Incidental Mutation 'R9132:Smad6'
ID 693712
Institutional Source Beutler Lab
Gene Symbol Smad6
Ensembl Gene ENSMUSG00000036867
Gene Name SMAD family member 6
Synonyms b2b390Clo, Madh6, Smad 6
MMRRC Submission 068929-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # R9132 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 63860358-63929341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 63914870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 300 (S300A)
Ref Sequence ENSEMBL: ENSMUSP00000036285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041029]
AlphaFold O35182
Predicted Effect probably benign
Transcript: ENSMUST00000041029
AA Change: S300A

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036285
Gene: ENSMUSG00000036867
AA Change: S300A

DomainStartEndE-ValueType
Blast:DWA 2 143 9e-43 BLAST
DWA 168 274 1.17e-51 SMART
DWB 330 492 3.62e-89 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (65/67)
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 family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hyperplasia of cardiac valves, septation defects, and usually, postnatal lethality. Survivors develop aortic ossification and hypertension as adults. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AC133488.1 A T 16: 18,440,075 (GRCm39) V363E probably benign Het
Adamts16 A G 13: 70,901,408 (GRCm39) S890P probably benign Het
Amd1 A G 10: 40,169,158 (GRCm39) probably null Het
Apcs A G 1: 172,722,061 (GRCm39) I95T probably damaging Het
Arhgap18 A G 10: 26,730,886 (GRCm39) D188G probably benign Het
Arhgap42 C T 9: 9,011,419 (GRCm39) V456M probably damaging Het
Atp2a2 T C 5: 122,599,633 (GRCm39) Y586C probably damaging Het
Cbr1 G C 16: 93,406,794 (GRCm39) G170A probably benign Het
Cdh23 T A 10: 60,270,283 (GRCm39) probably benign Het
Cfap53 T A 18: 74,416,272 (GRCm39) Y2N probably damaging Het
Clcn3 A G 8: 61,382,136 (GRCm39) I511T probably damaging Het
Col28a1 T A 6: 8,014,993 (GRCm39) D804V probably damaging Het
Csmd2 A G 4: 128,443,007 (GRCm39) T3253A Het
Csta3 G A 16: 36,038,069 (GRCm39) V69I probably benign Het
Cyp2c40 A T 19: 39,762,317 (GRCm39) D443E probably damaging Het
Cyp7b1 A G 3: 18,151,476 (GRCm39) C246R probably benign Het
Dmxl1 C G 18: 50,072,639 (GRCm39) N2744K probably damaging Het
Dnai4 A G 4: 102,916,930 (GRCm39) M592T probably damaging Het
Dpyd T A 3: 118,710,897 (GRCm39) I435N probably damaging Het
Fat2 A T 11: 55,189,436 (GRCm39) L1194Q possibly damaging Het
Firrm A G 1: 163,814,514 (GRCm39) I143T probably damaging Het
Gabrg1 A T 5: 70,939,622 (GRCm39) I170N possibly damaging Het
Gon4l C T 3: 88,815,484 (GRCm39) P2016S probably benign Het
Hax1 T C 3: 89,903,127 (GRCm39) R251G probably damaging Het
Hbq1b A T 11: 32,237,228 (GRCm39) K41* probably null Het
Ido2 G A 8: 25,023,933 (GRCm39) P302S probably damaging Het
Igf2bp2 G A 16: 21,900,502 (GRCm39) T213I probably damaging Het
Itga2 A T 13: 115,014,298 (GRCm39) L210* probably null Het
Kdm1b G A 13: 47,225,458 (GRCm39) S547N probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Lyz2 A T 10: 117,116,562 (GRCm39) C95* probably null Het
