Incidental Mutation 'R9571:Taf15'
ID 722002
Institutional Source Beutler Lab
Gene Symbol Taf15
Ensembl Gene ENSMUSG00000020680
Gene Name TATA-box binding protein associated factor 15
Synonyms Taf2n, 68kDa, 2610111C21Rik, TAFII68
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R9571 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 83363912-83397569 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 83395487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 397 (Y397*)
Ref Sequence ENSEMBL: ENSMUSP00000021018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021018]
AlphaFold Q8BQ46
Predicted Effect probably null
Transcript: ENSMUST00000021018
AA Change: Y397*
SMART Domains Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: Y397*

DomainStartEndE-ValueType
low complexity region 4 30 N/A INTRINSIC
low complexity region 44 70 N/A INTRINSIC
low complexity region 72 90 N/A INTRINSIC
low complexity region 103 128 N/A INTRINSIC
low complexity region 139 150 N/A INTRINSIC
low complexity region 173 194 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
low complexity region 223 232 N/A INTRINSIC
RRM 233 314 1.34e-15 SMART
low complexity region 324 349 N/A INTRINSIC
ZnF_RBZ 354 380 1.62e-5 SMART
low complexity region 388 540 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000133170
AA Change: Y203*
SMART Domains Protein: ENSMUSP00000119836
Gene: ENSMUSG00000020680
AA Change: Y203*

