Incidental Mutation 'R0362:Taf2'
ID 36292
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 038568-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0362 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 54878527-54935548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54909325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 640 (V640E)
Ref Sequence ENSEMBL: ENSMUSP00000043733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041733]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041733
AA Change: V640E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: V640E

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
Meta Mutation Damage Score 0.8062 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (104/105)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,563,261 (GRCm39) Q401R probably benign Het
Acp3 A G 9: 104,191,626 (GRCm39) F220S probably damaging Het
Adam7 A G 14: 68,747,105 (GRCm39) probably benign Het
Adamts6 A G 13: 104,526,584 (GRCm39) probably null Het
Ascc3 T C 10: 50,625,051 (GRCm39) probably benign Het
Atg10 T C 13: 91,189,109 (GRCm39) probably null Het
Atm T C 9: 53,370,138 (GRCm39) I2325V possibly damaging Het
Btnl9 C T 11: 49,060,443 (GRCm39) R435H possibly damaging Het
Ccdc180 A G 4: 45,923,551 (GRCm39) K1111E probably damaging Het
Ciao2b T C 8: 105,368,222 (GRCm39) D34G probably null Het
Col11a2 T A 17: 34,281,420 (GRCm39) probably null Het
Ctcfl A G 2: 172,960,236 (GRCm39) W116R probably damaging Het
Ctsk A T 3: 95,408,255 (GRCm39) Y37F probably damaging Het
Daam2 G C 17: 49,787,813 (GRCm39) probably null Het
Dcdc2b T C 4: 129,504,031 (GRCm39) probably null Het
Ddx28 C T 8: 106,737,926 (GRCm39) R44Q probably damaging Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Dnah17 A T 11: 117,989,365 (GRCm39) M1281K probably benign Het
Dnah6 T C 6: 73,185,592 (GRCm39) S110G probably benign Het
Drc7 T C 8: 95,799,483 (GRCm39) Y553H probably benign Het
Dync2h1 T C 9: 7,005,487 (GRCm39) probably null Het
Ecm1 A G 3: 95,644,369 (GRCm39) I152T possibly damaging Het
Edc4 C G 8: 106,613,407 (GRCm39) P307R probably damaging Het
Eeig2 C T 3: 108,887,497 (GRCm39) E256K probably benign Het
Egr1 A G 18: 34,996,366 (GRCm39) T383A possibly damaging Het
Eml2 A G 7: 18,924,731 (GRCm39) probably null Het
Eno4 A G 19: 58,932,056 (GRCm39) probably benign Het
Erbb4 A T 1: 68,369,429 (GRCm39) I404K probably damaging Het
Exoc7 G T 11: 116,186,488 (GRCm39) T310K probably benign Het
Fam83e G T 7: 45,376,393 (GRCm39) V369L probably benign Het
Fancc A T 13: 63,545,970 (GRCm39) I91K possibly damaging Het
Fbn1 T C 2: 125,151,697 (GRCm39) Q2519R probably damaging Het
Fhod3 T A 18: 25,223,133 (GRCm39) C826* probably null Het
Foxi3 A G 6: 70,933,612 (GRCm39) D33G probably benign Het
Gcn1 T C 5: 115,714,167 (GRCm39) probably benign Het
Gm14221 T C 2: 160,410,310 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,384,853 (GRCm39) H630Q probably benign Het
Gpat4 T C 8: 23,670,949 (GRCm39) S88G probably benign Het
Gucy2d A T 7: 98,092,892 (GRCm39) S90C probably damaging Het
Has2 A C 15: 56,545,057 (GRCm39) C182G probably damaging Het
Heatr5a A T 12: 51,935,644 (GRCm39) S1647R probably damaging Het
Ifi35 T C 11: 101,348,038 (GRCm39) V48A probably benign Het
Lig1 T A 7: 13,030,730 (GRCm39) probably benign Het
Magi2 A G 5: 19,432,573 (GRCm39) K96R probably damaging Het
Map7d1 G T 4: 126,128,787 (GRCm39) P462Q probably damaging Het
Mdn1 A T 4: 32,746,439 (GRCm39) probably null Het
Mfsd4a A T 1: 131,987,013 (GRCm39) V105E probably damaging Het
Mrpl53 C T 6: 83,086,526 (GRCm39) R77C probably damaging Het
