Incidental Mutation 'R9570:Gtf2e2'
ID 721917
Institutional Source Beutler Lab
Gene Symbol Gtf2e2
Ensembl Gene ENSMUSG00000031585
Gene Name general transcription factor II E, polypeptide 2 (beta subunit)
Synonyms C330006J08Rik, 34kDa
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9570 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 34221942-34267201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34252076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 197 (D197E)
Ref Sequence ENSEMBL: ENSMUSP00000129834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167264] [ENSMUST00000170705] [ENSMUST00000171010] [ENSMUST00000190639]
AlphaFold Q9D902
Predicted Effect probably damaging
Transcript: ENSMUST00000167264
AA Change: D197E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129834
Gene: ENSMUSG00000031585
AA Change: D197E

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: D197E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126284
Gene: ENSMUSG00000031585
AA Change: D197E

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: D197E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132287
Gene: ENSMUSG00000031585
AA Change: D197E

DomainStartEndE-ValueType
low complexity region 26 45 N/A INTRINSIC
Pfam:TFIIE_beta 73 146 1.7e-27 PFAM
Predicted Effect probably benign
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C T 8: 41,277,687 (GRCm39) T26I probably benign Het
Adgrg7 A G 16: 56,570,813 (GRCm39) L405P probably damaging Het
Ankle1 A G 8: 71,859,424 (GRCm39) D106G probably damaging Het
Ankrd17 G T 5: 90,401,536 (GRCm39) D1609E Het
Anpep A G 7: 79,476,661 (GRCm39) V772A probably benign Het
Anxa8 T C 14: 33,814,509 (GRCm39) V115A possibly damaging Het
Aoc1 T C 6: 48,882,772 (GRCm39) F216S probably damaging Het
Aplf T A 6: 87,640,781 (GRCm39) E76V possibly damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Arhgap42 T A 9: 9,148,209 (GRCm39) Y120F Het
Atg2a T A 19: 6,305,749 (GRCm39) H1316Q probably benign Het
Atp8b3 A G 10: 80,361,822 (GRCm39) F743S probably benign Het
Best1 A T 19: 9,970,331 (GRCm39) W94R probably damaging Het
Catsper3 T C 13: 55,953,669 (GRCm39) probably null Het
Ccdc80 A T 16: 44,915,449 (GRCm39) E68D probably benign Het
Col8a1 T A 16: 57,448,539 (GRCm39) I324F unknown Het
Coro1c G A 5: 114,003,816 (GRCm39) R68* probably null Het
Dennd4c A G 4: 86,747,208 (GRCm39) D1464G possibly damaging Het
Dgat2 C T 7: 98,818,926 (GRCm39) V77I possibly damaging Het
Ecpas G A 4: 58,832,796 (GRCm39) R855* probably null Het
Ednra A C 8: 78,393,961 (GRCm39) N378K possibly damaging Het
Eif1ad4 A G 12: 87,862,534 (GRCm39) D132G unknown Het
Eml5 A T 12: 98,782,243 (GRCm39) D178E probably benign Het
Ethe1 G T 7: 24,293,236 (GRCm39) probably benign Het
Fgf21 C T 7: 45,264,594 (GRCm39) R46Q probably damaging Het
Flt3 C T 5: 147,309,424 (GRCm39) V198M possibly damaging Het
Fryl T C 5: 73,179,498 (GRCm39) N2970D probably benign Het
Gtf2i G A 5: 134,294,627 (GRCm39) R362W probably damaging Het
Gtpbp10 C T 5: 5,596,382 (GRCm39) G188R probably damaging Het
Gzmc A C 14: 56,469,042 (GRCm39) S226A probably benign Het
