Incidental Mutation 'R4938:Taf1c'
ID 382848
Institutional Source Beutler Lab
Gene Symbol Taf1c
Ensembl Gene ENSMUSG00000031832
Gene Name TATA-box binding protein associated factor, RNA polymerase I, C
Synonyms mTAFI95
MMRRC Submission 042537-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R4938 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 120324713-120331945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120325537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 775 (V775A)
Ref Sequence ENSEMBL: ENSMUSP00000090789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093099] [ENSMUST00000093100] [ENSMUST00000147964]
AlphaFold Q6PDZ2
Predicted Effect probably benign
Transcript: ENSMUST00000093099
AA Change: V775A

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: V775A

DomainStartEndE-ValueType
low complexity region 60 79 N/A INTRINSIC
SCOP:d1k32a3 253 389 2e-3 SMART
Blast:WD40 301 340 2e-15 BLAST
low complexity region 457 472 N/A INTRINSIC
low complexity region 478 490 N/A INTRINSIC
low complexity region 520 535 N/A INTRINSIC
low complexity region 724 732 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093100
SMART Domains Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831

DomainStartEndE-ValueType
Pfam:LRR_9 115 298 5.7e-10 PFAM
low complexity region 322 332 N/A INTRINSIC
low complexity region 482 501 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212929
Predicted Effect probably benign
Transcript: ENSMUST00000147964
SMART Domains Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832

