Incidental Mutation 'IGL03063:Gtf3c6'
ID409540
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: 0.862) question?
Stock #IGL03063
Quality Score
Status
Chromosome10
Chromosomal Location40247703-40258108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 40251159 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 66 (I66L)
Ref Sequence ENSEMBL: ENSMUSP00000148989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019982] [ENSMUST00000045114] [ENSMUST00000181995] [ENSMUST00000183052] [ENSMUST00000183114] [ENSMUST00000183309] [ENSMUST00000213628] [ENSMUST00000216847] [ENSMUST00000217141] [ENSMUST00000217537]
Predicted Effect probably benign
Transcript: ENSMUST00000019982
AA Change: I129L

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000019982
Gene: ENSMUSG00000019837
AA Change: I129L

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: I66L

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000216847
AA Change: I66L

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217141
AA Change: I66L

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217457
Predicted Effect probably benign
Transcript: ENSMUST00000217537
AA Change: I128L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 46,016,432 V255I probably benign Het
Arfgef2 T C 2: 166,859,782 probably benign Het
Bpifb2 A T 2: 153,889,124 Q205L probably damaging Het
Ccdc30 C T 4: 119,349,767 R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,354,877 probably null Het
Comtd1 A G 14: 21,847,667 probably null Het
Dao T C 5: 114,021,015 C261R probably damaging Het
Dner A G 1: 84,585,338 V187A possibly damaging Het
Dsg3 T C 18: 20,533,368 probably benign Het
Eif3j2 A G 18: 43,477,379 L123P possibly damaging Het
Esf1 G A 2: 140,154,786 probably benign Het
Exo5 G A 4: 120,921,633 T345I possibly damaging Het
Fancl A T 11: 26,387,299 I29F probably damaging Het
Gadl1 C T 9: 115,966,267 H313Y probably damaging Het
Gm17190 G A 13: 96,082,762 probably benign Het
Gtf3c1 G T 7: 125,646,503 T1580N possibly damaging Het
Hhla1 A G 15: 65,941,790 I231T probably damaging Het
Hk2 A G 6: 82,739,649 Y273H probably damaging Het
Hk2 A G 6: 82,749,232 I83T probably benign Het
Ifit1 T C 19: 34,648,004 V180A possibly damaging Het
Igkv9-129 A T 6: 67,840,188 D92V probably damaging Het
Lrrc1 A G 9: 77,499,269 F36S probably damaging Het
Man1b1 A G 2: 25,334,404 E102G possibly damaging Het
Myh8 A G 11: 67,288,205 S475G probably benign Het
Olfr593 T A 7: 103,212,634 V247D probably damaging Het
Otud4 T A 8: 79,663,790 M343K probably benign Het
Peg10 A T 6: 4,756,647 probably benign Het
Plet1 T A 9: 50,504,422 N197K probably benign Het
Ppp1r12a C T 10: 108,261,254 R243C probably damaging Het
Serpinb10 A T 1: 107,542,227 K146N possibly damaging Het
Sis A G 3: 72,928,297 F911L probably benign Het
Spon1 G A 7: 114,033,025 V528M possibly damaging Het
Tdrd9 T C 12: 112,044,299 V1100A probably benign Het
Tmtc3 T C 10: 100,447,606 M696V probably benign Het
Triobp A G 15: 78,990,884 E122G probably damaging Het
Wt1 G A 2: 105,170,023 probably null Het
Other mutations in Gtf3c6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Gtf3c6 APN 10 40254474 splice site probably benign
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 On2016-08-02