Incidental Mutation 'R8449:Gtf3c3'
ID 654643
Institutional Source Beutler Lab
Gene Symbol Gtf3c3
Ensembl Gene ENSMUSG00000041303
Gene Name general transcription factor IIIC, polypeptide 3
Synonyms
MMRRC Submission 067829-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R8449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 54435163-54478130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54468068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 190 (E190K)
Ref Sequence ENSEMBL: ENSMUSP00000039420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041638]
AlphaFold Q3TMP1
Predicted Effect probably damaging
Transcript: ENSMUST00000041638
AA Change: E190K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039420
Gene: ENSMUSG00000041303
AA Change: E190K

DomainStartEndE-ValueType
low complexity region 18 34 N/A INTRINSIC
low complexity region 92 108 N/A INTRINSIC
TPR 145 178 9.24e1 SMART
TPR 179 212 2.36e1 SMART
TPR 213 246 4.58e-4 SMART
TPR 247 280 6.4e1 SMART
Blast:TPR 286 319 6e-9 BLAST
low complexity region 353 365 N/A INTRINSIC
TPR 452 485 1.87e1 SMART
low complexity region 549 560 N/A INTRINSIC
TPR 807 840 3.27e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A G 11: 105,885,768 (GRCm39) E58G probably damaging Het
Ank1 T A 8: 23,629,302 (GRCm39) F4I possibly damaging Het
Arih2 T C 9: 108,488,872 (GRCm39) D282G possibly damaging Het
Atp7b C T 8: 22,503,556 (GRCm39) V733I probably damaging Het
Avil A G 10: 126,845,861 (GRCm39) D370G probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdkl3 A G 11: 51,975,260 (GRCm39) H74R Het
Clec9a C A 6: 129,387,292 (GRCm39) A49E probably damaging Het
Cntn5 A G 9: 9,666,840 (GRCm39) probably null Het
Cyp11b2 A G 15: 74,723,428 (GRCm39) M412T possibly damaging Het
Dhrs7l T C 12: 72,659,340 (GRCm39) N145D probably damaging Het
Dync1i1 A G 6: 5,966,815 (GRCm39) Q399R possibly damaging Het
Fam47e C A 5: 92,702,990 (GRCm39) R21S probably benign Het
Gimap4 A G 6: 48,667,694 (GRCm39) I150V probably damaging Het
Gm7361 T A 5: 26,465,387 (GRCm39) M128K possibly damaging Het
Hells T C 19: 38,940,286 (GRCm39) S396P probably damaging Het
Hrg T A 16: 22,780,286 (GRCm39) S521R unknown Het
Itih5 A G 2: 10,191,800 (GRCm39) T112A probably benign Het
Ly9 T A 1: 171,421,586 (GRCm39) N555I probably damaging Het
Morc2b C T 17: 33,355,775 (GRCm39) E666K probably benign Het
Mup8 C A 4: 60,222,382 (GRCm39) V30L probably benign Het
Nebl T A 2: 17,418,593 (GRCm39) E268D probably damaging Het
Nr4a3 G T 4: 48,052,170 (GRCm39) R308L probably benign Het
Or10k2 A T 8: 84,268,301 (GRCm39) H176L probably damaging Het
Or14j1 A G 17: 38,146,561 (GRCm39) R224G probably damaging Het
Or4c10 A T 2: 89,760,878 (GRCm39) I242L possibly damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Or8k33 T G 2: 86,383,980 (GRCm39) I163L probably benign Het
Plcd3 A G 11: 102,965,496 (GRCm39) Y530H probably damaging Het
Pou2af1 A T 9: 51,144,326 (GRCm39) E80V probably damaging Het
Scgb2b18 C T 7: 32,872,656 (GRCm39) D50N probably benign Het
Shisa6 G C 11: 66,416,556 (GRCm39) Q79E probably benign Het
Sis C T 3: 72,810,984 (GRCm39) G1679D probably damaging Het
Sorcs2 A T 5: 36,386,519 (GRCm39) M173K possibly damaging Het
Ston2 T C 12: 91,608,649 (GRCm39) D817G probably damaging Het
Ticrr T A 7: 79,344,428 (GRCm39) F1431Y probably benign Het
Uevld T A 7: 46,595,055 (GRCm39) N179I probably damaging Het
Utp6 G T 11: 79,836,610 (GRCm39) Q375K probably benign Het
Vmn2r68 T A 7: 84,882,785 (GRCm39) E322D probably damaging Het
Wnt5a A G 14: 28,235,108 (GRCm39) M51V probably benign Het
Zfp202 A T 9: 40,118,976 (GRCm39) R130* probably null Het
Zfp949 G T 9: 88,449,302 (GRCm39) V36L possibly damaging Het
Other mutations in Gtf3c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Gtf3c3 APN 1 54,455,114 (GRCm39) missense probably damaging 0.99
IGL00435:Gtf3c3 APN 1 54,466,694 (GRCm39) missense possibly damaging 0.73
IGL01128:Gtf3c3 APN 1 54,468,035 (GRCm39) missense possibly damaging 0.91
R0243:Gtf3c3 UTSW 1 54,442,695 (GRCm39) missense possibly damaging 0.60
