Incidental Mutation 'R3765:Taf1c'
ID 274654
Institutional Source Beutler Lab
Gene Symbol Taf1c
Ensembl Gene ENSMUSG00000031832
Gene Name TATA-box binding protein associated factor, RNA polymerase I, C
Synonyms mTAFI95
MMRRC Submission 040742-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R3765 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 120324713-120331945 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 120327224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 418 (Y418*)
Ref Sequence ENSEMBL: ENSMUSP00000090789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093099] [ENSMUST00000093100] [ENSMUST00000147964]
AlphaFold Q6PDZ2
Predicted Effect probably null
Transcript: ENSMUST00000093099
AA Change: Y418*
SMART Domains Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: Y418*

low complexity region 60 79 N/A INTRINSIC
SCOP:d1k32a3 253 389 2e-3 SMART
Blast:WD40 301 340 2e-15 BLAST
low complexity region 457 472 N/A INTRINSIC
low complexity region 478 490 N/A INTRINSIC
low complexity region 520 535 N/A INTRINSIC
low complexity region 724 732 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093100
SMART Domains Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831

Pfam:LRR_9 115 298 5.7e-10 PFAM
low complexity region 322 332 N/A INTRINSIC
low complexity region 482 501 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144379
Predicted Effect probably benign
Transcript: ENSMUST00000147964
SMART Domains Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832

