Incidental Mutation 'IGL02339:Taf1c'
ID 289012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf1c
Ensembl Gene ENSMUSG00000031832
Gene Name TATA-box binding protein associated factor, RNA polymerase I, C
Synonyms mTAFI95
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02339
Quality Score
Status
Chromosome 8
Chromosomal Location 119597871-119605222 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119604280 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 33 (D33G)
Ref Sequence ENSEMBL: ENSMUSP00000090789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093099] [ENSMUST00000147964]
AlphaFold Q6PDZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000093099
AA Change: D33G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: D33G

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 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 damaging
Transcript: ENSMUST00000147964
AA Change: D33G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832
AA Change: D33G

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A G 2: 130,739,465 S546P probably damaging Het
Aass C A 6: 23,093,966 V119F probably damaging Het
Abcg5 T C 17: 84,673,604 I186V possibly damaging Het
B4gat1 G A 19: 5,039,418 E148K probably benign Het
Ccr6 A T 17: 8,256,253 T97S probably benign Het
Cd209f A C 8: 4,104,483 probably null Het
Chst1 T A 2: 92,613,577 D131E possibly damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah6 A G 6: 73,101,898 Y2361H probably benign Het
Dpp6 C T 5: 27,652,230 T333I probably damaging Het
Glt8d1 C A 14: 31,008,810 T91K probably damaging Het
Gm4952 G A 19: 12,626,911 R229Q probably damaging Het
Gm5117 T C 8: 31,738,226 noncoding transcript Het
Gp5 T C 16: 30,309,190 E222G probably damaging Het
Herc2 T A 7: 56,121,722 D1077E probably benign Het
Hfe T C 13: 23,704,390 E171G probably damaging Het
Hsp90b1 A G 10: 86,701,814 V209A probably damaging Het
Ktn1 A T 14: 47,683,378 probably benign Het
Med13 T C 11: 86,288,939 I1394M probably benign Het
Meioc T G 11: 102,668,448 S65R probably benign Het
Myof T C 19: 37,972,213 Y460C possibly damaging Het
Olfr1276 A T 2: 111,257,243 T43S probably benign Het
Pms1 A G 1: 53,275,165 Y74H possibly damaging Het
Ptprn2 A C 12: 116,722,104 Q61P probably damaging Het
Rab29 A G 1: 131,872,142 T152A probably benign Het
Rest A G 5: 77,275,288 H313R probably damaging Het
Slc9a5 T C 8: 105,358,459 Y531H probably damaging Het
St3gal3 T C 4: 117,958,562 T148A probably damaging Het
Stxbp5 C T 10: 9,816,297 V368I possibly damaging Het
Trim38 G A 13: 23,788,230 R178Q probably damaging Het
Uvssa A T 5: 33,414,849 K704N probably damaging Het
Vmn1r69 G A 7: 10,580,718 Q29* probably null Het
Ypel2 T C 11: 86,940,603 D119G possibly damaging 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
IGL02642:Taf1c APN 8 119599057 missense probably benign
IGL02954:Taf1c APN 8 119600486 missense probably damaging 1.00
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
R8170:Taf1c UTSW 8 119602826 splice site probably null
R8279:Taf1c UTSW 8 119599011 missense probably benign
R8382:Taf1c UTSW 8 119603050 missense probably damaging 1.00
R8492:Taf1c UTSW 8 119598717 missense probably benign 0.13
R9375:Taf1c UTSW 8 119598654 missense probably damaging 0.99
Z1177:Taf1c UTSW 8 119598827 missense probably benign 0.00
Posted On 2015-04-16