Incidental Mutation 'R9614:Tgfa'
ID 724436
Institutional Source Beutler Lab
Gene Symbol Tgfa
Ensembl Gene ENSMUSG00000029999
Gene Name transforming growth factor alpha
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9614 (G1)
Quality Score 192.009
Status Not validated
Chromosome 6
Chromosomal Location 86172205-86252701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86248397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 133 (R133H)
Ref Sequence ENSEMBL: ENSMUSP00000032066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032066] [ENSMUST00000192058]
AlphaFold P48030
Predicted Effect probably damaging
Transcript: ENSMUST00000032066
AA Change: R133H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032066
Gene: ENSMUSG00000029999
AA Change: R133H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,767,364 (GRCm39) T317I possibly damaging Het
Adamts7 T A 9: 90,077,251 (GRCm39) V1306E probably damaging Het
Adcy9 C T 16: 4,106,547 (GRCm39) D1093N probably damaging Het
Adgra3 A G 5: 50,164,250 (GRCm39) V243A probably damaging Het
Aqp4 C T 18: 15,526,687 (GRCm39) A265T probably benign Het
Atad2 A T 15: 57,970,119 (GRCm39) probably null Het
Atp13a4 A G 16: 29,260,398 (GRCm39) V560A Het
Best2 A C 8: 85,740,051 (GRCm39) C38G Het
Bicra A T 7: 15,705,880 (GRCm39) S1520R probably damaging Het
C1s2 A G 6: 124,602,588 (GRCm39) L541P probably damaging Het
Calcoco2 T A 11: 95,991,185 (GRCm39) H184L probably benign Het
Cav1 A T 6: 17,339,403 (GRCm39) I163F probably benign Het
Cep57l1 T C 10: 41,597,563 (GRCm39) H356R probably damaging Het
Clu A C 14: 66,208,851 (GRCm39) H32P unknown Het
Col5a1 T A 2: 27,879,186 (GRCm39) D840E unknown Het
Cramp1 C A 17: 25,201,783 (GRCm39) K566N probably damaging Het
Csmd1 C A 8: 16,208,239 (GRCm39) V1239L probably benign Het
Cubn T A 2: 13,482,945 (GRCm39) Q267L probably benign Het
Cul7 C T 17: 46,975,212 (GRCm39) R1689W probably damaging Het
Dao A T 5: 114,152,060 (GRCm39) D126V probably benign Het
Eif3l T C 15: 78,978,423 (GRCm39) M560T probably benign Het
F830016B08Rik T A 18: 60,433,379 (GRCm39) I154N probably damaging Het
Fam184a T C 10: 53,517,144 (GRCm39) E980G probably damaging Het
Fgf21 T C 7: 45,264,703 (GRCm39) T10A probably benign Het
Fhad1 A C 4: 141,678,882 (GRCm39) V598G possibly damaging Het
Foxc1 A T 13: 31,991,863 (GRCm39) I225F possibly damaging Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Galnt9 G A 5: 110,744,047 (GRCm39) G294S probably damaging Het
Gp5 A C 16: 30,128,393 (GRCm39) F94V probably damaging Het
Idh2 A T 7: 79,747,925 (GRCm39) Y258* probably null Het
Immp2l T C 12: 41,160,933 (GRCm39) V77A probably damaging Het
Isl1 T C 13: 116,441,924 (GRCm39) E103G Het
Itgad A T 7: 127,803,022 (GRCm39) T1059S probably damaging Het
Kcnj6 G A 16: 94,633,307 (GRCm39) T268I probably damaging Het
Lgals3bp A G 11: 118,284,037 (GRCm39) V514A probably benign Het
Mcfd2 A T 17: 87,565,421 (GRCm39) H27Q probably benign Het
Mettl13 A G 1: 162,364,769 (GRCm39) W537R probably damaging Het
Mybl2 G T 2: 162,906,225 (GRCm39) G102V probably damaging Het
Nars2 C T 7: 96,689,125 (GRCm39) T349M probably damaging Het
Nat8f3 A T 6: 85,738,708 (GRCm39) V18E Het
Npepps T C 11: 97,149,177 (GRCm39) E115G probably benign Het
Odad3 T C 9: 21,904,310 (GRCm39) D322G probably benign Het
Oog2 T A 4: 143,922,707 (GRCm39) V324E probably damaging Het
Or2y12 T A 11: 49,426,071 (GRCm39) W20R probably damaging Het
Or7g12 A T 9: 18,899,526 (GRCm39) M81L possibly damaging Het
Or8d2b G A 9: 38,789,281 (GRCm39) V270M probably damaging Het
Or8j3b A G 2: 86,205,012 (GRCm39) V248A probably damaging Het
Pdzd2 A G 15: 12,375,486 (GRCm39) S1550P probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pms2 T C 5: 143,854,420 (GRCm39) V243A probably benign Het
Ptpn9 A G 9: 56,944,005 (GRCm39) D293G probably benign Het
Ptprb A G 10: 116,203,441 (GRCm39) K1784R probably damaging Het
Rab23 CAA CA 1: 33,764,077 (GRCm39) probably null Het
Raf1 T C 6: 115,596,597 (GRCm39) N576D probably benign Het
Rasa4 C A 5: 136,140,343 (GRCm39) H782Q possibly damaging Het
Rims1 C A 1: 22,491,969 (GRCm39) E168* probably null Het
Rpgrip1l A T 8: 91,987,434 (GRCm39) N874K possibly damaging Het
Rxfp4 C T 3: 88,559,969 (GRCm39) V161I possibly damaging Het
Scel G A 14: 103,843,032 (GRCm39) G558D probably damaging Het
Sipa1l2 T C 8: 126,196,565 (GRCm39) K723R probably null Het
Slc12a1 A T 2: 125,002,445 (GRCm39) R142W probably damaging Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Sox4 C T 13: 29,136,079 (GRCm39) G309D probably damaging Het
Terb1 T C 8: 105,223,476 (GRCm39) T111A probably benign Het
Ticrr T C 7: 79,345,754 (GRCm39) S1836P probably damaging Het
Tlk2 A G 11: 105,138,328 (GRCm39) D292G probably benign Het
Tmc7 A G 7: 118,141,160 (GRCm39) I657T probably benign Het
Tmprss11c G A 5: 86,383,379 (GRCm39) T349I probably benign Het
Trhr A G 15: 44,060,981 (GRCm39) N167S probably benign Het
Tsc22d1 T G 14: 76,653,983 (GRCm39) I154S probably damaging Het
Vmn1r2 T C 4: 3,172,587 (GRCm39) Y169H probably damaging Het
Vmn1r77 G T 7: 11,775,766 (GRCm39) V181L probably benign Het
Other mutations in Tgfa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03179:Tgfa APN 6 86,248,403 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- TCAGCTAGTCAGGGGATCTG -3'
(R):5'- ACAACTGTTTTGTCTCAGCACC -3'

Sequencing Primer
(F):5'- TTGTAACAATAGCGCTGACAGC -3'
(R):5'- CTCTGTGCCAACTCAGAAAATGGTG -3'
Posted On 2022-09-12