Incidental Mutation 'R0976:Tgfb3'
ID 81184
Institutional Source Beutler Lab
Gene Symbol Tgfb3
Ensembl Gene ENSMUSG00000021253
Gene Name transforming growth factor, beta 3
Synonyms Tgfb-3
MMRRC Submission 039105-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0976 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 86103519-86125815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86116606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 144 (T144I)
Ref Sequence ENSEMBL: ENSMUSP00000003687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003687]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000003687
AA Change: T144I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: T144I

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
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.6%
  • 20x: 95.2%
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
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
Arap2 T A 5: 62,807,227 (GRCm39) I1147F probably damaging Het
Arl10 T C 13: 54,723,621 (GRCm39) probably benign Het
Axin1 A G 17: 26,407,060 (GRCm39) E551G probably damaging Het
Ccr6 T A 17: 8,475,254 (GRCm39) L153Q probably damaging Het
Cntnap2 C T 6: 47,248,164 (GRCm39) P1190L probably damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cux1 T A 5: 136,342,144 (GRCm39) D416V probably damaging Het
Cyp2c67 G T 19: 39,631,818 (GRCm39) F126L probably damaging Het
Cyp3a57 A G 5: 145,327,278 (GRCm39) I490V probably benign Het
Dsc1 T C 18: 20,228,098 (GRCm39) probably null Het
Fam83f T A 15: 80,576,285 (GRCm39) V312E probably damaging Het
Fsip2 A G 2: 82,828,375 (GRCm39) D6724G possibly damaging Het
Gabrr3 G T 16: 59,281,887 (GRCm39) C414F probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
H2bc18 T A 3: 96,177,402 (GRCm39) V112E probably benign Het
Herc1 A T 9: 66,347,160 (GRCm39) K2005M possibly damaging Het
Isyna1 C A 8: 71,048,936 (GRCm39) N338K probably damaging Het
Kalrn T C 16: 34,205,760 (GRCm39) D39G probably damaging Het
Mndal T A 1: 173,690,411 (GRCm39) R306S possibly damaging Het
Nek2 A G 1: 191,559,349 (GRCm39) R285G probably benign Het
Nrg2 A G 18: 36,154,144 (GRCm39) I591T probably benign Het
Or8u8 A G 2: 86,012,152 (GRCm39) L101S probably damaging Het
Pcdh10 T C 3: 45,335,236 (GRCm39) S517P probably damaging Het
Pdcd2l G T 7: 33,895,771 (GRCm39) D67E probably benign Het
Pex1 C A 5: 3,683,943 (GRCm39) D1146E probably benign Het
Pid1 A T 1: 84,136,946 (GRCm39) Y62N probably benign Het
Ppp4r1 T C 17: 66,148,013 (GRCm39) *935R probably null Het
Stag1 T C 9: 100,658,877 (GRCm39) F155L probably damaging Het
Stag1 G A 9: 100,812,069 (GRCm39) probably null Het
Taok2 C T 7: 126,474,323 (GRCm39) R302Q possibly damaging Het
Tbc1d8 A G 1: 39,445,882 (GRCm39) V103A probably damaging Het
Terf2ip T A 8: 112,738,349 (GRCm39) I79N probably damaging Het
Top1 A G 2: 160,559,343 (GRCm39) N622S possibly damaging Het
Trappc9 T A 15: 72,871,823 (GRCm39) Q489L probably damaging Het
Vmn2r69 T C 7: 85,056,108 (GRCm39) T677A probably damaging Het
Wdr35 T C 12: 9,036,104 (GRCm39) F292L probably benign Het
Other mutations in Tgfb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02609:Tgfb3 APN 12 86,124,613 (GRCm39) missense probably benign
IGL02899:Tgfb3 APN 12 86,116,550 (GRCm39) missense probably damaging 1.00
IGL03276:Tgfb3 APN 12 86,104,642 (GRCm39) missense probably damaging 0.99
R0050:Tgfb3 UTSW 12 86,116,658 (GRCm39) missense possibly damaging 0.85
R0053:Tgfb3 UTSW 12 86,124,603 (GRCm39) missense probably damaging 1.00
R0053:Tgfb3 UTSW 12 86,124,603 (GRCm39) missense probably damaging 1.00
R1460:Tgfb3 UTSW 12 86,105,841 (GRCm39) intron probably benign
R1474:Tgfb3 UTSW 12 86,116,120 (GRCm39) critical splice donor site probably null
R1686:Tgfb3 UTSW 12 86,116,517 (GRCm39) splice site probably benign
R1826:Tgfb3 UTSW 12 86,108,818 (GRCm39) missense probably benign 0.04
R2105:Tgfb3 UTSW 12 86,116,543 (GRCm39) missense possibly damaging 0.91
R2294:Tgfb3 UTSW 12 86,116,684 (GRCm39) missense probably benign 0.17
R3159:Tgfb3 UTSW 12 86,105,760 (GRCm39) missense probably damaging 1.00
R4590:Tgfb3 UTSW 12 86,124,589 (GRCm39) missense possibly damaging 0.59
R4866:Tgfb3 UTSW 12 86,124,588 (GRCm39) missense possibly damaging 0.95
R4868:Tgfb3 UTSW 12 86,108,955 (GRCm39) missense probably benign 0.02
R5104:Tgfb3 UTSW 12 86,105,756 (GRCm39) missense possibly damaging 0.94
R6030:Tgfb3 UTSW 12 86,110,624 (GRCm39) missense probably benign 0.03
R6030:Tgfb3 UTSW 12 86,110,624 (GRCm39) missense probably benign 0.03
R6213:Tgfb3 UTSW 12 86,104,621 (GRCm39) missense probably damaging 1.00
R6257:Tgfb3 UTSW 12 86,124,615 (GRCm39) missense possibly damaging 0.94
R6331:Tgfb3 UTSW 12 86,110,638 (GRCm39) missense probably benign 0.03
R6762:Tgfb3 UTSW 12 86,116,237 (GRCm39) missense probably benign 0.00
R7473:Tgfb3 UTSW 12 86,108,923 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GGGAGACCAAAGGCTTCTGAACAC -3'
(R):5'- GGCTGCTGGTCCATACCATTTCTG -3'

Sequencing Primer
(F):5'- GGTAATGCAGCCCTCTTAATGAC -3'
(R):5'- CCATACCATTTCTGGGGGGTC -3'
Posted On 2013-11-07