Incidental Mutation 'IGL02305:Taf1b'
ID 287550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf1b
Ensembl Gene ENSMUSG00000059669
Gene Name TATA-box binding protein associated factor, RNA polymerase I, B
Synonyms 4930408G01Rik, p63, A230108M10Rik, mTAFI68
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # IGL02305
Quality Score
Status
Chromosome 12
Chromosomal Location 24548580-24608570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24594270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 268 (S268P)
Ref Sequence ENSEMBL: ENSMUSP00000075339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075954] [ENSMUST00000221372]
AlphaFold P97358
Predicted Effect possibly damaging
Transcript: ENSMUST00000075954
AA Change: S268P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: S268P

DomainStartEndE-ValueType
Pfam:RRN7 3 39 7.3e-15 PFAM
low complexity region 141 153 N/A INTRINSIC
low complexity region 361 374 N/A INTRINSIC
low complexity region 411 425 N/A INTRINSIC
low complexity region 574 583 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223503
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 one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,921,048 (GRCm39) T599I probably damaging Het
Ahi1 A G 10: 20,846,796 (GRCm39) T409A probably benign Het
Apol10b T A 15: 77,469,630 (GRCm39) R182S possibly damaging Het
Arhgap35 A G 7: 16,297,590 (GRCm39) F492L probably benign Het
Ccdc136 A G 6: 29,406,173 (GRCm39) D173G probably damaging Het
Ccndbp1 T C 2: 120,841,933 (GRCm39) L67P probably damaging Het
Dync2h1 C T 9: 7,122,678 (GRCm39) V2093I probably benign Het
Eps15l1 T C 8: 73,140,853 (GRCm39) K213R probably null Het
Fat4 A T 3: 39,064,137 (GRCm39) N4698Y probably damaging Het
Frmpd1 G T 4: 45,249,209 (GRCm39) R133L probably damaging Het
Gdi2 T A 13: 3,606,428 (GRCm39) M158K probably damaging Het
Hoxc8 A G 15: 102,901,025 (GRCm39) Y156C probably damaging Het
Iho1 A T 9: 108,283,031 (GRCm39) M219K possibly damaging Het
Kcnh2 T C 5: 24,527,658 (GRCm39) D898G possibly damaging Het
Kng2 T C 16: 22,819,374 (GRCm39) probably benign Het
Men1 T C 19: 6,390,168 (GRCm39) L566P probably damaging Het
Mtmr2 T C 9: 13,706,551 (GRCm39) W153R probably damaging Het
Mug2 T G 6: 122,013,015 (GRCm39) L309R probably benign Het
Myo7a A G 7: 97,700,836 (GRCm39) *2165R probably null Het
Ogfod2 T C 5: 124,250,910 (GRCm39) probably null Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Or8g20 A T 9: 39,396,333 (GRCm39) I72N probably damaging Het
Pard6g T C 18: 80,160,985 (GRCm39) L366P probably damaging Het
Pdlim4 A T 11: 53,946,759 (GRCm39) L117H probably damaging Het
Pkd1l1 G A 11: 8,852,467 (GRCm39) A672V probably benign Het
Pomt2 A G 12: 87,164,703 (GRCm39) probably benign Het
Prpf4 T A 4: 62,333,633 (GRCm39) probably benign Het
Rad17 C T 13: 100,770,370 (GRCm39) probably null Het
Ryr3 T A 2: 112,475,622 (GRCm39) I4499F probably damaging Het
Sav1 A G 12: 70,033,550 (GRCm39) probably benign Het
Scube1 A T 15: 83,491,591 (GRCm39) F887I probably damaging Het
Slc5a6 T C 5: 31,195,179 (GRCm39) S473G probably benign Het
Tmem135 A T 7: 88,814,331 (GRCm39) probably null Het
Vmn2r104 A T 17: 20,263,118 (GRCm39) N114K probably benign Het
Ypel5 A T 17: 73,155,591 (GRCm39) Y53F probably benign Het
Zfp438 A G 18: 5,213,674 (GRCm39) V428A possibly damaging Het
Zzef1 T C 11: 72,757,423 (GRCm39) probably benign Het
Other mutations in Taf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Taf1b APN 12 24,597,066 (GRCm39) missense possibly damaging 0.86
IGL01460:Taf1b APN 12 24,608,245 (GRCm39) missense possibly damaging 0.96
IGL02100:Taf1b APN 12 24,594,394 (GRCm39) missense possibly damaging 0.96
IGL02729:Taf1b APN 12 24,597,624 (GRCm39) splice site probably benign
PIT4283001:Taf1b UTSW 12 24,597,594 (GRCm39) missense possibly damaging 0.86
PIT4519001:Taf1b UTSW 12 24,597,118 (GRCm39) nonsense probably null
R0350:Taf1b UTSW 12 24,564,884 (GRCm39) missense possibly damaging 0.85
R0853:Taf1b UTSW 12 24,564,827 (GRCm39) missense probably benign 0.06
R1023:Taf1b UTSW 12 24,559,558 (GRCm39) utr 3 prime probably benign
R1604:Taf1b UTSW 12 24,606,623 (GRCm39) missense probably benign
R1702:Taf1b UTSW 12 24,559,125 (GRCm39) missense possibly damaging 0.73
R1743:Taf1b UTSW 12 24,597,177 (GRCm39) missense possibly damaging 0.85
R1817:Taf1b UTSW 12 24,597,121 (GRCm39) missense possibly damaging 0.70
R1873:Taf1b UTSW 12 24,606,668 (GRCm39) missense possibly damaging 0.96
R4595:Taf1b UTSW 12 24,550,441 (GRCm39) missense possibly damaging 0.85
R5280:Taf1b UTSW 12 24,599,437 (GRCm39) missense probably benign 0.18
R5838:Taf1b UTSW 12 24,550,448 (GRCm39) missense possibly damaging 0.92
R5849:Taf1b UTSW 12 24,550,524 (GRCm39) missense probably damaging 1.00
R6368:Taf1b UTSW 12 24,608,256 (GRCm39) missense possibly damaging 0.53
R6529:Taf1b UTSW 12 24,606,650 (GRCm39) missense possibly damaging 0.53
R6589:Taf1b UTSW 12 24,606,527 (GRCm39) missense possibly damaging 0.72
R6879:Taf1b UTSW 12 24,550,516 (GRCm39) missense possibly damaging 0.71
R7342:Taf1b UTSW 12 24,608,343 (GRCm39) nonsense probably null
R7449:Taf1b UTSW 12 24,554,992 (GRCm39) missense probably benign 0.33
R8912:Taf1b UTSW 12 24,566,860 (GRCm39) missense possibly damaging 0.73
R9239:Taf1b UTSW 12 24,606,015 (GRCm39) missense probably damaging 1.00
R9337:Taf1b UTSW 12 24,597,121 (GRCm39) missense possibly damaging 0.70
R9510:Taf1b UTSW 12 24,566,947 (GRCm39) missense possibly damaging 0.85
R9780:Taf1b UTSW 12 24,564,818 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16