Incidental Mutation 'R0790:Smad7'
ID 76456
Institutional Source Beutler Lab
Gene Symbol Smad7
Ensembl Gene ENSMUSG00000025880
Gene Name SMAD family member 7
Synonyms Madh7
MMRRC Submission 038970-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R0790 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 75500600-75529006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75526933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 260 (H260Y)
Ref Sequence ENSEMBL: ENSMUSP00000129322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026999] [ENSMUST00000168918] [ENSMUST00000174411]
AlphaFold O35253
Predicted Effect probably benign
Transcript: ENSMUST00000026999
AA Change: H260Y

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000026999
Gene: ENSMUSG00000025880
AA Change: H260Y

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: H260Y

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129322
Gene: ENSMUSG00000025880
AA Change: H260Y

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: H61Y

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000133696
Gene: ENSMUSG00000025880
AA Change: H61Y

DomainStartEndE-ValueType
DWB 60 225 2.46e-82 SMART
Predicted Effect unknown
Transcript: ENSMUST00000174843
AA Change: H223Y
SMART Domains Protein: ENSMUSP00000133544
Gene: ENSMUSG00000025880
AA Change: H223Y

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 0.1621 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.0%
Validation Efficiency 100% (41/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob A G 12: 8,060,245 (GRCm39) E2876G probably damaging Het
Arhgef28 A G 13: 98,117,914 (GRCm39) S585P possibly damaging Het
Atp11b T A 3: 35,887,072 (GRCm39) N685K probably damaging Het
Camsap2 C T 1: 136,201,475 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,316,935 (GRCm39) probably benign Het
Cdc23 A G 18: 34,784,666 (GRCm39) I32T possibly damaging Het
Cdca2 C T 14: 67,917,740 (GRCm39) D553N probably benign Het
Chd8 T C 14: 52,441,482 (GRCm39) D870G probably benign Het
Chit1 T G 1: 134,066,490 (GRCm39) V2G probably benign Het
Col4a4 G A 1: 82,502,717 (GRCm39) P356S unknown Het
Cpsf4l A G 11: 113,597,234 (GRCm39) probably benign Het
Etaa1 G T 11: 17,896,051 (GRCm39) Q689K probably benign Het
Fam83h C T 15: 75,875,241 (GRCm39) V699I probably benign Het
Fry A G 5: 150,389,902 (GRCm39) D2545G probably benign Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Kif5a T C 10: 127,081,878 (GRCm39) probably benign Het
Lifr A G 15: 7,215,196 (GRCm39) T768A probably benign Het
Mrap2 T C 9: 87,064,835 (GRCm39) L192P possibly damaging Het
Myo18a G A 11: 77,731,535 (GRCm39) R840Q possibly damaging Het
Myrfl T C 10: 116,653,693 (GRCm39) D458G probably damaging Het
Or12j4 T C 7: 140,046,962 (GRCm39) S283P possibly damaging Het
Or51s1 A G 7: 102,558,843 (GRCm39) Y68H probably benign Het
Pcdh15 A G 10: 74,466,885 (GRCm39) E1034G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plcb2 G A 2: 118,542,964 (GRCm39) probably benign Het
Psmd1 T C 1: 86,005,172 (GRCm39) V202A possibly damaging Het
Raet1d T C 10: 22,246,795 (GRCm39) I41T probably damaging Het
Retnlb T A 16: 48,637,589 (GRCm39) L5Q possibly damaging Het
Sh3rf1 T C 8: 61,782,292 (GRCm39) Y145H probably damaging Het
Stk10 T C 11: 32,548,653 (GRCm39) V407A probably benign Het
Synpo A G 18: 60,736,575 (GRCm39) V218A probably damaging Het
Tll2 T A 19: 41,092,289 (GRCm39) Y499F probably damaging Het
Vrk1 C T 12: 106,036,883 (GRCm39) P390S probably benign Het
Zfp748 A C 13: 67,693,481 (GRCm39) L64W probably benign Het
Other mutations in Smad7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- TGGGGACACTCCACATGAATGCAC -3'
(R):5'- CCTTGATGGAGAAACCAGGGAACAC -3'

Sequencing Primer
(F):5'- GCACCGTGTACAAATGTGTC -3'
(R):5'- ACCAGGGAACACTTTGTGC -3'
Posted On 2013-10-16