Incidental Mutation 'R7449:Taf1b'
ID577580
Institutional Source Beutler Lab
Gene Symbol Taf1b
Ensembl Gene ENSMUSG00000059669
Gene NameTATA-box binding protein associated factor, RNA polymerase I, B
SynonymsA230108M10Rik, mTAFI68, p63, 4930408G01Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #R7449 (G1)
Quality Score175.009
Status Not validated
Chromosome12
Chromosomal Location24498359-24558539 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24504993 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 55 (I55T)
Ref Sequence ENSEMBL: ENSMUSP00000075339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075954] [ENSMUST00000221372] [ENSMUST00000222710]
Predicted Effect probably benign
Transcript: ENSMUST00000075954
AA Change: I55T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: I55T

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
AA Change: I55T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000222710
AA Change: I55T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,435,908 Y306N possibly damaging Het
Adgrv1 A T 13: 81,499,073 V3116D probably damaging Het
Adssl1 A T 12: 112,634,151 T185S probably damaging Het
Ago2 G A 15: 73,146,499 P30L probably damaging Het
Atp5j C T 16: 84,831,363 V44M probably benign Het
Atp7b T A 8: 22,011,849 I833F probably damaging Het
Birc6 T A 17: 74,702,341 N4869K probably benign Het
Cacna1c C T 6: 118,602,349 D1796N Het
Ccng2 C G 5: 93,273,343 S237R probably benign Het
Cnga1 A G 5: 72,605,304 I289T probably benign Het
Crybg1 C A 10: 44,004,519 E224D probably benign Het
Dysf T C 6: 84,137,380 L1217P possibly damaging Het
Ebf2 T A 14: 67,410,020 N339K probably damaging Het
Eva1c T C 16: 90,876,193 probably null Het
Fam172a A G 13: 77,759,442 I41V probably damaging Het
Fam184a T C 10: 53,698,634 E293G probably damaging Het
Folh1 G A 7: 86,731,748 P506S probably benign Het
Ftcd A T 10: 76,580,163 K210N probably benign Het
Gdf6 T A 4: 9,844,494 V6D possibly damaging Het
Ghitm C A 14: 37,131,581 G101C probably damaging Het
Gimap5 T A 6: 48,752,904 V136D probably damaging Het
Gm9745 T A 13: 8,943,304 H51L probably damaging Het
Grm4 C T 17: 27,435,371 G535D probably damaging Het
Gse1 T C 8: 120,229,711 S314P unknown Het
Hnrnpdl A G 5: 100,037,155 I279T probably damaging Het
Itpr1 T C 6: 108,389,384 S923P probably damaging Het
Krt39 C A 11: 99,518,061 C303F probably benign Het
Lrrn1 T C 6: 107,568,521 S427P possibly damaging Het
Lrrn3 T A 12: 41,453,488 R277W probably damaging Het
Ltb4r1 T C 14: 55,767,918 L226P probably damaging Het
Map1b C T 13: 99,508,140 R85Q probably damaging Het
Mcoln1 T C 8: 3,507,285 L125P probably damaging Het
Nid1 T G 13: 13,482,051 V589G probably damaging Het
Nlrp5 T G 7: 23,417,526 F225C probably benign Het
Notch3 C T 17: 32,157,966 A322T probably damaging Het
Olfr299 A G 7: 86,465,855 H148R probably benign Het
Olfr69 G T 7: 103,767,819 Q193K probably benign Het
Olfr854 T A 9: 19,566,866 T173S probably benign Het
Otogl A G 10: 107,803,663 C1363R probably damaging Het
Ovol1 T A 19: 5,553,597 D92V probably benign Het
Pigt T C 2: 164,502,499 L356P probably damaging Het
Plekhg3 A G 12: 76,566,222 Q434R probably damaging Het
Plekhh1 T C 12: 79,079,552 F1344L probably benign Het
Psmd3 T A 11: 98,695,551 L515Q probably damaging Het