Mtnr1b C T 9: 15,785,600 (GRCm39) V53M probably damaging Het
Myo9b T C 8: 71,800,414 (GRCm39) W990R probably damaging Het
Myt1 A T 2: 181,405,186 (GRCm39) probably benign Het
Nf1 C T 11: 79,427,704 (GRCm39) A1766V probably damaging Het
Nlrp3 T C 11: 59,439,623 (GRCm39) V400A possibly damaging Het
Nup205 T A 6: 35,173,649 (GRCm39) probably null Het
Nxf1 T C 19: 8,741,515 (GRCm39) probably null Het
Or7a36 A T 10: 78,820,220 (GRCm39) M199L probably benign Het
P4hb T C 11: 120,454,162 (GRCm39) K311E probably benign Het
Pafah1b1 T C 11: 74,574,457 (GRCm39) N243S probably benign Het
Parp8 G A 13: 117,061,504 (GRCm39) Q141* probably null Het
Pkd2l2 A C 18: 34,568,380 (GRCm39) D543A probably benign Het
Pld5 A T 1: 175,803,146 (GRCm39) L311* probably null Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plpp5 A T 8: 26,214,219 (GRCm39) T144S probably benign Het
Ppp6r3 A G 19: 3,528,285 (GRCm39) L542S probably damaging Het
Prkar2b A T 12: 32,037,973 (GRCm39) probably null Het
Psmg1 A T 16: 95,789,171 (GRCm39) S129T possibly damaging Het
Radil T C 5: 142,529,582 (GRCm39) D38G probably benign Het
Ric1 T C 19: 29,578,411 (GRCm39) probably null Het
Rp1l1 T A 14: 64,268,515 (GRCm39) L1367* probably null Het
Rxfp1 A T 3: 79,645,100 (GRCm39) M1K probably null Het
Serpina6 G T 12: 103,618,208 (GRCm39) L202I probably damaging Het
Simc1 T C 13: 54,676,280 (GRCm39) I98T probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Slc26a11 T A 11: 119,270,767 (GRCm39) probably benign Het
Slc34a1 T A 13: 55,550,711 (GRCm39) probably null Het
Slfn10-ps T A 11: 82,926,600 (GRCm39) noncoding transcript Het
Sohlh2 A G 3: 55,115,163 (GRCm39) N383D probably damaging Het
Spag6 T A 2: 18,715,302 (GRCm39) L27H probably damaging Het
Sptlc3 A G 2: 139,388,475 (GRCm39) probably benign Het
St3gal4 T A 9: 34,964,469 (GRCm39) K199* probably null Het
Stat5a T A 11: 100,772,909 (GRCm39) D712E probably benign Het
Stmn2 A T 3: 8,610,750 (GRCm39) D78V probably damaging Het
Stpg1 C T 4: 135,233,777 (GRCm39) P20S possibly damaging Het
Tbce T C 13: 14,172,747 (GRCm39) E501G probably benign Het
Tecpr2 A G 12: 110,935,374 (GRCm39) S1398G probably damaging Het
Tenm4 T A 7: 96,421,242 (GRCm39) Y598* probably null Het
Ticrr A G 7: 79,327,088 (GRCm39) S599G probably damaging Het
Tnc A C 4: 63,935,679 (GRCm39) V419G probably damaging Het
Trappc1 C A 11: 69,216,402 (GRCm39) P110T probably benign Het
Trbv12-2 C T 6: 41,095,993 (GRCm39) probably benign Het
Ttbk2 A T 2: 120,576,264 (GRCm39) N835K possibly damaging Het
Tubgcp5 A G 7: 55,450,432 (GRCm39) D181G probably damaging Het
Tut1 T C 19: 8,932,891 (GRCm39) Y75H possibly damaging Het
Ulk2 C A 11: 61,678,412 (GRCm39) C769F probably benign Het
Vdac1 T C 11: 52,265,800 (GRCm39) probably benign Het
Vmn2r124 T C 17: 18,284,486 (GRCm39) probably null Het
Vps8 T C 16: 21,426,977 (GRCm39) probably benign Het
Wdr35 T C 12: 9,045,625 (GRCm39) probably benign Het
Zdhhc7 T A 8: 120,813,386 (GRCm39) E141V probably null Het
Zfp12 C A 5: 143,230,978 (GRCm39) S435Y probably damaging Het
Zfp974 A T 7: 27,626,819 (GRCm39) probably benign Het
Zfyve9 T A 4: 108,538,166 (GRCm39) K1033N probably damaging Het
Zswim8 T A 14: 20,772,013 (GRCm39) S1572T possibly 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
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
R8832:Taf2 UTSW 15 54,928,001 (GRCm39) missense possibly damaging 0.86
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'- GTGCAAAGTGCAAGCAATCTTTTGGC -3'
(R):5'- CTCAACAACGTGAAACACTGTTTAGAGC -3'

Sequencing Primer
(F):5'- GAAGCACGCTGACATCCTG -3'
(R):5'- TGAAACACTGTTTAGAGCAGAGTC -3'
Posted On 2013-05-09