Incidental Mutation 'IGL00693:Tef'
ID 14422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tef
Ensembl Gene ENSMUSG00000022389
Gene Name thyrotroph embryonic factor
Synonyms 2310028D20Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # IGL00693
Quality Score
Status
Chromosome 15
Chromosomal Location 81686874-81711064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81699384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 131 (S131P)
Ref Sequence ENSEMBL: ENSMUSP00000023024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023024] [ENSMUST00000109553] [ENSMUST00000168200] [ENSMUST00000172208]
AlphaFold Q9JLC6
Predicted Effect probably benign
Transcript: ENSMUST00000023024
AA Change: S131P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023024
Gene: ENSMUSG00000022389
AA Change: S131P

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
low complexity region 64 75 N/A INTRINSIC
low complexity region 131 145 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
BRLZ 229 293 1.87e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109553
AA Change: S115P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105180
Gene: ENSMUSG00000022389
AA Change: S115P

DomainStartEndE-ValueType
low complexity region 31 47 N/A INTRINSIC
low complexity region 48 59 N/A INTRINSIC
low complexity region 115 129 N/A INTRINSIC
low complexity region 134 143 N/A INTRINSIC
BRLZ 213 277 1.87e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164673
Predicted Effect probably benign
Transcript: ENSMUST00000168200
AA Change: S62P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132026
Gene: ENSMUSG00000022389
AA Change: S62P

DomainStartEndE-ValueType
low complexity region 62 76 N/A INTRINSIC
low complexity region 81 90 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172208
AA Change: S62P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutant are subject to seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 G A 19: 20,677,410 (GRCm39) P404S probably damaging Het
Bltp1 A G 3: 37,106,696 (GRCm39) probably benign Het
Ccng1 A G 11: 40,644,885 (GRCm39) V4A probably benign Het
Col4a3 T C 1: 82,675,475 (GRCm39) Y1176H unknown Het
Dyrk3 T C 1: 131,064,074 (GRCm39) I3V possibly damaging Het
Gpsm3 A G 17: 34,810,247 (GRCm39) E149G probably damaging Het
Hsd3b6 A C 3: 98,713,594 (GRCm39) L235R probably damaging Het
Ipo11 A T 13: 107,033,768 (GRCm39) F238Y probably damaging Het
Kcnh7 C T 2: 62,564,598 (GRCm39) R887K probably benign Het
Lrrc8a T C 2: 30,145,327 (GRCm39) V47A probably benign Het
Lsm14b A G 2: 179,674,419 (GRCm39) N241D probably damaging Het
Mtss1 T A 15: 58,815,973 (GRCm39) D529V probably damaging Het
Nup58 A T 14: 60,475,969 (GRCm39) S283T probably benign Het
Odad2 C T 18: 7,211,504 (GRCm39) G790D probably damaging Het
Pno1 A G 11: 17,161,317 (GRCm39) L64P probably benign Het
Pramel28 G T 4: 143,692,392 (GRCm39) P203Q possibly damaging Het
Proc A G 18: 32,256,566 (GRCm39) V367A probably benign Het
Sez6l A T 5: 112,569,879 (GRCm39) I964N probably damaging Het
Speer2 A T 16: 69,657,406 (GRCm39) M79K probably benign Het
Ubr2 T C 17: 47,283,907 (GRCm39) T581A probably benign Het
Unc13c A T 9: 73,665,884 (GRCm39) D1045E probably benign Het
Vsig8 T C 1: 172,389,156 (GRCm39) V136A probably damaging Het
Wee1 A T 7: 109,734,060 (GRCm39) probably null Het
Other mutations in Tef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02303:Tef APN 15 81,705,496 (GRCm39) missense probably benign 0.01
IGL02399:Tef APN 15 81,699,301 (GRCm39) missense probably damaging 1.00
R4015:Tef UTSW 15 81,707,806 (GRCm39) missense probably damaging 0.99
R4786:Tef UTSW 15 81,699,453 (GRCm39) missense probably benign 0.45
R4787:Tef UTSW 15 81,707,758 (GRCm39) missense probably damaging 0.96
R8515:Tef UTSW 15 81,687,037 (GRCm39) missense possibly damaging 0.90
R8677:Tef UTSW 15 81,699,169 (GRCm39) missense probably damaging 0.96
R9000:Tef UTSW 15 81,695,773 (GRCm39) start codon destroyed probably null 0.33
Posted On 2012-12-06