Pus1 A G 5: 110,774,586 L405P probably damaging Het
Qtrt2 T A 16: 43,881,032 H55L probably benign Het
Rasgrp1 T C 2: 117,287,943 I522V probably damaging Het
Raver2 T A 4: 101,102,663 H113Q probably damaging Het
Recql4 T C 15: 76,705,565 D760G unknown Het
Rhobtb3 C T 13: 75,910,741 V313M probably benign Het
Rhox4d G A X: 37,518,992 G191E unknown Het
Rictor C T 15: 6,772,154 S441L probably benign Het
Rnf185 T C 11: 3,426,578 Q135R probably benign Het
Sema3f T C 9: 107,684,036 S584G probably damaging Het
Sh3pxd2a T A 19: 47,267,652 T904S probably benign Het
Slc4a10 T C 2: 62,303,946 V1002A probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,446,708 probably benign Het
Tenm4 A T 7: 96,874,213 D1654V possibly damaging Het
Tgfb1 G A 7: 25,704,838 V357M probably damaging Het
Tnxb C T 17: 34,703,361 P2383S possibly damaging Het
Trpm1 A T 7: 64,208,975 M382L probably benign Het
Trrap A G 5: 144,851,209 Y3516C probably damaging Het
Txnrd1 T A 10: 82,885,233 Y494* probably null Het
Ubr2 C T 17: 46,964,788 E811K probably damaging Het
Ubxn4 T A 1: 128,244,543 F25I possibly damaging Het
Vmn2r117 A G 17: 23,459,895 M785T probably damaging Het
Vmn2r99 G A 17: 19,379,145 D364N probably benign Het
Vps45 C A 3: 96,047,136 probably null Het
Wdr25 A C 12: 109,026,441 H426P probably damaging Het
Wdr83 A T 8: 85,079,681 W136R probably damaging Het
Xylt1 A C 7: 117,592,005 I343L possibly damaging Het
Znrd1as A G 17: 36,964,383 D16G probably damaging Het
Zscan4b T C 7: 10,904,058 Q53R possibly damaging Het
Other mutations in Taf1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Taf1b APN 12 24547067 missense possibly damaging 0.86
IGL01460:Taf1b APN 12 24558246 missense possibly damaging 0.96
IGL02100:Taf1b APN 12 24544395 missense possibly damaging 0.96
IGL02305:Taf1b APN 12 24544271 missense possibly damaging 0.73
IGL02729:Taf1b APN 12 24547625 splice site probably benign
PIT4283001:Taf1b UTSW 12 24547595 missense possibly damaging 0.86
PIT4519001:Taf1b UTSW 12 24547119 nonsense probably null
R0350:Taf1b UTSW 12 24514885 missense possibly damaging 0.85
R0853:Taf1b UTSW 12 24514828 missense probably benign 0.06
R1023:Taf1b UTSW 12 24509559 utr 3 prime probably benign
R1604:Taf1b UTSW 12 24556624 missense probably benign
R1702:Taf1b UTSW 12 24509126 missense possibly damaging 0.73
R1743:Taf1b UTSW 12 24547178 missense possibly damaging 0.85
R1817:Taf1b UTSW 12 24547122 missense possibly damaging 0.70
R1873:Taf1b UTSW 12 24556669 missense possibly damaging 0.96
R4595:Taf1b UTSW 12 24500442 missense possibly damaging 0.85
R5280:Taf1b UTSW 12 24549438 missense probably benign 0.18
R5838:Taf1b UTSW 12 24500449 missense possibly damaging 0.92
R5849:Taf1b UTSW 12 24500525 missense probably damaging 1.00
R6368:Taf1b UTSW 12 24558257 missense possibly damaging 0.53
R6529:Taf1b UTSW 12 24556651 missense possibly damaging 0.53
R6589:Taf1b UTSW 12 24556528 missense possibly damaging 0.72
R6879:Taf1b UTSW 12 24500517 missense possibly damaging 0.71
R7342:Taf1b UTSW 12 24558344 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGGCTCTTTTAGGAACCAAAG -3'
(R):5'- CCCAGCAGCAACTTGACTTTAAG -3'

Sequencing Primer
(F):5'- AACTGTCATAGTATGTTTTCCCAGTC -3'
(R):5'- GCAGCAACTTGACTTTAAGAACTTGG -3'
Posted On2019-10-07