Mafa A T 15: 75,619,048 (GRCm39) S242T possibly damaging Het
Mapk1 T C 16: 16,856,300 (GRCm39) probably null Het
Mta1 T A 12: 113,100,025 (GRCm39) V645E probably damaging Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Naa35 T C 13: 59,772,341 (GRCm39) I438T possibly damaging Het
Necab2 T C 8: 120,189,303 (GRCm39) Y158H probably damaging Het
Nphp3 T A 9: 103,897,980 (GRCm39) L523Q probably damaging Het
Ogdh A T 11: 6,290,488 (GRCm39) I369F probably benign Het
Pglyrp4 C T 3: 90,635,238 (GRCm39) Q28* probably null Het
Pla2g4a C T 1: 149,747,230 (GRCm39) V319I probably benign Het
Plk3 ACACTCAC ACAC 4: 116,989,090 (GRCm39) probably benign Het
Prdm6 C A 18: 53,598,019 (GRCm39) A127D unknown Het
Prop1 T G 11: 50,843,037 (GRCm39) E50A Het
Ripk1 A G 13: 34,212,184 (GRCm39) N498S probably benign Het
Rnf213 A G 11: 119,374,742 (GRCm39) N5069S Het
Saa3 T C 7: 46,362,121 (GRCm39) D41G probably damaging Het
Setd2 T C 9: 110,374,385 (GRCm39) probably null Het
Shbg G A 11: 69,506,430 (GRCm39) L327F probably benign Het
Slc12a5 G A 2: 164,835,876 (GRCm39) probably benign Het
Slc1a4 C T 11: 20,258,527 (GRCm39) G304D probably damaging Het
Slf1 T C 13: 77,249,073 (GRCm39) K372E probably benign Het
Smad2 T A 18: 76,395,573 (GRCm39) I4N possibly damaging Het
Spata31h1 T C 10: 82,127,896 (GRCm39) T1705A possibly damaging Het
Spem2 T A 11: 69,707,414 (GRCm39) probably benign Het
Syde1 T C 10: 78,425,340 (GRCm39) S224G probably benign Het
Tacc1 A T 8: 25,672,151 (GRCm39) V359E possibly damaging Het
Tex15 T G 8: 34,067,554 (GRCm39) V2328G possibly damaging Het
Tmem43 A C 6: 91,459,291 (GRCm39) D254A probably benign Het
Trav6d-3 T A 14: 52,964,210 (GRCm39) Y58N possibly damaging Het
Trrap A G 5: 144,726,362 (GRCm39) E437G probably benign Het
Wars1 A G 12: 108,827,199 (GRCm39) F474L probably benign Het
Zfp169 T C 13: 48,644,557 (GRCm39) E190G unknown Het
Zfp541 T A 7: 15,816,966 (GRCm39) V918D probably benign Het
Zfp747 T C 7: 126,974,922 (GRCm39) D26G probably damaging Het
Other mutations in Smad6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Smad6 APN 9 63,861,263 (GRCm39) missense probably damaging 1.00
IGL02419:Smad6 APN 9 63,860,800 (GRCm39) utr 3 prime probably benign
IGL02511:Smad6 APN 9 63,860,859 (GRCm39) missense probably damaging 1.00
R3975:Smad6 UTSW 9 63,928,212 (GRCm39) missense probably benign
R5010:Smad6 UTSW 9 63,861,182 (GRCm39) missense possibly damaging 0.76
R6791:Smad6 UTSW 9 63,919,509 (GRCm39) missense probably benign
R7155:Smad6 UTSW 9 63,929,069 (GRCm39) missense unknown
R7205:Smad6 UTSW 9 63,927,688 (GRCm39) missense probably damaging 1.00
R7573:Smad6 UTSW 9 63,929,052 (GRCm39) missense unknown
R8053:Smad6 UTSW 9 63,927,789 (GRCm39) missense probably damaging 1.00
R9258:Smad6 UTSW 9 63,927,573 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTTCCCATTTACAGAGTAGGC -3'
(R):5'- TCCAGAGTGACATCAGAAACTTG -3'

Sequencing Primer
(F):5'- CCCATTTACAGAGTAGGCAAATAAG -3'
(R):5'- CCTGCAATCTCAGCATTTAGGAGG -3'
Posted On 2022-01-20