Incidental Mutation 'R0053:Tgfb3'
Institutional Source Beutler Lab
Gene Symbol Tgfb3
Ensembl Gene ENSMUSG00000021253
Gene Nametransforming growth factor, beta 3
MMRRC Submission 038347-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0053 (G1)
Quality Score94
Status Validated
Chromosomal Location86056745-86079041 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86077829 bp
Amino Acid Change Isoleucine to Asparagine at position 35 (I35N)
Ref Sequence ENSEMBL: ENSMUSP00000003687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003687] [ENSMUST00000054565] [ENSMUST00000222821] [ENSMUST00000222905]
Predicted Effect probably damaging
Transcript: ENSMUST00000003687
AA Change: I35N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: I35N

low complexity region 8 18 N/A INTRINSIC
Pfam:TGFb_propeptide 23 281 2.7e-38 PFAM
TGFB 315 412 5.35e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054565
SMART Domains Protein: ENSMUSP00000061891
Gene: ENSMUSG00000007867

Pfam:IFT43 53 180 4.5e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222693
Predicted Effect probably benign
Transcript: ENSMUST00000222821
Predicted Effect probably benign
Transcript: ENSMUST00000222905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223269
Meta Mutation Damage Score 0.5571 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.5%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Homozygous knockout mice for this gene exhibit cleft palate, delayed pulmonary development and neonatal death. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cleft palate, lung hypoplasia, hemothorax, impaired suckling, respiratory distress, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T A 6: 149,327,590 D711E probably benign Het
5730559C18Rik C T 1: 136,227,550 V106I probably benign Het
Ada A T 2: 163,732,292 V148D probably damaging Het
Alpi T C 1: 87,098,790 D493G probably benign Het
Atp10b A G 11: 43,216,564 probably benign Het
AY761185 A T 8: 20,944,530 probably benign Het
BC067074 T C 13: 113,368,489 W2051R probably benign Het
Cadm1 C T 9: 47,799,414 T205I probably damaging Het
Capn3 A G 2: 120,491,837 I413V possibly damaging Het
Cblb C T 16: 52,142,801 T369I probably damaging Het
Ccdc54 T A 16: 50,590,234 N223I probably benign Het
Cdc25c A G 18: 34,735,435 V294A probably benign Het
Cep170 A T 1: 176,782,380 S122T possibly damaging Het
Chd1 A G 17: 15,747,189 N849D probably damaging Het
Dpp3 A G 19: 4,923,126 C147R probably damaging Het
Dst A G 1: 34,294,550 probably null Het
Fbxw9 T A 8: 85,064,454 L250Q probably damaging Het
Gpr75 A T 11: 30,892,571 Q492L possibly damaging Het
Gramd4 T A 15: 86,130,138 probably benign Het
Hivep2 T C 10: 14,132,121 C1488R probably damaging Het
Hjurp G C 1: 88,277,215 probably benign Het
Insr A G 8: 3,155,683 S1369P probably damaging Het
Insrr A C 3: 87,800,452 D67A probably damaging Het
Irf2 T A 8: 46,818,851 Y158N probably benign Het
Katnbl1 A G 2: 112,404,241 R23G probably benign Het
Lamb2 T A 9: 108,486,737 C987* probably null Het
Lzts2 T C 19: 45,026,307 probably benign Het
Mmp14 T A 14: 54,438,652 probably benign Het
Mycbpap A G 11: 94,511,736 Y258H probably damaging Het
Nav3 A G 10: 109,766,917 probably benign Het
Olfr1186 T A 2: 88,526,163 N193K probably damaging Het
Olfr1406 T C 1: 173,184,278 D52G probably benign Het
Parp10 T A 15: 76,242,246 L247F probably damaging Het
Pcsk6 C T 7: 65,983,703 probably benign Het
Pgap3 A T 11: 98,391,098 V129D probably damaging Het
Pibf1 A G 14: 99,140,557 Y373C probably damaging Het
Plcb1 A G 2: 135,294,915 E310G probably benign Het
Plin3 T C 17: 56,279,892 D385G probably damaging Het
Pole A T 5: 110,293,340 D220V probably damaging Het
Ptprk T A 10: 28,475,109 F533I probably damaging Het
Rufy1 A T 11: 50,401,465 M499K probably benign Het
Scn1a T G 2: 66,299,775 D1232A probably benign Het
Sec23ip T C 7: 128,745,167 L49P probably damaging Het
Sf3b1 G A 1: 55,000,373 Q698* probably null Het
Shprh A T 10: 11,194,372 probably null Het
Snd1 C A 6: 28,745,335 probably benign Het
Stab1 C T 14: 31,140,687 A2260T possibly damaging Het
Stpg2 A G 3: 139,212,321 Q60R probably benign Het
Strn T C 17: 78,656,934 H687R possibly damaging Het
Tnks2 T C 19: 36,875,365 S166P probably damaging Het
Tyw5 G A 1: 57,401,438 T55M probably damaging Het
Usp19 A G 9: 108,497,170 probably null Het
Zfp13 A T 17: 23,576,148 I483N probably damaging Het
Other mutations in Tgfb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02609:Tgfb3 APN 12 86077839 missense probably benign
IGL02899:Tgfb3 APN 12 86069776 missense probably damaging 1.00
IGL03276:Tgfb3 APN 12 86057868 missense probably damaging 0.99
R0050:Tgfb3 UTSW 12 86069884 missense possibly damaging 0.85
R0053:Tgfb3 UTSW 12 86077829 missense probably damaging 1.00
R0976:Tgfb3 UTSW 12 86069832 missense probably damaging 1.00
R1460:Tgfb3 UTSW 12 86059067 intron probably benign
R1474:Tgfb3 UTSW 12 86069346 critical splice donor site probably null
R1686:Tgfb3 UTSW 12 86069743 splice site probably benign
R1826:Tgfb3 UTSW 12 86062044 missense probably benign 0.04
R2105:Tgfb3 UTSW 12 86069769 missense possibly damaging 0.91
R2294:Tgfb3 UTSW 12 86069910 missense probably benign 0.17
R3159:Tgfb3 UTSW 12 86058986 missense probably damaging 1.00
R4590:Tgfb3 UTSW 12 86077815 missense possibly damaging 0.59
R4866:Tgfb3 UTSW 12 86077814 missense possibly damaging 0.95
R4868:Tgfb3 UTSW 12 86062181 missense probably benign 0.02
R5104:Tgfb3 UTSW 12 86058982 missense possibly damaging 0.94
R6030:Tgfb3 UTSW 12 86063850 missense probably benign 0.03
R6030:Tgfb3 UTSW 12 86063850 missense probably benign 0.03
R6213:Tgfb3 UTSW 12 86057847 missense probably damaging 1.00
R6257:Tgfb3 UTSW 12 86077841 missense possibly damaging 0.94
R6331:Tgfb3 UTSW 12 86063864 missense probably benign 0.03
R6762:Tgfb3 UTSW 12 86069463 missense probably benign 0.00
R7473:Tgfb3 UTSW 12 86062149 missense possibly damaging 0.92
Predicted Primers PCR Primer

Sequencing Primer
Posted On2013-08-06