Incidental Mutation 'IGL03179:Tgfa'
ID 412147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgfa
Ensembl Gene ENSMUSG00000029999
Gene Name transforming growth factor alpha
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03179
Quality Score
Status
Chromosome 6
Chromosomal Location 86172205-86252701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86248403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 135 (L135P)
Ref Sequence ENSEMBL: ENSMUSP00000032066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032066] [ENSMUST00000192058]
AlphaFold P48030
Predicted Effect probably benign
Transcript: ENSMUST00000032066
AA Change: L135P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000032066
Gene: ENSMUSG00000029999
AA Change: L135P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF 45 82 1.01e-1 SMART
transmembrane domain 98 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192058
SMART Domains Protein: ENSMUSP00000141395
Gene: ENSMUSG00000029999

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
PDB:4TGF|A 39 71 4e-17 PDB
SCOP:d1ioxa_ 42 71 8e-11 SMART
Blast:EGF 45 71 1e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194449
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the epidermal growth factor (EGF) family of proteins that regulate cellular proliferation. The encoded protein undergoes proteolytic processing to generate a soluble glycoprotein that is secreted by the cell. The secreted protein binds to the EGF receptors to initiate signaling events resulting in cellular proliferation, mucous production or inhibition of gastric acid secretion. The transgenic expression of the encoded protein in mice induces the development of cancers in various tissues such as liver, pancreas, skin and mammary glands. Mice lacking the encoded protein exhibit a wavy coat and curly whiskers phenotype as well as abnormalities in the eye. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutants have curly vibrissae, wavy hair with misaligned hair follicles, reduced body weight, and eye defects including open eyelids at birth, corneal scarring and microphthalmia. Some heterozygotes show mild forms of the eye abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,745,180 (GRCm39) H1736L probably benign Het
App A G 16: 84,879,735 (GRCm39) C133R probably damaging Het
Atxn7l2 G T 3: 108,110,963 (GRCm39) C524* probably null Het
Cckbr T C 7: 105,084,130 (GRCm39) V288A probably benign Het
Ccr1l1 T C 9: 123,777,787 (GRCm39) Y220C probably damaging Het
Cdc42se2 A T 11: 54,614,417 (GRCm39) F47I possibly damaging Het
Cep290 T A 10: 100,403,950 (GRCm39) I2317N possibly damaging Het
Chrnd T C 1: 87,123,502 (GRCm39) S347P probably damaging Het
Clcn5 T A X: 7,029,565 (GRCm39) probably null Het
D6Wsu163e A G 6: 126,927,074 (GRCm39) D187G probably damaging Het
Dnajc13 T A 9: 104,044,634 (GRCm39) I1852F probably benign Het
Ecpas C T 4: 58,832,777 (GRCm39) G861D probably damaging Het
Fcnb A G 2: 27,966,646 (GRCm39) S296P possibly damaging Het
Fut2 C T 7: 45,300,073 (GRCm39) R233K probably benign Het
Gm21985 G A 2: 112,188,900 (GRCm39) V1078I possibly damaging Het
Gpc3 A T X: 51,486,090 (GRCm39) probably benign Het
Krt10 A G 11: 99,280,044 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,781 (GRCm39) E370G probably damaging Het
Myo5c A T 9: 75,163,148 (GRCm39) I326F possibly damaging Het
Neb A T 2: 52,066,653 (GRCm39) L5906Q probably damaging Het
Nrdc A T 4: 108,903,888 (GRCm39) probably benign Het
Nrip2 A G 6: 128,381,938 (GRCm39) N17S possibly damaging Het
Or51f2 T C 7: 102,527,279 (GRCm39) probably benign Het
Or6s1 T C 14: 51,308,467 (GRCm39) I128V probably benign Het
P2rx7 A G 5: 122,811,763 (GRCm39) Y358C possibly damaging Het
Pex10 A C 4: 155,152,354 (GRCm39) I61L probably benign Het
Phax T C 18: 56,713,364 (GRCm39) F248L probably damaging Het
Phtf2 A T 5: 20,987,397 (GRCm39) D366E probably damaging Het
Pnpo A G 11: 96,830,085 (GRCm39) Y205H possibly damaging Het
Pparg T A 6: 115,416,833 (GRCm39) W9R probably damaging Het
Ppp4r3c2 G A X: 88,796,434 (GRCm39) G89S possibly damaging Het
Prex1 C T 2: 166,427,114 (GRCm39) S867N probably benign Het
Pyroxd2 T A 19: 42,736,001 (GRCm39) N59I possibly damaging Het
Rnf135 T A 11: 80,084,837 (GRCm39) S203R possibly damaging Het
Sall1 T A 8: 89,758,289 (GRCm39) N605I probably benign Het
Scara3 C T 14: 66,168,603 (GRCm39) R338H probably damaging Het
Slc25a14 T C X: 47,726,317 (GRCm39) S152P probably benign Het
Strip1 A T 3: 107,527,571 (GRCm39) F436I probably damaging Het
Tgif1 T C 17: 71,151,942 (GRCm39) Q170R possibly damaging Het
Tmc2 G A 2: 130,071,107 (GRCm39) E279K probably damaging Het
Tnks G T 8: 35,315,824 (GRCm39) N987K probably benign Het
Traf3ip3 T C 1: 192,876,676 (GRCm39) E209G probably damaging Het
Vmn2r73 T A 7: 85,519,468 (GRCm39) I497L probably benign Het
Wrn C A 8: 33,800,734 (GRCm39) probably null Het
Zcchc24 T C 14: 25,720,086 (GRCm39) I193V possibly damaging Het
Other mutations in Tgfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0745:Tgfa UTSW 6 86,248,417 (GRCm39) missense probably damaging 0.99
R1109:Tgfa UTSW 6 86,247,072 (GRCm39) intron probably benign
R5054:Tgfa UTSW 6 86,247,064 (GRCm39) splice site probably null
R7602:Tgfa UTSW 6 86,246,944 (GRCm39) missense probably damaging 1.00
R8916:Tgfa UTSW 6 86,248,436 (GRCm39) missense probably damaging 1.00
R9614:Tgfa UTSW 6 86,248,397 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02