Incidental Mutation 'IGL00955:Gtf2e1'
ID29180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2e1
Ensembl Gene ENSMUSG00000022828
Gene Namegeneral transcription factor II E, polypeptide 1 (alpha subunit)
SynonymsTFIIE-A, FE, 2610024P03Rik, 56kDa
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL00955
Quality Score
Status
Chromosome16
Chromosomal Location37509790-37539789 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37535920 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 83 (D83E)
Ref Sequence ENSEMBL: ENSMUSP00000023525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023524] [ENSMUST00000023525] [ENSMUST00000130028]
Predicted Effect probably benign
Transcript: ENSMUST00000023524
SMART Domains Protein: ENSMUSP00000023524
Gene: ENSMUSG00000022827

DomainStartEndE-ValueType
Pfam:MMR_HSR1 8 128 8.5e-8 PFAM
Pfam:Roc 8 132 1.2e-16 PFAM
Pfam:Ras 8 178 7.9e-15 PFAM
Pfam:Gtr1_RagA 8 181 2.1e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000023525
AA Change: D83E

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023525
Gene: ENSMUSG00000022828
AA Change: D83E

DomainStartEndE-ValueType
TFIIE 28 175 2.69e-74 SMART
low complexity region 221 233 N/A INTRINSIC
low complexity region 332 351 N/A INTRINSIC
Pfam:TFIIE-A_C 354 440 9.9e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128036
Predicted Effect probably benign
Transcript: ENSMUST00000130028
SMART Domains Protein: ENSMUSP00000122441
Gene: ENSMUSG00000022827

DomainStartEndE-ValueType
Pfam:Arf 1 126 3.3e-6 PFAM
Pfam:Gtr1_RagA 8 118 5.5e-8 PFAM
Pfam:MMR_HSR1 8 127 9.8e-8 PFAM
Pfam:Ras 8 128 9.5e-15 PFAM
Pfam:Miro 8 129 2.3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130350
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Cherp C T 8: 72,470,194 E140K probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cxcr1 A T 1: 74,192,220 F214L probably benign Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kcnk2 A T 1: 189,243,014 I264N probably damaging Het
Kctd4 A G 14: 75,963,228 D213G probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mrpl24 T A 3: 87,922,219 L91* probably null Het
Mup11 C T 4: 60,659,550 R175H probably benign Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Olfr598 C A 7: 103,329,321 H278Q probably damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Tbc1d8b T C X: 139,725,880 probably null Het
Other mutations in Gtf2e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Gtf2e1 APN 16 37515730 missense probably benign
IGL03372:Gtf2e1 APN 16 37535715 unclassified probably benign
R2202:Gtf2e1 UTSW 16 37511542 missense possibly damaging 0.49
R2203:Gtf2e1 UTSW 16 37511542 missense possibly damaging 0.49
R5262:Gtf2e1 UTSW 16 37535931 missense probably damaging 0.96
R6457:Gtf2e1 UTSW 16 37536336 intron probably null
R6522:Gtf2e1 UTSW 16 37511454 missense possibly damaging 0.47
R7165:Gtf2e1 UTSW 16 37535866 missense probably damaging 1.00
R7297:Gtf2e1 UTSW 16 37536065 missense probably damaging 1.00
Posted On2013-04-17