Incidental Mutation 'IGL00839:Taf2'
ID14355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf2
Ensembl Gene ENSMUSG00000037343
Gene NameTATA-box binding protein associated factor 2
SynonymsCIF150, 150kDa, TAF2B, 4732460C16Rik, TAFII150
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.979) question?
Stock #IGL00839
Quality Score
Status
Chromosome15
Chromosomal Location55015131-55072152 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 55045778 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 690 (C690*)
Ref Sequence ENSEMBL: ENSMUSP00000043733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041733]
Predicted Effect probably null
Transcript: ENSMUST00000041733
AA Change: C690*
SMART Domains Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: C690*

DomainStartEndE-ValueType
Pfam:Peptidase_M1 21 406 5.6e-17 PFAM
SCOP:d1gw5a_ 606 973 6e-7 SMART
low complexity region 987 998 N/A INTRINSIC
low complexity region 1142 1175 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228360
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,660,916 S1031T probably benign Het
a T A 2: 155,045,673 F18I probably benign Het
Acsl4 A T X: 142,339,952 N421K possibly damaging Het
Ampd1 A G 3: 103,099,694 E745G possibly damaging Het
Ankrd44 T C 1: 54,667,435 N436D probably benign Het
Ap1s2 A G X: 163,926,955 Y160C probably damaging Het
Bms1 C T 6: 118,405,291 V429M probably benign Het
Cep57l1 T C 10: 41,731,093 E158G probably damaging Het
Cldn34b4 T A X: 76,397,349 C71S probably damaging Het
Col1a2 C T 6: 4,531,095 probably benign Het
Crisp3 T G 17: 40,239,256 probably null Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Defa24 T A 8: 21,734,697 L54H probably damaging Het
Dennd1a A G 2: 37,816,982 V504A probably benign Het
Eloa G A 4: 136,011,359 R97C probably damaging Het
Espl1 T C 15: 102,320,547 probably benign Het
Fgb T A 3: 83,043,291 R385S possibly damaging Het
Glod4 T A 11: 76,233,278 H223L probably benign Het
Gm13084 T C 4: 143,812,723 T67A probably benign Het
Hrh1 C T 6: 114,480,322 T188I probably damaging Het
Hsph1 G T 5: 149,618,454 A769D possibly damaging Het
Jak2 C T 19: 29,301,647 P933S probably damaging Het
Lrrd1 T A 5: 3,850,017 D107E probably benign Het
Osbpl8 T A 10: 111,291,510 S776R probably benign Het
Pcna C T 2: 132,251,420 V136I probably benign Het
Pde11a A G 2: 76,215,385 F365S probably damaging Het
Pi15 A G 1: 17,621,523 H183R probably damaging Het
Plce1 A G 19: 38,698,562 Y638C probably damaging Het
Pnpla6 A G 8: 3,542,299 D1196G probably benign Het
Psg22 A G 7: 18,722,968 I220V probably benign Het
Rap1gap2 A T 11: 74,437,448 Y97N probably damaging Het
Taf3 A T 2: 9,952,917 D146E probably damaging Het
Tnrc6c A G 11: 117,714,185 T49A possibly damaging Het
Trdn T C 10: 33,471,606 probably null Het
Ttc29 C T 8: 78,333,756 T435I probably benign Het
Vps37b T C 5: 124,010,751 T74A possibly damaging Het
Zbtb11 T A 16: 56,000,602 Y687* probably null Het
Other mutations in Taf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Taf2 APN 15 55071449 critical splice acceptor site probably null
IGL00475:Taf2 APN 15 55055850 nonsense probably null
IGL00549:Taf2 APN 15 55031115 missense probably benign 0.03
IGL01089:Taf2 APN 15 55016581 missense probably benign
IGL01305:Taf2 APN 15 55048274 missense probably damaging 0.99
IGL01532:Taf2 APN 15 55049486 missense possibly damaging 0.94
