Incidental Mutation 'R5280:Taf1b'
ID 404170
Institutional Source Beutler Lab
Gene Symbol Taf1b
Ensembl Gene ENSMUSG00000059669
Gene Name TATA-box binding protein associated factor, RNA polymerase I, B
Synonyms 4930408G01Rik, p63, A230108M10Rik, mTAFI68
MMRRC Submission 042840-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R5280 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 24548580-24608570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 24599437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 398 (F398L)
Ref Sequence ENSEMBL: ENSMUSP00000075339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075954] [ENSMUST00000221372]
AlphaFold P97358
Predicted Effect probably benign
Transcript: ENSMUST00000075954
AA Change: F398L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: F398L

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 C T 17: 43,737,225 (GRCm39) T218I probably damaging Het
Adgrv1 C A 13: 81,545,584 (GRCm39) S5567I possibly damaging Het
Alpk1 T C 3: 127,474,813 (GRCm39) T397A probably benign Het
Atp9a T A 2: 168,481,908 (GRCm39) Y880F possibly damaging Het
Celsr1 T C 15: 85,814,747 (GRCm39) T1905A probably benign Het
Chd8 G A 14: 52,442,582 (GRCm39) A656V possibly damaging Het
Dffa A G 4: 149,202,391 (GRCm39) N265S probably benign Het
Frrs1 A G 3: 116,674,545 (GRCm39) D109G probably benign Het
Gm20821 A T Y: 9,783,963 (GRCm39) K195M probably damaging Het
Ifi207 A T 1: 173,557,870 (GRCm39) N289K unknown Het
Kank1 T C 19: 25,388,669 (GRCm39) F781L probably benign Het
Lrba A T 3: 86,232,329 (GRCm39) M759L possibly damaging Het
Lrp8 A G 4: 107,711,518 (GRCm39) Y307C probably damaging Het
Neb T C 2: 52,037,168 (GRCm39) H6847R probably damaging Het
Or2ag19 G A 7: 106,443,902 (GRCm39) C28Y probably benign Het
Or52ab4 T C 7: 102,987,708 (GRCm39) V149A probably benign Het
Pcdha5 C A 18: 37,094,755 (GRCm39) Y421* probably null Het
Pclo T A 5: 14,590,731 (GRCm39) D1010E unknown Het
Pld2 A T 11: 70,443,585 (GRCm39) D449V probably damaging Het
Ppfia1 C A 7: 144,038,832 (GRCm39) M1032I possibly damaging Het
Prickle2 C A 6: 92,353,191 (GRCm39) L758F probably damaging Het
Sarm1 A G 11: 78,374,302 (GRCm39) V564A probably damaging Het
Tll2 A G 19: 41,105,696 (GRCm39) I361T possibly damaging Het
Tmem260 T C 14: 48,742,716 (GRCm39) V517A probably benign Het
Usp24 A G 4: 106,198,411 (GRCm39) K106E probably benign Het
Vcan C A 13: 89,838,405 (GRCm39) V2380F probably benign Het
Vmn2r65 A G 7: 84,595,542 (GRCm39) S381P probably damaging Het
Vmn2r73 T C 7: 85,507,155 (GRCm39) D719G probably damaging Het
Wdr5b T C 16: 35,862,202 (GRCm39) V107A probably benign Het
Wdr7 G T 18: 64,120,383 (GRCm39) V1475F probably benign Het
Ythdc2 A G 18: 44,993,688 (GRCm39) D911G probably damaging Het
Zbtb32 T A 7: 30,289,629 (GRCm39) E11V probably damaging Het
Zfp563 T G 17: 33,323,812 (GRCm39) Y136D probably damaging 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
IGL02305:Taf1b APN 12 24,594,270 (GRCm39) missense possibly damaging 0.73
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
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
Predicted Primers PCR Primer
(F):5'- ACATTGTCGCGCCTTACAG -3'
(R):5'- ATGAGGTCCTGAGCTGGAATC -3'

Sequencing Primer
(F):5'- TCGCGCCTTACAGCAGAGAG -3'
(R):5'- ACTAGAATGTACAGGACCAACATTTC -3'
Posted On 2016-07-22