Incidental Mutation 'R8832:Taf2'
ID 673948
Institutional Source Beutler Lab
Gene Symbol Taf2
Ensembl Gene ENSMUSG00000037343
Gene Name TATA-box binding protein associated factor 2
Synonyms 150kDa, TAFII150, CIF150, 4732460C16Rik, TAF2B
MMRRC Submission 068660-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8832 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 54878527-54935548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 54928001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 134 (L134R)
Ref Sequence ENSEMBL: ENSMUSP00000043733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041733]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000041733
AA Change: L134R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: L134R

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 99% (81/82)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,100,341 (GRCm39) E238V probably damaging Het
Adh6b T C 3: 138,055,463 (GRCm39) V71A probably benign Het
Agmat G A 4: 141,474,320 (GRCm39) R67H probably benign Het
AI182371 T C 2: 34,985,909 (GRCm39) D49G unknown Het
Ak7 A G 12: 105,708,598 (GRCm39) N351S possibly damaging Het
Aldh3b1 G T 19: 3,964,025 (GRCm39) R426S probably damaging Het
Aldh4a1 A G 4: 139,371,466 (GRCm39) D460G probably benign Het
Aox4 A T 1: 58,294,649 (GRCm39) M953L probably benign Het
Arhgap32 C T 9: 32,172,115 (GRCm39) P1632S possibly damaging Het
Armh1 A G 4: 117,094,867 (GRCm39) F58L probably damaging Het
Baz1b C T 5: 135,246,230 (GRCm39) R560W possibly damaging Het
Bbs10 C T 10: 111,136,266 (GRCm39) Q460* probably null Het
BC034090 A C 1: 155,102,034 (GRCm39) S77A probably damaging Het
Bltp2 A G 11: 78,158,064 (GRCm39) K409E probably benign Het
Brca2 A G 5: 150,465,611 (GRCm39) K1792E possibly damaging Het
Cadps2 A T 6: 23,587,536 (GRCm39) L318Q possibly damaging Het
Catsperg2 A G 7: 29,397,269 (GRCm39) V1078A probably benign Het
Ccno A G 13: 113,126,239 (GRCm39) N236S probably benign Het
Chct1 A G 11: 85,062,037 (GRCm39) D12G probably damaging Het
Cobll1 A T 2: 64,929,602 (GRCm39) S575T probably damaging Het
Col6a4 A G 9: 105,949,353 (GRCm39) Y761H probably benign Het
Cyp2j9 G T 4: 96,474,121 (GRCm39) H106Q probably benign Het
Dennd2c T A 3: 103,059,720 (GRCm39) probably null Het
Drd5 G A 5: 38,477,078 (GRCm39) V24M probably benign Het
Dthd1 T C 5: 62,971,608 (GRCm39) S144P probably benign Het
Fcna C A 2: 25,516,145 (GRCm39) R124L possibly damaging Het
Fmnl2 A G 2: 52,944,584 (GRCm39) S188G Het
Ggt1 A T 10: 75,410,173 (GRCm39) H35L possibly damaging Het
Gphn A T 12: 78,459,174 (GRCm39) silent Het
Hic1 G A 11: 75,057,728 (GRCm39) A387V possibly damaging Het
Hycc2 A T 1: 58,587,832 (GRCm39) I127N possibly damaging Het
Igf1r T A 7: 67,875,769 (GRCm39) F1244I probably damaging Het
Kcnk7 T C 19: 5,754,736 (GRCm39) V78A probably damaging Het
Kit A G 5: 75,799,791 (GRCm39) N508D probably benign Het
Klk1b22 A T 7: 43,764,277 (GRCm39) E68D probably benign Het
Klra4 C T 6: 130,021,019 (GRCm39) D259N probably benign Het
