Incidental Mutation 'R6856:Gtf3c6'
ID 535265
Institutional Source Beutler Lab
Gene Symbol Gtf3c6
Ensembl Gene ENSMUSG00000019837
Gene Name general transcription factor IIIC, polypeptide 6, alpha
Synonyms 2410016F19Rik
MMRRC Submission 044958-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R6856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 40123697-40133708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40125668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 183 (E183G)
Ref Sequence ENSEMBL: ENSMUSP00000019982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019982] [ENSMUST00000045114] [ENSMUST00000181995] [ENSMUST00000183052] [ENSMUST00000183114] [ENSMUST00000183309] [ENSMUST00000213628] [ENSMUST00000216847] [ENSMUST00000217141] [ENSMUST00000217537]
AlphaFold Q9D8P7
Predicted Effect probably benign
Transcript: ENSMUST00000019982
AA Change: E183G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000019982
Gene: ENSMUSG00000019837
AA Change: E183G

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 benign
Transcript: ENSMUST00000213628
AA Change: E120G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216847
Predicted Effect probably benign
Transcript: ENSMUST00000217141
Predicted Effect probably benign
Transcript: ENSMUST00000217537
AA Change: E182G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,205,755 (GRCm39) M156V probably benign Het
Aire A T 10: 77,866,089 (GRCm39) F546I probably damaging Het
Ankk1 T C 9: 49,331,320 (GRCm39) E230G probably benign Het
Anp32a A T 9: 62,279,397 (GRCm39) K86N possibly damaging Het
Aqp4 T C 18: 15,532,953 (GRCm39) I47V possibly damaging Het
Arap3 A G 18: 38,112,916 (GRCm39) V1098A possibly damaging Het
Ascc3 T A 10: 50,625,158 (GRCm39) W1652R probably damaging Het
Atad2 T A 15: 57,970,209 (GRCm39) H464L probably damaging Het
Brca2 C A 5: 150,463,673 (GRCm39) H1146N possibly damaging Het
Capn9 G A 8: 125,324,308 (GRCm39) V203M probably damaging Het
Ccr6 T A 17: 8,474,881 (GRCm39) S29T probably benign Het
Cfap99 G T 5: 34,467,561 (GRCm39) probably null Het
Cpt1c C T 7: 44,609,342 (GRCm39) G716S probably damaging Het
Dhx29 A T 13: 113,089,395 (GRCm39) Q722L probably benign Het
Dmxl1 C T 18: 49,985,355 (GRCm39) R201* probably null Het
Dsg2 G A 18: 20,734,859 (GRCm39) G946S probably damaging Het
Erg C A 16: 95,169,510 (GRCm39) probably null Het
Fbxo32 G A 15: 58,078,037 (GRCm39) probably benign Het
Gask1b G T 3: 79,793,448 (GRCm39) probably benign Het
Glis1 T G 4: 107,293,076 (GRCm39) D66E probably damaging Het
Grm6 A T 11: 50,750,652 (GRCm39) N605I probably damaging Het
Herc1 A G 9: 66,305,180 (GRCm39) M861V probably benign Het
Igkv12-41 A T 6: 69,835,513 (GRCm39) S80T probably damaging Het
Itprid2 C T 2: 79,488,049 (GRCm39) R711C probably damaging Het
Kcnt2 T C 1: 140,523,742 (GRCm39) S1057P probably damaging Het
Krt36 T G 11: 99,994,216 (GRCm39) Q287P probably damaging Het
Ldhd A G 8: 112,356,906 (GRCm39) S13P probably benign Het
Lmtk3 T A 7: 45,443,721 (GRCm39) probably benign Het
Lrp2 A T 2: 69,343,612 (GRCm39) F916I probably damaging Het
Map4k1 A T 7: 28,686,259 (GRCm39) I92F probably damaging Het
Naa25 A T 5: 121,576,867 (GRCm39) K872M probably damaging Het
Nek3 C A 8: 22,619,463 (GRCm39) G443V probably damaging Het
Noxred1 T C 12: 87,273,810 (GRCm39) E77G probably benign Het
Nup210 G A 6: 91,064,895 (GRCm39) Q202* probably null Het
Or52d1 A T 7: 103,755,998 (GRCm39) M171L probably benign Het
Or8k27 G T 2: 86,276,251 (GRCm39) S25Y probably benign Het
Pax3 A G 1: 78,109,056 (GRCm39) S201P probably damaging Het
Pcdhgb5 T A 18: 37,866,457 (GRCm39) Y751N probably benign Het
Pign A T 1: 105,481,620 (GRCm39) L792* probably null Het
Pkd1 T C 17: 24,792,467 (GRCm39) F1385L probably benign Het
Plxnb2 A C 15: 89,048,523 (GRCm39) C629G probably benign Het
Prpsap2 A T 11: 61,621,097 (GRCm39) I328N probably benign Het
Prrc2c A G 1: 162,509,940 (GRCm39) L2317P probably damaging Het
Ptgfrn T C 3: 100,952,762 (GRCm39) D824G probably damaging Het
Ptpra G A 2: 130,361,301 (GRCm39) S204N probably damaging Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Rap1a A G 3: 105,639,384 (GRCm39) F92L probably damaging Het
Slmap A T 14: 26,151,247 (GRCm39) probably null Het
Spdye4c A G 2: 128,438,050 (GRCm39) probably null Het
Speer4a3 A G 5: 26,155,843 (GRCm39) I167T probably benign Het
Stk11 C A 10: 79,963,924 (GRCm39) F97L probably benign Het
Tbc1d9b G A 11: 50,059,573 (GRCm39) A992T probably benign Het
Tmem232 G A 17: 65,757,305 (GRCm39) T296M possibly damaging Het
Trim33 C T 3: 103,259,365 (GRCm39) T1018M probably damaging Het
Trpv2 A C 11: 62,475,441 (GRCm39) I285L probably benign Het
Usp46 A G 5: 74,189,595 (GRCm39) probably benign Het
Vmn1r27 T A 6: 58,192,432 (GRCm39) M191L possibly damaging Het
Vwf G T 6: 125,619,113 (GRCm39) E1264* probably null Het
Zfp109 A T 7: 23,928,823 (GRCm39) N195K probably benign Het
Zfp385b T A 2: 77,246,138 (GRCm39) L208F probably damaging Het
Zfp839 T A 12: 110,833,195 (GRCm39) Y515* 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
R3442: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
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'- ACGTACCTGGAAACGCATACTG -3'
(R):5'- TTATCCCCGACCCCACTAGATG -3'

Sequencing Primer
(F):5'- CATACTGTCAAAATAACACGGGATG -3'
(R):5'- CCACTAGATGGCGTAGAGTGGC -3'
Posted On 2018-09-12