Incidental Mutation 'R5849:Taf1b'
ID 453797
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 044066-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R5849 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 24548580-24608570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24550524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 36 (N36K)
Ref Sequence ENSEMBL: ENSMUSP00000152862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075954] [ENSMUST00000221372] [ENSMUST00000222710]
AlphaFold P97358
Predicted Effect possibly damaging
Transcript: ENSMUST00000075954
AA Change: N36K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: N36K

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 damaging
Transcript: ENSMUST00000221372
AA Change: N36K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222710
AA Change: N36K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223503
Meta Mutation Damage Score 0.8456 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 96% (72/75)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Agbl1 T C 7: 75,974,846 (GRCm39) S113P probably benign Het
Ak9 A G 10: 41,224,045 (GRCm39) D486G probably benign Het
Aopep A G 13: 63,163,312 (GRCm39) D111G probably benign Het
Arhgap11a T C 2: 113,665,192 (GRCm39) S469G probably null Het
Comtd1 C T 14: 21,898,188 (GRCm39) G48D probably damaging Het
Cyp27a1 T C 1: 74,775,843 (GRCm39) S343P probably damaging Het
Dcun1d1 T A 3: 35,970,333 (GRCm39) probably benign Het
Dennd4c T C 4: 86,744,223 (GRCm39) I1404T possibly damaging Het
Dlgap5 A G 14: 47,626,892 (GRCm39) S766P possibly damaging Het
Ebf1 T A 11: 44,881,331 (GRCm39) probably null Het
Flcn T A 11: 59,695,586 (GRCm39) I4L probably damaging Het
Gm57858 A T 3: 36,087,026 (GRCm39) D189E possibly damaging Het
Grin2c T C 11: 115,151,817 (GRCm39) T48A probably benign Het
Hyal5 T A 6: 24,891,555 (GRCm39) S456R probably benign Het
Igf1r A G 7: 67,839,781 (GRCm39) D696G probably benign Het
Iqgap1 A T 7: 80,452,906 (GRCm39) V13D probably benign Het
Itgal A G 7: 126,916,492 (GRCm39) N728S probably benign Het
Kcnb1 T A 2: 166,947,946 (GRCm39) I301F probably damaging Het
Kcnd3 A G 3: 105,366,111 (GRCm39) probably benign Het
Kdm4a C T 4: 118,019,037 (GRCm39) R393Q probably benign Het
Lcn9 G A 2: 25,713,268 (GRCm39) probably null Het
Madcam1 T A 10: 79,500,824 (GRCm39) M47K probably benign Het
Matn3 A G 12: 9,008,829 (GRCm39) Q314R probably benign Het
Msh3 A T 13: 92,386,386 (GRCm39) D826E possibly damaging Het
Muc4 A T 16: 32,595,213 (GRCm39) T3088S possibly damaging Het
Mup3 T G 4: 62,005,172 (GRCm39) probably null Het
Myo15b A G 11: 115,772,759 (GRCm39) K1807E probably damaging Het
Myrip A G 9: 120,282,759 (GRCm39) D688G probably damaging Het
Nup153 A G 13: 46,840,452 (GRCm39) F1052S probably damaging Het
Oplah T A 15: 76,181,547 (GRCm39) probably benign Het
Or4f14d A T 2: 111,960,223 (GRCm39) I311K probably benign Het
Or52r1c T A 7: 102,734,728 (GRCm39) M1K probably null Het
Or6z3 A T 7: 6,463,993 (GRCm39) I162F possibly damaging Het
Or9g19 A T 2: 85,600,768 (GRCm39) I208F probably benign Het
Pacsin2 A G 15: 83,274,719 (GRCm39) F120L possibly damaging Het
Ppp1r36 C A 12: 76,485,931 (GRCm39) P363Q probably damaging Het
Rai1 C A 11: 60,081,347 (GRCm39) H1804N possibly damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rnf214 G A 9: 45,779,386 (GRCm39) P455S probably damaging Het
Rnf220 T C 4: 117,134,809 (GRCm39) T188A possibly damaging Het
S1pr4 C T 10: 81,335,157 (GRCm39) V106M possibly damaging Het
Sall2 C A 14: 52,551,704 (GRCm39) S495I probably benign Het
Sars2 A G 7: 28,443,683 (GRCm39) E95G possibly damaging Het
Sema3f G A 9: 107,559,815 (GRCm39) T693M probably damaging Het
Slfn2 C A 11: 82,960,402 (GRCm39) T127K probably benign Het
Snrpe T A 1: 133,536,652 (GRCm39) I43L probably benign Het
Srsf1 T C 11: 87,938,684 (GRCm39) I7T possibly damaging Het
Ssbp1 T A 6: 40,453,837 (GRCm39) probably benign Het
Stbd1 T G 5: 92,752,854 (GRCm39) F115V probably benign Het
Stk11ip T A 1: 75,503,999 (GRCm39) probably null Het
Tanc1 A T 2: 59,630,248 (GRCm39) M743L probably benign Het
Tnfsf12 C A 11: 69,577,793 (GRCm39) R208L probably damaging Het
Trafd1 T C 5: 121,511,534 (GRCm39) D428G probably damaging Het
Trim24 A G 6: 37,934,664 (GRCm39) E793G probably damaging Het
Tspan32 T C 7: 142,569,324 (GRCm39) C100R probably damaging Het
Ttn T C 2: 76,576,586 (GRCm39) D16442G probably damaging Het
Ube3c T A 5: 29,863,407 (GRCm39) L894Q probably damaging Het
Wfs1 C G 5: 37,130,608 (GRCm39) G213R probably damaging Het
Zfp384 G A 6: 125,001,062 (GRCm39) A45T possibly damaging Het
Zfp865 G T 7: 5,034,086 (GRCm39) K690N 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
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
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'- ATGCTACTAAAGAGACGAGACTC -3'
(R):5'- GAAGTTCATCACCAATCTAGTTTGC -3'

Sequencing Primer
(F):5'- CTTCTGGTGCATCTGAAGACAGC -3'
(R):5'- CATCACCAATCTAGTTTGCAAATTTC -3'
Posted On 2017-02-10