Incidental Mutation 'R0031:Taf1c'
ID 18640
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 038325-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R0031 (G1)
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 120324713-120331945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120325829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 678 (C678S)
Ref Sequence ENSEMBL: ENSMUSP00000090789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093099] [ENSMUST00000093100] [ENSMUST00000147964]
AlphaFold Q6PDZ2
Predicted Effect probably benign
Transcript: ENSMUST00000093099
AA Change: C678S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: C678S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000212929
Predicted Effect probably benign
Transcript: ENSMUST00000147964
SMART Domains Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832

DomainStartEndE-ValueType
low complexity region 60 79 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 G A 2: 69,115,652 (GRCm39) R571C probably damaging Het
Agr3 T C 12: 35,997,590 (GRCm39) M100T probably benign Het
Ankrd7 T A 6: 18,870,007 (GRCm39) Y253* probably null Het
Atp2c2 A T 8: 120,475,801 (GRCm39) T565S probably benign Het
Ccdc88b G T 19: 6,831,151 (GRCm39) S597Y possibly damaging Het
Celsr2 T C 3: 108,320,379 (GRCm39) N811S probably damaging Het
Cep170 A T 1: 176,583,657 (GRCm39) D907E probably damaging Het
Cip2a C T 16: 48,837,736 (GRCm39) S812F probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cmss1 T G 16: 57,131,612 (GRCm39) probably null Het
Cobl T C 11: 12,204,945 (GRCm39) T579A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csrp2 C T 10: 110,774,601 (GRCm39) S172L probably benign Het
Fip1l1 T C 5: 74,717,770 (GRCm39) S235P probably damaging Het
Gbgt1 T A 2: 28,388,462 (GRCm39) probably benign Het
Gml2 T C 15: 74,696,125 (GRCm39) I173T probably benign Het
Gucy2c T A 6: 136,674,997 (GRCm39) I1005F probably damaging Het
Irak3 T A 10: 120,012,225 (GRCm39) K88* probably null Het
Klc1 T C 12: 111,743,467 (GRCm39) Y265H probably damaging Het
Lamb1 G A 12: 31,351,155 (GRCm39) V754I probably benign Het
Lrguk A T 6: 34,020,431 (GRCm39) Q58H probably damaging Het
Lyst A G 13: 13,882,741 (GRCm39) D2902G probably benign Het
Mtpap T A 18: 4,383,244 (GRCm39) I207N probably damaging Het
Ncdn A T 4: 126,643,901 (GRCm39) probably null Het
Nup160 A G 2: 90,547,931 (GRCm39) probably null Het
Ormdl1 A G 1: 53,338,318 (GRCm39) probably benign Het
Pde5a A G 3: 122,596,704 (GRCm39) M432V probably benign Het
Pikfyve T A 1: 65,255,088 (GRCm39) probably benign Het
Plcb2 A G 2: 118,545,942 (GRCm39) V581A probably benign Het
Plpp6 T A 19: 28,942,243 (GRCm39) N281K probably benign Het
Pwp1 T C 10: 85,721,760 (GRCm39) I422T probably benign Het
Rims1 T C 1: 22,367,103 (GRCm39) N1199S probably damaging Het
Sema3c T C 5: 17,899,726 (GRCm39) L406P probably damaging Het
Senp6 C T 9: 80,033,525 (GRCm39) P84L probably damaging Het
Setx A G 2: 29,066,941 (GRCm39) I2361V probably benign Het
Slc25a12 C T 2: 71,163,958 (GRCm39) V106M possibly damaging Het
Slc3a1 A G 17: 85,340,274 (GRCm39) Y232C probably damaging Het
Spata31g1 A T 4: 42,973,712 (GRCm39) K1015M probably damaging Het
Tcp11l2 G T 10: 84,427,004 (GRCm39) C156F probably damaging Het
Tmem62 A G 2: 120,829,594 (GRCm39) T316A probably benign Het
Ulk4 A G 9: 121,102,048 (GRCm39) I10T probably damaging Het
Vps54 T C 11: 21,262,899 (GRCm39) I824T probably damaging Het
Wdfy3 A T 5: 102,037,161 (GRCm39) V2042E probably damaging Het
Wfdc6b A T 2: 164,455,779 (GRCm39) E36V probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T 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
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
R3765:Taf1c UTSW 8 120,327,224 (GRCm39) nonsense probably null
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
Posted On 2013-03-25