Incidental Mutation 'IGL02954:Taf1c'
ID365049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf1c
Ensembl Gene ENSMUSG00000031832
Gene NameTATA-box binding protein associated factor, RNA polymerase I, C
SynonymsmTAFI95
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.912) question?
Stock #IGL02954
Quality Score
Status
Chromosome8
Chromosomal Location119597871-119605222 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119600486 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 418 (Y418C)
Ref Sequence ENSEMBL: ENSMUSP00000090789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093099] [ENSMUST00000093100] [ENSMUST00000147964]
Predicted Effect probably damaging
Transcript: ENSMUST00000093099
AA Change: Y418C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: Y418C

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 probably benign
Transcript: ENSMUST00000147964
SMART Domains Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832

DomainStartEndE-ValueType
low complexity region 60 79 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212929
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G T 5: 8,732,341 R908L probably benign Het
Abcc9 T C 6: 142,646,281 N774S probably damaging Het
Alpk2 C T 18: 65,306,136 V729I probably benign Het
Atf3 T C 1: 191,171,655 N125D probably damaging Het
Bcat1 C T 6: 145,019,219 G215D probably damaging Het
Bptf G T 11: 107,054,749 Q2555K possibly damaging Het
Cthrc1 A G 15: 39,076,994 probably benign Het
Cyp2c38 A G 19: 39,391,076 M443T probably damaging Het
D6Wsu163e C T 6: 126,974,478 probably benign Het
Dgkg T A 16: 22,622,253 E3D probably benign Het
Dnah8 G T 17: 30,704,835 R1259L probably benign Het
Dnah9 A G 11: 66,118,967 L698P probably damaging Het
Ebag9 A C 15: 44,630,205 H141P probably benign Het
Emilin2 T C 17: 71,256,531 R840G probably benign Het
Faap100 A T 11: 120,372,131 H800Q probably damaging Het
Fh1 A T 1: 175,609,735 I266N probably damaging Het
Fkbp15 A G 4: 62,321,065 probably benign Het
Gm17334 A G 11: 53,772,828 probably benign Het
Gm5773 G T 3: 93,773,051 W10L probably benign Het
Gng13 T C 17: 25,718,752 Y18H probably damaging Het
Hivep3 T C 4: 120,133,641 S2113P probably damaging Het
Ift81 A T 5: 122,610,185 probably benign Het
Irak3 A C 10: 120,176,242 L206V probably damaging Het
Kcng4 C T 8: 119,633,053 A195T probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Nars2 T G 7: 97,039,893 probably null Het
Nol8 T C 13: 49,661,172 V234A probably benign Het
Olfr533 A T 7: 140,466,440 K80* probably null Het
Olfr99 T A 17: 37,280,304 N39Y probably damaging Het
Patz1 A G 11: 3,291,761 Y383C probably damaging Het
Pdcd5 T C 7: 35,643,664 Y152C probably damaging Het
Phkg1 A G 5: 129,866,069 W214R probably damaging Het
Plxna1 A G 6: 89,324,667 L1459P probably damaging Het
Pspc1 G A 14: 56,771,760 P206S probably benign Het
St7 A T 6: 17,848,031 N198I probably damaging Het
Supt3 A G 17: 45,038,128 D249G probably damaging Het
Tdrd6 A G 17: 43,627,262 V965A possibly damaging Het
Ugt2b35 A G 5: 87,011,321 N458S probably benign Het
Vmn1r8 A G 6: 57,036,330 Y122C probably benign Het
Other mutations in Taf1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Taf1c APN 8 119601328 missense possibly damaging 0.80
IGL01098:Taf1c APN 8 119602841 missense probably damaging 0.98
IGL01287:Taf1c APN 8 119601192 missense probably benign 0.01
IGL02339:Taf1c APN 8 119604280 missense probably damaging 1.00
IGL02642:Taf1c APN 8 119599057 missense probably benign
R0026:Taf1c UTSW 8 119604236 splice site probably null
R0031:Taf1c UTSW 8 119599090 missense probably benign 0.00
R0087:Taf1c UTSW 8 119600987 missense probably damaging 1.00
R0197:Taf1c UTSW 8 119599983 missense probably damaging 0.98
R0701:Taf1c UTSW 8 119599983 missense probably damaging 0.98
R0883:Taf1c UTSW 8 119599983 missense probably damaging 0.98
R2200:Taf1c UTSW 8 119598678 missense probably benign
R3726:Taf1c UTSW 8 119603070 missense probably damaging 1.00
R3765:Taf1c UTSW 8 119600485 nonsense probably null
R3916:Taf1c UTSW 8 119600505 missense probably damaging 1.00
R4368:Taf1c UTSW 8 119599316 missense possibly damaging 0.60
R4470:Taf1c UTSW 8 119599622 missense probably benign
R4501:Taf1c UTSW 8 119599429 missense probably damaging 1.00
R4661:Taf1c UTSW 8 119598850 missense probably damaging 0.99
R4741:Taf1c UTSW 8 119603395 unclassified probably benign
R4938:Taf1c UTSW 8 119598798 missense probably benign 0.26
R5481:Taf1c UTSW 8 119599240 missense probably damaging 1.00
R6335:Taf1c UTSW 8 119601779 missense probably damaging 1.00
R6517:Taf1c UTSW 8 119604247 missense possibly damaging 0.59
R7083:Taf1c UTSW 8 119600668 missense probably damaging 1.00
R7351:Taf1c UTSW 8 119599000 missense probably damaging 0.97
R8056:Taf1c UTSW 8 119603463 missense probably benign 0.13
Z1177:Taf1c UTSW 8 119598827 missense probably benign 0.00
Posted On2015-12-18