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
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01304
Quality Score
Status
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

DomainStartEndE-ValueType
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