DomainStartEndE-ValueType
low complexity region 60 79 N/A INTRINSIC
Meta Mutation Damage Score 0.0907 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl14ep G T 2: 106,799,663 (GRCm39) H59Q probably damaging Het
Atp6v0a4 T A 6: 38,055,749 (GRCm39) I321F possibly damaging Het
Cdr2l A G 11: 115,284,651 (GRCm39) D329G possibly damaging Het
Cep55 A G 19: 38,058,364 (GRCm39) E319G probably damaging Het
Cfhr2 C T 1: 139,741,265 (GRCm39) V237I probably benign Het
Clasrp A G 7: 19,318,703 (GRCm39) probably null Het
Col12a1 C A 9: 79,607,632 (GRCm39) E399* probably null Het
Cyp19a1 T A 9: 54,080,647 (GRCm39) I237F probably benign Het
Dnajc6 T G 4: 101,494,010 (GRCm39) N847K probably damaging Het
E330013P04Rik C G 19: 60,150,453 (GRCm39) noncoding transcript Het
Entpd2 A G 2: 25,289,429 (GRCm39) T304A probably benign Het
Etl4 A G 2: 20,803,460 (GRCm39) T779A probably benign Het
Fam107b A T 2: 3,773,907 (GRCm39) I35L probably benign Het
Fgg A T 3: 82,920,175 (GRCm39) Y318F probably benign Het
Fitm1 A C 14: 55,814,076 (GRCm39) T191P probably damaging Het
Fras1 A G 5: 96,924,583 (GRCm39) M3675V probably damaging Het
Fry C T 5: 150,401,454 (GRCm39) R731W probably damaging Het
Galnt17 A T 5: 131,335,237 (GRCm39) S68T probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Grm1 C T 10: 10,812,257 (GRCm39) A256T probably damaging Het
Hoxd13 A G 2: 74,499,027 (GRCm39) Y125C probably benign Het
Hspa14 A T 2: 3,492,646 (GRCm39) I373K probably benign Het
Ifnlr1 A G 4: 135,432,593 (GRCm39) E343G probably benign Het
Ighv5-9 A G 12: 113,625,582 (GRCm39) S54P probably benign Het
Insyn2b G A 11: 34,352,231 (GRCm39) G91E probably damaging Het
Irf2bpl A G 12: 86,928,892 (GRCm39) S594P possibly damaging Het
Kcnq2 A G 2: 180,728,766 (GRCm39) S548P probably damaging Het
Lrp2 G A 2: 69,302,712 (GRCm39) R3006W probably damaging Het
Lrrc4c A T 2: 97,459,646 (GRCm39) I91F probably damaging Het
Mdh1b T C 1: 63,750,663 (GRCm39) D435G probably benign Het
Mettl3 A T 14: 52,537,184 (GRCm39) S182T probably damaging Het
Mllt6 A G 11: 97,569,233 (GRCm39) T862A probably benign Het
Mmp27 G T 9: 7,578,983 (GRCm39) R412I probably damaging Het
Mstn A G 1: 53,105,582 (GRCm39) N308S possibly damaging Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Ngf C T 3: 102,427,790 (GRCm39) R180W probably damaging Het
Notch1 G A 2: 26,364,136 (GRCm39) Q862* probably null Het
Nsrp1 T C 11: 76,936,570 (GRCm39) D542G probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or5b21 T A 19: 12,839,916 (GRCm39) M259K probably damaging Het
Or8b43 T A 9: 38,360,679 (GRCm39) D170E probably benign Het
Papln C T 12: 83,829,677 (GRCm39) P911S probably benign Het
Pdxdc1 A G 16: 13,693,933 (GRCm39) V163A probably benign Het
Plekhj1 A T 10: 80,633,609 (GRCm39) I76N probably damaging Het
Pnp2 A G 14: 51,201,025 (GRCm39) probably null Het
Polr3gl T C 3: 96,487,208 (GRCm39) E89G probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prss37 A G 6: 40,491,917 (GRCm39) I221T possibly damaging Het
Ptx4 C T 17: 25,342,139 (GRCm39) Q205* probably null Het
Qsox1 T C 1: 155,655,414 (GRCm39) E583G probably benign Het
Riok3 T A 18: 12,288,300 (GRCm39) N492K probably benign Het
Sec13 A G 6: 113,712,153 (GRCm39) W61R probably damaging Het
Slc20a2 T C 8: 23,051,221 (GRCm39) V418A possibly damaging Het
Smad9 G A 3: 54,696,651 (GRCm39) V239I probably benign Het
Stmn2 A G 3: 8,610,792 (GRCm39) E92G probably damaging Het
Thsd7a T A 6: 12,330,991 (GRCm39) I1384L probably benign Het
Tnxb A G 17: 34,932,606 (GRCm39) Y2275C probably damaging Het
Trmo G T 4: 46,382,388 (GRCm39) T243N probably benign Het
Tyrp1 C T 4: 80,758,883 (GRCm39) A252V probably damaging Het
Vasp T C 7: 18,991,642 (GRCm39) *376W probably null Het
Vmn1r231 T C 17: 21,110,613 (GRCm39) I101V possibly damaging Het
Zfp532 T C 18: 65,756,837 (GRCm39) S257P probably benign Het
Zfp563 G A 17: 33,324,683 (GRCm39) C426Y probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp703 C A 8: 27,469,801 (GRCm39) H488Q probably damaging Het
Zfp964 A G 8: 70,116,758 (GRCm39) N452D possibly damaging Het
Zfyve28 A C 5: 34,390,698 (GRCm39) Y188D probably damaging Het
Other mutations in Taf1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Taf1c APN 8 120,328,067 (GRCm39) missense possibly damaging 0.80
IGL01098:Taf1c APN 8 120,329,580 (GRCm39) missense probably damaging 0.98
IGL01287:Taf1c APN 8 120,327,931 (GRCm39) missense probably benign 0.01
IGL02339:Taf1c APN 8 120,331,019 (GRCm39) missense probably damaging 1.00
IGL02642:Taf1c APN 8 120,325,796 (GRCm39) missense probably benign
IGL02954:Taf1c APN 8 120,327,225 (GRCm39) missense probably damaging 1.00
R0026:Taf1c UTSW 8 120,330,975 (GRCm39) splice site probably null
R0031:Taf1c UTSW 8 120,325,829 (GRCm39) missense probably benign 0.00
R0087:Taf1c UTSW 8 120,327,726 (GRCm39) missense probably damaging 1.00
R0197:Taf1c UTSW 8 120,326,722 (GRCm39) missense probably damaging 0.98
R0701:Taf1c UTSW 8 120,326,722 (GRCm39) missense probably damaging 0.98
R0883:Taf1c UTSW 8 120,326,722 (GRCm39) missense probably damaging 0.98
R2200:Taf1c UTSW 8 120,325,417 (GRCm39) missense probably benign
R3726:Taf1c UTSW 8 120,329,809 (GRCm39) missense probably damaging 1.00
R3765:Taf1c UTSW 8 120,327,224 (GRCm39) nonsense probably null
R3916:Taf1c UTSW 8 120,327,244 (GRCm39) missense probably damaging 1.00
R4368:Taf1c UTSW 8 120,326,055 (GRCm39) missense possibly damaging 0.60
R4470:Taf1c UTSW 8 120,326,361 (GRCm39) missense probably benign
R4501:Taf1c UTSW 8 120,326,168 (GRCm39) missense probably damaging 1.00
R4661:Taf1c UTSW 8 120,325,589 (GRCm39) missense probably damaging 0.99
R4741:Taf1c UTSW 8 120,330,134 (GRCm39) unclassified probably benign
R5481:Taf1c UTSW 8 120,325,979 (GRCm39) missense probably damaging 1.00
R6335:Taf1c UTSW 8 120,328,518 (GRCm39) missense probably damaging 1.00
R6517:Taf1c UTSW 8 120,330,986 (GRCm39) missense possibly damaging 0.59
R7083:Taf1c UTSW 8 120,327,407 (GRCm39) missense probably damaging 1.00
R7351:Taf1c UTSW 8 120,325,739 (GRCm39) missense probably damaging 0.97
R8056:Taf1c UTSW 8 120,330,202 (GRCm39) missense probably benign 0.13
R8170:Taf1c UTSW 8 120,329,565 (GRCm39) splice site probably null
R8279:Taf1c UTSW 8 120,325,750 (GRCm39) missense probably benign
R8382:Taf1c UTSW 8 120,329,789 (GRCm39) missense probably damaging 1.00
R8492:Taf1c UTSW 8 120,325,456 (GRCm39) missense probably benign 0.13
R9375:Taf1c UTSW 8 120,325,393 (GRCm39) missense probably damaging 0.99
Z1177:Taf1c UTSW 8 120,325,566 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTCAGAAGCCCATTCGTGG -3'
(R):5'- CTTGACAGAAGCCTGGGAAG -3'

Sequencing Primer
(F):5'- AAGCCCATTCGTGGCTTCTTC -3'
(R):5'- TGCCTGGTGGAGGAGACATC -3'
Posted On 2016-04-27