Incidental Mutation 'R9240:Taf2'
ID 700712
Institutional Source Beutler Lab
Gene Symbol Taf2
Ensembl Gene ENSMUSG00000037343
Gene Name TATA-box binding protein associated factor 2
Synonyms CIF150, 150kDa, TAF2B, 4732460C16Rik, TAFII150
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9240 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 55015131-55072152 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55063068 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 162 (V162E)
Ref Sequence ENSEMBL: ENSMUSP00000043733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041733]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000041733
AA Change: V162E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: V162E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik A G 5: 107,452,168 D175G probably benign Het
Acsl1 A G 8: 46,513,369 I187V probably benign Het
Adam7 C A 14: 68,509,759 V584L probably benign Het
Arsg T A 11: 109,572,267 V451E probably benign Het
Cacnb3 C T 15: 98,642,605 P338L probably benign Het
Cars G T 7: 143,584,796 P218Q probably benign Het
Ccdc180 T C 4: 45,917,566 probably null Het
Cdh23 C T 10: 60,379,265 D1431N probably benign Het
Cenpf A T 1: 189,656,970 V1555D probably benign Het
Creb3l2 T C 6: 37,334,571 N428D possibly damaging Het
Crebbp A T 16: 4,099,673 probably null Het
Cstf1 C A 2: 172,375,749 P94Q probably damaging Het
Dis3l A G 9: 64,310,165 probably null Het
Dlc1 A T 8: 36,584,851 D124E probably benign Het
Dpysl3 C T 18: 43,354,802 V159I probably benign Het
Eea1 T G 10: 95,940,962 I5S probably benign Het
F7 A T 8: 13,035,173 T400S probably damaging Het
Fbxo38 C A 18: 62,518,561 E558* probably null Het
Fcgr2b C T 1: 170,969,473 probably null Het
Fktn G A 4: 53,734,854 G125D probably benign Het
Flt1 T C 5: 147,681,866 N220D probably benign Het
Fzd9 A G 5: 135,249,958 Y358H probably damaging Het
Gcc2 C T 10: 58,270,576 Q545* probably null Het
Gkn3 T C 6: 87,388,807 N10S probably benign Het
Gls C G 1: 52,168,394 V604L probably benign Het
Gtf2i T A 5: 134,263,765 Q375L probably benign Het
Hells A G 19: 38,946,845 M320V possibly damaging Het
Ints3 T C 3: 90,403,103 S497G possibly damaging Het
Iqub C A 6: 24,505,623 L95F probably benign Het
Mat1a G A 14: 41,105,616 C9Y probably benign Het
Mfsd4b5 A G 10: 39,975,103 L103P probably damaging Het
Ms4a14 T C 19: 11,304,500 I231M possibly damaging Het
Muc16 T C 9: 18,538,013 T7580A unknown Het
Myb A T 10: 21,140,601 L670Q probably damaging Het
Nisch A G 14: 31,185,031 L236P unknown Het
Olfr1166 A C 2: 88,124,887 F33V probably benign Het
Plscr4 A T 9: 92,484,881 M183L probably benign Het
Polr1a T A 6: 71,963,677 C998* probably null Het
Prokr2 A T 2: 132,381,457 V55E possibly damaging Het
Prr12 A T 7: 45,034,651 V1655E probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,579,912 probably benign Het
Rspo1 C T 4: 124,991,339 L3F probably benign Het
Rtn4rl1 C A 11: 75,265,256 D171E probably damaging Het
Ryr1 A G 7: 29,043,888 F3895L probably damaging Het
Scn8a G T 15: 101,017,187 G1211* probably null Het
Slc4a11 C T 2: 130,691,744 A100T probably damaging Het
Smarcd3 T A 5: 24,596,833 M103L probably benign Het
Smg1 A T 7: 118,139,808 S3458T probably benign Het
Smg6 C T 11: 74,935,058 R738W probably damaging Het
Spef2 G A 15: 9,578,315 Q1708* probably null Het
Tbc1d23 A T 16: 57,212,385 N154K possibly damaging Het
Tbx3 A G 5: 119,680,895 S532G probably benign Het
Tedc1 T C 12: 113,157,690 I177T probably benign Het
Tnrc6b G C 15: 80,880,061 G588A probably damaging Het
Top2a T A 11: 99,010,542 K519* probably null Het
Trim47 T A 11: 116,108,322 M243L probably benign Het
Ttn A T 2: 76,811,521 probably null Het
Uggt1 T C 1: 36,182,615 E624G possibly damaging Het
Vmn1r43 G A 6: 89,869,895 T203M probably damaging Het
Vmn2r9 A G 5: 108,848,233 V183A possibly damaging Het
Zfp212 T A 6: 47,929,098 V197E probably benign 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
IGL00839:Taf2 APN 15 55045778 nonsense probably null
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
R7561:Taf2 UTSW 15 55055833 missense probably benign 0.16
R7583:Taf2 UTSW 15 55064676 nonsense probably null
R7818:Taf2 UTSW 15 55065930 missense probably benign
R7905:Taf2 UTSW 15 55047432 missense possibly damaging 0.90
R8006:Taf2 UTSW 15 55048701 missense probably damaging 1.00
R8017:Taf2 UTSW 15 55064617 missense possibly damaging 0.66
R8019:Taf2 UTSW 15 55064617 missense possibly damaging 0.66
R8119:Taf2 UTSW 15 55031130 missense probably benign 0.00
R8127:Taf2 UTSW 15 55059988 missense probably damaging 1.00
R8128:Taf2 UTSW 15 55059988 missense probably damaging 1.00
R8129:Taf2 UTSW 15 55059988 missense probably damaging 1.00
R8278:Taf2 UTSW 15 55065965 nonsense probably null
R8290:Taf2 UTSW 15 55063020 missense probably damaging 1.00
R8762:Taf2 UTSW 15 55047453 missense probably benign 0.16
R8832:Taf2 UTSW 15 55064605 missense possibly damaging 0.86
R8916:Taf2 UTSW 15 55036535 missense probably benign 0.26
R8937:Taf2 UTSW 15 55047453 missense probably benign 0.16
R9006:Taf2 UTSW 15 55045905 missense possibly damaging 0.94
R9138:Taf2 UTSW 15 55016461 small deletion probably benign
R9257:Taf2 UTSW 15 55066013 missense possibly damaging 0.46
R9485:Taf2 UTSW 15 55048271 missense probably benign 0.05
R9762:Taf2 UTSW 15 55031044 critical splice donor site probably null
R9766:Taf2 UTSW 15 55047485 critical splice acceptor site probably null
R9796:Taf2 UTSW 15 55047436 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CAAGCTTACACTGGCCATTCC -3'
(R):5'- TTCCAGGCCTCTAGCATCTAG -3'

Sequencing Primer
(F):5'- TGGCCATTCCAGAAAATACACTG -3'
(R):5'- GGCCTCTAGCATCTAGAACTC -3'
Posted On 2022-02-07