Incidental Mutation 'R5517:Taf1a'
ID 431322
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 043076-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R5517 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 183170325-183191020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 183177323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 67 (L67R)
Ref Sequence ENSEMBL: ENSMUSP00000142213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097043] [ENSMUST00000192076]
AlphaFold P97357
Predicted Effect probably damaging
Transcript: ENSMUST00000097043
AA Change: L67R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094808
Gene: ENSMUSG00000072258
AA Change: L67R

DomainStartEndE-ValueType
Pfam:TAF1_subA 9 291 1.6e-72 PFAM
Pfam:TAF1_subA 321 446 3e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192076
AA Change: L67R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142213
Gene: ENSMUSG00000072258
AA Change: L67R

DomainStartEndE-ValueType
Pfam:TAF1_subA 9 296 8.4e-70 PFAM
Pfam:TAF1_subA 328 360 1.3e-6 PFAM
Meta Mutation Damage Score 0.8176 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.2%
  • 20x: 90.5%
Validation Efficiency 99% (67/68)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,269,233 (GRCm39) R675K possibly damaging Het
Aire A T 10: 77,875,525 (GRCm39) S282T probably benign Het
Ak9 A G 10: 41,216,887 (GRCm39) E283G probably benign Het
Akap9 T A 5: 4,051,665 (GRCm39) D1477E possibly damaging Het
Ap2a1 T C 7: 44,556,405 (GRCm39) D273G possibly damaging Het
Apob T C 12: 8,040,906 (GRCm39) L664P probably damaging Het
Arhgap35 A T 7: 16,297,414 (GRCm39) F550L probably damaging Het
Armc2 T C 10: 41,839,846 (GRCm39) E373G probably benign Het
Atp8b2 C A 3: 89,853,338 (GRCm39) A726S probably benign Het
C030048H21Rik T A 2: 26,145,899 (GRCm39) Q87L probably damaging Het
Cd244a T A 1: 171,405,542 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,326 (GRCm39) probably null Het
Cenpe C A 3: 134,929,026 (GRCm39) P310Q probably damaging Het
Chuk T A 19: 44,085,972 (GRCm39) probably null Het
Crebl2 T C 6: 134,828,139 (GRCm39) S104P probably benign Het
Ddo A G 10: 40,523,726 (GRCm39) K239E probably benign Het
Defb5 A G 8: 19,300,868 (GRCm39) probably null Het
Dhx35 T A 2: 158,676,832 (GRCm39) M422K probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gatm G A 2: 122,426,024 (GRCm39) T409I probably damaging Het
Gdpd1 A T 11: 86,950,332 (GRCm39) D80E probably damaging Het
Gspt1 C A 16: 11,071,843 (GRCm39) G7C unknown Het
Hells G A 19: 38,943,244 (GRCm39) S516N probably benign Het
Ints1 A G 5: 139,738,542 (GRCm39) S2069P possibly damaging Het
Kank4 G A 4: 98,663,118 (GRCm39) T690M probably damaging Het
Kcnq4 T C 4: 120,573,006 (GRCm39) N265S possibly damaging Het
Kif5b C A 18: 6,220,954 (GRCm39) A385S probably benign Het
Map2 T C 1: 66,454,415 (GRCm39) S1102P probably benign Het
Mcm7 A G 5: 138,163,133 (GRCm39) S340P possibly damaging Het
Mcrs1 C T 15: 99,144,876 (GRCm39) R246H possibly damaging Het
Myo16 T A 8: 10,610,226 (GRCm39) M1189K probably benign Het
Or4d2 A T 11: 87,783,892 (GRCm39) I286N probably damaging Het
Or4k52 G T 2: 111,610,804 (GRCm39) M46I probably benign Het
Or7g29 G A 9: 19,287,063 (GRCm39) T38I probably damaging Het
Otog A G 7: 45,923,995 (GRCm39) N1118S probably damaging Het
Pakap T C 4: 57,855,987 (GRCm39) Y439H probably damaging Het
Pcdhb7 G T 18: 37,474,846 (GRCm39) probably benign Het
Picalm C T 7: 89,819,806 (GRCm39) T189I possibly damaging Het
Ptx4 T A 17: 25,343,760 (GRCm39) S337T possibly damaging Het
Rad51ap2 C T 12: 11,508,313 (GRCm39) S745L probably benign Het
Rspry1 G A 8: 95,363,388 (GRCm39) probably null Het
Scn5a T G 9: 119,324,779 (GRCm39) I1350L probably damaging Het
Sgk2 T C 2: 162,839,755 (GRCm39) L121P probably damaging Het
Slc17a1 A T 13: 24,056,575 (GRCm39) probably benign Het
Slc6a12 A G 6: 121,331,298 (GRCm39) N183S probably benign Het
Smg9 C A 7: 24,114,338 (GRCm39) probably benign Het
Spred1 G A 2: 117,008,195 (GRCm39) S367N probably damaging Het
Srpra T C 9: 35,122,646 (GRCm39) V21A probably benign Het
Taar2 A T 10: 23,816,627 (GRCm39) I56F possibly damaging Het
Tbc1d10b C A 7: 126,797,779 (GRCm39) R787S possibly damaging Het
Topbp1 T A 9: 103,213,313 (GRCm39) N1044K probably benign Het
Usp24 A G 4: 106,232,871 (GRCm39) T886A probably benign Het
Vmn2r26 A G 6: 124,027,676 (GRCm39) D472G probably damaging Het
Zyg11a T C 4: 108,061,943 (GRCm39) N286S possibly damaging 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
R5799:Taf1a UTSW 1 183,177,272 (GRCm39) missense possibly damaging 0.85
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'- TAAGTCAGTGGGCCTGGTAC -3'
(R):5'- TTTTAGACAGCAGGACATCAGG -3'

Sequencing Primer
(F):5'- CCTGGTACTGGGGAAGGCTAG -3'
(R):5'- TGGTATCATCCTAGTACCCAGGAAG -3'
Posted On 2016-10-05