Hhatl A T 9: 121,613,282 (GRCm39) V471D possibly damaging Het
Hoxd11 T C 2: 74,512,812 (GRCm39) S26P possibly damaging Het
Ighv1-85 A T 12: 115,963,794 (GRCm39) W69R probably benign Het
Kcnk3 T C 5: 30,779,433 (GRCm39) L161P possibly damaging Het
Klk6 A G 7: 43,477,967 (GRCm39) D113G probably damaging Het
Map3k5 A G 10: 19,876,314 (GRCm39) I158V probably benign Het
Marchf8 T A 6: 116,382,639 (GRCm39) M434K probably benign Het
Mcc T C 18: 44,578,925 (GRCm39) R828G probably damaging Het
Muc4 A T 16: 32,569,695 (GRCm39) T252S possibly damaging Het
Naip5 T C 13: 100,359,821 (GRCm39) T472A probably benign Het
Nme7 A G 1: 164,206,961 (GRCm39) D282G probably benign Het
Npdc1 G T 2: 25,298,312 (GRCm39) A228S probably benign Het
Nrbp1 T A 5: 31,401,272 (GRCm39) S49R probably damaging Het
Ntan1 T C 16: 13,637,248 (GRCm39) V10A possibly damaging Het
Or10a3 A G 7: 108,480,504 (GRCm39) V103A possibly damaging Het
Or10b1 T C 10: 78,356,084 (GRCm39) V214A probably benign Het
Or51b4 A G 7: 103,530,856 (GRCm39) V198A probably benign Het
Pdcd2l T C 7: 33,892,401 (GRCm39) D156G probably benign Het
Pde11a A G 2: 75,877,157 (GRCm39) S771P probably damaging Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Pkd1l1 T A 11: 8,840,697 (GRCm39) E1237V Het
Pkp2 A T 16: 16,078,278 (GRCm39) T507S possibly damaging Het
Polm A G 11: 5,779,713 (GRCm39) Y362H probably damaging Het
Pramel12 A T 4: 143,144,514 (GRCm39) M287L probably benign Het
Prcd C T 11: 116,550,583 (GRCm39) S85F possibly damaging Het
Prox2 G A 12: 85,141,766 (GRCm39) Q146* probably null Het
Ptger1 T C 8: 84,395,461 (GRCm39) W313R probably damaging Het
Ptpn23 T C 9: 110,227,217 (GRCm39) E44G probably damaging Het
Rai1 A G 11: 60,076,568 (GRCm39) T211A probably benign Het
Rgl1 C A 1: 152,430,082 (GRCm39) D234Y possibly damaging Het
Rlf A G 4: 121,007,087 (GRCm39) V741A possibly damaging Het
Rnaseh2b T C 14: 62,597,978 (GRCm39) probably null Het
Selenon C T 4: 134,270,055 (GRCm39) R383H probably benign Het
Sh3rf2 A T 18: 42,272,620 (GRCm39) H368L possibly damaging Het
Slc9c1 A T 16: 45,380,705 (GRCm39) I544L probably benign Het
Smarca4 A G 9: 21,580,849 (GRCm39) E993G probably damaging Het
Stab1 T A 14: 30,864,638 (GRCm39) I1966F probably benign Het
Stard9 G A 2: 120,534,714 (GRCm39) S3657N probably benign Het
Tex15 G A 8: 34,067,309 (GRCm39) M2246I probably damaging Het
Ttc41 A T 10: 86,549,598 (GRCm39) N264I possibly damaging Het
Use1 T A 8: 71,820,473 (GRCm39) M96K possibly damaging Het
Vmn1r201 T C 13: 22,659,236 (GRCm39) I150T probably damaging Het
Vmn1r34 T C 6: 66,614,718 (GRCm39) I7V probably benign Het
Vps8 T A 16: 21,462,953 (GRCm39) F1406Y probably benign Het
Zfp788 A T 7: 41,300,006 (GRCm39) T881S possibly damaging Het
Zfp804a C T 2: 82,088,844 (GRCm39) T891I probably benign Het
Other mutations in Gtf2e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Gtf2e2 APN 8 34,266,473 (GRCm39) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- ACCCTAATGATTTACTGTGGGTCG -3'
(R):5'- CTATAGGCTAAGAGATGGCGATGC -3'

Sequencing Primer
(F):5'- AGAAAAGAAGCCTGTTCTCTCTCTC -3'
(R):5'- GATGGCGATGCTAAAAATCACC -3'
Posted On 2022-08-09