Incidental Mutation 'R8205:Smad7'
ID 635895
Institutional Source Beutler Lab
Gene Symbol Smad7
Ensembl Gene ENSMUSG00000025880
Gene Name SMAD family member 7
Synonyms Madh7
MMRRC Submission 067628-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R8205 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 75500600-75529006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75527119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 322 (Q322K)
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: Q322K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026999
Gene: ENSMUSG00000025880
AA Change: Q322K

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: Q322K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129322
Gene: ENSMUSG00000025880
AA Change: Q322K

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: Q123K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133696
Gene: ENSMUSG00000025880
AA Change: Q123K

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 0.3187 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,278,080 (GRCm39) V157A probably benign Het
Adamtsl1 A G 4: 86,117,650 (GRCm39) *204W probably null Het
Add2 A G 6: 86,063,899 (GRCm39) E66G probably damaging Het
Adgrd1 A G 5: 129,192,175 (GRCm39) T114A possibly damaging Het
Aldh7a1 A T 18: 56,678,070 (GRCm39) I247N probably damaging Het
Ankrd13d A T 19: 4,331,009 (GRCm39) M166K probably damaging Het
Brd7 A G 8: 89,070,243 (GRCm39) F388L probably damaging Het
Cap2 G A 13: 46,768,739 (GRCm39) V182M probably damaging Het
Col22a1 A T 15: 71,732,918 (GRCm39) V1100E unknown Het
Cracdl T C 1: 37,664,047 (GRCm39) D617G probably benign Het
Crisp2 T C 17: 41,095,969 (GRCm39) E63G possibly damaging Het
Dst T G 1: 34,253,685 (GRCm39) W2304G probably damaging Het
Eif2a A C 3: 58,456,156 (GRCm39) N385T probably damaging Het
Eif4ebp2 A T 10: 61,270,704 (GRCm39) H108Q probably benign Het
Fgd3 T C 13: 49,449,823 (GRCm39) D142G probably benign Het
Gbp8 T A 5: 105,198,846 (GRCm39) H23L probably benign Het
Glt1d1 A G 5: 127,768,080 (GRCm39) E229G probably benign Het
Gpatch8 T C 11: 102,371,213 (GRCm39) D775G unknown Het
Heatr1 T C 13: 12,430,928 (GRCm39) Y1008H probably benign Het
Heatr5a T A 12: 52,005,792 (GRCm39) N61I probably benign Het
Hydin A T 8: 111,319,270 (GRCm39) H4391L possibly damaging Het
Ifi206 T C 1: 173,309,450 (GRCm39) E182G Het
Mbtps1 A G 8: 120,247,077 (GRCm39) S789P probably damaging Het
Mex3a T C 3: 88,444,159 (GRCm39) S412P possibly damaging Het
Msantd5f1 G A 4: 73,605,542 (GRCm39) V318I possibly damaging Het
Mup2 T A 4: 60,137,659 (GRCm39) D128V probably benign Het
Ndufaf7 G A 17: 79,254,461 (GRCm39) C418Y probably benign Het
Nlrp4a A G 7: 26,150,219 (GRCm39) S609G probably benign Het
Obscn T A 11: 58,898,697 (GRCm39) Y6554F unknown Het
Odf2l A G 3: 144,856,495 (GRCm39) probably benign Het
Or14j2 A T 17: 37,885,892 (GRCm39) C141S probably damaging Het
Or1o11 T C 17: 37,757,180 (GRCm39) V245A probably damaging Het
Or4c104 A T 2: 88,587,016 (GRCm39) M1K probably null Het
Plod2 G T 9: 92,424,371 (GRCm39) probably benign Het
Ptgfr A G 3: 151,541,418 (GRCm39) V30A probably benign Het
Pxdn T G 12: 30,056,566 (GRCm39) L1259R probably damaging Het
Rnf6 A G 5: 146,147,714 (GRCm39) S435P probably damaging Het
Sacm1l G A 9: 123,415,724 (GRCm39) probably null Het
Scgb2b26 T C 7: 33,643,833 (GRCm39) T36A probably benign Het
Slc1a7 A G 4: 107,865,508 (GRCm39) N332S probably benign Het
Slfn5 T C 11: 82,851,544 (GRCm39) F614L probably benign Het
Smap1 T C 1: 23,888,507 (GRCm39) T253A probably benign Het
Socs5 G T 17: 87,441,138 (GRCm39) R26L probably benign Het
Steap4 A T 5: 8,026,795 (GRCm39) I253F possibly damaging Het
Tacc1 G A 8: 25,672,803 (GRCm39) H142Y probably benign Het
Tent5c A G 3: 100,380,138 (GRCm39) F206S probably benign Het
Tmem117 G A 15: 94,992,679 (GRCm39) M446I probably benign Het
Trav7-6 G A 14: 53,954,550 (GRCm39) D47N probably benign Het
Trim2 C A 3: 84,100,646 (GRCm39) A162S probably damaging Het
Ttc28 A G 5: 111,373,596 (GRCm39) I1011V possibly damaging Het
Vmn2r98 T C 17: 19,301,425 (GRCm39) V809A probably damaging Het
Wfikkn1 T A 17: 26,097,071 (GRCm39) T418S probably benign Het
Zbtb41 T A 1: 139,356,919 (GRCm39) D391E possibly damaging Het
Zfp109 G A 7: 23,928,635 (GRCm39) S266F 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
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'- CAACTTCTTCTGGAGCCTGG -3'
(R):5'- ATGAACTCGTGGTCATTGGGC -3'

Sequencing Primer
(F):5'- ATCGGTCACACTGGTGCG -3'
(R):5'- TCATTGGGCCGCTGCAG -3'
Posted On 2020-07-13