Krtap2-4 A T 11: 99,505,246 (GRCm39) C122S unknown Het
Map3k1 T G 13: 111,889,015 (GRCm39) H1314P possibly damaging Het
Mast2 C T 4: 116,168,875 (GRCm39) probably null Het
Mfsd2a A G 4: 122,843,102 (GRCm39) V393A probably benign Het
Myh7b T A 2: 155,475,182 (GRCm39) V1858E probably benign Het
Myo1c G A 11: 75,561,072 (GRCm39) V793I probably benign Het
Myt1l T A 12: 29,970,351 (GRCm39) N1145K unknown Het
Nckap1l T A 15: 103,387,242 (GRCm39) S706T probably benign Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Odf2l C T 3: 144,833,820 (GRCm39) S160L probably benign Het
Or10ag54 T A 2: 87,099,743 (GRCm39) M206K probably benign Het
Or2av9 T C 11: 58,381,063 (GRCm39) I173V possibly damaging Het
Or4p18 A G 2: 88,233,137 (GRCm39) I47T probably damaging Het
Or56b34 T C 7: 104,937,435 (GRCm39) L45P possibly damaging Het
Or8g53 T C 9: 39,683,886 (GRCm39) D70G probably damaging Het
Pclo T C 5: 14,838,464 (GRCm39) W1424R Het
Pde8a A G 7: 80,956,498 (GRCm39) N299S probably benign Het
Pi4kb C T 3: 94,900,344 (GRCm39) T326M probably damaging Het
Pip4k2c A T 10: 127,037,037 (GRCm39) H177Q probably damaging Het
Pld1 T A 3: 28,177,846 (GRCm39) W686R Het
Ppp1r3b A T 8: 35,851,419 (GRCm39) D86V probably damaging Het
Ppp1r3g C T 13: 36,153,143 (GRCm39) R188* probably null Het
Pramel48 G T 5: 95,630,939 (GRCm39) C272F possibly damaging Het
Ptbp1 A G 10: 79,699,023 (GRCm39) E527G probably damaging Het
Rasef T C 4: 73,698,558 (GRCm39) probably benign Het
Rce1 A T 19: 4,675,532 (GRCm39) C34S unknown Het
Rnf144a T C 12: 26,370,948 (GRCm39) probably benign Het
Rpl7 C T 1: 16,173,485 (GRCm39) R88H possibly damaging Het
Rubcnl A T 14: 75,269,359 (GRCm39) T6S Het
Samd9l A T 6: 3,374,990 (GRCm39) V757D probably damaging Het
Sec22c A G 9: 121,514,638 (GRCm39) V221A probably benign Het
Slc16a6 A G 11: 109,345,932 (GRCm39) Y444H probably benign Het
Slc6a15 A T 10: 103,225,179 (GRCm39) Y89F probably damaging Het
Smg1 A G 7: 117,739,006 (GRCm39) V3466A probably benign Het
Sobp G A 10: 43,036,824 (GRCm39) T38I probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Srsf5 T A 12: 80,996,278 (GRCm39) F151I probably damaging Het
Tbc1d1 A G 5: 64,442,020 (GRCm39) probably benign Het
Thap1 C T 8: 26,648,261 (GRCm39) probably benign Het
Tmc5 A T 7: 118,222,332 (GRCm39) M11L probably benign Het
Tnfaip8 ACACACTCTCTCTCTC AC 18: 50,179,908 (GRCm39) probably benign Het
Tomm7 T C 5: 24,049,047 (GRCm39) K9E possibly damaging Het
Trem3 T C 17: 48,556,865 (GRCm39) V112A probably benign Het
Vmn1r178 G A 7: 23,593,264 (GRCm39) C104Y probably damaging Het
Zdhhc20 A T 14: 58,080,721 (GRCm39) S263T possibly damaging Het
Zdhhc20 A G 14: 58,103,089 (GRCm39) S87P probably benign Het
Zfp423 C A 8: 88,507,827 (GRCm39) C839F probably damaging Het
Other mutations in Taf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Taf2 APN 15 54,934,845 (GRCm39) critical splice acceptor site probably null
IGL00475:Taf2 APN 15 54,919,246 (GRCm39) nonsense probably null
IGL00549:Taf2 APN 15 54,894,511 (GRCm39) missense probably benign 0.03
