Incidental Mutation 'R4453:Taf12'
ID 329042
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 041152-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4453 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132001667-132020640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132010306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 92 (I92V)
Ref Sequence ENSEMBL: ENSMUSP00000101583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030731] [ENSMUST00000105963]
AlphaFold Q8VE65
Predicted Effect probably benign
Transcript: ENSMUST00000030731
AA Change: I40V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030731
Gene: ENSMUSG00000028899
AA Change: I40V

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 probably benign
Transcript: ENSMUST00000105963
AA Change: I92V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101583
Gene: ENSMUSG00000028899
AA Change: I92V

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 110 172 5.9e-7 PFAM
Pfam:TFIID_20kDa 111 178 7.3e-39 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 A G 1: 93,322,075 (GRCm39) D361G probably damaging Het
Atp10a TGGCGGCGGC TGGCGGC 7: 58,308,248 (GRCm39) probably benign Het
Ccdc86 G T 19: 10,925,883 (GRCm39) P239T probably damaging Het
Ces2h G A 8: 105,741,288 (GRCm39) probably null Het
Ckap5 T A 2: 91,379,190 (GRCm39) S43R probably damaging Het
Cpne6 G A 14: 55,750,054 (GRCm39) V62M probably damaging Het
Dmbt1 T C 7: 130,642,664 (GRCm39) C161R probably damaging Het
Dnajc10 T C 2: 80,176,967 (GRCm39) S641P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Grm2 G A 9: 106,531,078 (GRCm39) T137I probably damaging Het
Gusb A G 5: 130,027,324 (GRCm39) V327A possibly damaging Het
Helz C T 11: 107,563,455 (GRCm39) Q1631* probably null Het
Hspa1a A G 17: 35,189,269 (GRCm39) Y545H probably benign Het
Hus1 A T 11: 8,956,035 (GRCm39) M166K probably damaging Het
Kcnh1 C A 1: 192,187,825 (GRCm39) T762K probably damaging Het
Limd1 C A 9: 123,309,359 (GRCm39) Q353K possibly damaging Het
Lipe T A 7: 25,097,115 (GRCm39) K276I probably damaging Het
Ntpcr G A 8: 126,462,929 (GRCm39) V49I probably benign Het
Or6c70 T C 10: 129,710,530 (GRCm39) N32S probably null Het
Ppp1r1c A G 2: 79,538,575 (GRCm39) I20V possibly damaging Het
Prdm13 G T 4: 21,679,464 (GRCm39) A342E unknown Het
Prkd3 C A 17: 79,290,975 (GRCm39) R180L probably damaging Het
Prune2 T C 19: 17,099,274 (GRCm39) F1593L probably benign Het
Rims2 T A 15: 39,155,603 (GRCm39) C95S probably damaging Het
Stard9 A G 2: 120,528,272 (GRCm39) M1510V probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tssk5 G A 15: 76,258,743 (GRCm39) R48C probably benign Het
Wwtr1 T C 3: 57,482,680 (GRCm39) probably null Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zfp473 T A 7: 44,382,678 (GRCm39) T552S probably damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L probably benign Het
Other mutations in Taf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3729:Taf12 UTSW 4 132,010,265 (GRCm39) missense probably damaging 1.00
R6796:Taf12 UTSW 4 132,016,725 (GRCm39) missense possibly damaging 0.90
R8432:Taf12 UTSW 4 132,019,228 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGCTGATTGGCCTTGGTC -3'
(R):5'- CAGACCTGACACTGTAGACAATAATTC -3'

Sequencing Primer
(F):5'- TTGGTCCTCACAGCTCTAAAAAG -3'
(R):5'- TTCAATAAAACTGGTAGAGTGGAAG -3'
Posted On 2015-07-21