Incidental Mutation 'R5799:Taf1a'
ID 447380
Institutional Source Beutler Lab
Gene Symbol Taf1a
Ensembl Gene ENSMUSG00000072258
Gene Name TATA-box binding protein associated factor, RNA polymerase I, A
Synonyms mTAFI48
MMRRC Submission 043388-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R5799 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 183170325-183191020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 183177272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 50 (D50G)
Ref Sequence ENSEMBL: ENSMUSP00000094808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097043] [ENSMUST00000192076]
AlphaFold P97357
Predicted Effect possibly damaging
Transcript: ENSMUST00000097043
AA Change: D50G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000094808
Gene: ENSMUSG00000072258
AA Change: D50G

DomainStartEndE-ValueType
Pfam:TAF1_subA 9 291 1.6e-72 PFAM
Pfam:TAF1_subA 321 446 3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192076
AA Change: D50G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142213
Gene: ENSMUSG00000072258
AA Change: D50G

DomainStartEndE-ValueType
Pfam:TAF1_subA 9 296 8.4e-70 PFAM
Pfam:TAF1_subA 328 360 1.3e-6 PFAM
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 89% (51/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,668,908 (GRCm39) Q92* probably null Het
Accsl T C 2: 93,694,748 (GRCm39) probably null Het
Ahnak2 T C 12: 112,745,365 (GRCm39) probably benign Het
Alcam T C 16: 52,130,212 (GRCm39) D46G probably benign Het
Asap2 T C 12: 21,218,247 (GRCm39) S57P probably damaging Het
Atg14 A T 14: 47,784,752 (GRCm39) V314D possibly damaging Het
C230029F24Rik C T 1: 49,377,307 (GRCm39) noncoding transcript Het
Calcr A T 6: 3,707,592 (GRCm39) I236N probably benign Het
Cass4 G A 2: 172,258,107 (GRCm39) G35E probably damaging Het
Chmp6 T C 11: 119,807,517 (GRCm39) I120T probably benign Het
Col13a1 A G 10: 61,684,919 (GRCm39) probably benign Het
Cstdc4 T A 16: 36,004,631 (GRCm39) M1K probably null Het
Ddhd2 T A 8: 26,238,629 (GRCm39) L328F probably damaging Het
Defa40 T A 8: 21,740,359 (GRCm39) probably null Het
Dnmt3l A G 10: 77,887,860 (GRCm39) D123G possibly damaging Het
Eea1 T A 10: 95,838,810 (GRCm39) V287E possibly damaging Het
Efcc1 A G 6: 87,708,164 (GRCm39) N97S probably benign Het
Exd1 A G 2: 119,369,262 (GRCm39) S118P probably benign Het
Ext2 G T 2: 93,642,317 (GRCm39) T184K probably benign Het
Fam186a G A 15: 99,864,705 (GRCm39) Q42* probably null Het
Gbp2 A T 3: 142,337,843 (GRCm39) I320L probably benign Het
Gramd2a G A 9: 59,615,299 (GRCm39) G13R probably benign Het
H2-Q5 T C 17: 35,613,115 (GRCm39) M5T unknown Het
Jak3 C T 8: 72,131,344 (GRCm39) L70F probably damaging Het
Lhpp G A 7: 132,307,364 (GRCm39) V254M probably damaging Het
Lig1 T A 7: 13,030,184 (GRCm39) V387E possibly damaging Het
Lipo3 T C 19: 33,755,093 (GRCm39) probably benign Het
Lrrc8b C T 5: 105,629,208 (GRCm39) S518L probably benign Het
Narf T C 11: 121,135,480 (GRCm39) Y111H probably damaging Het
Ncf4 A G 15: 78,135,177 (GRCm39) K78R probably benign Het
Nrap A T 19: 56,330,601 (GRCm39) C1118* probably null Het
Nubp2 A G 17: 25,104,772 (GRCm39) V23A probably damaging Het
Or4l1 A T 14: 50,166,497 (GRCm39) F168Y probably damaging Het
Or6c219 A T 10: 129,781,780 (GRCm39) D50E possibly damaging Het
Or8g55 T C 9: 39,785,392 (GRCm39) S274P possibly damaging Het
Pdzd7 G A 19: 45,025,428 (GRCm39) P356S probably benign Het
Rttn T C 18: 89,056,070 (GRCm39) V984A probably damaging Het
Ryr3 A G 2: 112,516,925 (GRCm39) S3334P probably damaging Het
Senp7 G A 16: 55,959,468 (GRCm39) probably null Het
Slc25a3 A C 10: 90,957,903 (GRCm39) Y50D probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A T 15: 96,592,970 (GRCm39) S163T probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stam2 A T 2: 52,610,922 (GRCm39) C4* probably null Het
Taf6l A T 19: 8,759,995 (GRCm39) Y106N possibly damaging Het
Taf7l2 T C 10: 115,948,674 (GRCm39) E284G probably damaging Het
Tbx20 G A 9: 24,636,816 (GRCm39) Q424* probably null Het
Tex10 A G 4: 48,433,295 (GRCm39) V829A possibly damaging Het
Tgfbr3 T C 5: 107,257,474 (GRCm39) probably benign Het
Tnfsf10 G T 3: 27,389,742 (GRCm39) V268F probably damaging Het
Trrap A G 5: 144,767,755 (GRCm39) T2571A probably benign Het
Other mutations in Taf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1257:Taf1a UTSW 1 183,179,175 (GRCm39) missense possibly damaging 0.71
R2484:Taf1a UTSW 1 183,177,422 (GRCm39) splice site probably benign
R2878:Taf1a UTSW 1 183,179,173 (GRCm39) missense probably damaging 0.97
R3883:Taf1a UTSW 1 183,172,288 (GRCm39) missense possibly damaging 0.53
R4619:Taf1a UTSW 1 183,181,752 (GRCm39) splice site probably benign
R5029:Taf1a UTSW 1 183,177,273 (GRCm39) missense possibly damaging 0.70
R5517:Taf1a UTSW 1 183,177,323 (GRCm39) missense probably damaging 1.00
R7392:Taf1a UTSW 1 183,190,095 (GRCm39) missense
R7635:Taf1a UTSW 1 183,189,253 (GRCm39) critical splice donor site probably null
R7707:Taf1a UTSW 1 183,185,583 (GRCm39) missense possibly damaging 0.93
R9233:Taf1a UTSW 1 183,181,878 (GRCm39) missense possibly damaging 0.52
RF056:Taf1a UTSW 1 183,172,369 (GRCm39) critical splice donor site probably benign
Z1088:Taf1a UTSW 1 183,185,614 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGGGTTGGGAGGCCTAAAAC -3'
(R):5'- TTTAGACAGCAGGACATCAGG -3'

Sequencing Primer
(F):5'- GAGGCCTAAAACCAACACTGTGTG -3'
(R):5'- TGGTATCATCCTAGTACCCAGGAAG -3'
Posted On 2016-12-15