Incidental Mutation 'R3815:Smad1'
ID 274244
Institutional Source Beutler Lab
Gene Symbol Smad1
Ensembl Gene ENSMUSG00000031681
Gene Name SMAD family member 1
Synonyms Madr1, Madh1, Smad 1
MMRRC Submission 040770-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3815 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 80065024-80126057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80070359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 393 (A393V)
Ref Sequence ENSEMBL: ENSMUSP00000105511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066091] [ENSMUST00000109885]
AlphaFold P70340
Predicted Effect probably benign
Transcript: ENSMUST00000066091
AA Change: A393V

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000071035
Gene: ENSMUSG00000031681
AA Change: A393V

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
AA Change: A393V

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105511
Gene: ENSMUSG00000031681
AA Change: A393V

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
Meta Mutation Damage Score 0.0871 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,024 (GRCm39) probably benign Het
Aldh18a1 A G 19: 40,558,944 (GRCm39) S299P probably damaging Het
Ankrd6 A C 4: 32,806,206 (GRCm39) S618R probably benign Het
Apobec3 G T 15: 79,783,301 (GRCm39) R126M possibly damaging Het
Arl8b T A 6: 108,790,658 (GRCm39) V65D probably damaging Het
AW554918 C T 18: 25,533,104 (GRCm39) R253C probably benign Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Cdca7l G A 12: 117,835,948 (GRCm39) V95I probably damaging Het
Ces1e A G 8: 93,928,467 (GRCm39) probably null Het
Cfap90 A G 13: 68,759,344 (GRCm39) H106R probably damaging Het
Coq5 T G 5: 115,433,957 (GRCm39) F306V probably damaging Het
Cpsf1 A G 15: 76,485,349 (GRCm39) V501A probably benign Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cul5 T A 9: 53,534,243 (GRCm39) I630L probably benign Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Dedd A G 1: 171,166,469 (GRCm39) E135G probably benign Het
Ecel1 A G 1: 87,080,622 (GRCm39) F368S probably damaging Het
Ext1 A C 15: 53,208,485 (GRCm39) I92S probably benign Het
Fbxw5 A T 2: 25,393,576 (GRCm39) D268V possibly damaging Het
Flacc1 T G 1: 58,698,164 (GRCm39) N379T probably damaging Het
Gen1 A T 12: 11,302,034 (GRCm39) V192E possibly damaging Het
Gm11077 T G 6: 140,675,041 (GRCm39) V11G unknown Het
Ift88 A T 14: 57,678,438 (GRCm39) E150V possibly damaging Het
Kcna1 T C 6: 126,620,009 (GRCm39) R104G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt82 A G 15: 101,459,035 (GRCm39) S2P probably damaging Het
Luc7l2 T C 6: 38,547,526 (GRCm39) S69P possibly damaging Het
Ly9 G T 1: 171,416,653 (GRCm39) T537N possibly damaging Het
Mamstr G T 7: 45,293,956 (GRCm39) R20L probably damaging Het
Nav1 C A 1: 135,398,862 (GRCm39) K573N possibly damaging Het
Or5b104 T C 19: 13,072,277 (GRCm39) H245R probably damaging Het
Or8b12c C T 9: 37,715,465 (GRCm39) S86L probably benign Het
Or8b40 A T 9: 38,027,922 (GRCm39) T277S possibly damaging Het
Or8b55 A G 9: 38,727,722 (GRCm39) K308E possibly damaging Het
Palld T A 8: 62,002,871 (GRCm39) probably benign Het
Pcdha2 A G 18: 37,074,748 (GRCm39) Y793C probably benign Het
Pcdhb4 A T 18: 37,441,065 (GRCm39) D125V probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,883,359 (GRCm39) E329V probably damaging Het
Rarres1 T A 3: 67,422,654 (GRCm39) D32V probably benign Het
Rhobtb1 A G 10: 69,121,523 (GRCm39) H53R possibly damaging Het
Ryr1 A T 7: 28,772,327 (GRCm39) S2494T probably damaging Het
Sapcd2 G A 2: 25,263,518 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Senp1 A C 15: 97,954,713 (GRCm39) D490E probably damaging Het
Sfrp5 C T 19: 42,187,230 (GRCm39) R280H probably benign Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Skint5 G A 4: 113,703,496 (GRCm39) T499I possibly damaging Het
Sorl1 A G 9: 41,975,345 (GRCm39) L487P possibly damaging Het
Spire1 G T 18: 67,639,733 (GRCm39) T273K probably benign Het
Tep1 T C 14: 51,105,772 (GRCm39) T83A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttn T A 2: 76,552,077 (GRCm39) R29441* probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign 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
R3624:Smad1 UTSW 8 80,066,327 (GRCm39) missense probably benign 0.31
R3791:Smad1 UTSW 8 80,066,399 (GRCm39) missense probably damaging 1.00
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'- GCACAGATTTACATGTTGTGAGAAGG -3'
(R):5'- TAACTGACTGCCATGGCTG -3'

Sequencing Primer
(F):5'- ACATGTTGTGAGAAGGCATGTG -3'
(R):5'- GCAGGAGTCCACCTTTATTACG -3'
Posted On 2015-04-02