Incidental Mutation 'R8460:Smad7'
ID 655247
Institutional Source Beutler Lab
Gene Symbol Smad7
Ensembl Gene ENSMUSG00000025880
Gene Name SMAD family member 7
Synonyms Madh7
MMRRC Submission 067905-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R8460 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 75500600-75529006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75503968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 206 (S206P)
Ref Sequence ENSEMBL: ENSMUSP00000026999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026999] [ENSMUST00000168918] [ENSMUST00000174411]
AlphaFold O35253
Predicted Effect probably damaging
Transcript: ENSMUST00000026999
AA Change: S206P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026999
Gene: ENSMUSG00000025880
AA Change: S206P

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 damaging
Transcript: ENSMUST00000168918
AA Change: S206P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129322
Gene: ENSMUSG00000025880
AA Change: S206P

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 damaging
Transcript: ENSMUST00000174411
AA Change: S7P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133696
Gene: ENSMUSG00000025880
AA Change: S7P

DomainStartEndE-ValueType
DWB 60 225 2.46e-82 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000133544
Gene: ENSMUSG00000025880
AA Change: S194P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
6030458C11Rik T C 15: 12,818,545 (GRCm39) probably benign Het
Abcb11 T C 2: 69,154,381 (GRCm39) M62V possibly damaging Het
Adgrf5 C A 17: 43,750,699 (GRCm39) probably benign Het
Arhgap23 T A 11: 97,343,197 (GRCm39) V493D probably damaging Het
Atg9b T C 5: 24,591,966 (GRCm39) K678E probably damaging Het
Catsperg2 T C 7: 29,404,744 (GRCm39) D773G possibly damaging Het
Cd180 T C 13: 102,839,354 (GRCm39) L79P probably damaging Het
Celsr2 C T 3: 108,304,093 (GRCm39) S2350N possibly damaging Het
Cep85l C A 10: 53,225,313 (GRCm39) R92L probably benign Het
Cyp21a1 T C 17: 35,021,844 (GRCm39) D241G probably benign Het
Dock2 C A 11: 34,180,825 (GRCm39) probably null Het
Fam163a A G 1: 155,955,712 (GRCm39) Y27H probably damaging Het
Gmnc G A 16: 26,779,204 (GRCm39) L274F probably benign Het
Gpc2 A T 5: 138,274,891 (GRCm39) C283S probably damaging Het
Grm5 A G 7: 87,252,249 (GRCm39) I166M probably damaging Het
Ighv3-1 A T 12: 113,928,056 (GRCm39) L101* probably null Het
Impact C T 18: 13,109,564 (GRCm39) S86L probably benign Het
Kif1b C T 4: 149,272,077 (GRCm39) V1575I possibly damaging Het
Klhl6 A G 16: 19,775,781 (GRCm39) V259A probably damaging Het
Krt81 G T 15: 101,361,493 (GRCm39) A29E probably damaging Het
Ldah A G 12: 8,318,548 (GRCm39) N219S probably benign Het
Map3k12 C T 15: 102,410,032 (GRCm39) R581Q probably damaging Het
Marveld3 T C 8: 110,681,040 (GRCm39) D285G probably benign Het
Mcpt2 A G 14: 56,281,201 (GRCm39) D135G possibly damaging Het
Megf6 T A 4: 154,350,634 (GRCm39) C1048* probably null Het
Megf9 A T 4: 70,374,208 (GRCm39) V276D probably damaging Het
Nfya T C 17: 48,698,974 (GRCm39) H273R possibly damaging Het
Olah T A 2: 3,362,762 (GRCm39) Q21H probably damaging Het
Or10s1 T C 9: 39,986,353 (GRCm39) L254P probably damaging Het
Or51t4 T A 7: 102,598,531 (GRCm39) C286* probably null Het
Or7g21 T C 9: 19,032,988 (GRCm39) S243P probably damaging Het
Or8b47 A T 9: 38,427,926 (GRCm39) probably benign Het
Or8k23 T G 2: 86,186,198 (GRCm39) H176P probably damaging Het
Or9s23 T A 1: 92,501,268 (GRCm39) M125K probably damaging Het
Pcdhgb6 T A 18: 37,877,278 (GRCm39) L662Q possibly damaging Het
Pou4f3 T C 18: 42,529,053 (GRCm39) M332T probably damaging Het
Pramel19 C T 4: 101,798,424 (GRCm39) P132S probably benign Het
Pramel58 T A 5: 94,831,790 (GRCm39) C266S probably benign Het
Prg4 G A 1: 150,331,692 (GRCm39) S327L possibly damaging Het
Rdh5 C T 10: 128,754,136 (GRCm39) R99H probably benign Het
Setd1a T C 7: 127,383,292 (GRCm39) F263L unknown Het
Setd2 A G 9: 110,423,338 (GRCm39) N353S Het
Sh3gl1 T C 17: 56,326,321 (GRCm39) N109S probably benign Het
Sidt1 A T 16: 44,107,705 (GRCm39) Y188* probably null Het
Slc25a13 A T 6: 6,073,513 (GRCm39) N448K probably damaging Het
Slc44a5 G A 3: 153,975,667 (GRCm39) V693M probably benign Het
Snx33 T A 9: 56,833,476 (GRCm39) I198F possibly damaging Het
Vps13d A T 4: 144,897,009 (GRCm39) probably benign Het
Vps33b T C 7: 79,937,617 (GRCm39) V455A probably benign Het
Zdbf2 CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG CGCTCCGTGCCCCCCGCG 1: 63,348,729 (GRCm39) probably benign Het
Zfp26 A T 9: 20,348,373 (GRCm39) H730Q probably damaging Het
Other mutations in Smad7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0790:Smad7 UTSW 18 75,526,933 (GRCm39) missense probably benign 0.06
R1327:Smad7 UTSW 18 75,509,016 (GRCm39) missense probably benign 0.27
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
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'- ACCCTAGAGACTGTTCCGTG -3'
(R):5'- CTTCCGTCACACAGTTCAAATGC -3'

Sequencing Primer
(F):5'- GCGGCCTCTTTTGTTTATCTGACAG -3'
(R):5'- CAAACTGTAAAACGTATCTGGGG -3'
Posted On 2020-10-20