) T668A probably benign Het
Coch A G 12: 51,649,609 (GRCm39) I307V probably benign Het
Colec11 T C 12: 28,644,907 (GRCm39) M196V probably benign Het
Cyp2c54 A G 19: 40,058,688 (GRCm39) I248T probably benign Het
D17H6S53E A G 17: 35,346,512 (GRCm39) E141G probably benign Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dock8 A G 19: 25,057,241 (GRCm39) Q216R probably benign Het
Elp1 C T 4: 56,798,708 (GRCm39) V85M possibly damaging Het
Emilin3 T C 2: 160,750,177 (GRCm39) D477G possibly damaging Het
Esp4 A G 17: 40,913,484 (GRCm39) K117R unknown Het
Fam186b A G 15: 99,178,396 (GRCm39) L310S probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,957 (GRCm39) T20A possibly damaging Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Irs2 C T 8: 11,057,643 (GRCm39) G263D probably damaging Het
Itih3 A G 14: 30,636,700 (GRCm39) Y38H probably damaging Het
Kif21a A G 15: 90,849,798 (GRCm39) V35A probably damaging Het
Klhl14 A T 18: 21,690,953 (GRCm39) V499D probably damaging Het
Kmt2d T C 15: 98,740,783 (GRCm39) probably benign Het
Loxl4 A G 19: 42,596,015 (GRCm39) V146A probably benign Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Mga A G 2: 119,772,245 (GRCm39) T1702A probably damaging Het
Midn A G 10: 79,986,144 (GRCm39) D78G probably benign Het
Mlh3 C T 12: 85,315,169 (GRCm39) C339Y probably damaging Het
Mog T C 17: 37,323,338 (GRCm39) H200R possibly damaging Het
Nadk2 T A 15: 9,084,303 (GRCm39) W139R probably damaging Het
Nsd3 A G 8: 26,152,835 (GRCm39) T392A probably damaging Het
Pbld2 T C 10: 62,897,470 (GRCm39) L57P probably damaging Het
Racgap1 T A 15: 99,540,772 (GRCm39) N26I probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rspry1 A G 8: 95,376,405 (GRCm39) D309G probably damaging Het
Sgcz T C 8: 38,420,201 (GRCm39) E17G probably damaging Het
Slc16a10 A G 10: 40,017,890 (GRCm39) V48A probably benign Het
Smad9 C T 3: 54,696,705 (GRCm39) R257W probably damaging Het
Snrpb C A 2: 130,017,299 (GRCm39) R73L probably null Het
Spag11a A G 8: 19,209,417 (GRCm39) D69G probably benign Het
Sptbn1 T C 11: 30,090,593 (GRCm39) H559R probably damaging Het
Strn3 T C 12: 51,707,999 (GRCm39) Y132C possibly damaging Het
Tasor2 T C 13: 3,645,556 (GRCm39) T98A probably benign Het
Tgm6 T A 2: 129,993,681 (GRCm39) V640E possibly damaging Het
Trim54 G A 5: 31,294,320 (GRCm39) V319M possibly damaging Het
Trpm1 A G 7: 63,894,601 (GRCm39) Y951C probably damaging Het
Ube3a T A 7: 58,921,860 (GRCm39) N77K probably damaging Het
Uhrf1 C T 17: 56,624,023 (GRCm39) T482I probably damaging Het
Veph1 C T 3: 66,122,858 (GRCm39) V224I probably benign Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn1r88 A C 7: 12,911,790 (GRCm39) M49L probably benign Het
Vmn2r24 A G 6: 123,792,997 (GRCm39) R775G probably damaging Het
Zfp60 T A 7: 27,448,753 (GRCm39) F474I probably benign Het
Zkscan8 C T 13: 21,704,946 (GRCm39) R259Q probably damaging Het
Other mutations in Smad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Smad1 APN 8 80,083,098 (GRCm39) missense probably damaging 0.97
IGL01792:Smad1 APN 8 80,098,752 (GRCm39) missense probably damaging 1.00
R0395:Smad1 UTSW 8 80,076,411 (GRCm39) missense probably benign 0.01
R0400:Smad1 UTSW 8 80,098,399 (GRCm39) splice site probably benign
R0990:Smad1 UTSW 8 80,070,417 (GRCm39) missense probably damaging 1.00
R1371:Smad1 UTSW 8 80,076,207 (GRCm39) splice site probably benign
R1481:Smad1 UTSW 8 80,070,359 (GRCm39) missense probably benign 0.20
R1661:Smad1 UTSW 8 80,098,658 (GRCm39) missense probably damaging 1.00
R1665:Smad1 UTSW 8 80,098,658 (GRCm39) missense probably damaging 1.00
R1797:Smad1 UTSW 8 80,070,473 (GRCm39) missense probably damaging 1.00
R2879:Smad1 UTSW 8 80,080,084 (GRCm39) splice site probably null
R3791:Smad1 UTSW 8 80,066,399 (GRCm39) missense probably damaging 1.00
R3815:Smad1 UTSW 8 80,070,359 (GRCm39) missense probably benign 0.20
R3819:Smad1 UTSW 8 80,070,359 (GRCm39) missense probably benign 0.20
R4887:Smad1 UTSW 8 80,076,381 (GRCm39) missense probably damaging 1.00
R5438:Smad1 UTSW 8 80,082,949 (GRCm39) missense probably benign 0.19
R8836:Smad1 UTSW 8 80,098,554 (GRCm39) missense probably damaging 1.00
R9308:Smad1 UTSW 8 80,098,899 (GRCm39) start gained probably benign
X0064:Smad1 UTSW 8 80,080,033 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AACCAAGGCTTGTCAGTTTCTC -3'
(R):5'- CATGAGTCCAAGCAGGCTTC -3'

Sequencing Primer
(F):5'- GGCTTGTCAGTTTCTCAATCCAATAG -3'
(R):5'- GGCTTCTACAAACCGATCATCTG -3'
Posted On 2015-02-19