Incidental Mutation 'R1119:Gtf3c3'
ID 97653
Institutional Source Beutler Lab
Gene Symbol Gtf3c3
Ensembl Gene ENSMUSG00000041303
Gene Name general transcription factor IIIC, polypeptide 3
Synonyms
MMRRC Submission 039192-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1119 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 54435163-54478130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54456937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 488 (A488T)
Ref Sequence ENSEMBL: ENSMUSP00000039420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041638]
AlphaFold Q3TMP1
Predicted Effect probably damaging
Transcript: ENSMUST00000041638
AA Change: A488T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039420
Gene: ENSMUSG00000041303
AA Change: A488T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190419
Meta Mutation Damage Score 0.6542 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 100% (51/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A C 7: 82,189,525 (GRCm39) E583A probably damaging Het
Aoah T A 13: 21,099,108 (GRCm39) probably benign Het
Atf7ip2 A G 16: 10,058,476 (GRCm39) K305R possibly damaging Het
Bltp1 T G 3: 37,041,194 (GRCm39) V2524G probably damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Cfap57 G A 4: 118,463,873 (GRCm39) Q327* probably null Het
Ckap2l A T 2: 129,114,492 (GRCm39) probably benign Het
Cul2 A G 18: 3,419,335 (GRCm39) probably benign Het
Ddx60 G A 8: 62,395,578 (GRCm39) V172M probably damaging Het
Drp2 T C X: 133,342,071 (GRCm39) L545P probably damaging Het
Ezh1 A G 11: 101,101,361 (GRCm39) probably benign Het
Gipc2 A G 3: 151,799,833 (GRCm39) F299S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Hikeshi A G 7: 89,584,938 (GRCm39) S89P probably benign Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Larp1b C A 3: 40,987,963 (GRCm39) R62S possibly damaging Het
Lgr5 A T 10: 115,296,716 (GRCm39) probably null Het
Lpin1 C A 12: 16,613,722 (GRCm39) D449Y probably damaging Het
Macrod2 A T 2: 140,242,826 (GRCm39) I31L probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Ndufa9 A T 6: 126,799,031 (GRCm39) L362Q probably damaging Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Nxpe5 G A 5: 138,237,658 (GRCm39) D61N probably benign Het
Ogdh T A 11: 6,290,544 (GRCm39) H376Q probably damaging Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb14 G A 18: 37,581,640 (GRCm39) V249M probably damaging Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pik3r6 C T 11: 68,436,698 (GRCm39) T654I probably benign Het
Rptn A G 3: 93,303,552 (GRCm39) Y295C possibly damaging Het
Sec16b A G 1: 157,392,404 (GRCm39) D924G possibly damaging Het
Setd1b C A 5: 123,285,779 (GRCm39) T275K unknown Het
Sgcb T A 5: 73,801,757 (GRCm39) K36I probably damaging Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stab2 T C 10: 86,695,619 (GRCm39) D599G possibly damaging Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tax1bp1 C A 6: 52,718,933 (GRCm39) probably benign Het
Thnsl1 A G 2: 21,217,857 (GRCm39) N16S probably damaging Het
Ticrr C T 7: 79,343,701 (GRCm39) P1189S probably benign Het
Tnxb G A 17: 34,904,017 (GRCm39) V1053M probably damaging Het
Tpp2 T C 1: 44,031,556 (GRCm39) probably null Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Vmn2r60 A T 7: 41,844,365 (GRCm39) Q576L possibly damaging Het
Zfp62 G T 11: 49,107,517 (GRCm39) R536L probably damaging Het
Zfp958 A T 8: 4,676,169 (GRCm39) N46Y 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
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
R8449: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'- GCCATGCAAGCCTAAAGACCTGAG -3'
(R):5'- AGGATTGCAAATCAGTGAGGCTGTG -3'

Sequencing Primer
(F):5'- gaaggaccctgatgctcac -3'
(R):5'- TCAGTGAGGCTGTGTCATAAAG -3'
Posted On 2014-01-05