Incidental Mutation 'R0423:Taf2'
ID 38606
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 038625-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0423 (G1)
Quality Score 149
Status Validated
Chromosome 15
Chromosomal Location 54878527-54935548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54928078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 108 (N108K)
Ref Sequence ENSEMBL: ENSMUSP00000043733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041733]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041733
AA Change: N108K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: N108K

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
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.9%
Validation Efficiency 99% (84/85)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,261,825 (GRCm39) noncoding transcript Het
A630001G21Rik A G 1: 85,654,187 (GRCm39) I50T probably benign Het
Abhd12 T C 2: 150,680,312 (GRCm39) T264A possibly damaging Het
Acsm3 T C 7: 119,376,382 (GRCm39) Y370H probably damaging Het
Ank2 G T 3: 126,723,509 (GRCm39) Y3789* probably null Het
Anxa4 C T 6: 86,737,719 (GRCm39) A1T probably damaging Het
Apba1 T A 19: 23,922,362 (GRCm39) V810D probably damaging Het
Bank1 A G 3: 135,989,778 (GRCm39) I104T possibly damaging Het
Birc6 T C 17: 75,003,292 (GRCm39) Y4721H probably damaging Het
Bmpr2 A G 1: 59,907,669 (GRCm39) T921A probably benign Het
Ccdc102a A C 8: 95,632,554 (GRCm39) probably benign Het
Ccdc141 C A 2: 76,869,794 (GRCm39) D904Y probably damaging Het
Ccdc96 A G 5: 36,642,591 (GRCm39) K199R probably benign Het
Cdh10 G A 15: 18,986,965 (GRCm39) V399I probably benign Het
Cenpk A G 13: 104,370,733 (GRCm39) T85A probably benign Het
Col6a2 A C 10: 76,450,751 (GRCm39) V60G possibly damaging Het
Cops7b A G 1: 86,526,753 (GRCm39) D119G probably benign Het
Cstf2t A G 19: 31,061,676 (GRCm39) E404G possibly damaging Het
Ctnna2 A T 6: 77,630,052 (GRCm39) V134E probably damaging Het
Cwh43 A C 5: 73,574,085 (GRCm39) M250L probably benign Het
Daam2 T A 17: 49,776,449 (GRCm39) K813* probably null Het
Dhcr24 G A 4: 106,443,733 (GRCm39) probably benign Het
Dnah8 G T 17: 30,920,955 (GRCm39) R1182L probably benign Het
Doc2a C T 7: 126,447,830 (GRCm39) P25S probably damaging Het
Dst A G 1: 34,317,116 (GRCm39) S6823G possibly damaging Het
Espl1 T A 15: 102,212,421 (GRCm39) L509* probably null Het
Fbxw19 C T 9: 109,315,134 (GRCm39) V143I probably benign Het
Fbxw5 A G 2: 25,394,538 (GRCm39) T171A possibly damaging Het
Gfra2 C T 14: 71,133,521 (GRCm39) T117M probably damaging Het
Gm454 T A 5: 138,202,403 (GRCm39) noncoding transcript Het
Ilrun A C 17: 28,005,207 (GRCm39) Y117D probably damaging Het
Kcnq4 A G 4: 120,574,705 (GRCm39) S120P probably damaging Het
Krt84 A T 15: 101,437,155 (GRCm39) L336Q probably damaging Het
Lilra6 T A 7: 3,917,774 (GRCm39) probably benign Het
Mbnl2 G A 14: 120,562,736 (GRCm39) R29H probably damaging Het
Mcm3ap G A 10: 76,338,539 (GRCm39) G1389D probably benign Het
Mettl13 A T 1: 162,371,954 (GRCm39) I305N probably damaging Het
Muc6 A G 7: 141,238,548 (GRCm39) S30P probably benign Het
Myh7 T A 14: 55,216,646 (GRCm39) Q1237L probably benign Het
Myo9a T G 9: 59,802,619 (GRCm39) D2035E probably damaging Het
Nat10 A G 2: 103,578,572 (GRCm39) S211P probably damaging Het
Ntm T C 9: 29,090,395 (GRCm39) Y108C probably damaging Het
Or14c39 T C 7: 86,344,434 (GRCm39) Y257H possibly damaging Het
Or7g25 A T 9: 19,160,248 (GRCm39) L149* probably null Het
Pcdhb16 A G 18: 37,613,422 (GRCm39) D794G probably benign Het
Phlpp1 A G 1: 106,267,345 (GRCm39) T753A probably benign Het
Pierce1 T C 2: 28,356,036 (GRCm39) probably benign Het
Pnldc1 T C 17: 13,108,963 (GRCm39) Q511R possibly damaging Het
Ppip5k2 A G 1: 97,689,152 (GRCm39) S38P possibly damaging Het
Pygb A G 2: 150,665,904 (GRCm39) K593E probably benign Het
Rangap1 A T 15: 81,589,664 (GRCm39) F564I probably damaging Het
Rictor A T 15: 6,803,381 (GRCm39) I498F possibly damaging Het
Rnase12 A T 14: 51,294,613 (GRCm39) V22D probably benign Het
Rpl7l1 T A 17: 47,091,324 (GRCm39) M93L probably benign Het
Smg1 T C 7: 117,776,103 (GRCm39) R1396G possibly damaging Het
Snx19 C A 9: 30,347,133 (GRCm39) T692N probably damaging Het
Spag6 A G 2: 18,715,404 (GRCm39) D61G probably benign Het
Spen T A 4: 141,206,647 (GRCm39) N660I unknown Het
Sptan1 T G 2: 29,918,684 (GRCm39) C2246G probably null Het
Svopl A G 6: 38,013,642 (GRCm39) probably benign Het
Thbs4 T C 13: 92,893,079 (GRCm39) D703G probably damaging Het
Tle6 G T 10: 81,434,457 (GRCm39) N47K possibly damaging Het
Usp48 G T 4: 137,343,722 (GRCm39) V452L probably benign Het
Ust A T 10: 8,173,912 (GRCm39) S198T probably damaging Het
Wnk2 T A 13: 49,248,894 (GRCm39) M386L possibly damaging Het
Ywhaq T C 12: 21,441,382 (GRCm39) probably benign Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp316 A G 5: 143,238,993 (GRCm39) S1009P probably damaging Het
Zfp963 A G 8: 70,197,156 (GRCm39) Y29H probably damaging Het
Zmym4 A G 4: 126,776,112 (GRCm39) probably benign Het
Zranb3 A G 1: 128,019,607 (GRCm39) I45T 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
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'- AATCCAGGACCCATTTAGCAAGGC -3'
(R):5'- TGGCATTTCAGAGCTAATGAAGGACG -3'

Sequencing Primer
(F):5'- AGCAAGGCTTATTTCACGGTAG -3'
(R):5'- ctccctccctccctccc -3'
Posted On 2013-05-23