Incidental Mutation 'R5854:Gtf3c3'
ID 454797
Institutional Source Beutler Lab
Gene Symbol Gtf3c3
Ensembl Gene ENSMUSG00000041303
Gene Name general transcription factor IIIC, polypeptide 3
Synonyms
MMRRC Submission 043228-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5854 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 54435163-54478130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54458596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 442 (A442S)
Ref Sequence ENSEMBL: ENSMUSP00000039420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041638]
AlphaFold Q3TMP1
Predicted Effect probably benign
Transcript: ENSMUST00000041638
AA Change: A442S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000039420
Gene: ENSMUSG00000041303
AA Change: A442S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Atg4c G A 4: 99,116,796 (GRCm39) V313I probably benign Het
Ccdc18 A G 5: 108,354,594 (GRCm39) E1111G possibly damaging Het
Chuk T C 19: 44,070,396 (GRCm39) H573R probably benign Het
Cst13 A G 2: 148,670,094 (GRCm39) N88S probably benign Het
Dalrd3 T C 9: 108,447,276 (GRCm39) probably null Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dsp A G 13: 38,351,477 (GRCm39) probably null Het
Fbxo41 A G 6: 85,452,076 (GRCm39) L810P probably damaging Het
Fcrlb T C 1: 170,735,530 (GRCm39) Y248C probably damaging Het
Gmcl1 A G 6: 86,691,241 (GRCm39) silent Het
Hdac4 T C 1: 91,887,143 (GRCm39) S799G probably damaging Het
Hnrnpa2b1 C G 6: 51,443,589 (GRCm39) probably benign Het
Hnrnpab T C 11: 51,495,508 (GRCm39) E177G probably damaging Het
Knl1 A G 2: 118,900,884 (GRCm39) I862V probably benign Het
Lonp2 T A 8: 87,399,699 (GRCm39) probably null Het
Map3k19 G T 1: 127,758,092 (GRCm39) P363T probably damaging Het
Morn3 A G 5: 123,179,178 (GRCm39) Y91H probably damaging Het
Myom2 A G 8: 15,158,478 (GRCm39) D810G probably benign Het
Nans A G 4: 46,500,180 (GRCm39) Y188C probably damaging Het
Ndufs1 A T 1: 63,186,548 (GRCm39) D1E probably benign Het
Nelfb T C 2: 25,100,005 (GRCm39) N204S probably damaging Het
Noxo1 T C 17: 24,917,516 (GRCm39) S31P probably damaging Het
Or13a20 A G 7: 140,232,491 (GRCm39) M200V probably benign Het
Or5af1 T A 11: 58,722,382 (GRCm39) M134K probably damaging Het
Or8b50 T C 9: 38,517,959 (GRCm39) L66S probably damaging Het
Pkd1l2 T G 8: 117,792,485 (GRCm39) T436P possibly damaging Het
Pkhd1l1 A G 15: 44,445,186 (GRCm39) D3686G probably damaging Het
Ppp2r5b A G 19: 6,280,974 (GRCm39) L285S probably damaging Het
Pzp A T 6: 128,483,832 (GRCm39) V522D probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rpe65 A G 3: 159,321,313 (GRCm39) D375G probably benign Het
Sacs C T 14: 61,448,996 (GRCm39) L3681F probably damaging Het
Sft2d1 C T 17: 8,539,485 (GRCm39) T96I probably damaging Het
Slc12a7 A G 13: 73,942,059 (GRCm39) N312D probably benign Het
Spaca6 A T 17: 18,051,509 (GRCm39) K82* probably null Het
Stk32c A G 7: 138,768,195 (GRCm39) probably benign Het
Tet2 T A 3: 133,193,646 (GRCm39) N263Y probably damaging Het
Uxs1 T C 1: 43,819,233 (GRCm39) N190S probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably 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
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'- AGCACTCAGTAGTCTGGCAAG -3'
(R):5'- TGCTTCCTGGCTTATGTCAG -3'

Sequencing Primer
(F):5'- CGTGCTGGGAACATAAACT -3'
(R):5'- GGCTTATGTCAGGTAGCTGATAAAC -3'
Posted On 2017-02-10