Incidental Mutation 'R1118:Gtf3c3'
ID 97477
Institutional Source Beutler Lab
Gene Symbol Gtf3c3
Ensembl Gene ENSMUSG00000041303
Gene Name general transcription factor IIIC, polypeptide 3
Synonyms
MMRRC Submission 039191-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1118 (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: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apcdd1 A G 18: 63,085,095 (GRCm39) T431A probably benign Het
Bcan T A 3: 87,896,534 (GRCm39) I721F probably damaging Het
Card10 T C 15: 78,686,643 (GRCm39) D58G possibly damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Celsr1 T C 15: 85,916,248 (GRCm39) D575G probably damaging Het
Ces1f A G 8: 93,993,870 (GRCm39) probably benign Het
Cped1 A T 6: 22,237,698 (GRCm39) H938L probably benign Het
Creld1 A G 6: 113,468,656 (GRCm39) D259G probably benign Het
Cubn T C 2: 13,341,053 (GRCm39) I2223V possibly damaging Het
Dop1a A G 9: 86,397,459 (GRCm39) D921G probably damaging Het
Dusp7 T C 9: 106,250,849 (GRCm39) S325P possibly damaging Het
Fat4 A T 3: 39,037,091 (GRCm39) D3581V possibly damaging Het
Fhl3 T C 4: 124,599,584 (GRCm39) probably null Het
Gap43 T C 16: 42,112,167 (GRCm39) E198G probably benign Het
Garin4 G A 1: 190,896,682 (GRCm39) probably benign Het
Grina T C 15: 76,132,779 (GRCm39) F182S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Haus6 A G 4: 86,503,563 (GRCm39) probably null Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itih4 C A 14: 30,618,124 (GRCm39) probably benign Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Kif22 A G 7: 126,631,916 (GRCm39) S384P probably benign Het
Lbr A C 1: 181,648,233 (GRCm39) probably benign Het
Mei1 G A 15: 82,000,068 (GRCm39) probably benign Het
Misp T C 10: 79,662,969 (GRCm39) V462A probably benign Het
Mrgpra3 A C 7: 47,239,039 (GRCm39) L296V possibly 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
Or4f14 T A 2: 111,743,222 (GRCm39) T18S probably benign Het
Otud4 C T 8: 80,379,980 (GRCm39) probably benign Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb15 T A 18: 37,606,815 (GRCm39) F16I probably benign Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pdxdc1 T A 16: 13,697,278 (GRCm39) probably benign Het
Pgc T A 17: 48,039,828 (GRCm39) probably null Het
Phf11a T C 14: 59,521,778 (GRCm39) D131G probably benign Het
Prdm2 G A 4: 142,858,953 (GRCm39) H1446Y possibly damaging Het
Rad54b T C 4: 11,563,352 (GRCm39) S4P probably damaging Het
Slc52a2 T C 15: 76,423,808 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,623,490 (GRCm39) probably benign Het
Smad4 T C 18: 73,773,333 (GRCm39) D551G probably benign Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Sspo A G 6: 48,436,352 (GRCm39) Y1234C probably damaging Het
Stab2 A T 10: 86,721,582 (GRCm39) probably null Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Stmn4 T G 14: 66,591,844 (GRCm39) probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tex14 A T 11: 87,413,343 (GRCm39) R1031S probably benign Het
Tia1 G A 6: 86,396,091 (GRCm39) V96I probably benign 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
Trpm7 A G 2: 126,664,406 (GRCm39) M991T possibly damaging Het
Ttc3 T A 16: 94,217,127 (GRCm39) probably benign Het
Vcan G A 13: 89,853,782 (GRCm39) P393S probably damaging Het
Vmn2r107 G A 17: 20,576,860 (GRCm39) R286Q probably benign Het
Wdr87-ps G A 7: 29,233,669 (GRCm39) noncoding transcript Het
Wrap73 A T 4: 154,236,884 (GRCm39) probably null 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
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
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'- TGATCTGCCATGCAAGCCTAAAGAC -3'
(R):5'- AGGATTGCAAATCAGTGAGGCTGTG -3'

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