IGL00839:Taf2 APN 15 54,909,174 (GRCm39) nonsense probably null
IGL01089:Taf2 APN 15 54,879,977 (GRCm39) missense probably benign
IGL01305:Taf2 APN 15 54,911,670 (GRCm39) missense probably damaging 0.99
IGL01532:Taf2 APN 15 54,912,882 (GRCm39) missense possibly damaging 0.94
IGL01903:Taf2 APN 15 54,923,412 (GRCm39) missense probably benign 0.03
IGL02324:Taf2 APN 15 54,891,772 (GRCm39) missense probably benign
IGL02328:Taf2 APN 15 54,891,772 (GRCm39) missense probably benign
IGL02405:Taf2 APN 15 54,897,551 (GRCm39) splice site probably benign
IGL02671:Taf2 APN 15 54,897,572 (GRCm39) missense probably benign 0.01
IGL02832:Taf2 APN 15 54,879,959 (GRCm39) missense probably benign 0.01
IGL03105:Taf2 APN 15 54,909,195 (GRCm39) missense probably benign 0.26
IGL03118:Taf2 APN 15 54,915,559 (GRCm39) missense probably damaging 1.00
ANU22:Taf2 UTSW 15 54,911,670 (GRCm39) missense probably damaging 0.99
R0104:Taf2 UTSW 15 54,901,734 (GRCm39) missense probably benign 0.02
R0104:Taf2 UTSW 15 54,901,734 (GRCm39) missense probably benign 0.02
R0183:Taf2 UTSW 15 54,919,186 (GRCm39) missense possibly damaging 0.89
R0326:Taf2 UTSW 15 54,910,856 (GRCm39) missense probably damaging 0.97
R0362:Taf2 UTSW 15 54,909,325 (GRCm39) missense probably damaging 1.00
R0423:Taf2 UTSW 15 54,928,078 (GRCm39) missense probably benign 0.02
R0562:Taf2 UTSW 15 54,885,584 (GRCm39) splice site probably benign
R0609:Taf2 UTSW 15 54,923,446 (GRCm39) missense probably damaging 1.00
R0655:Taf2 UTSW 15 54,901,690 (GRCm39) missense probably damaging 1.00
R0689:Taf2 UTSW 15 54,926,461 (GRCm39) missense possibly damaging 0.60
R0743:Taf2 UTSW 15 54,879,857 (GRCm39) small deletion probably benign
R0898:Taf2 UTSW 15 54,923,480 (GRCm39) missense probably damaging 0.97
R0969:Taf2 UTSW 15 54,894,553 (GRCm39) critical splice acceptor site probably null
R0974:Taf2 UTSW 15 54,879,857 (GRCm39) small deletion probably benign
R1145:Taf2 UTSW 15 54,879,857 (GRCm39) small deletion probably benign
R1145:Taf2 UTSW 15 54,879,857 (GRCm39) small deletion probably benign
R1160:Taf2 UTSW 15 54,934,793 (GRCm39) missense probably benign 0.01
R1376:Taf2 UTSW 15 54,879,857 (GRCm39) small deletion probably benign
R1388:Taf2 UTSW 15 54,900,021 (GRCm39) missense probably benign 0.00
R1416:Taf2 UTSW 15 54,901,806 (GRCm39) missense possibly damaging 0.95
R1458:Taf2 UTSW 15 54,923,311 (GRCm39) missense probably damaging 0.99
R1477:Taf2 UTSW 15 54,925,568 (GRCm39) missense possibly damaging 0.87
R1755:Taf2 UTSW 15 54,879,850 (GRCm39) missense probably damaging 1.00
R1766:Taf2 UTSW 15 54,934,793 (GRCm39) missense probably benign 0.01
R2090:Taf2 UTSW 15 54,879,882 (GRCm39) missense probably damaging 0.99
R2228:Taf2 UTSW 15 54,928,042 (GRCm39) missense possibly damaging 0.94
R2519:Taf2 UTSW 15 54,915,643 (GRCm39) missense probably benign 0.03
R4073:Taf2 UTSW 15 54,915,633 (GRCm39) missense probably damaging 1.00
R4470:Taf2 UTSW 15 54,922,276 (GRCm39) missense possibly damaging 0.70
R4471:Taf2 UTSW 15 54,922,276 (GRCm39) missense possibly damaging 0.70
