Incidental Mutation 'IGL00227:Gtf2e2'
ID 2316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2e2
Ensembl Gene ENSMUSG00000031585
Gene Name general transcription factor II E, polypeptide 2 (beta subunit)
Synonyms C330006J08Rik, 34kDa
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00227
Quality Score
Status
Chromosome 8
Chromosomal Location 34221942-34267201 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 34266473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167264] [ENSMUST00000170705] [ENSMUST00000171010]
AlphaFold Q9D902
Predicted Effect probably benign
Transcript: ENSMUST00000167264
SMART Domains Protein: ENSMUSP00000129834
Gene: ENSMUSG00000031585

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Pfam:TFIIE_beta 75 146 2.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170705
SMART Domains Protein: ENSMUSP00000126284
Gene: ENSMUSG00000031585

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Pfam:TFIIE_beta 73 146 1.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171010
SMART Domains Protein: ENSMUSP00000132287
Gene: ENSMUSG00000031585

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Pfam:TFIIE_beta 73 146 1.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186200
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C A 17: 84,995,957 (GRCm39) probably null Het
Alms1 A G 6: 85,654,946 (GRCm39) E2695G probably damaging Het
B3galnt2 A G 13: 14,162,016 (GRCm39) N246D probably benign Het
Ces1h A T 8: 94,079,098 (GRCm39) M495K unknown Het
Chga A G 12: 102,529,058 (GRCm39) E345G probably damaging Het
Chrnb3 T C 8: 27,875,129 (GRCm39) F43L probably benign Het
Ctu1 C A 7: 43,324,928 (GRCm39) F122L possibly damaging Het
Cwf19l2 C A 9: 3,409,990 (GRCm39) Q40K probably benign Het
Dlg2 T C 7: 91,614,853 (GRCm39) I264T probably damaging Het
Dnah1 C T 14: 31,008,853 (GRCm39) V1974M probably damaging Het
Foxf2 C A 13: 31,810,172 (GRCm39) P37Q unknown Het
Hectd3 C A 4: 116,857,785 (GRCm39) probably benign Het
Hectd3 T C 4: 116,857,786 (GRCm39) probably benign Het
Hectd3 T C 4: 116,857,784 (GRCm39) probably benign Het
Ift122 A T 6: 115,894,018 (GRCm39) H901L probably benign Het
Itih1 C T 14: 30,664,846 (GRCm39) probably null Het
Krt84 C A 15: 101,436,208 (GRCm39) M460I probably benign Het
Moxd1 C T 10: 24,158,491 (GRCm39) H382Y probably damaging Het
Npy6r A T 18: 44,409,511 (GRCm39) T311S probably damaging Het
Or1p1 C T 11: 74,179,952 (GRCm39) T160I probably damaging Het
Or52n3 C T 7: 104,530,724 (GRCm39) T270I probably benign Het
Pbk T C 14: 66,051,340 (GRCm39) I126T probably damaging Het
Pde1b C T 15: 103,435,107 (GRCm39) S400F probably damaging Het
Plxna2 T A 1: 194,326,965 (GRCm39) C300S probably damaging Het
Pnpla6 C T 8: 3,573,808 (GRCm39) R419W probably damaging Het
Ppp4r3a A G 12: 101,016,053 (GRCm39) L33P probably damaging Het
Ralb T A 1: 119,403,770 (GRCm39) D119V probably benign Het
Relb A C 7: 19,356,849 (GRCm39) probably null Het
Rims1 T A 1: 22,507,323 (GRCm39) D609V probably damaging Het
Scnn1a A G 6: 125,315,342 (GRCm39) T377A probably benign Het
Slc13a2 T C 11: 78,291,374 (GRCm39) T367A probably damaging Het
Sort1 T C 3: 108,263,623 (GRCm39) L807P probably damaging Het
Sptbn1 C A 11: 30,060,818 (GRCm39) E2051* probably null Het
St6galnac1 T C 11: 116,658,532 (GRCm39) I311V probably damaging Het
Other mutations in Gtf2e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02154:Gtf2e2 APN 8 34,245,989 (GRCm39) critical splice donor site probably null
IGL03213:Gtf2e2 APN 8 34,242,525 (GRCm39) missense probably damaging 1.00
R0383:Gtf2e2 UTSW 8 34,245,973 (GRCm39) missense probably damaging 1.00
R4012:Gtf2e2 UTSW 8 34,245,993 (GRCm39) splice site probably benign
R4429:Gtf2e2 UTSW 8 34,242,521 (GRCm39) nonsense probably null
R5987:Gtf2e2 UTSW 8 34,266,081 (GRCm39) missense probably benign 0.34
R5987:Gtf2e2 UTSW 8 34,266,080 (GRCm39) missense probably damaging 1.00
R6337:Gtf2e2 UTSW 8 34,266,043 (GRCm39) nonsense probably null
R6949:Gtf2e2 UTSW 8 34,248,726 (GRCm39) missense probably damaging 1.00
R7607:Gtf2e2 UTSW 8 34,266,493 (GRCm39) missense probably benign 0.28
R8532:Gtf2e2 UTSW 8 34,248,633 (GRCm39) missense probably damaging 1.00
R9570:Gtf2e2 UTSW 8 34,252,076 (GRCm39) missense probably damaging 1.00
Posted On 2011-12-09