Incidental Mutation 'R4559:Taf4b'
ID 343009
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
MMRRC Submission 041785-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R4559 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 14916302-15033416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14946583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 469 (S469P)
Ref Sequence ENSEMBL: ENSMUSP00000126909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169862]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000169862
AA Change: S469P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: S469P

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
Meta Mutation Damage Score 0.1356 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik A G 3: 40,567,240 (GRCm39) noncoding transcript Het
1700066M21Rik T C 1: 57,422,083 (GRCm39) F153S possibly damaging Het
Acss1 A G 2: 150,480,405 (GRCm39) V222A probably benign Het
Atad2b A G 12: 4,993,223 (GRCm39) I247M probably benign Het
Atxn10 A G 15: 85,322,321 (GRCm39) I398V possibly damaging Het
Cep192 T A 18: 68,004,584 (GRCm39) C2312S probably damaging Het
Cidea C T 18: 67,493,298 (GRCm39) Q106* probably null Het
Cnga4 A G 7: 105,054,892 (GRCm39) T159A probably damaging Het
Cyp2j12 G T 4: 96,001,194 (GRCm39) S304R probably damaging Het
Dennd2b A G 7: 109,124,785 (GRCm39) F665L probably damaging Het
Dsg4 T A 18: 20,603,978 (GRCm39) V815E probably damaging Het
Entrep1 G A 19: 24,007,913 (GRCm39) S130L probably damaging Het
Farp1 T C 14: 121,510,213 (GRCm39) M737T probably damaging Het
Fbn1 T A 2: 125,193,634 (GRCm39) D1395V possibly damaging Het
Fbn2 C T 18: 58,209,146 (GRCm39) M1076I probably benign Het
Fitm2 T A 2: 163,314,593 (GRCm39) probably benign Het
Fras1 A G 5: 96,929,148 (GRCm39) R3851G probably damaging Het
Frem2 C T 3: 53,561,742 (GRCm39) V922I probably benign Het
Gm10719 A T 9: 3,018,945 (GRCm39) T200S probably benign Het
Grin3a T C 4: 49,844,555 (GRCm39) D176G probably damaging Het
Hdac5 T C 11: 102,089,928 (GRCm39) probably benign Het
Ift140 C A 17: 25,309,741 (GRCm39) H1090Q probably damaging Het
Il20ra A G 10: 19,625,032 (GRCm39) T104A probably damaging Het
Il22ra2 A G 10: 19,502,460 (GRCm39) D93G possibly damaging Het
Ing1 A G 8: 11,612,090 (GRCm39) K176R probably benign Het
Jph1 A T 1: 17,074,735 (GRCm39) C428S probably benign Het
Kif13b G T 14: 65,043,581 (GRCm39) G1794W probably damaging Het
Map10 A G 8: 126,398,553 (GRCm39) T649A probably benign Het
Med12l T C 3: 58,914,523 (GRCm39) probably null Het
Nat8f1 A G 6: 85,887,567 (GRCm39) I131T probably benign Het
Oas1d C A 5: 121,054,958 (GRCm39) Q177K probably benign Het
Or4a74 C A 2: 89,440,043 (GRCm39) M134I probably damaging Het
Or51q1 G A 7: 103,628,767 (GRCm39) D123N probably damaging Het
P2ry2 A G 7: 100,647,363 (GRCm39) V314A possibly damaging Het
Pabir2 G A X: 52,349,554 (GRCm39) probably benign Het
Pfkl G T 10: 77,824,717 (GRCm39) R691S probably benign Het
Plb1 T A 5: 32,490,175 (GRCm39) I1005N probably damaging Het
Prkacb A G 3: 146,451,147 (GRCm39) probably benign Het
Ptprm A T 17: 66,990,403 (GRCm39) Y1412N possibly damaging Het
Rab22a A G 2: 173,503,226 (GRCm39) D13G probably damaging Het
Rab29 G A 1: 131,800,305 (GRCm39) W201* probably null Het
Rasa3 T C 8: 13,648,259 (GRCm39) E135G probably damaging Het
Rassf10 A G 7: 112,554,338 (GRCm39) E313G probably benign Het
Sf1 GGCAGCAGCAGCAGCAGCAGC GGCAGCAGCAGCAGCAGC 19: 6,424,845 (GRCm39) probably benign Het
Sipa1l3 A T 7: 29,031,678 (GRCm39) L468Q probably damaging Het
Slc17a1 A T 13: 24,062,695 (GRCm39) K254* probably null Het
Slc6a12 G A 6: 121,340,820 (GRCm39) probably null Het
Slfn8 A G 11: 82,895,570 (GRCm39) L412P probably damaging Het
Tgoln1 T C 6: 72,592,664 (GRCm39) E272G probably damaging Het
Tlr12 C A 4: 128,509,563 (GRCm39) G896W probably damaging Het
Tnfrsf1a A G 6: 125,337,729 (GRCm39) I229V probably benign Het
Ttn G A 2: 76,749,890 (GRCm39) H3720Y 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
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
R9338:Taf4b UTSW 18 14,954,555 (GRCm39) missense probably benign 0.00
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'- ACTTGCTGGTCCAGGAGTAG -3'
(R):5'- TGGTACTCACTAGTTGCTTGAC -3'

Sequencing Primer
(F):5'- ACACTGGAGTTGTGACACTGC -3'
(R):5'- ACTCACTAGTTGCTTGACTTTGG -3'
Posted On 2015-09-24