IGL01903:Taf2 APN 15 55060016 missense probably benign 0.03
IGL02324:Taf2 APN 15 55028376 missense probably benign
IGL02328:Taf2 APN 15 55028376 missense probably benign
IGL02405:Taf2 APN 15 55034155 splice site probably benign
IGL02671:Taf2 APN 15 55034176 missense probably benign 0.01
IGL02832:Taf2 APN 15 55016563 missense probably benign 0.01
IGL03105:Taf2 APN 15 55045799 missense probably benign 0.26
IGL03118:Taf2 APN 15 55052163 missense probably damaging 1.00
ANU22:Taf2 UTSW 15 55048274 missense probably damaging 0.99
R0104:Taf2 UTSW 15 55038338 missense probably benign 0.02
R0104:Taf2 UTSW 15 55038338 missense probably benign 0.02
R0183:Taf2 UTSW 15 55055790 missense possibly damaging 0.89
R0326:Taf2 UTSW 15 55047460 missense probably damaging 0.97
R0362:Taf2 UTSW 15 55045929 missense probably damaging 1.00
R0423:Taf2 UTSW 15 55064682 missense probably benign 0.02
R0562:Taf2 UTSW 15 55022188 splice site probably benign
R0609:Taf2 UTSW 15 55060050 missense probably damaging 1.00
R0655:Taf2 UTSW 15 55038294 missense probably damaging 1.00
R0689:Taf2 UTSW 15 55063065 missense possibly damaging 0.60
R0743:Taf2 UTSW 15 55016461 small deletion probably benign
R0898:Taf2 UTSW 15 55060084 missense probably damaging 0.97
R0969:Taf2 UTSW 15 55031157 critical splice acceptor site probably null
R0974:Taf2 UTSW 15 55016461 small deletion probably benign
R1145:Taf2 UTSW 15 55016461 small deletion probably benign
R1145:Taf2 UTSW 15 55016461 small deletion probably benign
R1160:Taf2 UTSW 15 55071397 missense probably benign 0.01
R1376:Taf2 UTSW 15 55016461 small deletion probably benign
R1388:Taf2 UTSW 15 55036625 missense probably benign 0.00
R1416:Taf2 UTSW 15 55038410 missense possibly damaging 0.95
R1458:Taf2 UTSW 15 55059915 missense probably damaging 0.99
R1477:Taf2 UTSW 15 55062172 missense possibly damaging 0.87
R1755:Taf2 UTSW 15 55016454 missense probably damaging 1.00
R1766:Taf2 UTSW 15 55071397 missense probably benign 0.01
R2090:Taf2 UTSW 15 55016486 missense probably damaging 0.99
R2228:Taf2 UTSW 15 55064646 missense possibly damaging 0.94
R2519:Taf2 UTSW 15 55052247 missense probably benign 0.03
R4073:Taf2 UTSW 15 55052237 missense probably damaging 1.00
R4470:Taf2 UTSW 15 55058880 missense possibly damaging 0.70
R4471:Taf2 UTSW 15 55058880 missense possibly damaging 0.70
R4472:Taf2 UTSW 15 55058880 missense possibly damaging 0.70
R4716:Taf2 UTSW 15 55065968 missense probably benign 0.02
R4937:Taf2 UTSW 15 55027223 nonsense probably null
R5082:Taf2 UTSW 15 55060045 missense probably benign 0.41
R5335:Taf2 UTSW 15 55045740 missense probably benign 0.14
R5383:Taf2 UTSW 15 55049419 missense possibly damaging 0.78
R5771:Taf2 UTSW 15 55059939 missense probably benign 0.01
R5862:Taf2 UTSW 15 55048323 missense possibly damaging 0.95
R5873:Taf2 UTSW 15 55038422 missense probably benign 0.00
R5908:Taf2 UTSW 15 55072006 unclassified probably benign
R6033:Taf2 UTSW 15 55058901 missense probably damaging 1.00
R6033:Taf2 UTSW 15 55058901 missense probably damaging 1.00
R6159:Taf2 UTSW 15 55063044 missense possibly damaging 0.48
R6568:Taf2 UTSW 15 55064630 missense probably damaging 1.00
R7094:Taf2 UTSW 15 55060086 missense probably benign 0.27
R7174:Taf2 UTSW 15 55048739 missense possibly damaging 0.51
R7241:Taf2 UTSW 15 55062141 missense probably benign 0.01
Posted On2012-12-06