Incidental Mutation 'R0087:Taf1c'
ID 19956
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 038374-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 8
Chromosomal Location 120324713-120331945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120327726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 332 (R332H)
Ref Sequence ENSEMBL: ENSMUSP00000090789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093099] [ENSMUST00000093100] [ENSMUST00000147964]
AlphaFold Q6PDZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000093099
AA Change: R332H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: R332H

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 0.1676 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GAATGTCAACCATTTTCACACCCGTG -3'
(R):5'- CCTTAATCAGGGGCTCAGATTTCCAG -3'

Sequencing Primer
(F):5'- ACGGAAGGCAAGCGTCTC -3'
(R):5'- TGTGACTTCAGGTGGCAACC -3'
Posted On 2013-04-11