Incidental Mutation 'R8515:Tef'
ID 656110
Institutional Source Beutler Lab
Gene Symbol Tef
Ensembl Gene ENSMUSG00000022389
Gene Name thyrotroph embryonic factor
Synonyms 2310028D20Rik
MMRRC Submission 067847-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.644) question?
Stock # R8515 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 81686874-81711064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81687037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 18 (V18D)
Ref Sequence ENSEMBL: ENSMUSP00000105180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109553]
AlphaFold Q9JLC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000109553
AA Change: V18D

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105180
Gene: ENSMUSG00000022389
AA Change: V18D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A G 6: 86,902,112 (GRCm39) M94V possibly damaging Het
Acss3 A G 10: 106,784,524 (GRCm39) I566T possibly damaging Het
Adcy3 T C 12: 4,262,187 (GRCm39) V1080A probably damaging Het
Aldh1b1 C T 4: 45,803,818 (GRCm39) T452I probably damaging Het
Bptf A T 11: 106,946,064 (GRCm39) S2392T possibly damaging Het
Ccnb2 A G 9: 70,320,382 (GRCm39) probably null Het
Clec4a4 T A 6: 122,980,982 (GRCm39) Y72N probably benign Het
Clk4 G A 11: 51,166,088 (GRCm39) R198Q probably damaging Het
Coro2a ACCAGAAGAGCCATCCAG ACCAG 4: 46,544,117 (GRCm39) probably null Het
Ctbs T A 3: 146,164,568 (GRCm39) Y240* probably null Het
Cyp2d22 T C 15: 82,258,113 (GRCm39) D169G probably benign Het
Dnah11 C T 12: 117,939,533 (GRCm39) V3196I probably damaging Het
Fam110b T C 4: 5,799,380 (GRCm39) V266A probably benign Het
Fbxo40 A G 16: 36,791,015 (GRCm39) S32P probably damaging Het
Gm4787 T A 12: 81,424,043 (GRCm39) H705L probably benign Het
Grik1 A T 16: 87,720,170 (GRCm39) Y702* probably null Het
Hao2 A T 3: 98,790,963 (GRCm39) N70K probably benign Het
Heatr4 A G 12: 84,001,478 (GRCm39) I888T probably damaging Het
Herc4 T A 10: 63,151,565 (GRCm39) N935K probably benign Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Kif3b C T 2: 153,158,427 (GRCm39) T76M probably damaging Het
Kmo A T 1: 175,474,718 (GRCm39) H134L probably damaging Het
Lama3 C A 18: 12,544,688 (GRCm39) Q344K probably null Het
Man2a2 A T 7: 80,018,038 (GRCm39) F211I possibly damaging Het
Mmp19 T C 10: 128,631,471 (GRCm39) I189T probably benign Het
Muc4 G A 16: 32,575,629 (GRCm39) G1710S unknown Het
Myo15b G A 11: 115,749,610 (GRCm39) G127S Het
Naca T C 10: 127,880,112 (GRCm39) S1715P possibly damaging Het
Ndufs4 T C 13: 114,425,339 (GRCm39) N163S probably damaging Het
Nim1k G A 13: 120,173,986 (GRCm39) R303* probably null Het
Nkx6-3 A T 8: 23,643,707 (GRCm39) Y36F possibly damaging Het
Osbpl10 C A 9: 115,005,136 (GRCm39) Q188K probably benign Het
Pak6 G T 2: 118,520,478 (GRCm39) R156S probably benign Het
Pcf11 T A 7: 92,307,998 (GRCm39) K723N possibly damaging Het
Pcnx1 A G 12: 82,009,490 (GRCm39) Y546C possibly damaging Het
Pik3r6 A G 11: 68,430,783 (GRCm39) Y528C probably damaging Het
Ppp3cb T A 14: 20,581,844 (GRCm39) N57I probably benign Het
Preb A G 5: 31,116,722 (GRCm39) L57P probably damaging Het
Prkdc A G 16: 15,482,232 (GRCm39) D425G probably damaging Het
Rab35 G A 5: 115,781,467 (GRCm39) V90I probably damaging Het
Rab3gap2 G C 1: 184,995,017 (GRCm39) S852T probably benign Het
Rcn1 C T 2: 105,219,464 (GRCm39) R243Q probably null Het
Rom1 A G 19: 8,906,465 (GRCm39) S25P probably damaging Het
Shank3 C A 15: 89,387,775 (GRCm39) Y286* probably null Het
Sis T A 3: 72,836,742 (GRCm39) I837L probably benign Het
Ski T C 4: 155,245,083 (GRCm39) S388G possibly damaging Het
Skint1 T C 4: 111,867,921 (GRCm39) F16S probably benign Het
Slc22a21 T G 11: 53,846,904 (GRCm39) D323A possibly damaging Het
Slc40a1 G A 1: 45,951,467 (GRCm39) T230I probably damaging Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
Spata31h1 T A 10: 82,124,436 (GRCm39) D2858V probably benign Het
Spdl1 G A 11: 34,704,252 (GRCm39) T527I possibly damaging Het
Sptb A T 12: 76,658,815 (GRCm39) L1240Q probably benign Het
Uckl1 T C 2: 181,216,280 (GRCm39) D155G probably damaging Het
Vmn1r215 A G 13: 23,260,037 (GRCm39) I26V probably benign Het
Wac A G 18: 7,871,606 (GRCm39) M46V probably benign Het
Wbp1 C T 6: 83,096,866 (GRCm39) G146D probably damaging Het
Zfand2a A C 5: 139,459,546 (GRCm39) S147A probably benign Het
Zfhx4 A T 3: 5,464,534 (GRCm39) Y1589F probably benign Het
Zfp345 G C 2: 150,314,348 (GRCm39) D396E probably benign Het
Other mutations in Tef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Tef APN 15 81,699,384 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGATAACAGGCCGGGTTCTC -3'
(R):5'- ACATACATCCTGGGGTCCTTC -3'

Sequencing Primer
(F):5'- GCCGGGTTCTCTGTCAGAG -3'
(R):5'- GGGGTCCTTCTCTGCATTGC -3'
Posted On 2020-10-20