Incidental Mutation 'R3442:Gtf3c6'
ID 267424
Institutional Source Beutler Lab
Gene Symbol Gtf3c6
Ensembl Gene ENSMUSG00000019837
Gene Name general transcription factor IIIC, polypeptide 6, alpha
Synonyms 2410016F19Rik
MMRRC Submission 040660-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R3442 (G1)
Quality Score 212
Status Validated
Chromosome 10
Chromosomal Location 40123697-40133708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40127169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 123 (E123V)
Ref Sequence ENSEMBL: ENSMUSP00000151091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019982] [ENSMUST00000045114] [ENSMUST00000181995] [ENSMUST00000183052] [ENSMUST00000183114] [ENSMUST00000183309] [ENSMUST00000213628] [ENSMUST00000216847] [ENSMUST00000217141] [ENSMUST00000217537]
AlphaFold Q9D8P7
Predicted Effect probably null
Transcript: ENSMUST00000019982
AA Change: E124V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019982
Gene: ENSMUSG00000019837
AA Change: E124V

DomainStartEndE-ValueType
low complexity region 16 35 N/A INTRINSIC
Pfam:TFIIIC_sub6 51 84 7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045114
SMART Domains Protein: ENSMUSP00000035456
Gene: ENSMUSG00000038510

DomainStartEndE-ValueType
Brix 1 195 3.25e-51 SMART
low complexity region 208 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181995
SMART Domains Protein: ENSMUSP00000138425
Gene: ENSMUSG00000038510

DomainStartEndE-ValueType
Brix 34 202 8.11e-29 SMART
low complexity region 215 226 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183052
SMART Domains Protein: ENSMUSP00000138646
Gene: ENSMUSG00000038510

DomainStartEndE-ValueType
Brix 34 175 6.08e-10 SMART
low complexity region 188 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183114
SMART Domains Protein: ENSMUSP00000138750
Gene: ENSMUSG00000038510

DomainStartEndE-ValueType
Brix 3 149 1.26e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183309
SMART Domains Protein: ENSMUSP00000138581
Gene: ENSMUSG00000038510

DomainStartEndE-ValueType
Brix 34 228 3.25e-51 SMART
low complexity region 241 252 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000213628
AA Change: E61V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000216847
AA Change: E61V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000217141
AA Change: E61V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000217537
AA Change: E123V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217457
Meta Mutation Damage Score 0.3792 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (34/34)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,583 (GRCm39) Y26* probably null Het
Adam30 T C 3: 98,069,886 (GRCm39) I573T probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cav3 G A 6: 112,449,402 (GRCm39) C140Y possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap91 T C 16: 38,154,168 (GRCm39) M126V probably benign Het
Dbt T A 3: 116,341,840 (GRCm39) D480E probably benign Het
Dmbt1 G A 7: 130,707,979 (GRCm39) C1407Y probably damaging Het
Frem3 C T 8: 81,339,669 (GRCm39) P654L probably damaging Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gpx1 C G 9: 108,216,549 (GRCm39) T13S probably benign Het
Grik3 C A 4: 125,587,763 (GRCm39) L628M probably damaging Het
Grik3 T A 4: 125,587,764 (GRCm39) L628Q probably damaging Het
Gsap A G 5: 21,483,125 (GRCm39) Y610C probably damaging Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Msmb A G 14: 31,872,173 (GRCm39) N55D probably benign Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Mynn T C 3: 30,667,712 (GRCm39) F471L probably damaging Het
Or9i2 T C 19: 13,816,370 (GRCm39) T56A possibly damaging Het
Otof T C 5: 30,529,033 (GRCm39) R1792G probably damaging Het
Sil1 A T 18: 35,458,449 (GRCm39) L182H probably damaging Het
Sla C T 15: 66,655,509 (GRCm39) G210D probably benign Het
Slc26a7 C T 4: 14,565,511 (GRCm39) V191M probably benign Het
Trrap A G 5: 144,729,062 (GRCm39) M659V probably benign Het
Ubxn6 G T 17: 56,376,049 (GRCm39) Q371K probably benign Het
Zfat A T 15: 67,956,402 (GRCm39) D1143E probably benign Het
Zfat C T 15: 67,973,430 (GRCm39) A1122T probably damaging Het
Zfp950 A T 19: 61,107,170 (GRCm39) C149* probably null Het
Other mutations in Gtf3c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Gtf3c6 APN 10 40,130,470 (GRCm39) splice site probably benign
IGL03063:Gtf3c6 APN 10 40,127,155 (GRCm39) missense probably benign 0.41
IGL03178:Gtf3c6 APN 10 40,125,718 (GRCm39) missense probably benign 0.01
Drumpf UTSW 10 40,127,169 (GRCm39) missense probably null 1.00
R2850:Gtf3c6 UTSW 10 40,130,254 (GRCm39) splice site probably benign
R3440:Gtf3c6 UTSW 10 40,127,169 (GRCm39) missense probably null 1.00
R3441:Gtf3c6 UTSW 10 40,127,169 (GRCm39) missense probably null 1.00
R3842:Gtf3c6 UTSW 10 40,130,317 (GRCm39) splice site probably null
R6529:Gtf3c6 UTSW 10 40,127,251 (GRCm39) missense probably benign 0.00
R6856:Gtf3c6 UTSW 10 40,125,668 (GRCm39) missense probably benign 0.00
R6996:Gtf3c6 UTSW 10 40,125,774 (GRCm39) missense probably benign 0.45
R8139:Gtf3c6 UTSW 10 40,133,469 (GRCm39) splice site probably null
R9398:Gtf3c6 UTSW 10 40,133,520 (GRCm39) intron probably benign
X0017:Gtf3c6 UTSW 10 40,127,273 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GGTGCTCATGTCAATGTGTC -3'
(R):5'- GGAACTTCCTGTGCTGTTCC -3'

Sequencing Primer
(F):5'- AATGTGTCATAGCTCACTCTGG -3'
(R):5'- TCCCATAGGAAGTAGTTGAGACTAAC -3'
Posted On 2015-02-18