Incidental Mutation 'IGL02303:Tef'
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ID287469
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: 0.693) question?
Stock #IGL02303
Quality Score
Status
Chromosome15
Chromosomal Location81802421-81826863 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81821295 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 173 (V173A)
Ref Sequence ENSEMBL: ENSMUSP00000105180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023024] [ENSMUST00000109553] [ENSMUST00000168200]
Predicted Effect probably benign
Transcript: ENSMUST00000023024
AA Change: V189A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023024
Gene: ENSMUSG00000022389
AA Change: V189A

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: V173A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000105180
Gene: ENSMUSG00000022389
AA Change: V173A

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 noncoding transcript
Transcript: ENSMUST00000167138
Predicted Effect probably benign
Transcript: ENSMUST00000168200
SMART Domains Protein: ENSMUSP00000132026
Gene: ENSMUSG00000022389

DomainStartEndE-ValueType
low complexity region 62 76 N/A INTRINSIC
low complexity region 81 90 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168632
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,154,550 F319S probably damaging Het
Ap3b1 A G 13: 94,528,319 D922G unknown Het
Bhlhe41 A T 6: 145,864,156 H107Q probably damaging Het
Csmd2 C A 4: 128,369,008 H662Q probably benign Het
Dnah8 T C 17: 30,713,047 V1463A probably benign Het
Ebf3 A T 7: 137,309,365 V140E probably benign Het
Havcr2 T A 11: 46,479,281 probably benign Het
Hexb G A 13: 97,176,893 A485V probably damaging Het
Igkv5-37 T A 6: 69,963,489 Q57L probably damaging Het
Ipo5 T A 14: 120,917,383 S40T probably benign Het
Kcnj8 A G 6: 142,570,111 M90T probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Kmt2c A C 5: 25,310,157 L2896R probably damaging Het
Ldlrap1 A T 4: 134,757,395 I96N probably damaging Het
Leo1 A G 9: 75,445,999 probably benign Het
Mbnl2 T C 14: 120,404,647 M341T probably benign Het
Nfatc2 G A 2: 168,506,901 R669* probably null Het
Nhlrc2 T A 19: 56,574,848 V293E probably damaging Het
Olfr23 T C 11: 73,940,450 F68S possibly damaging Het
Olfr521 A G 7: 99,767,972 D270G possibly damaging Het
Olfr610 A T 7: 103,506,088 M286K probably benign Het
Olfr632 A G 7: 103,937,563 Q61R possibly damaging Het
Otoa T A 7: 121,132,924 probably null Het
Pcnt T C 10: 76,442,559 probably benign Het
Recql4 G T 15: 76,708,571 Q307K possibly damaging Het
Sp140 T A 1: 85,643,009 Y453* probably null Het
Sspo G A 6: 48,484,705 V3600I possibly damaging Het
Sybu T C 15: 44,673,223 E441G probably benign Het
Syne3 A T 12: 104,963,294 H222Q probably damaging Het
Tlcd1 A G 11: 78,180,334 probably null Het
Tmod4 C A 3: 95,125,642 Q30K probably benign Het
Tpgs1 T C 10: 79,675,488 Y155H probably damaging Het
Trib3 G A 2: 152,343,150 P60S probably benign Het
Ttn T A 2: 76,730,206 T20957S probably damaging Het
Vars T C 17: 35,015,484 probably benign Het
Vps13c T C 9: 67,945,481 probably benign Het
Zc3h4 T C 7: 16,434,077 S704P unknown Het
Zfp644 G A 5: 106,637,314 R456W probably damaging Het
Other mutations in Tef
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Tef APN 15 81815183 missense probably benign 0.00
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 On2015-04-16