Incidental Mutation 'R8532:Gtf2e2'
ID 659107
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 068502-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8532 (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 C at 34248633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 140 (F140S)
Ref Sequence ENSEMBL: ENSMUSP00000132287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167264] [ENSMUST00000170705] [ENSMUST00000171010] [ENSMUST00000190639]
AlphaFold Q9D902
Predicted Effect probably damaging
Transcript: ENSMUST00000167264
AA Change: F140S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129834
Gene: ENSMUSG00000031585
AA Change: F140S

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: F140S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126284
Gene: ENSMUSG00000031585
AA Change: F140S

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: F140S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132287
Gene: ENSMUSG00000031585
AA Change: F140S

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C A 2: 69,090,035 (GRCm39) V950L possibly damaging Het
Acsl6 T A 11: 54,218,001 (GRCm39) V238E probably damaging Het
Adam2 C A 14: 66,293,970 (GRCm39) A286S probably damaging Het
Ankrd17 A T 5: 90,412,679 (GRCm39) I1215N probably damaging Het
Anxa2 T C 9: 69,374,594 (GRCm39) Y24H probably benign Het
Brms1l T C 12: 55,891,264 (GRCm39) L106P probably damaging Het
Cacna1e A T 1: 154,341,510 (GRCm39) L1166Q probably damaging Het
Ccdc110 T C 8: 46,396,032 (GRCm39) L641P probably damaging Het
Cep78 T A 19: 15,936,948 (GRCm39) D586V possibly damaging Het
Chek1 T C 9: 36,630,988 (GRCm39) D142G probably benign Het
Dennd1b A G 1: 139,097,912 (GRCm39) probably benign Het
Eif2b5 T C 16: 20,323,956 (GRCm39) V433A probably damaging Het
Enpep A T 3: 129,070,302 (GRCm39) Y868* probably null Het
Fam149a T A 8: 45,801,991 (GRCm39) T414S possibly damaging Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gm3604 A T 13: 62,516,769 (GRCm39) C530S possibly damaging Het
Ighv1-63 T C 12: 115,459,270 (GRCm39) D109G probably damaging Het
Igkv3-9 G C 6: 70,565,706 (GRCm39) V102L possibly damaging Het
Kif12 G A 4: 63,087,656 (GRCm39) Q276* probably null Het
Lrba C T 3: 86,664,790 (GRCm39) R557C probably damaging Het
Matn2 C A 15: 34,316,699 (GRCm39) Q14K probably benign Het
Mical2 C A 7: 111,917,751 (GRCm39) F369L probably damaging Het
Or13a17 T C 7: 140,271,712 (GRCm39) V298A probably damaging Het
Or52e8b T C 7: 104,673,773 (GRCm39) Y138C probably damaging Het
Or9m2 A G 2: 87,820,913 (GRCm39) T153A probably damaging Het
Pramel1 A G 4: 143,125,125 (GRCm39) T350A probably benign Het
Rcbtb1 T A 14: 59,447,973 (GRCm39) C72* probably null Het
Ros1 T G 10: 51,974,852 (GRCm39) T1578P possibly damaging Het
Rps6kb2 A T 19: 4,209,243 (GRCm39) I200N probably damaging Het
Slc17a4 C A 13: 24,088,718 (GRCm39) W223L probably damaging Het
Slitrk5 A T 14: 111,916,909 (GRCm39) M178L probably benign Het
Snrpa A G 7: 26,891,027 (GRCm39) probably null Het
Syt10 C T 15: 89,676,889 (GRCm39) E366K probably damaging Het
Tbc1d16 A G 11: 119,045,993 (GRCm39) F484L probably benign Het
Tbc1d30 A T 10: 121,103,335 (GRCm39) W566R probably damaging Het
Tcaf1 A T 6: 42,655,065 (GRCm39) I551K probably damaging Het
Tdrd7 A G 4: 46,016,920 (GRCm39) T654A probably damaging Het
Timm44 A T 8: 4,310,549 (GRCm39) I401N possibly damaging Het
Xcl1 T A 1: 164,759,515 (GRCm39) T62S probably damaging Het
Zbtb11 A T 16: 55,811,252 (GRCm39) H470L probably benign Het
Zfp57 A G 17: 37,320,793 (GRCm39) T213A possibly damaging Het
Zfp715 A C 7: 42,948,829 (GRCm39) I377S possibly damaging Het
Zfp715 A T 7: 42,949,134 (GRCm39) D275E 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
R9570:Gtf2e2 UTSW 8 34,252,076 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGGTCTGGGATCCTAGATATCTG -3'
(R):5'- GGGCTACATACATAGTAAGACCCTG -3'

Sequencing Primer
(F):5'- ATCCTAGATATCTGGTGTTTTAGGTC -3'
(R):5'- CATACATAGTAAGACCCTGTCTCAG -3'
Posted On 2021-01-18