R4472:Taf2 UTSW 15 54,922,276 (GRCm39) missense possibly damaging 0.70
R4716:Taf2 UTSW 15 54,929,364 (GRCm39) missense probably benign 0.02
R4937:Taf2 UTSW 15 54,890,619 (GRCm39) nonsense probably null
R5082:Taf2 UTSW 15 54,923,441 (GRCm39) missense probably benign 0.41
R5335:Taf2 UTSW 15 54,909,136 (GRCm39) missense probably benign 0.14
R5383:Taf2 UTSW 15 54,912,815 (GRCm39) missense possibly damaging 0.78
R5771:Taf2 UTSW 15 54,923,335 (GRCm39) missense probably benign 0.01
R5862:Taf2 UTSW 15 54,911,719 (GRCm39) missense possibly damaging 0.95
R5873:Taf2 UTSW 15 54,901,818 (GRCm39) missense probably benign 0.00
R5908:Taf2 UTSW 15 54,935,402 (GRCm39) unclassified probably benign
R6033:Taf2 UTSW 15 54,922,297 (GRCm39) missense probably damaging 1.00
R6033:Taf2 UTSW 15 54,922,297 (GRCm39) missense probably damaging 1.00
R6159:Taf2 UTSW 15 54,926,440 (GRCm39) missense possibly damaging 0.48
R6568:Taf2 UTSW 15 54,928,026 (GRCm39) missense probably damaging 1.00
R7094:Taf2 UTSW 15 54,923,482 (GRCm39) missense probably benign 0.27
R7174:Taf2 UTSW 15 54,912,135 (GRCm39) missense possibly damaging 0.51
R7241:Taf2 UTSW 15 54,925,537 (GRCm39) missense probably benign 0.01
R7561:Taf2 UTSW 15 54,919,229 (GRCm39) missense probably benign 0.16
R7583:Taf2 UTSW 15 54,928,072 (GRCm39) nonsense probably null
R7818:Taf2 UTSW 15 54,929,326 (GRCm39) missense probably benign
R7905:Taf2 UTSW 15 54,910,828 (GRCm39) missense possibly damaging 0.90
R8006:Taf2 UTSW 15 54,912,097 (GRCm39) missense probably damaging 1.00
R8017:Taf2 UTSW 15 54,928,013 (GRCm39) missense possibly damaging 0.66
R8019:Taf2 UTSW 15 54,928,013 (GRCm39) missense possibly damaging 0.66
R8119:Taf2 UTSW 15 54,894,526 (GRCm39) missense probably benign 0.00
R8127:Taf2 UTSW 15 54,923,384 (GRCm39) missense probably damaging 1.00
R8128:Taf2 UTSW 15 54,923,384 (GRCm39) missense probably damaging 1.00
R8129:Taf2 UTSW 15 54,923,384 (GRCm39) missense probably damaging 1.00
R8278:Taf2 UTSW 15 54,929,361 (GRCm39) nonsense probably null
R8290:Taf2 UTSW 15 54,926,416 (GRCm39) missense probably damaging 1.00
R8762:Taf2 UTSW 15 54,910,849 (GRCm39) missense probably benign 0.16
R8916:Taf2 UTSW 15 54,899,931 (GRCm39) missense probably benign 0.26
R8937:Taf2 UTSW 15 54,910,849 (GRCm39) missense probably benign 0.16
R9006:Taf2 UTSW 15 54,909,301 (GRCm39) missense possibly damaging 0.94
R9138:Taf2 UTSW 15 54,879,857 (GRCm39) small deletion probably benign
R9240:Taf2 UTSW 15 54,926,464 (GRCm39) missense probably null 1.00
R9257:Taf2 UTSW 15 54,929,409 (GRCm39) missense possibly damaging 0.46
R9485:Taf2 UTSW 15 54,911,667 (GRCm39) missense probably benign 0.05
R9762:Taf2 UTSW 15 54,894,440 (GRCm39) critical splice donor site probably null
R9766:Taf2 UTSW 15 54,910,881 (GRCm39) critical splice acceptor site probably null
R9796:Taf2 UTSW 15 54,910,832 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGCATAGCTCCTTTGATAGAG -3'
(R):5'- TAGTATCAGGATTGGATAACTTGGC -3'

Sequencing Primer
(F):5'- AGCTCCTTTGATAGAGAACATTCC -3'
(R):5'- AATTGATGCCGTTGATATTTAGGGAG -3'
Posted On 2021-07-15