Incidental Mutation 'R3729:Taf12'
ID 270870
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 040719-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R3729 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 132001667-132020640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 132010265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 78 (P78Q)
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: P26Q

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030731
Gene: ENSMUSG00000028899
AA Change: P26Q

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 damaging
Transcript: ENSMUST00000105963
AA Change: P78Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101583
Gene: ENSMUSG00000028899
AA Change: P78Q

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (48/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,345,409 (GRCm39) D954G probably damaging Het
Acvr1 T C 2: 58,352,925 (GRCm39) K345R probably null Het
Aldoart2 A G 12: 55,613,104 (GRCm39) Y343C probably damaging Het
Arpp21 T A 9: 111,895,047 (GRCm39) Y739F possibly damaging Het
Cachd1 C A 4: 100,832,077 (GRCm39) Y746* probably null Het
Card14 T C 11: 119,224,758 (GRCm39) V595A probably damaging Het
Dhx33 T C 11: 70,879,978 (GRCm39) D344G probably benign Het
Dnah12 T A 14: 26,427,220 (GRCm39) D171E probably benign Het
Fat3 A G 9: 16,158,337 (GRCm39) probably benign Het
Fmnl3 A G 15: 99,219,745 (GRCm39) F668L probably damaging Het
Frmpd4 G A X: 166,269,803 (GRCm39) T493M probably damaging Het
Gcn1 A T 5: 115,721,453 (GRCm39) probably benign Het
Hspbp1 G T 7: 4,680,808 (GRCm39) Q223K probably damaging Het
Ighv1-19 C A 12: 114,672,497 (GRCm39) C40F probably damaging Het
Igkv4-90 A G 6: 68,784,665 (GRCm39) F10L probably benign Het
Kctd5 T C 17: 24,278,212 (GRCm39) D146G probably benign Het
Kif4-ps A G 12: 101,112,369 (GRCm39) E166G probably damaging Het
Lemd3 T C 10: 120,763,920 (GRCm39) D780G probably damaging Het
Manba G A 3: 135,260,611 (GRCm39) V599I probably benign Het
Map2 A G 1: 66,451,605 (GRCm39) E247G possibly damaging Het
Mfsd1 T C 3: 67,490,298 (GRCm39) F50L probably benign Het
Mier2 T C 10: 79,380,876 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nol10 A T 12: 17,474,674 (GRCm39) K622I probably benign Het
Or5p62 A T 7: 107,771,516 (GRCm39) I145N probably benign Het
Or8d2b T C 9: 38,788,547 (GRCm39) F25S probably damaging Het
Phtf1 A G 3: 103,893,095 (GRCm39) M120V probably benign Het
Prrx1 A G 1: 163,089,446 (GRCm39) L127P probably damaging Het
Rbsn T C 6: 92,168,316 (GRCm39) M373V possibly damaging Het
Sec24b T C 3: 129,827,482 (GRCm39) K203R possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc4a7 A T 14: 14,729,276 (GRCm38) E47D probably damaging Het
Tnn A G 1: 159,973,810 (GRCm39) C186R probably damaging Het
Trim46 T A 3: 89,142,256 (GRCm39) T721S probably benign Het
Trip4 T C 9: 65,788,224 (GRCm39) N74D possibly damaging Het
Tssk5 C T 15: 76,257,096 (GRCm39) R262H probably benign Het
Vegfa T C 17: 46,335,446 (GRCm39) I105V possibly damaging Het
Vmn2r14 T C 5: 109,364,095 (GRCm39) Y607C probably damaging Het
Wdr83 G T 8: 85,806,968 (GRCm39) H66Q probably damaging Het
Zfp280b A G 10: 75,874,936 (GRCm39) T272A probably benign Het
Zfp960 T A 17: 17,308,633 (GRCm39) L449H probably damaging Het
Other mutations in Taf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4453:Taf12 UTSW 4 132,010,306 (GRCm39) missense probably benign
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'- TACTTTCAGAACTCAGCCAGC -3'
(R):5'- AATGAGCGCCTGACAACATC -3'

Sequencing Primer
(F):5'- CACTGCAGGTGTCTCTAGAGTAAC -3'
(R):5'- TGACAACATCCATCTCTGTATGGAC -3'
Posted On 2015-03-18