Incidental Mutation 'R1327:Smad7'
ID 244121
Institutional Source Beutler Lab
Gene Symbol Smad7
Ensembl Gene ENSMUSG00000025880
Gene Name SMAD family member 7
Synonyms Madh7
MMRRC Submission 039393-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R1327 (G1)
Quality Score 36
Status Validated
Chromosome 18
Chromosomal Location 75500600-75529006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75509016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 48 (S48P)
Ref Sequence ENSEMBL: ENSMUSP00000133696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026999] [ENSMUST00000168918] [ENSMUST00000174411]
AlphaFold O35253
Predicted Effect probably benign
Transcript: ENSMUST00000026999
AA Change: S247P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000026999
Gene: ENSMUSG00000025880
AA Change: S247P

DomainStartEndE-ValueType
low complexity region 20 65 N/A INTRINSIC
DWA 87 205 5.36e-51 SMART
DWB 259 424 2.46e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168918
AA Change: S247P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129322
Gene: ENSMUSG00000025880
AA Change: S247P

DomainStartEndE-ValueType
low complexity region 20 65 N/A INTRINSIC
DWA 87 205 5.36e-51 SMART
DWB 259 424 2.46e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172718
Predicted Effect probably benign
Transcript: ENSMUST00000174411
AA Change: S48P

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133696
Gene: ENSMUSG00000025880
AA Change: S48P

DomainStartEndE-ValueType
DWB 60 225 2.46e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174843
SMART Domains Protein: ENSMUSP00000133544
Gene: ENSMUSG00000025880

DomainStartEndE-ValueType
low complexity region 9 54 N/A INTRINSIC
DWA 76 194 5.36e-51 SMART
Pfam:MH2 222 264 4.3e-7 PFAM
Meta Mutation Damage Score 0.3021 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 88.1%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele display partial penetrance of prenatal lethality, reduced body size and weight, smaller litter size and B cell abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 T C 1: 180,560,748 (GRCm39) F99L possibly damaging Het
Arg1 T C 10: 24,796,702 (GRCm39) probably null Het
Bsnd C T 4: 106,343,809 (GRCm39) E166K probably benign Het
Cxcl9 A G 5: 92,474,709 (GRCm39) C30R probably damaging Het
Ect2l C T 10: 18,041,290 (GRCm39) R296H probably benign Het
Epha5 C A 5: 84,254,644 (GRCm39) D632Y probably damaging Het
Fbxw11 T C 11: 32,661,859 (GRCm39) Y79H probably benign Het
Fh1 A G 1: 175,437,310 (GRCm39) M263T probably benign Het
Mrgprb1 A T 7: 48,097,177 (GRCm39) I245N possibly damaging Het
Ms4a13 A T 19: 11,161,251 (GRCm39) I96N probably damaging Het
Nipa2 G A 7: 55,594,256 (GRCm39) L38F possibly damaging Het
Pappa T A 4: 65,269,840 (GRCm39) probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf111 A T 9: 70,361,098 (GRCm39) D454E possibly damaging Het
Rp1 C T 1: 4,418,193 (GRCm39) G973D probably benign Het
Rtn3 A G 19: 7,408,376 (GRCm39) V922A possibly damaging Het
Setbp1 T C 18: 78,826,573 (GRCm39) M1347V probably benign Het
Slc6a6 A G 6: 91,703,016 (GRCm39) I130V probably benign Het
Star A G 8: 26,299,865 (GRCm39) D69G probably benign Het
Syne1 C A 10: 4,998,925 (GRCm39) probably benign Het
Synj1 A T 16: 90,743,743 (GRCm39) N1212K probably benign Het
Tep1 T C 14: 51,090,556 (GRCm39) M721V probably benign Het
Txndc11 T C 16: 10,934,678 (GRCm39) D223G possibly damaging Het
Vit G A 17: 78,932,629 (GRCm39) D579N probably damaging Het
Zan T C 5: 137,464,173 (GRCm39) probably benign Het
Zfp1005 A T 2: 150,108,070 (GRCm39) H10L possibly damaging Het
Zfp318 A G 17: 46,724,189 (GRCm39) E2064G probably damaging Het
Zftraf1 T A 15: 76,533,376 (GRCm39) T121S probably damaging Het
Zic5 T G 14: 122,697,191 (GRCm39) probably benign Het
Zzef1 T C 11: 72,784,240 (GRCm39) probably null Het
Other mutations in Smad7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0790:Smad7 UTSW 18 75,526,933 (GRCm39) missense probably benign 0.06
R2026:Smad7 UTSW 18 75,527,225 (GRCm39) missense probably damaging 1.00
R4398:Smad7 UTSW 18 75,527,234 (GRCm39) missense probably damaging 1.00
R7564:Smad7 UTSW 18 75,526,906 (GRCm39) missense probably benign 0.19
R8018:Smad7 UTSW 18 75,502,355 (GRCm39) missense possibly damaging 0.58
R8064:Smad7 UTSW 18 75,527,153 (GRCm39) missense probably damaging 1.00
R8205:Smad7 UTSW 18 75,527,119 (GRCm39) missense probably damaging 0.98
R8460:Smad7 UTSW 18 75,503,968 (GRCm39) missense probably damaging 1.00
R9258:Smad7 UTSW 18 75,527,317 (GRCm39) missense probably damaging 0.99
R9279:Smad7 UTSW 18 75,502,547 (GRCm39) missense possibly damaging 0.74
R9699:Smad7 UTSW 18 75,527,161 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTGTGATTGAGCCTGACCTGAC -3'
(R):5'- AACACAGTTCCCAGGTGACTCCAG -3'

Sequencing Primer
(F):5'- GATTGAGCCTGACCTGACTAATG -3'
(R):5'- ATGGGCAAGGTTCTGGCAC -3'
Posted On 2014-10-17