Incidental Mutation 'IGL02609:Tgfb3'
ID300412
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 #IGL02609
Quality Score
Status
Chromosome12
Chromosomal Location86056745-86079041 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86077839 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 32 (F32L)
Ref Sequence ENSEMBL: ENSMUSP00000003687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003687] [ENSMUST00000054565] [ENSMUST00000222821] [ENSMUST00000222905]
Predicted Effect probably benign
Transcript: ENSMUST00000003687
AA Change: F32L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: F32L

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 probably benign
Transcript: ENSMUST00000054565
SMART Domains Protein: ENSMUSP00000061891
Gene: ENSMUSG00000007867

DomainStartEndE-ValueType
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in Tgfb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2015-04-16