Incidental Mutation 'IGL03261:Taf4b'
ID414814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf4b
Ensembl Gene ENSMUSG00000054321
Gene NameTATA-box binding protein associated factor 4b
SynonymsTaf2c2, TAFII105, 2610524B04Rik, 105kDa, 4932409F03Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.491) question?
Stock #IGL03261
Quality Score
Status
Chromosome18
Chromosomal Location14783245-14900359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14821528 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 554 (T554A)
Ref Sequence ENSEMBL: ENSMUSP00000126909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169862]
Predicted Effect probably benign
Transcript: ENSMUST00000169862
AA Change: T554A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: T554A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T G 7: 27,580,438 Y281* probably null Het
5830411N06Rik A G 7: 140,294,833 H408R probably benign Het
Adamts3 T C 5: 89,882,897 probably benign Het
Afp T C 5: 90,491,751 probably null Het
Ap1g2 T C 14: 55,100,530 T634A probably benign Het
Cidec A G 6: 113,433,172 V32A probably benign Het
Dip2a G A 10: 76,305,148 P315S possibly damaging Het
Hoxc11 T C 15: 102,954,743 V73A probably benign Het
Jmjd1c A G 10: 67,232,070 Y1784C probably damaging Het
Mmp21 A G 7: 133,674,674 V480A probably benign Het
Nek4 C T 14: 30,975,290 T471I probably benign Het
Nr4a2 A G 2: 57,110,187 V299A probably benign Het
Olfr761 A T 17: 37,952,806 S73T possibly damaging Het
Olfr774 A G 10: 129,238,403 T85A possibly damaging Het
Ptprg A G 14: 12,225,552 D505G probably damaging Het
Rag2 A G 2: 101,630,263 D306G probably damaging Het
Rpap2 T A 5: 107,598,560 S38T possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Slx4ip A T 2: 137,046,739 R113S probably benign Het
Smyd5 T A 6: 85,432,018 M5K probably benign Het
Stkld1 A T 2: 26,952,777 H587L probably benign Het
Tex16 C A X: 112,118,855 D350E possibly damaging Het
Tex38 T C 4: 115,780,526 K27E possibly damaging Het
Trdv4 T C 14: 54,075,418 L83P possibly damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Vmn1r120 A G 7: 21,053,525 L87P probably damaging Het
Zfp236 T C 18: 82,630,608 D916G possibly 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
IGL02049:Taf4b APN 18 14830139 missense probably benign 0.00
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
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
Posted On2016-08-02