Incidental Mutation 'IGL02154:Gtf2e2'
ID 282176
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 # IGL02154
Quality Score
Status
Chromosome 8
Chromosomal Location 34221942-34267201 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 34245989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167264] [ENSMUST00000170705] [ENSMUST00000171010] [ENSMUST00000187392] [ENSMUST00000190639]
AlphaFold Q9D902
Predicted Effect probably null
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 null
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 null
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 probably benign
Transcript: ENSMUST00000187392
SMART Domains Protein: ENSMUSP00000141167
Gene: ENSMUSG00000031585

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000190639
SMART Domains Protein: ENSMUSP00000141016
Gene: ENSMUSG00000031585

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Pfam:TFIIE_beta 73 127 2.5e-16 PFAM
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armh4 G A 14: 50,010,399 (GRCm39) T436I possibly damaging Het
AW551984 G A 9: 39,500,398 (GRCm39) R787C possibly damaging Het
Cadm1 A T 9: 47,725,201 (GRCm39) I321L probably benign Het
Cfap57 A G 4: 118,470,214 (GRCm39) L222P probably damaging Het
Cox20 A G 1: 178,150,119 (GRCm39) I98V probably benign Het
Dmrta1 A G 4: 89,580,150 (GRCm39) N370S probably benign Het
Dnah17 A G 11: 118,015,087 (GRCm39) F386L probably benign Het
Fam135b T C 15: 71,320,559 (GRCm39) I1323V probably benign Het
Fndc3b A G 3: 27,592,266 (GRCm39) S211P probably damaging Het
Galnt10 T G 11: 57,675,531 (GRCm39) L597V probably damaging Het
Inpp4b T A 8: 82,696,130 (GRCm39) probably benign Het
Irag2 T G 6: 145,083,967 (GRCm39) M44R possibly damaging Het
Lacc1 A G 14: 77,270,727 (GRCm39) V269A probably benign Het
Mdn1 A G 4: 32,740,395 (GRCm39) D3750G probably benign Het
Mme A T 3: 63,250,976 (GRCm39) Q339L probably benign Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Myrf A T 19: 10,193,482 (GRCm39) I558N probably damaging Het
Or52e8 C T 7: 104,625,188 (GRCm39) M1I probably null Het
Phb1 A G 11: 95,565,997 (GRCm39) I94V possibly damaging Het
Prg4 T A 1: 150,330,613 (GRCm39) probably benign Het
Sirpb1a T C 3: 15,475,504 (GRCm39) T344A probably damaging Het
Skap2 T C 6: 51,989,308 (GRCm39) probably benign Het
Slc29a1 A G 17: 45,897,089 (GRCm39) I399T probably damaging Het
Sorl1 C T 9: 41,915,330 (GRCm39) V1300I probably benign Het
Tas2r117 T C 6: 132,780,678 (GRCm39) V272A probably benign Het
Tctn2 C A 5: 124,746,624 (GRCm39) noncoding transcript Het
Tmem51 T C 4: 141,759,089 (GRCm39) N220D probably damaging Het
Trak2 T C 1: 58,947,888 (GRCm39) D584G probably damaging Het
Vmn1r78 A G 7: 11,886,472 (GRCm39) I28V probably benign Het
Vmn2r95 A C 17: 18,672,248 (GRCm39) I662L probably benign Het
Vwa8 C A 14: 79,086,733 (GRCm39) R4S possibly damaging Het
Other mutations in Gtf2e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Gtf2e2 APN 8 34,266,473 (GRCm39) splice site probably benign
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 2015-04-16