Incidental Mutation 'R9338:Taf4b'
ID 707335
Institutional Source Beutler Lab
Gene Symbol Taf4b
Ensembl Gene ENSMUSG00000054321
Gene Name TATA-box binding protein associated factor 4b
Synonyms 4932409F03Rik, TAFII105, Taf2c2, 2610524B04Rik, 105kDa
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R9338 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 14916302-15033416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14954555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 544 (P544S)
Ref Sequence ENSEMBL: ENSMUSP00000126909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169862]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000169862
AA Change: P544S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: P544S

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 185 196 N/A INTRINSIC
Pfam:TAFH 257 348 5.3e-39 PFAM
low complexity region 359 376 N/A INTRINSIC
low complexity region 412 422 N/A INTRINSIC
Pfam:TAF4 610 852 4e-72 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation are infertile due to a granulosa cell defect preventing normal follicle formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam30 G A 3: 98,070,129 (GRCm39) G654D probably damaging Het
Cct3 T C 3: 88,225,706 (GRCm39) V343A probably benign Het
Col11a2 A G 17: 34,266,204 (GRCm39) T358A unknown Het
Cox6a2 T C 7: 127,804,914 (GRCm39) Y94C probably damaging Het
Cubn T A 2: 13,386,703 (GRCm39) I1521F probably damaging Het
Dclk3 C A 9: 111,268,373 (GRCm39) A14E unknown Het
Dlgap2 T C 8: 14,229,683 (GRCm39) probably null Het
Dop1b C A 16: 93,600,448 (GRCm39) Q2042K probably damaging Het
Ech1 A G 7: 28,525,427 (GRCm39) S61G probably null Het
Ext2 T A 2: 93,526,603 (GRCm39) N678Y probably damaging Het
Fgfr2 G T 7: 129,863,561 (GRCm39) C28* probably null Het
Gon4l C A 3: 88,809,019 (GRCm39) D1754E probably benign Het
Hivep2 T A 10: 14,004,693 (GRCm39) C430* probably null Het
Htr7 C T 19: 35,941,780 (GRCm39) probably null Het
Idh3b A T 2: 130,122,392 (GRCm39) M331K probably damaging Het
Ighv2-7 A T 12: 113,771,118 (GRCm39) F56I probably benign Het
Inpp5k C T 11: 75,536,411 (GRCm39) H330Y probably damaging Het
Kif26b T C 1: 178,744,058 (GRCm39) Y1385H probably damaging Het
Mad1l1 A G 5: 140,074,561 (GRCm39) L543P probably damaging Het
Mdn1 A T 4: 32,666,536 (GRCm39) H158L probably benign Het
Mpp2 T A 11: 101,951,249 (GRCm39) T511S probably benign Het
Msantd5f6 T C 4: 73,320,245 (GRCm39) E178G possibly damaging Het
Msh4 T C 3: 153,573,444 (GRCm39) I737V possibly damaging Het
Myo15b T C 11: 115,762,238 (GRCm39) L1186P Het
Nckap1l A G 15: 103,379,991 (GRCm39) T346A probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Npy5r T C 8: 67,134,658 (GRCm39) N45S probably benign Het
Or6c202 T C 10: 128,996,610 (GRCm39) N81S probably benign Het
Pde6a G A 18: 61,354,109 (GRCm39) A145T probably damaging Het
Pfkp A C 13: 6,634,724 (GRCm39) S678A probably damaging Het
Phxr2 A G 10: 98,962,043 (GRCm39) probably benign Het
Pi4ka C A 16: 17,135,227 (GRCm39) L942F Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2g4e T A 2: 120,019,914 (GRCm39) T179S probably benign Het
Popdc2 G A 16: 38,194,509 (GRCm39) C310Y probably benign Het
Ppip5k1 C T 2: 121,153,827 (GRCm39) R113Q Het
Prmt7 C T 8: 106,961,665 (GRCm39) R193C unknown Het
Prph G C 15: 98,955,359 (GRCm39) R442P probably damaging Het
Prrc2b A G 2: 32,098,779 (GRCm39) Y697C probably damaging Het
Ptprm T A 17: 67,069,143 (GRCm39) R962S probably damaging Het
Raph1 A G 1: 60,529,300 (GRCm39) S654P unknown Het
Reln A G 5: 22,202,937 (GRCm39) F1288L probably damaging Het
Rhot1 T A 11: 80,145,568 (GRCm39) I553N probably benign Het
Rnf168 T C 16: 32,110,801 (GRCm39) probably null Het
Slamf6 T A 1: 171,747,157 (GRCm39) probably benign Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
Tbc1d24 A G 17: 24,427,377 (GRCm39) V195A probably benign Het
Tomm70a A G 16: 56,942,399 (GRCm39) M59V probably benign Het
Trip12 A G 1: 84,727,019 (GRCm39) S1184P probably damaging Het
Trrap A G 5: 144,727,925 (GRCm39) S549G probably benign Het
Unc5d T A 8: 29,709,471 (GRCm39) probably benign Het
Ush2a G A 1: 188,308,489 (GRCm39) probably null Het
Usp45 T C 4: 21,784,755 (GRCm39) V147A probably damaging Het
Vmn2r77 T A 7: 86,460,994 (GRCm39) N773K probably damaging Het
Vps13c A T 9: 67,858,977 (GRCm39) N2809I probably damaging Het
