Incidental Mutation 'R0942:Taf15'
ID 82760
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 039081-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R0942 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83363912-83397569 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83389932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 40 (I40T)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021018]
AlphaFold Q8BQ46
Predicted Effect probably damaging
Transcript: ENSMUST00000021018
AA Change: I234T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: I234T

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 damaging
Transcript: ENSMUST00000133170
AA Change: I40T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119836
Gene: ENSMUSG00000020680
AA Change: I40T

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
Meta Mutation Damage Score 0.7010 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Acer3 T C 7: 97,906,949 (GRCm39) Y119C probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Brms1l T C 12: 55,912,742 (GRCm39) V245A probably benign Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dner T C 1: 84,563,030 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Erich3 T A 3: 154,444,788 (GRCm39) D518E probably benign Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Grb7 T C 11: 98,344,634 (GRCm39) Y346H probably damaging Het
Heg1 T C 16: 33,581,173 (GRCm39) L1192P probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Speer1e A T 5: 11,236,488 (GRCm39) T174S probably benign Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G 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
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
R9571:Taf15 UTSW 11 83,395,487 (GRCm39) nonsense probably null
X0028:Taf15 UTSW 11 83,378,222 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATGGGAAACCAGCAATTCTGCTTG -3'
(R):5'- GCCTACAGACTTTGGGAAGTACATGC -3'

Sequencing Primer
(F):5'- AGAGTAACCTGCACTTTACCTG -3'
(R):5'- CTTTGGGAAGTACATGCATTAAAGG -3'
Posted On 2013-11-08