Incidental Mutation 'IGL01304:Gtf2b'
ID 73369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2b
Ensembl Gene ENSMUSG00000028271
Gene Name general transcription factor IIB
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01304
Quality Score
Chromosome 3
Chromosomal Location 142765045-142783606 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142781598 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 265 (S265L)
Ref Sequence ENSEMBL: ENSMUSP00000029938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029938]
AlphaFold P62915
Predicted Effect probably benign
Transcript: ENSMUST00000029938
AA Change: S265L

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029938
Gene: ENSMUSG00000028271
AA Change: S265L

Pfam:TF_Zn_Ribbon 13 55 2e-16 PFAM
CYCLIN 119 200 3.33e-16 SMART
CYCLIN 213 294 6.27e-12 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
C2cd2l T C 9: 44,319,587 N101S probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in Gtf2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1365:Gtf2b UTSW 3 142771466 missense probably damaging 0.99
R2101:Gtf2b UTSW 3 142771383 splice site probably benign
R2207:Gtf2b UTSW 3 142778320 missense probably benign 0.00
R2256:Gtf2b UTSW 3 142781424 missense probably benign
R2325:Gtf2b UTSW 3 142780090 missense probably damaging 1.00
R3833:Gtf2b UTSW 3 142771392 missense probably benign
R4786:Gtf2b UTSW 3 142781469 missense probably damaging 1.00
R6940:Gtf2b UTSW 3 142778255 missense probably damaging 1.00
R7861:Gtf2b UTSW 3 142781344 missense probably damaging 0.99
R8049:Gtf2b UTSW 3 142778214 missense probably damaging 0.98
R9105:Gtf2b UTSW 3 142783289 missense probably benign 0.02
R9785:Gtf2b UTSW 3 142771417 small deletion probably benign
R9787:Gtf2b UTSW 3 142771417 small deletion probably benign
R9788:Gtf2b UTSW 3 142771417 small deletion probably benign
R9789:Gtf2b UTSW 3 142771417 small deletion probably benign
X0027:Gtf2b UTSW 3 142783311 missense probably benign
Posted On 2013-10-07