Incidental Mutation 'IGL03213:Gtf2e2'
ID413369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2e2
Ensembl Gene ENSMUSG00000031585
Gene Namegeneral transcription factor II E, polypeptide 2 (beta subunit)
SynonymsC330006J08Rik, 34kDa
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03213
Quality Score
Status
Chromosome8
Chromosomal Location33731833-33777173 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33752497 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 76 (F76L)
Ref Sequence ENSEMBL: ENSMUSP00000132287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167264] [ENSMUST00000170705] [ENSMUST00000171010] [ENSMUST00000179364] [ENSMUST00000187392] [ENSMUST00000190639]
Predicted Effect probably damaging
Transcript: ENSMUST00000167264
AA Change: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129834
Gene: ENSMUSG00000031585
AA Change: F76L

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Pfam:TFIIE_beta 75 146 2.3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170705
AA Change: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126284
Gene: ENSMUSG00000031585
AA Change: F76L

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Pfam:TFIIE_beta 73 146 1.7e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171010
AA Change: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132287
Gene: ENSMUSG00000031585
AA Change: F76L

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Pfam:TFIIE_beta 73 146 1.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179364
SMART Domains Protein: ENSMUSP00000136891
Gene: ENSMUSG00000094500

DomainStartEndE-ValueType
Pfam:DUF4713 8 61 6.3e-23 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 damaging
Transcript: ENSMUST00000190639
AA Change: F76L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141016
Gene: ENSMUSG00000031585
AA Change: F76L

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,941,959 D447E probably damaging Het
Aldh8a1 T C 10: 21,384,717 V175A probably damaging Het
Arap2 T A 5: 62,749,095 T194S probably benign Het
Arih2 T C 9: 108,607,347 T422A probably damaging Het
Arl5b T A 2: 15,069,865 N52K probably damaging Het
Atg13 G A 2: 91,685,167 H227Y probably damaging Het
Ccdc178 T C 18: 22,120,691 T164A possibly damaging Het
Cep192 T C 18: 67,865,637 V2074A probably damaging Het
Ces2c T C 8: 104,848,040 I43T probably benign Het
Chrm3 G A 13: 9,878,184 T272I probably benign Het
Cln8 A G 8: 14,894,845 Y53C probably damaging Het
Cwc27 T A 13: 104,796,403 probably benign Het
Cyp3a13 A T 5: 137,894,267 probably benign Het
Dchs1 G T 7: 105,755,072 N2754K probably damaging Het
Dclk1 A T 3: 55,480,384 K84* probably null Het
Ednra T C 8: 77,720,219 T77A probably benign Het
Epn2 T C 11: 61,519,684 N553D probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm10784 T A 13: 49,945,274 noncoding transcript Het
Gm11492 G T 11: 87,567,358 probably null Het
Gm9047 G A 6: 29,471,793 M89I probably damaging Het
Hnrnpll A T 17: 80,034,098 V504E probably damaging Het
Ifitm2 A G 7: 140,955,764 V51A possibly damaging Het
Il16 C T 7: 83,646,500 E456K probably damaging Het
Lmod2 A T 6: 24,603,616 I197F possibly damaging Het
Lrrc14 T C 15: 76,713,783 S238P possibly damaging Het
Map3k1 A G 13: 111,748,892 probably benign Het
Phf11d C A 14: 59,349,348 R210S probably benign Het
Pigu T C 2: 155,335,371 N103S probably damaging Het
Rgsl1 A G 1: 153,825,841 V289A probably benign Het
Rp1l1 T A 14: 64,028,415 S483R probably damaging Het
Ryr2 A T 13: 11,724,387 probably benign Het
Sema3c T G 5: 17,694,639 probably benign Het
Sfmbt2 A G 2: 10,404,574 Y110C probably damaging Het
Slc12a3 T C 8: 94,335,305 V328A possibly damaging Het
Smarca2 G A 19: 26,623,975 G31D probably damaging Het
Svs1 A G 6: 48,988,345 D429G possibly damaging Het
Tenm2 T G 11: 36,023,330 E2460A probably benign Het
Trim58 T A 11: 58,651,167 W318R probably benign Het
Ube3a C T 7: 59,286,122 Q585* probably null Het
Vmn2r17 T C 5: 109,434,390 probably null Het
Zfp647 A G 15: 76,911,977 V161A possibly damaging Het
Other mutations in Gtf2e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Gtf2e2 APN 8 33776445 splice site probably benign
IGL02154:Gtf2e2 APN 8 33755961 critical splice donor site probably null
R0383:Gtf2e2 UTSW 8 33755945 missense probably damaging 1.00
R4012:Gtf2e2 UTSW 8 33755965 splice site probably benign
R4429:Gtf2e2 UTSW 8 33752493 nonsense probably null
R5987:Gtf2e2 UTSW 8 33776052 missense probably damaging 1.00
R5987:Gtf2e2 UTSW 8 33776053 missense probably benign 0.34
R6337:Gtf2e2 UTSW 8 33776015 nonsense probably null
R6949:Gtf2e2 UTSW 8 33758698 missense probably damaging 1.00
R7607:Gtf2e2 UTSW 8 33776465 missense probably benign 0.28
Posted On2016-08-02