Incidental Mutation 'IGL03346:Smad9'
ID 417452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smad9
Ensembl Gene ENSMUSG00000027796
Gene Name SMAD family member 9
Synonyms SMAD8A, MADH6, SMAD8B, Madh9
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03346
Quality Score
Status
Chromosome 3
Chromosomal Location 54755582-54801257 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54789215 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 234 (Q234K)
Ref Sequence ENSEMBL: ENSMUSP00000029371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029371]
AlphaFold Q9JIW5
Predicted Effect probably benign
Transcript: ENSMUST00000029371
AA Change: Q234K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029371
Gene: ENSMUSG00000027796
AA Change: Q234K

DomainStartEndE-ValueType
DWA 29 138 3.47e-68 SMART
DWB 234 406 1.02e-106 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of a family of proteins that act as downstream effectors of the bone morphogenetic protein (BMP) signaling pathway. The encoded protein is phosphorylated by BMP receptors, which stimulates its binding to SMAD4 and translocation into the nucleus, where it functions as a regulator of transcription. Activity of this protein is important for embryonic development. Mutation of this gene results in defects in pulmonary vasculature. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice in which exon 3 was deleted are viable and fertile. Mutant mice in which a neo cassette is inserted in exon 3 resulting in a hypomorphic allele exhibit reduced midbrain and hindbrain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 C T 16: 29,314,604 V410M probably benign Het
Cdkn2aip G T 8: 47,713,618 D51E probably benign Het
Chd6 A G 2: 160,960,362 V2184A probably benign Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cldn23 G A 8: 35,825,440 probably benign Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Cog5 A T 12: 31,894,038 I641F possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Creg2 T G 1: 39,650,747 D65A probably damaging Het
Dennd4a A G 9: 64,888,526 R711G possibly damaging Het
Efr3b A G 12: 3,984,648 V58A probably damaging Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Gabrg1 A T 5: 70,778,131 Y227N possibly damaging Het
Gins3 A G 8: 95,643,275 I197V probably benign Het
Gm17079 T C 14: 51,692,963 T142A possibly damaging Het
Gm8909 C A 17: 36,168,109 D83Y probably damaging Het
Gna15 T C 10: 81,503,045 Y320C probably damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Klf1 T C 8: 84,902,932 S129P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Nat8f5 A G 6: 85,817,658 S107P probably damaging Het
Olfr331 A G 11: 58,501,755 L267P possibly damaging Het
Olfr938 C A 9: 39,077,961 Q261H probably benign Het
Olfr938 T A 9: 39,077,962 Q261L probably damaging Het
Pcdhb18 G A 18: 37,489,621 M1I probably null Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Polr2g T C 19: 8,798,305 H14R probably damaging Het
Rp1l1 A G 14: 64,029,440 D825G probably benign Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Slc25a54 T C 3: 109,085,730 probably benign Het
Tie1 T C 4: 118,472,828 Y1066C probably damaging Het
Traf1 T C 2: 34,948,472 E118G probably benign Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Uaca C A 9: 60,854,318 T204K probably damaging Het
Utrn A T 10: 12,525,352 Y154N probably benign Het
Virma A G 4: 11,518,984 T694A probably benign Het
Vmn2r50 T C 7: 10,046,002 D500G probably damaging Het
Vmn2r59 T A 7: 42,043,829 H449L probably benign Het
Other mutations in Smad9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Smad9 APN 3 54786172 missense possibly damaging 0.95
IGL02666:Smad9 APN 3 54782467 missense probably damaging 1.00
R1839:Smad9 UTSW 3 54789179 splice site probably benign
R1888:Smad9 UTSW 3 54789179 splice site probably benign
R3622:Smad9 UTSW 3 54789284 missense probably damaging 0.96
R3623:Smad9 UTSW 3 54789284 missense probably damaging 0.96
R3624:Smad9 UTSW 3 54789284 missense probably damaging 0.96
R3708:Smad9 UTSW 3 54786181 missense probably benign
R4469:Smad9 UTSW 3 54782761 missense probably damaging 1.00
R4756:Smad9 UTSW 3 54794453 missense possibly damaging 0.50
R4938:Smad9 UTSW 3 54789230 missense probably benign 0.00
R5139:Smad9 UTSW 3 54797406 missense possibly damaging 0.94
R5783:Smad9 UTSW 3 54794442 missense probably benign 0.15
R6200:Smad9 UTSW 3 54789186 missense probably benign
R6437:Smad9 UTSW 3 54786084 missense probably benign 0.33
R6478:Smad9 UTSW 3 54782443 missense probably damaging 1.00
R6552:Smad9 UTSW 3 54782746 missense probably damaging 1.00
R7058:Smad9 UTSW 3 54786193 missense probably benign 0.01
R7314:Smad9 UTSW 3 54789323 missense probably benign 0.00
R7492:Smad9 UTSW 3 54786326 splice site probably null
R7683:Smad9 UTSW 3 54789264 missense probably damaging 1.00
R8278:Smad9 UTSW 3 54789266 missense probably benign 0.01
R9457:Smad9 UTSW 3 54789335 missense possibly damaging 0.78
Z1177:Smad9 UTSW 3 54786222 missense probably benign
Posted On 2016-08-02