Incidental Mutation 'IGL02899:Tgfb3'
ID363513
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgfb3
Ensembl Gene ENSMUSG00000021253
Gene Nametransforming growth factor, beta 3
SynonymsTgfb-3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02899
Quality Score
Status
Chromosome12
Chromosomal Location86056745-86079041 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 86069776 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 163 (R163C)
Ref Sequence ENSEMBL: ENSMUSP00000003687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003687]
Predicted Effect probably damaging
Transcript: ENSMUST00000003687
AA Change: R163C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: R163C

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000192206
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik C A 9: 103,277,574 V173L probably damaging Het
Arfgef2 A G 2: 166,869,051 probably benign Het
Btbd7 A G 12: 102,837,662 L373P probably damaging Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 A T 19: 56,793,488 I753N probably benign Het
Ccser2 G A 14: 36,940,759 T156I probably benign Het
Celsr1 A G 15: 86,031,726 M682T probably damaging Het
Cep97 C A 16: 55,918,540 S267I probably damaging Het
Dhx35 A G 2: 158,801,450 Y39C probably damaging Het
Dscam A T 16: 96,709,247 D937E probably damaging Het
Elmod2 A G 8: 83,316,933 Y202H probably damaging Het
Fyco1 T C 9: 123,830,331 N260S possibly damaging Het
Gm5591 A G 7: 38,519,418 L677P probably damaging Het
Gmppa A G 1: 75,441,830 probably null Het
Hltf C T 3: 20,099,817 T639I probably damaging Het
Kpnb1 T C 11: 97,175,786 Y321C probably damaging Het
Lgr4 G A 2: 109,918,253 G45R probably damaging Het
Ltn1 T C 16: 87,382,659 D1538G probably benign Het
Maf1 T A 15: 76,353,020 probably benign Het
Morn5 T C 2: 36,055,037 F91S probably damaging Het
Ncan C T 8: 70,115,048 R138H possibly damaging Het
Olfr1328 A T 4: 118,934,662 M62K probably damaging Het
Olfr203 G T 16: 59,303,286 L44F probably damaging Het
Parg T C 14: 32,238,574 L82S probably damaging Het
Ppp2r2b A T 18: 42,645,809 H417Q probably damaging Het
Rb1cc1 T C 1: 6,264,583 L98P probably damaging Het
Ryr1 C A 7: 29,048,795 V3752L possibly damaging Het
Slc25a12 A G 2: 71,279,635 L489P probably damaging Het
Slc38a8 C T 8: 119,485,543 V354M probably benign Het
Slf2 A G 19: 44,942,020 E512G probably benign Het
Tarbp1 A G 8: 126,453,844 M597T probably damaging Het
Tmco5b A G 2: 113,296,920 M279V probably benign Het
Ttll9 G A 2: 153,002,951 G413D probably damaging Het
Tut1 A G 19: 8,962,387 D245G probably damaging Het
Usf3 T A 16: 44,221,226 V2023E probably damaging Het
Vps33a C T 5: 123,531,176 G554D probably damaging Het
Zfp27 C A 7: 29,896,255 R95M possibly damaging Het
Other mutations in Tgfb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02609:Tgfb3 APN 12 86077839 missense probably benign
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
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
Posted On2015-12-18