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 30 39 N/A INTRINSIC
RRM 40 121 1.34e-15 SMART
low complexity region 131 156 N/A INTRINSIC
ZnF_RBZ 161 187 1.62e-5 SMART
low complexity region 195 312 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A G 2: 130,247,482 (GRCm39) D6G probably benign Het
Abl2 T G 1: 156,469,084 (GRCm39) S783A probably damaging Het
Adamtsl1 A T 4: 86,117,543 (GRCm39) T169S probably benign Het
Adcy9 A G 16: 4,141,653 (GRCm39) V621A probably benign Het
Ahnak2 T C 12: 112,742,510 (GRCm39) S521G possibly damaging Het
Ap2m1 G A 16: 20,360,037 (GRCm39) G213R probably damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Arl4d T C 11: 101,558,032 (GRCm39) M186T possibly damaging Het
Cep192 A G 18: 67,952,109 (GRCm39) D428G probably damaging Het
Ckap5 A C 2: 91,387,953 (GRCm39) D266A probably damaging Het
Crls1 A T 2: 132,691,793 (GRCm39) N106I probably damaging Het
Csmd3 T A 15: 48,655,398 (GRCm39) probably benign Het
Csnk1a1 A G 18: 61,704,969 (GRCm39) R161G possibly damaging Het
Cyp4f39 T A 17: 32,702,196 (GRCm39) I231N probably damaging Het
Ddx31 T A 2: 28,750,034 (GRCm39) V352D probably damaging Het
Dna2 A G 10: 62,800,740 (GRCm39) D758G probably damaging Het
Duxf4 G A 10: 58,071,378 (GRCm39) L279F possibly damaging Het
Gatad2a C A 8: 70,370,381 (GRCm39) A172S probably benign Het
Ghsr G T 3: 27,426,664 (GRCm39) R240L probably benign Het
Gli3 T A 13: 15,900,858 (GRCm39) M1415K probably benign Het
Glo1 G A 17: 30,816,835 (GRCm39) T107I possibly damaging Het
Gm10800 AAAGAAAACTGAA ACAAGAAAACTGAA 2: 98,497,378 (GRCm39) probably null Het
Gm17334 C T 11: 53,663,760 (GRCm39) V34M unknown Het
Habp4 T A 13: 64,322,615 (GRCm39) M228K probably benign Het
Hacl1 A G 14: 31,344,838 (GRCm39) V257A possibly damaging Het
Ift122 T G 6: 115,857,628 (GRCm39) S125A possibly damaging Het
Iqce C T 5: 140,651,862 (GRCm39) D704N possibly damaging Het
Jcad T A 18: 4,673,252 (GRCm39) L338* probably null Het
Kcnj13 T C 1: 87,316,849 (GRCm39) D88G probably damaging Het
Kif1b T C 4: 149,305,098 (GRCm39) D942G probably damaging Het
Marchf8 T A 6: 116,383,237 (GRCm39) S271T probably benign Het
Meis1 A G 11: 18,961,378 (GRCm39) L165S probably damaging Het
Morc2b T A 17: 33,355,178 (GRCm39) T865S probably benign Het
Morc3 T A 16: 93,641,107 (GRCm39) N46K possibly damaging Het
Mpzl1 C T 1: 165,429,374 (GRCm39) C219Y probably benign Het
Mup5 A G 4: 61,750,787 (GRCm39) probably null Het
Ninl A T 2: 150,791,803 (GRCm39) W907R probably benign Het
Nol6 A T 4: 41,120,156 (GRCm39) S491T probably benign Het
Or4f53 A T 2: 111,088,083 (GRCm39) I208F probably benign Het
Or51g1 A G 7: 102,634,221 (GRCm39) V50A probably benign Het
Or5b121 T A 19: 13,507,697 (GRCm39) I264N probably damaging Het
Or6c205 C A 10: 129,087,182 (GRCm39) P260T possibly damaging Het
Osbpl6 T A 2: 76,425,191 (GRCm39) M919K probably benign Het
Otogl A T 10: 107,598,364 (GRCm39) V2262E possibly damaging Het
Pcbp2 A G 15: 102,383,113 (GRCm39) D77G possibly damaging Het
Pcsk7 G A 9: 45,820,907 (GRCm39) R113Q possibly damaging Het
Pds5b T C 5: 150,645,971 (GRCm39) I143T probably damaging Het
Polr2m T C 9: 71,386,710 (GRCm39) E357G possibly damaging Het
Prox2 G A 12: 85,141,766 (GRCm39) Q146* probably null Het
Ptprt A G 2: 161,395,732 (GRCm39) V1167A probably benign Het
Rbm11 G A 16: 75,397,543 (GRCm39) E158K possibly damaging Het
Sall2 A T 14: 52,551,830 (GRCm39) V455E probably damaging Het
Sar1b T A 11: 51,680,064 (GRCm39) L130Q probably damaging Het
Slc35f6 A G 5: 30,815,180 (GRCm39) N369S possibly damaging Het
Slc39a12 A T 2: 14,412,380 (GRCm39) M351L probably benign Het
Tmprss11e A T 5: 86,875,149 (GRCm39) V39D probably damaging Het
Trim71 T C 9: 114,342,359 (GRCm39) D641G probably damaging Het
Trpc3 T A 3: 36,694,909 (GRCm39) T682S probably damaging Het
Tsen54 T C 11: 115,707,933 (GRCm39) probably null Het
Usp6nl A G 2: 6,445,960 (GRCm39) N646D possibly damaging Het
Vip T C 10: 5,590,661 (GRCm39) F12L probably benign Het
Vmn1r39 A T 6: 66,781,572 (GRCm39) F249I probably benign Het
Vmn2r106 A T 17: 20,505,641 (GRCm39) S18T probably benign Het
Vmn2r97 G T 17: 19,149,919 (GRCm39) V436L probably benign Het
Washc2 T C 6: 116,237,631 (GRCm39) probably null Het
Ykt6 T C 11: 5,914,613 (GRCm39) V171A possibly damaging Het
Zfp658 A G 7: 43,222,139 (GRCm39) D138G possibly damaging Het
Other mutations in Taf15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Taf15 APN 11 83,379,749 (GRCm39) critical splice acceptor site probably null
IGL01151:Taf15 APN 11 83,378,197 (GRCm39) missense possibly damaging 0.93
R0942:Taf15 UTSW 11 83,389,932 (GRCm39) missense probably damaging 1.00
R1530:Taf15 UTSW 11 83,378,122 (GRCm39) missense possibly damaging 0.86
R2267:Taf15 UTSW 11 83,388,088 (GRCm39) missense probably damaging 0.98
R2437:Taf15 UTSW 11 83,395,579 (GRCm39) intron probably benign
R3123:Taf15 UTSW 11 83,395,154 (GRCm39) critical splice donor site probably null
R3155:Taf15 UTSW 11 83,393,599 (GRCm39) missense probably benign 0.03
R3784:Taf15 UTSW 11 83,397,248 (GRCm39) missense unknown
R4491:Taf15 UTSW 11 83,375,520 (GRCm39) missense probably benign 0.08
R4951:Taf15 UTSW 11 83,375,637 (GRCm39) missense possibly damaging 0.64
R5104:Taf15 UTSW 11 83,378,222 (GRCm39) missense probably damaging 1.00
R6814:Taf15 UTSW 11 83,389,915 (GRCm39) missense probably damaging 1.00
R6987:Taf15 UTSW 11 83,375,521 (GRCm39) missense possibly damaging 0.48
R7328:Taf15 UTSW 11 83,375,658 (GRCm39) missense possibly damaging 0.96
R7431:Taf15 UTSW 11 83,395,779 (GRCm39) missense unknown
R7624:Taf15 UTSW 11 83,395,849 (GRCm39) missense unknown
R8432:Taf15 UTSW 11 83,395,851 (GRCm39) small deletion probably benign
R8523:Taf15 UTSW 11 83,375,678 (GRCm39) nonsense probably null
R8725:Taf15 UTSW 11 83,389,964 (GRCm39) missense probably benign 0.26
R9127:Taf15 UTSW 11 83,395,085 (GRCm39) nonsense probably null
X0028:Taf15 UTSW 11 83,378,222 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTTGCTCGAAGAAACTCCTG -3'
(R):5'- GGTCTCCTCCATAGCTGCCT -3'

Sequencing Primer
(F):5'- CCTGTAATCAGTGCAATGAGCCTAG -3'
(R):5'- CCATAGCTGCCTCCTCGG -3'
Posted On 2022-08-09