Incidental Mutation 'IGL00837:Gtf3c6'
ID11182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf3c6
Ensembl Gene ENSMUSG00000019837
Gene Namegeneral transcription factor IIIC, polypeptide 6, alpha
Synonyms2410016F19Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.903) question?
Stock #IGL00837
Quality Score
Status
Chromosome10
Chromosomal Location40247703-40258108 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 40254474 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151091 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019982] [ENSMUST00000213628] [ENSMUST00000216847] [ENSMUST00000217141] [ENSMUST00000217537]
Predicted Effect probably benign
Transcript: ENSMUST00000019982
SMART Domains Protein: ENSMUSP00000019982
Gene: ENSMUSG00000019837

DomainStartEndE-ValueType
low complexity region 16 35 N/A INTRINSIC
Pfam:TFIIIC_sub6 51 84 7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196710
Predicted Effect probably benign
Transcript: ENSMUST00000213628
Predicted Effect probably benign
Transcript: ENSMUST00000216847
Predicted Effect probably benign
Transcript: ENSMUST00000217141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217457
Predicted Effect probably benign
Transcript: ENSMUST00000217537
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,461,620 probably benign Het
Adig T A 2: 158,502,789 F16Y possibly damaging Het
Alox12e T C 11: 70,321,054 T210A probably benign Het
Ankfy1 T A 11: 72,755,898 probably benign Het
Aoc1 T A 6: 48,908,664 I701N possibly damaging Het
Armc1 A C 3: 19,144,420 N125K probably benign Het
Bcl2a1c A T 9: 114,330,492 T113S probably benign Het
Cdh10 A T 15: 19,013,404 I697L probably benign Het
Cep350 A T 1: 155,953,391 S256T probably damaging Het
Chd6 T C 2: 161,042,079 N82S probably benign Het
Gart T C 16: 91,638,720 probably benign Het
Igf1r T C 7: 68,201,352 probably benign Het
Mtmr6 T A 14: 60,280,217 Y92* probably null Het
Muc13 A T 16: 33,807,959 K360* probably null Het
Nfyc A G 4: 120,781,547 probably benign Het
Pole T A 5: 110,302,009 V774E possibly damaging Het
Rnf217 A G 10: 31,503,774 L484P probably damaging Het
Slc18a2 A T 19: 59,284,384 I373F probably benign Het
Slc5a9 A G 4: 111,893,690 probably benign Het
Tbc1d30 T C 10: 121,296,845 I205V probably damaging Het
Tfap2d A T 1: 19,119,206 D270V probably damaging Het
Tmem63c G A 12: 87,077,197 S483N probably benign Het
Tor1aip1 T A 1: 156,006,916 probably benign Het
Tsga10 A C 1: 37,801,911 probably benign Het
Ttc21b A T 2: 66,235,571 probably null Het
Wdr89 A T 12: 75,633,051 L143* probably null Het
Other mutations in Gtf3c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03063:Gtf3c6 APN 10 40251159 missense probably benign 0.41
IGL03178:Gtf3c6 APN 10 40249722 missense probably benign 0.01
Drumpf UTSW 10 40251173 missense probably null 1.00
R2850:Gtf3c6 UTSW 10 40254258 splice site probably benign
R3440:Gtf3c6 UTSW 10 40251173 missense probably null 1.00
R3441:Gtf3c6 UTSW 10 40251173 missense probably null 1.00
R3442:Gtf3c6 UTSW 10 40251173 missense probably null 1.00
R3842:Gtf3c6 UTSW 10 40254321 splice site probably null
R6529:Gtf3c6 UTSW 10 40251255 missense probably benign 0.00
R6856:Gtf3c6 UTSW 10 40249672 missense probably benign 0.00
R6996:Gtf3c6 UTSW 10 40249778 missense probably benign 0.45
X0017:Gtf3c6 UTSW 10 40251277 splice site probably null
Posted On2012-12-06