Incidental Mutation 'IGL02055:Smad4'
ID185220
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smad4
Ensembl Gene ENSMUSG00000024515
Gene NameSMAD family member 4
SynonymsDpc4, Smad 4, Madh4, DPC4, D18Wsu70e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02055
Quality Score
Status
Chromosome18
Chromosomal Location73639009-73703780 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 73641928 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025393] [ENSMUST00000114939]
Predicted Effect probably benign
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 benign
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: ENSMUST00000131339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147315
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,286,631 T1921A probably damaging Het
Ap1b1 T A 11: 5,024,452 C353* probably null Het
Asl C T 5: 130,013,050 G309R possibly damaging Het
B4galnt4 T C 7: 141,070,818 F835S probably damaging Het
Carmil2 A G 8: 105,696,907 probably benign Het
Ccnt2 C A 1: 127,791,710 P116T possibly damaging Het
Clcn1 T G 6: 42,307,555 M609R probably damaging Het
Csmd1 A G 8: 16,069,001 I1858T probably damaging Het
Eefsec T C 6: 88,376,403 I95V probably damaging Het
Galk2 A G 2: 125,931,404 K252R probably benign Het
Gbp2 A T 3: 142,632,230 N369I probably benign Het
Glis2 G T 16: 4,614,108 probably benign Het
Igdcc3 T C 9: 65,181,280 V388A possibly damaging Het
Klhl1 A G 14: 96,280,103 F379S possibly damaging Het
Olfr1448 T A 19: 12,919,566 I248F possibly damaging Het
Pigm C T 1: 172,377,165 S156L probably benign Het
Pikfyve T C 1: 65,238,544 probably null Het
Ppp6r3 A G 19: 3,521,781 F123L probably benign Het
Pum1 C A 4: 130,754,054 S637R probably benign Het
Rp1 A G 1: 4,352,522 S112P probably damaging Het
Serpina3k A T 12: 104,341,036 K176* probably null Het
Tas2r137 T A 6: 40,491,559 F108I probably damaging Het
Tbc1d20 G A 2: 152,308,058 R73H probably damaging Het
Tmem131l T C 3: 83,910,366 probably null Het
Tmem86b A C 7: 4,628,763 probably benign Het
Trav6-4 G A 14: 53,454,780 V115I probably benign Het
Trim37 T G 11: 87,166,649 V303G probably benign Het
Trpc7 C T 13: 56,887,544 R192Q probably benign Het
Ush1g T C 11: 115,318,099 D423G possibly damaging Het
Veph1 T A 3: 66,205,627 D252V possibly damaging Het
Vmn1r181 T G 7: 23,984,553 L148V probably damaging Het
Vmn1r42 T C 6: 89,845,589 probably benign Het
Vmn2r77 T A 7: 86,801,555 H216Q probably benign Het
Zfp39 A G 11: 58,891,330 V202A probably benign Het
Other mutations in Smad4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Smad4 APN 18 73675809 missense probably damaging 1.00
IGL01647:Smad4 APN 18 73640473 splice site probably benign
IGL02101:Smad4 APN 18 73658652 missense probably benign 0.02
IGL02306:Smad4 APN 18 73662869 critical splice acceptor site probably null
R0391:Smad4 UTSW 18 73658649 missense probably benign
R1118:Smad4 UTSW 18 73640262 missense probably benign 0.41
R1163:Smad4 UTSW 18 73648907 missense probably damaging 0.99
R1211:Smad4 UTSW 18 73649911 critical splice acceptor site probably null
R1616:Smad4 UTSW 18 73640262 missense probably benign 0.41
R1742:Smad4 UTSW 18 73675897 missense probably damaging 1.00
R1829:Smad4 UTSW 18 73641894 missense probably benign 0.20
R2045:Smad4 UTSW 18 73649806 nonsense probably null
R2126:Smad4 UTSW 18 73662744 missense probably benign 0.02
R3013:Smad4 UTSW 18 73648904 missense probably damaging 1.00
R3973:Smad4 UTSW 18 73677736 missense possibly damaging 0.49
R3974:Smad4 UTSW 18 73677736 missense possibly damaging 0.49
R3975:Smad4 UTSW 18 73677736 missense possibly damaging 0.49
R4879:Smad4 UTSW 18 73641903 missense probably damaging 1.00
R5101:Smad4 UTSW 18 73675860 missense probably benign 0.41
R5597:Smad4 UTSW 18 73662827 missense probably benign
R5984:Smad4 UTSW 18 73677911 start codon destroyed probably benign 0.29
R6450:Smad4 UTSW 18 73677746 missense possibly damaging 0.73
R7450:Smad4 UTSW 18 73677853 missense probably damaging 1.00
R7524:Smad4 UTSW 18 73675871 missense probably damaging 1.00
R8001:Smad4 UTSW 18 73641810 missense probably damaging 0.99
Posted On2014-05-07