Incidental Mutation 'R3883:Taf1a'
ID 308803
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 040796-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R3883 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 183170325-183191020 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 183172288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 10 (T10S)
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: T10S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000094808
Gene: ENSMUSG00000072258
AA Change: T10S

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: T10S

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142213
Gene: ENSMUSG00000072258
AA Change: T10S

DomainStartEndE-ValueType
Pfam:TAF1_subA 9 296 8.4e-70 PFAM
Pfam:TAF1_subA 328 360 1.3e-6 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (45/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 C T 8: 46,980,228 (GRCm39) S423L probably benign Het
Ankmy1 T G 1: 92,813,874 (GRCm39) E435A probably damaging Het
Ano5 T A 7: 51,216,052 (GRCm39) M343K probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
C3 T C 17: 57,524,173 (GRCm39) probably null Het
Cdk17 T C 10: 93,047,939 (GRCm39) probably null Het
Cntn2 A G 1: 132,456,677 (GRCm39) V123A probably damaging Het
Cracd T A 5: 77,004,421 (GRCm39) W261R unknown Het
Dchs1 A G 7: 105,411,770 (GRCm39) Y1449H probably damaging Het
Ddx42 T A 11: 106,138,518 (GRCm39) N772K probably benign Het
Dnah11 T C 12: 117,942,188 (GRCm39) probably benign Het
Edn1 T A 13: 42,455,382 (GRCm39) F4L probably benign Het
Epb41l3 C T 17: 69,581,111 (GRCm39) R552* probably null Het
Epc1 T C 18: 6,452,258 (GRCm39) D267G possibly damaging Het
Fbxo22 A T 9: 55,130,546 (GRCm39) T169S probably benign Het
Fmnl1 A G 11: 103,072,940 (GRCm39) N144D probably damaging Het
Folh1 A G 7: 86,424,864 (GRCm39) L35P possibly damaging Het
Gm10220 A C 5: 26,321,908 (GRCm39) S255A possibly damaging Het
Gm15446 G T 5: 110,088,313 (GRCm39) V9L probably damaging Het
Hipk2 A G 6: 38,676,200 (GRCm39) L1011P probably damaging Het
Kif4-ps G T 12: 101,112,473 (GRCm39) V201L probably damaging Het
Klk1b16 T C 7: 43,788,887 (GRCm39) V40A possibly damaging Het
Lgsn C A 1: 31,215,540 (GRCm39) D3E probably benign Het
Mavs T C 2: 131,087,218 (GRCm39) S239P probably benign Het
Mrtfb T A 16: 13,219,322 (GRCm39) V667D probably damaging Het
Mtrf1 A G 14: 79,656,707 (GRCm39) Y403C probably damaging Het
Mycbp2 A C 14: 103,532,686 (GRCm39) L390V probably damaging Het
Neto2 A G 8: 86,389,894 (GRCm39) S190P probably damaging Het
Ngly1 A G 14: 16,270,574 (GRCm38) I195V probably damaging Het
Or10d4c A G 9: 39,558,420 (GRCm39) I133V probably benign Het
Or13p5 T C 4: 118,591,882 (GRCm39) I52T probably benign Het
Pde4dip T C 3: 97,620,504 (GRCm39) K1632E probably damaging Het
Pigk T C 3: 152,419,832 (GRCm39) S21P probably benign Het
Rabggtb A G 3: 153,616,417 (GRCm39) F82L probably damaging Het
Reep6 G A 10: 80,171,369 (GRCm39) R415Q probably benign Het
Serpinb13 T C 1: 106,926,302 (GRCm39) V159A probably benign Het
Slc5a8 T A 10: 88,738,325 (GRCm39) M196K possibly damaging Het
Sprr1a G A 3: 92,391,827 (GRCm39) P58L probably damaging Het
Tap1 T A 17: 34,412,232 (GRCm39) V479E probably damaging Het
Trpm4 C T 7: 44,971,422 (GRCm39) probably null Het
Ush2a T C 1: 187,995,579 (GRCm39) Y117H probably benign Het
Vmn2r58 A T 7: 41,513,914 (GRCm39) L243* probably null Het
Zbtb32 A G 7: 30,290,569 (GRCm39) I242T probably benign Het
Zbtb7a T C 10: 80,983,859 (GRCm39) C434R probably 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
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
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'- GGAACTTTAGTTTCACCTGTTGCC -3'
(R):5'- AGCTTCAACGCTGTCTCAC -3'

Sequencing Primer
(F):5'- GTTGCCGACCTAAACAGATTG -3'
(R):5'- GCTGTCTCACTCACCCACAG -3'
Posted On 2015-04-17