Incidental Mutation 'R1211:Smad4'
ID 100711
Institutional Source Beutler Lab
Gene Symbol Smad4
Ensembl Gene ENSMUSG00000024515
Gene Name SMAD family member 4
Synonyms Dpc4, D18Wsu70e, DPC4, Smad 4, Madh4
MMRRC Submission 039280-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1211 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 73772080-73836851 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 73782982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025393] [ENSMUST00000114939]
AlphaFold P97471
Predicted Effect probably null
Transcript: ENSMUST00000025393
SMART Domains Protein: ENSMUSP00000025393
Gene: ENSMUSG00000024515

DomainStartEndE-ValueType
DWA 31 140 5.77e-65 SMART
low complexity region 286 299 N/A INTRINSIC
DWB 320 529 1.41e-123 SMART
Predicted Effect probably null
Transcript: ENSMUST00000114939
SMART Domains Protein: ENSMUSP00000110589
Gene: ENSMUSG00000024515

DomainStartEndE-ValueType
DWA 31 140 5.77e-65 SMART
low complexity region 286 299 N/A INTRINSIC
DWB 320 529 1.41e-123 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147315
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.2%
  • 10x: 95.3%
  • 20x: 89.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired formation of extraembryonic membrane and endoderm and die prior to gastrulation. Heterozygotes develop polyposis of the glandular stomach and duodenum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 T C 5: 50,164,218 (GRCm39) M254V possibly damaging Het
Arrdc3 A G 13: 81,038,817 (GRCm39) T40A possibly damaging Het
Cntnap1 C A 11: 101,075,536 (GRCm39) Q905K probably damaging Het
Dclk1 A G 3: 55,288,244 (GRCm39) I256V probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Erlec1 A G 11: 30,898,298 (GRCm39) probably null Het
Gm10160 A T 7: 81,505,497 (GRCm39) Y16N probably benign Het
Gm10608 C CNNNNNNNN 9: 118,989,780 (GRCm39) probably null Het
H2-T13 A T 17: 36,391,965 (GRCm39) V207D probably damaging Het
Kcna4 AGAGGAGGAGGAGGAGGAGG AGAGGAGGAGGAGGAGG 2: 107,125,660 (GRCm39) probably benign Het
Mycbp2 A T 14: 103,357,999 (GRCm39) D4488E probably benign Het
Ndufaf1 A G 2: 119,486,156 (GRCm39) S319P probably damaging Het
Or5h25 A C 16: 58,930,523 (GRCm39) V150G possibly damaging Het
Spaca7 T C 8: 12,623,139 (GRCm39) S12P probably damaging Het
Stx11 A G 10: 12,817,155 (GRCm39) S190P probably damaging Het
Other mutations in Smad4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Smad4 APN 18 73,808,880 (GRCm39) missense probably damaging 1.00
IGL01647:Smad4 APN 18 73,773,544 (GRCm39) splice site probably benign
IGL02055:Smad4 APN 18 73,774,999 (GRCm39) splice site probably benign
IGL02101:Smad4 APN 18 73,791,723 (GRCm39) missense probably benign 0.02
IGL02306:Smad4 APN 18 73,795,940 (GRCm39) critical splice acceptor site probably null
R0391:Smad4 UTSW 18 73,791,720 (GRCm39) missense probably benign
R1118:Smad4 UTSW 18 73,773,333 (GRCm39) missense probably benign 0.41
R1163:Smad4 UTSW 18 73,781,978 (GRCm39) missense probably damaging 0.99
R1616:Smad4 UTSW 18 73,773,333 (GRCm39) missense probably benign 0.41
R1742:Smad4 UTSW 18 73,808,968 (GRCm39) missense probably damaging 1.00
R1829:Smad4 UTSW 18 73,774,965 (GRCm39) missense probably benign 0.20
R2045:Smad4 UTSW 18 73,782,877 (GRCm39) nonsense probably null
R2126:Smad4 UTSW 18 73,795,815 (GRCm39) missense probably benign 0.02
R3013:Smad4 UTSW 18 73,781,975 (GRCm39) missense probably damaging 1.00
R3973:Smad4 UTSW 18 73,810,807 (GRCm39) missense possibly damaging 0.49
R3974:Smad4 UTSW 18 73,810,807 (GRCm39) missense possibly damaging 0.49
R3975:Smad4 UTSW 18 73,810,807 (GRCm39) missense possibly damaging 0.49
R4879:Smad4 UTSW 18 73,774,974 (GRCm39) missense probably damaging 1.00
R5101:Smad4 UTSW 18 73,808,931 (GRCm39) missense probably benign 0.41
R5597:Smad4 UTSW 18 73,795,898 (GRCm39) missense probably benign
R5984:Smad4 UTSW 18 73,810,982 (GRCm39) start codon destroyed probably benign 0.29
R6450:Smad4 UTSW 18 73,810,817 (GRCm39) missense possibly damaging 0.73
R7450:Smad4 UTSW 18 73,810,924 (GRCm39) missense probably damaging 1.00
R7524:Smad4 UTSW 18 73,808,942 (GRCm39) missense probably damaging 1.00
R8001:Smad4 UTSW 18 73,774,881 (GRCm39) missense probably damaging 0.99
R8526:Smad4 UTSW 18 73,790,330 (GRCm39) splice site probably null
R9110:Smad4 UTSW 18 73,782,941 (GRCm39) missense probably damaging 1.00
R9151:Smad4 UTSW 18 73,782,806 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGACATTGGAGAGTTGACCCAAG -3'
(R):5'- AGACCACAGAACAGATGTGCAATCG -3'

Sequencing Primer
(F):5'- GTTGACCCAAGCAAAAGCG -3'
(R):5'- atccacctgtttctgcctc -3'
Posted On 2014-01-15