Incidental Mutation 'IGL02049:Taf4b'
ID 185016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf4b
Ensembl Gene ENSMUSG00000054321
Gene Name TATA-box binding protein associated factor 4b
Synonyms Taf2c2, TAFII105, 2610524B04Rik, 105kDa, 4932409F03Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.342) question?
Stock # IGL02049
Quality Score
Status
Chromosome 18
Chromosomal Location 14783245-14900359 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14830139 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 645 (E645D)
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: E645D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: E645D

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T A 2: 35,364,789 R27S probably benign Het
4930596D02Rik C A 14: 35,811,578 V78L probably benign Het
Abca3 T A 17: 24,376,730 C352* probably null Het
Acat3 T A 17: 12,925,320 Y324F probably benign Het
Adamts8 T C 9: 30,951,354 V285A probably damaging Het
Anpep A G 7: 79,835,181 I652T probably damaging Het
Arhgef6 T A X: 57,275,911 Q320L probably damaging Het
Armh1 A T 4: 117,237,663 I60K probably benign Het
Atp11b T C 3: 35,800,493 V145A probably damaging Het
Cacna1c T C 6: 118,603,919 T1674A probably benign Het
Capn2 A T 1: 182,473,954 probably benign Het
Cfd A G 10: 79,890,942 Y6C probably benign Het
Cps1 A G 1: 67,143,954 K157R possibly damaging Het
Csmd3 T A 15: 48,001,474 R786S possibly damaging Het
Dna2 A T 10: 62,957,036 I277L probably damaging Het
Gm5168 A T X: 26,043,705 D50E probably damaging Het
Grik4 T A 9: 42,543,753 probably benign Het
Iqgap2 A G 13: 95,675,405 probably benign Het
Klk10 A T 7: 43,784,458 probably benign Het
Kng1 A G 16: 23,073,437 Y250C probably damaging Het
Las1l A T X: 95,937,453 M690K probably benign Het
Mug1 T A 6: 121,871,336 M673K probably benign Het
Myh9 T C 15: 77,769,870 H1245R probably benign Het
Oprk1 C T 1: 5,598,844 T171I probably damaging Het
Pgm5 A T 19: 24,824,418 S149T probably benign Het
Pla2g4a T C 1: 149,861,096 N424S probably benign Het
Plec A T 15: 76,178,949 L2334Q probably damaging Het
Pus7l G A 15: 94,540,178 S262F probably damaging Het
Rps24 C A 14: 24,491,755 D3E probably benign Het
Rxfp1 T C 3: 79,650,492 N560D probably damaging Het
Sema3c C T 5: 17,721,925 probably benign Het
Slc47a2 A G 11: 61,342,539 F55S probably damaging Het
Slco1a6 A G 6: 142,101,583 probably benign Het
Tmem161a T A 8: 70,178,974 V158E probably damaging Het
Trav13-2 A G 14: 53,635,147 S27G possibly damaging Het
Trav13-2 A T 14: 53,635,145 Q26L possibly damaging Het
Trav13-2 G T 14: 53,635,146 Q26H probably damaging Het
Ttc26 A G 6: 38,425,132 T520A probably benign Het
Vmn2r108 T A 17: 20,471,346 H305L probably benign Het
Zfp263 A G 16: 3,744,618 I82V probably damaging Het
Other mutations in Taf4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Taf4b APN 18 14844420 missense probably damaging 1.00
IGL01755:Taf4b APN 18 14897985 missense probably benign
IGL01755:Taf4b APN 18 14897986 missense probably benign 0.13
IGL02650:Taf4b APN 18 14841983 nonsense probably null
IGL03078:Taf4b APN 18 14813554 missense possibly damaging 0.48
IGL03169:Taf4b APN 18 14821535 missense probably damaging 1.00
IGL03261:Taf4b APN 18 14821528 missense probably benign
adirondack UTSW 18 14804578 missense probably null 0.16
R0266:Taf4b UTSW 18 14813077 splice site probably benign
R0385:Taf4b UTSW 18 14783760 missense probably benign 0.00
R1015:Taf4b UTSW 18 14813098 missense probably damaging 1.00
R1054:Taf4b UTSW 18 14821473 missense probably benign 0.00
R1416:Taf4b UTSW 18 14821427 splice site probably benign
R1435:Taf4b UTSW 18 14807409 missense probably damaging 1.00
R1609:Taf4b UTSW 18 14835881 missense probably damaging 1.00
R1611:Taf4b UTSW 18 14844469 missense probably null 1.00
R1906:Taf4b UTSW 18 14822102 missense probably benign 0.00
R2038:Taf4b UTSW 18 14807399 missense probably damaging 1.00
R2890:Taf4b UTSW 18 14804792 missense probably damaging 1.00
R4527:Taf4b UTSW 18 14821442 missense probably damaging 1.00
R4559:Taf4b UTSW 18 14813526 missense probably damaging 1.00
R4773:Taf4b UTSW 18 14804520 missense probably benign 0.30
R4857:Taf4b UTSW 18 14804578 missense probably null 0.16
R4946:Taf4b UTSW 18 14813542 missense probably damaging 1.00
R4984:Taf4b UTSW 18 14835816 missense probably damaging 1.00
R4994:Taf4b UTSW 18 14898043 missense probably damaging 0.99
R5010:Taf4b UTSW 18 14822172 missense possibly damaging 0.59
R5155:Taf4b UTSW 18 14830095 missense probably benign 0.07
R5874:Taf4b UTSW 18 14804554 missense probably benign
R6079:Taf4b UTSW 18 14822198 missense possibly damaging 0.75
R6303:Taf4b UTSW 18 14807355 missense probably damaging 1.00
R6304:Taf4b UTSW 18 14807355 missense probably damaging 1.00
R6372:Taf4b UTSW 18 14804733 missense probably damaging 1.00
R6972:Taf4b UTSW 18 14813347 missense possibly damaging 0.86
R7538:Taf4b UTSW 18 14813545 missense probably damaging 1.00
R7790:Taf4b UTSW 18 14813274 missense probably damaging 1.00
R8021:Taf4b UTSW 18 14804524 missense probably damaging 1.00
R8072:Taf4b UTSW 18 14821528 missense probably benign
R8075:Taf4b UTSW 18 14783692 missense possibly damaging 0.58
R8145:Taf4b UTSW 18 14830028 missense probably damaging 1.00
R8221:Taf4b UTSW 18 14898049 missense probably damaging 1.00
R8320:Taf4b UTSW 18 14783692 missense possibly damaging 0.58
R8509:Taf4b UTSW 18 14898055 missense probably damaging 1.00
R8535:Taf4b UTSW 18 14822138 missense probably damaging 0.99
R8772:Taf4b UTSW 18 14835852 missense probably damaging 1.00
R8805:Taf4b UTSW 18 14813428 missense possibly damaging 0.65
R8874:Taf4b UTSW 18 14830070 missense probably benign 0.39
R9155:Taf4b UTSW 18 14813239 missense probably benign 0.00
R9254:Taf4b UTSW 18 14813374 missense probably damaging 0.98
R9338:Taf4b UTSW 18 14821498 missense probably benign 0.00
R9379:Taf4b UTSW 18 14813374 missense probably damaging 0.98
Posted On 2014-05-07