Incidental Mutation 'R6796:Taf12'
ID 533004
Institutional Source Beutler Lab
Gene Symbol Taf12
Ensembl Gene ENSMUSG00000028899
Gene Name TATA-box binding protein associated factor 12
Synonyms 20kDa, 2810422D08Rik, Taf2J
MMRRC Submission 044909-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R6796 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 132001667-132020640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132016725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 168 (V168I)
Ref Sequence ENSEMBL: ENSMUSP00000101583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030731] [ENSMUST00000105963]
AlphaFold Q8VE65
Predicted Effect possibly damaging
Transcript: ENSMUST00000030731
AA Change: V116I

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030731
Gene: ENSMUSG00000028899
AA Change: V116I

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 58 120 2.4e-8 PFAM
Pfam:TFIID_20kDa 59 126 6.1e-40 PFAM
Pfam:Histone 61 123 6.2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105963
AA Change: V168I

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101583
Gene: ENSMUSG00000028899
AA Change: V168I

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 110 172 5.9e-7 PFAM
Pfam:TFIID_20kDa 111 178 7.3e-39 PFAM
Meta Mutation Damage Score 0.0814 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Control of transcription by RNA polymerase II involves the basal transcription machinery which is a collection of proteins. These proteins with RNA polymerase II, assemble into complexes which are modulated by transactivator proteins that bind to cis-regulatory elements located adjacent to the transcription start site. Some modulators interact directly with the basal complex, whereas others may act as bridging proteins linking transactivators to the basal transcription factors. Some of these associated factors are weakly attached while others are tightly associated with TBP in the TFIID complex. Among the latter are the TAF proteins. Different TAFs are predicted to mediate the function of distinct transcriptional activators for a variety of gene promoters and RNA polymerases. TAF12 interacts directly with TBP as well as with TAF2I. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,620,597 (GRCm39) V3950A probably damaging Het
App A G 16: 84,917,455 (GRCm39) I63T probably damaging Het
Bpifb4 A T 2: 153,803,467 (GRCm39) K381N probably damaging Het
Cdc45 C T 16: 18,603,607 (GRCm39) A529T probably damaging Het
Cdh18 T A 15: 23,446,159 (GRCm39) N536K probably damaging Het
Dpy19l1 C A 9: 24,414,158 (GRCm39) R90L possibly damaging Het
E2f3 A G 13: 30,102,568 (GRCm39) V231A possibly damaging Het
F930015N05Rik A T 11: 64,326,229 (GRCm39) probably benign Het
Fcer2a T C 8: 3,739,830 (GRCm39) H47R possibly damaging Het
Hcar2 A G 5: 124,003,330 (GRCm39) S58P probably benign Het
Hivep3 A G 4: 119,953,558 (GRCm39) T625A possibly damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Itgax C T 7: 127,734,236 (GRCm39) A336V probably damaging Het
Lin37 A T 7: 30,256,341 (GRCm39) V140E probably damaging Het
Malrd1 T A 2: 15,874,595 (GRCm39) I1341K unknown Het
Map4k5 T C 12: 69,864,799 (GRCm39) I561V probably benign Het
Mcc A G 18: 44,857,627 (GRCm39) S163P probably benign Het
Nlrp12 T C 7: 3,290,039 (GRCm39) T158A probably damaging Het
Or5an6 A T 19: 12,372,292 (GRCm39) I222F probably damaging Het
Or5b119 A G 19: 13,457,278 (GRCm39) C95R probably damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pax8 A T 2: 24,331,098 (GRCm39) M200K probably benign Het
Plcd4 T C 1: 74,601,229 (GRCm39) S498P probably benign Het
Poglut1 T C 16: 38,349,972 (GRCm39) Y267C probably damaging Het
Pom121l2 T C 13: 22,167,694 (GRCm39) I655T probably benign Het
Proca1 G T 11: 78,085,754 (GRCm39) R19L probably benign Het
Prr30 A G 14: 101,436,380 (GRCm39) S61P probably benign Het
Ranbp17 T C 11: 33,167,398 (GRCm39) S1022G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpgrip1 A G 14: 52,387,469 (GRCm39) H1037R probably damaging Het
Rpl34 G T 3: 130,522,926 (GRCm39) T6K probably damaging Het
Scaper T C 9: 55,771,711 (GRCm39) T402A probably benign Het
Selenow A T 7: 15,653,996 (GRCm39) V52E probably damaging Het
Septin14 T A 5: 129,774,822 (GRCm39) I118L probably benign Het
Sis A T 3: 72,872,951 (GRCm39) N62K probably benign Het
Sit1 A T 4: 43,482,761 (GRCm39) C133S probably benign Het
Susd3 ACC AC 13: 49,391,041 (GRCm39) probably null Het
Svep1 A G 4: 58,064,275 (GRCm39) V3236A probably benign Het
Tas2r139 A T 6: 42,118,526 (GRCm39) R219S probably damaging Het
Tmc1 A T 19: 20,776,400 (GRCm39) V653D probably damaging Het
Utp23 T A 15: 51,741,007 (GRCm39) L30Q probably damaging Het
Other mutations in Taf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3729:Taf12 UTSW 4 132,010,265 (GRCm39) missense probably damaging 1.00
R4453:Taf12 UTSW 4 132,010,306 (GRCm39) missense probably benign
R8432:Taf12 UTSW 4 132,019,228 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCACACAGTTGTCCCAG -3'
(R):5'- AAATCTGACTTCCTGGGCATCC -3'

Sequencing Primer
(F):5'- ACAGTTGTCCCAGCAGCAG -3'
(R):5'- GGCATCCCCCTTCCACAAAG -3'
Posted On 2018-08-29