|Institutional Source||Beutler Lab|
|Gene Name||transforming growth factor alpha|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0745 (G1)|
|Chromosomal Location||86195223-86275719 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 86271435 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 140 (E140K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032066 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032066] [ENSMUST00000192058]|
|Predicted Effect||probably damaging
AA Change: E140K
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: E140K
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0784|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
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||
|Other mutations in Tgfa||
(F):5'- CAGCTATGTGACTGACTTGTCCCC -3'
(R):5'- GCGATATTCTGTCAGGAGGACTGC -3'
(F):5'- GGATCTGTCCAGGTCACCAATG -3'
(R):5'- CAGTCCAACCAGACTGGTG -3'