Incidental Mutation 'R4398:Smad7'
ID 325612
Institutional Source Beutler Lab
Gene Symbol Smad7
Ensembl Gene ENSMUSG00000025880
Gene Name SMAD family member 7
Synonyms Madh7
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.939) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 75500600-75529006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75527234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 360 (V360A)
Ref Sequence ENSEMBL: ENSMUSP00000129322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026999] [ENSMUST00000168918] [ENSMUST00000174411]
AlphaFold O35253
Predicted Effect probably damaging
Transcript: ENSMUST00000026999
AA Change: V360A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026999
Gene: ENSMUSG00000025880
AA Change: V360A

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: V360A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129322
Gene: ENSMUSG00000025880
AA Change: V360A

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 damaging
Transcript: ENSMUST00000174411
AA Change: V161A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133696
Gene: ENSMUSG00000025880
AA Change: V161A

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 0.9314 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign 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
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'- CTCAGGGGAATGGCTTTTGC -3'
(R):5'- CTGTTGAAGATGACCTCCAGCC -3'

Sequencing Primer
(F):5'- TCGGACAGCTCAATTCGGAC -3'
(R):5'- TGACCTCCAGCCAGCACG -3'
Posted On 2015-07-06