low complexity region 60 79 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212929
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T C 7: 75,258,585 (GRCm39) V403A probably benign Het
Arid2 T C 15: 96,268,595 (GRCm39) S903P probably benign Het
Arl6ip6 T A 2: 53,082,243 (GRCm39) W37R probably damaging Het
Bag3 C T 7: 128,141,995 (GRCm39) T162I probably benign Het
C4b G A 17: 34,948,814 (GRCm39) P1545S probably damaging Het
Ccdc185 T A 1: 182,575,117 (GRCm39) H524L possibly damaging Het
Cfap43 T C 19: 47,824,014 (GRCm39) N119S probably benign Het
Churc1 C A 12: 76,820,057 (GRCm39) S22* probably null Het
Crbn T C 6: 106,771,987 (GRCm39) K106E possibly damaging Het
Dag1 C T 9: 108,085,398 (GRCm39) G581E probably damaging Het
Dpp4 T A 2: 62,216,780 (GRCm39) T92S probably benign Het
Fam135a T C 1: 24,094,958 (GRCm39) T137A possibly damaging Het
Fcsk A G 8: 111,613,736 (GRCm39) I775T probably benign Het
Fermt1 T C 2: 132,748,622 (GRCm39) D667G possibly damaging Het
Foxl2 T A 9: 98,838,039 (GRCm39) I109N probably damaging Het
Frk A G 10: 34,360,001 (GRCm39) M1V probably null Het
Gstm2 A G 3: 107,891,346 (GRCm39) F124S probably damaging Het
Hmcn1 T C 1: 150,620,776 (GRCm39) S1145G possibly damaging Het
Ints10 A G 8: 69,277,771 (GRCm39) T682A possibly damaging Het
Jmy T C 13: 93,601,219 (GRCm39) M396V possibly damaging Het
Ldb3 A T 14: 34,300,639 (GRCm39) probably null Het
Mre11a A G 9: 14,721,143 (GRCm39) N354S probably benign Het
Nbea A G 3: 55,912,970 (GRCm39) V939A probably damaging Het
Nphs1 T C 7: 30,170,635 (GRCm39) S928P probably damaging Het
Or5b109 G A 19: 13,211,795 (GRCm39) M60I probably damaging Het
Or7a40 A G 16: 16,491,179 (GRCm39) V222A probably benign Het
Or8g34 T A 9: 39,372,920 (GRCm39) Y61* probably null Het
Or9e1 T C 11: 58,732,120 (GRCm39) F60S probably damaging Het
Pla2g12b G A 10: 59,257,323 (GRCm39) V169M probably damaging Het
Polr1c C T 17: 46,558,850 (GRCm39) V14M probably damaging Het
Prg4 G A 1: 150,327,122 (GRCm39) S898L probably damaging Het
Prmt6 C A 3: 110,157,510 (GRCm39) E260* probably null Het
Ptx4 A G 17: 25,341,842 (GRCm39) T106A probably benign Het
Rab3il1 A G 19: 10,005,673 (GRCm39) T87A probably damaging Het
Sbf2 A G 7: 109,974,788 (GRCm39) V783A probably damaging Het
Scn2a A C 2: 65,513,054 (GRCm39) D209A possibly damaging Het
Setd2 T C 9: 110,423,314 (GRCm39) L345P probably damaging Het
Slc18b1 A G 10: 23,674,647 (GRCm39) D34G probably damaging Het
Slc9c1 A T 16: 45,411,244 (GRCm39) M934L possibly damaging Het
Slx4 A G 16: 3,798,850 (GRCm39) V1357A probably damaging Het
Spidr T C 16: 15,786,504 (GRCm39) E413G probably benign Het
Taar1 A G 10: 23,797,205 (GRCm39) Y301C probably damaging Het
Tada2b A T 5: 36,633,761 (GRCm39) D197E probably benign Het
Tanc2 A G 11: 105,805,796 (GRCm39) D394G probably damaging Het
Tnpo3 T C 6: 29,579,688 (GRCm39) D235G probably benign Het
Tns3 G A 11: 8,401,133 (GRCm39) A1055V probably benign Het
Wdfy3 A G 5: 102,009,266 (GRCm39) Y2767H probably damaging Het
Zfhx3 A G 8: 109,519,394 (GRCm39) N172S probably damaging Het
Zfp839 T C 12: 110,821,597 (GRCm39) V137A probably benign Het
Other mutations in Taf1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Taf1c APN 8 120,328,067 (GRCm39) missense possibly damaging 0.80
IGL01098:Taf1c APN 8 120,329,580 (GRCm39) missense probably damaging 0.98
IGL01287:Taf1c APN 8 120,327,931 (GRCm39) missense probably benign 0.01
IGL02339:Taf1c APN 8 120,331,019 (GRCm39) missense probably damaging 1.00
IGL02642:Taf1c APN 8 120,325,796 (GRCm39) missense probably benign
IGL02954:Taf1c APN 8 120,327,225 (GRCm39) missense probably damaging 1.00
R0026:Taf1c UTSW 8 120,330,975 (GRCm39) splice site probably null
R0031:Taf1c UTSW 8 120,325,829 (GRCm39) missense probably benign 0.00
R0087:Taf1c UTSW 8 120,327,726 (GRCm39) missense probably damaging 1.00
R0197:Taf1c UTSW 8 120,326,722 (GRCm39) missense probably damaging 0.98
R0701:Taf1c UTSW 8 120,326,722 (GRCm39) missense probably damaging 0.98
R0883:Taf1c UTSW 8 120,326,722 (GRCm39) missense probably damaging 0.98
R2200:Taf1c UTSW 8 120,325,417 (GRCm39) missense probably benign
R3726:Taf1c UTSW 8 120,329,809 (GRCm39) missense probably damaging 1.00
R3916:Taf1c UTSW 8 120,327,244 (GRCm39) missense probably damaging 1.00
R4368:Taf1c UTSW 8 120,326,055 (GRCm39) missense possibly damaging 0.60
R4470:Taf1c UTSW 8 120,326,361 (GRCm39) missense probably benign
R4501:Taf1c UTSW 8 120,326,168 (GRCm39) missense probably damaging 1.00
R4661:Taf1c UTSW 8 120,325,589 (GRCm39) missense probably damaging 0.99
R4741:Taf1c UTSW 8 120,330,134 (GRCm39) unclassified probably benign
R4938:Taf1c UTSW 8 120,325,537 (GRCm39) missense probably benign 0.26
R5481:Taf1c UTSW 8 120,325,979 (GRCm39) missense probably damaging 1.00
R6335:Taf1c UTSW 8 120,328,518 (GRCm39) missense probably damaging 1.00
R6517:Taf1c UTSW 8 120,330,986 (GRCm39) missense possibly damaging 0.59
R7083:Taf1c UTSW 8 120,327,407 (GRCm39) missense probably damaging 1.00
R7351:Taf1c UTSW 8 120,325,739 (GRCm39) missense probably damaging 0.97
R8056:Taf1c UTSW 8 120,330,202 (GRCm39) missense probably benign 0.13
R8170:Taf1c UTSW 8 120,329,565 (GRCm39) splice site probably null
R8279:Taf1c UTSW 8 120,325,750 (GRCm39) missense probably benign
R8382:Taf1c UTSW 8 120,329,789 (GRCm39) missense probably damaging 1.00
R8492:Taf1c UTSW 8 120,325,456 (GRCm39) missense probably benign 0.13
R9375:Taf1c UTSW 8 120,325,393 (GRCm39) missense probably damaging 0.99
Z1177:Taf1c UTSW 8 120,325,566 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-02