Incidental Mutation 'IGL00693:Tef'
ID14422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tef
Ensembl Gene ENSMUSG00000022389
Gene Namethyrotroph embryonic factor
Synonyms2310028D20Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.527) question?
Stock #IGL00693
Quality Score
Status
Chromosome15
Chromosomal Location81802421-81826863 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81815183 bp
ZygosityHeterozygous
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]
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
4932438A13Rik A G 3: 37,052,547 probably benign Het
Aldh1a7 G A 19: 20,700,046 P404S probably damaging Het
Armc4 C T 18: 7,211,504 G790D probably damaging Het
Ccng1 A G 11: 40,754,058 V4A probably benign Het
Col4a3 T C 1: 82,697,754 Y1176H unknown Het
Dyrk3 T C 1: 131,136,337 I3V possibly damaging Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Gpsm3 A G 17: 34,591,273 E149G probably damaging Het
Hsd3b6 A C 3: 98,806,278 L235R probably damaging Het
Ipo11 A T 13: 106,897,260 F238Y probably damaging Het
Kcnh7 C T 2: 62,734,254 R887K probably benign Het
Lrrc8a T C 2: 30,255,315 V47A probably benign Het
Lsm14b A G 2: 180,032,626 N241D probably damaging Het
Mtss1 T A 15: 58,944,124 D529V probably damaging Het
Nupl1 A T 14: 60,238,520 S283T probably benign Het
Pno1 A G 11: 17,211,317 L64P probably benign Het
Proc A G 18: 32,123,513 V367A probably benign Het
Sez6l A T 5: 112,422,013 I964N probably damaging Het
Speer2 A T 16: 69,860,518 M79K probably benign Het
Ubr2 T C 17: 46,972,981 T581A probably benign Het
Unc13c A T 9: 73,758,602 D1045E probably benign Het
Vsig8 T C 1: 172,561,589 V136A probably damaging Het
Wee1 A T 7: 110,134,853 probably null Het
Other mutations in Tef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02303:Tef APN 15 81821295 missense probably benign 0.01
IGL02399:Tef APN 15 81815100 missense probably damaging 1.00
R4015:Tef UTSW 15 81823605 missense probably damaging 0.99
R4786:Tef UTSW 15 81815252 missense probably benign 0.45
R4787:Tef UTSW 15 81823557 missense probably damaging 0.96
Posted On2012-12-06