R0271:Gtf3c3 UTSW 1 54,467,971 (GRCm39) missense possibly damaging 0.96
R0571:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R0965:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R0968:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1069:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1070:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1111:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1112:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1113:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1114:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1115:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1117:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1118:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1119:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1228:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1230:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1231:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1313:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1313:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1382:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1394:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1395:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1397:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1414:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1430:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1432:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1473:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1497:Gtf3c3 UTSW 1 54,477,098 (GRCm39) missense probably benign
R1556:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1563:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1638:Gtf3c3 UTSW 1 54,444,278 (GRCm39) missense probably damaging 1.00
R1695:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1716:Gtf3c3 UTSW 1 54,438,419 (GRCm39) missense probably damaging 1.00
R1745:Gtf3c3 UTSW 1 54,473,371 (GRCm39) missense probably damaging 1.00
R1767:Gtf3c3 UTSW 1 54,456,937 (GRCm39) missense probably damaging 1.00
R1799:Gtf3c3 UTSW 1 54,459,583 (GRCm39) missense possibly damaging 0.82
R1861:Gtf3c3 UTSW 1 54,477,997 (GRCm39) missense possibly damaging 0.87
R1940:Gtf3c3 UTSW 1 54,468,117 (GRCm39) splice site probably benign
R3804:Gtf3c3 UTSW 1 54,463,166 (GRCm39) critical splice donor site probably null
R4496:Gtf3c3 UTSW 1 54,463,291 (GRCm39) missense probably benign 0.03
R4621:Gtf3c3 UTSW 1 54,458,575 (GRCm39) missense probably damaging 1.00
R5131:Gtf3c3 UTSW 1 54,458,657 (GRCm39) splice site probably null
R5320:Gtf3c3 UTSW 1 54,445,032 (GRCm39) missense probably damaging 1.00
R5605:Gtf3c3 UTSW 1 54,455,085 (GRCm39) missense probably benign 0.06
R5854:Gtf3c3 UTSW 1 54,458,596 (GRCm39) missense probably benign 0.01
R6050:Gtf3c3 UTSW 1 54,445,229 (GRCm39) missense probably benign 0.00
R6441:Gtf3c3 UTSW 1 54,445,197 (GRCm39) missense probably benign 0.03
R6892:Gtf3c3 UTSW 1 54,455,100 (GRCm39) missense probably benign 0.00
R7114:Gtf3c3 UTSW 1 54,462,666 (GRCm39) missense probably benign
R7299:Gtf3c3 UTSW 1 54,456,867 (GRCm39) missense probably benign 0.01
R7441:Gtf3c3 UTSW 1 54,459,607 (GRCm39) missense probably benign 0.00
R7586:Gtf3c3 UTSW 1 54,442,752 (GRCm39) missense probably damaging 1.00
R7615:Gtf3c3 UTSW 1 54,462,731 (GRCm39) missense possibly damaging 0.49
R7634:Gtf3c3 UTSW 1 54,458,800 (GRCm39) splice site probably null
R7739:Gtf3c3 UTSW 1 54,444,198 (GRCm39) missense possibly damaging 0.94
R8349:Gtf3c3 UTSW 1 54,468,068 (GRCm39) missense probably damaging 1.00
R8755:Gtf3c3 UTSW 1 54,468,031 (GRCm39) missense probably benign
R8955:Gtf3c3 UTSW 1 54,462,722 (GRCm39) missense probably benign 0.00
R9290:Gtf3c3 UTSW 1 54,477,997 (GRCm39) missense possibly damaging 0.87
R9353:Gtf3c3 UTSW 1 54,445,211 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- CTAATGACCCATTGTGTAACACC -3'
(R):5'- TAGGTAGCAAGAGTCCATCCC -3'

Sequencing Primer
(F):5'- ACCCATTGTGTAACACCTAATAAAAC -3'
(R):5'- ACCAGCTTAAGCCTATTCT -3'
Posted On 2020-10-20