Yeats2 T A 16: 20,032,078 (GRCm39) S984R possibly damaging Het
Yeats2 T A 16: 20,041,533 (GRCm39) L1141Q probably damaging Het
Zfp58 T A 13: 67,639,394 (GRCm39) T366S probably benign Het
Other mutations in Taf4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Taf4b APN 18 14,977,477 (GRCm39) missense probably damaging 1.00
IGL01755:Taf4b APN 18 15,031,043 (GRCm39) missense probably benign 0.13
IGL01755:Taf4b APN 18 15,031,042 (GRCm39) missense probably benign
IGL02049:Taf4b APN 18 14,963,196 (GRCm39) missense probably benign 0.00
IGL02650:Taf4b APN 18 14,975,040 (GRCm39) nonsense probably null
IGL03078:Taf4b APN 18 14,946,611 (GRCm39) missense possibly damaging 0.48
IGL03169:Taf4b APN 18 14,954,592 (GRCm39) missense probably damaging 1.00
IGL03261:Taf4b APN 18 14,954,585 (GRCm39) missense probably benign
adirondack UTSW 18 14,937,635 (GRCm39) missense probably null 0.16
R0266:Taf4b UTSW 18 14,946,134 (GRCm39) splice site probably benign
R0385:Taf4b UTSW 18 14,916,817 (GRCm39) missense probably benign 0.00
R1015:Taf4b UTSW 18 14,946,155 (GRCm39) missense probably damaging 1.00
R1054:Taf4b UTSW 18 14,954,530 (GRCm39) missense probably benign 0.00
R1416:Taf4b UTSW 18 14,954,484 (GRCm39) splice site probably benign
R1435:Taf4b UTSW 18 14,940,466 (GRCm39) missense probably damaging 1.00
R1609:Taf4b UTSW 18 14,968,938 (GRCm39) missense probably damaging 1.00
R1611:Taf4b UTSW 18 14,977,526 (GRCm39) missense probably null 1.00
R1906:Taf4b UTSW 18 14,955,159 (GRCm39) missense probably benign 0.00
R2038:Taf4b UTSW 18 14,940,456 (GRCm39) missense probably damaging 1.00
R2890:Taf4b UTSW 18 14,937,849 (GRCm39) missense probably damaging 1.00
R4527:Taf4b UTSW 18 14,954,499 (GRCm39) missense probably damaging 1.00
R4559:Taf4b UTSW 18 14,946,583 (GRCm39) missense probably damaging 1.00
R4773:Taf4b UTSW 18 14,937,577 (GRCm39) missense probably benign 0.30
R4857:Taf4b UTSW 18 14,937,635 (GRCm39) missense probably null 0.16
R4946:Taf4b UTSW 18 14,946,599 (GRCm39) missense probably damaging 1.00
R4984:Taf4b UTSW 18 14,968,873 (GRCm39) missense probably damaging 1.00
R4994:Taf4b UTSW 18 15,031,100 (GRCm39) missense probably damaging 0.99
R5010:Taf4b UTSW 18 14,955,229 (GRCm39) missense possibly damaging 0.59
R5155:Taf4b UTSW 18 14,963,152 (GRCm39) missense probably benign 0.07
R5874:Taf4b UTSW 18 14,937,611 (GRCm39) missense probably benign
R6079:Taf4b UTSW 18 14,955,255 (GRCm39) missense possibly damaging 0.75
R6303:Taf4b UTSW 18 14,940,412 (GRCm39) missense probably damaging 1.00
R6304:Taf4b UTSW 18 14,940,412 (GRCm39) missense probably damaging 1.00
R6372:Taf4b UTSW 18 14,937,790 (GRCm39) missense probably damaging 1.00
R6972:Taf4b UTSW 18 14,946,404 (GRCm39) missense possibly damaging 0.86
R7538:Taf4b UTSW 18 14,946,602 (GRCm39) missense probably damaging 1.00
R7790:Taf4b UTSW 18 14,946,331 (GRCm39) missense probably damaging 1.00
R8021:Taf4b UTSW 18 14,937,581 (GRCm39) missense probably damaging 1.00
R8072:Taf4b UTSW 18 14,954,585 (GRCm39) missense probably benign
R8075:Taf4b UTSW 18 14,916,749 (GRCm39) missense possibly damaging 0.58
R8145:Taf4b UTSW 18 14,963,085 (GRCm39) missense probably damaging 1.00
R8221:Taf4b UTSW 18 15,031,106 (GRCm39) missense probably damaging 1.00
R8320:Taf4b UTSW 18 14,916,749 (GRCm39) missense possibly damaging 0.58
R8509:Taf4b UTSW 18 15,031,112 (GRCm39) missense probably damaging 1.00
R8535:Taf4b UTSW 18 14,955,195 (GRCm39) missense probably damaging 0.99
R8772:Taf4b UTSW 18 14,968,909 (GRCm39) missense probably damaging 1.00
R8805:Taf4b UTSW 18 14,946,485 (GRCm39) missense possibly damaging 0.65
R8874:Taf4b UTSW 18 14,963,127 (GRCm39) missense probably benign 0.39
R9155:Taf4b UTSW 18 14,946,296 (GRCm39) missense probably benign 0.00
R9254:Taf4b UTSW 18 14,946,431 (GRCm39) missense probably damaging 0.98
R9379:Taf4b UTSW 18 14,946,431 (GRCm39) missense probably damaging 0.98
R9630:Taf4b UTSW 18 14,930,077 (GRCm39) missense probably damaging 0.96
R9686:Taf4b UTSW 18 14,932,215 (GRCm39) missense possibly damaging 0.87
R9801:Taf4b UTSW 18 14,932,235 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGCATTCTTATTGTGCTAGCAAG -3'
(R):5'- GAAATCAGCTTATAAACATCGCTGG -3'

Sequencing Primer
(F):5'- CATGCTTCCTTGAGTGAC -3'
(R):5'- CATCATGCTTGAAAGGTAAATGTTG -3'
Posted On 2022-04-18