Incidental Mutation 'R5605:Gtf3c3'
ID 439223
Institutional Source Beutler Lab
Gene Symbol Gtf3c3
Ensembl Gene ENSMUSG00000041303
Gene Name general transcription factor IIIC, polypeptide 3
Synonyms
MMRRC Submission 043270-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5605 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 54435163-54478130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54455085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 593 (S593T)
Ref Sequence ENSEMBL: ENSMUSP00000039420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041638]
AlphaFold Q3TMP1
Predicted Effect probably benign
Transcript: ENSMUST00000041638
AA Change: S593T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039420
Gene: ENSMUSG00000041303
AA Change: S593T

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 0.0574 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,575,425 (GRCm39) G83* probably null Het
Arap2 A T 5: 62,772,410 (GRCm39) M1476K possibly damaging Het
Catsper2 G A 2: 121,227,533 (GRCm39) R546C possibly damaging Het
Ceacam5 T C 7: 17,481,161 (GRCm39) F303L probably benign Het
Clvs1 A G 4: 9,281,751 (GRCm39) D65G probably damaging Het
Coq5 T C 5: 115,421,776 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,168,699 (GRCm39) V950E probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dnah7c A G 1: 46,837,395 (GRCm39) D3936G possibly damaging Het
Doc2b T C 11: 75,662,786 (GRCm39) E404G probably damaging Het
Dsg1b C T 18: 20,532,596 (GRCm39) P547S probably benign Het
Eif1ad17 T A 12: 87,978,768 (GRCm39) C51S probably damaging Het
Erich6 A G 3: 58,532,540 (GRCm39) Y356H probably damaging Het
Galnt6 C T 15: 100,595,106 (GRCm39) R465Q probably damaging Het
Gbp5 T C 3: 142,207,037 (GRCm39) S69P probably damaging Het
Gdpd4 T C 7: 97,655,507 (GRCm39) V562A probably benign Het
Greb1 A T 12: 16,758,727 (GRCm39) V663D probably damaging Het
H2-Eb1 T C 17: 34,528,807 (GRCm39) S113P probably benign Het
Herc3 C T 6: 58,834,712 (GRCm39) R240C probably damaging Het
Iqub T C 6: 24,505,620 (GRCm39) D96G probably benign Het
Irag1 C T 7: 110,545,209 (GRCm39) C29Y possibly damaging Het
Kcnt2 A T 1: 140,502,481 (GRCm39) E858D possibly damaging Het
Lcor T A 19: 41,571,302 (GRCm39) I165N probably damaging Het
Lrp2 C T 2: 69,353,643 (GRCm39) R539K probably damaging Het
Lrrc10 C A 10: 116,881,805 (GRCm39) P160T probably damaging Het
Map3k12 G T 15: 102,412,300 (GRCm39) D280E probably benign Het
Mcub T C 3: 129,710,658 (GRCm39) E258G probably damaging Het
Mdn1 T C 4: 32,765,664 (GRCm39) S5208P probably benign Het
Med20 C A 17: 47,934,069 (GRCm39) probably benign Het
Mertk T C 2: 128,580,227 (GRCm39) V227A probably benign Het
Ncstn A G 1: 171,908,717 (GRCm39) probably benign Het
Nedd4l T C 18: 65,307,315 (GRCm39) probably null Het
Nfyc A G 4: 120,647,686 (GRCm39) probably benign Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nt5dc1 C T 10: 34,279,691 (GRCm39) C117Y probably benign Het
Nup88 A T 11: 70,834,896 (GRCm39) probably benign Het
Or6z7 C T 7: 6,483,325 (GRCm39) V277M probably benign Het
Pbrm1 T A 14: 30,757,949 (GRCm39) I193K probably benign Het
Pcsk2 T C 2: 143,591,165 (GRCm39) probably benign Het
Pdzd2 A T 15: 12,592,436 (GRCm39) C69* probably null Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Prima1 T A 12: 103,166,163 (GRCm39) I124F probably benign Het
Rbm34 T C 8: 127,676,169 (GRCm39) K382R probably benign Het
Rftn1 T G 17: 50,354,435 (GRCm39) N309T probably damaging Het
Septin1 C T 7: 126,814,598 (GRCm39) D260N probably damaging Het
Serpina3g T C 12: 104,207,299 (GRCm39) V154A probably damaging Het
Spef2 A T 15: 9,609,606 (GRCm39) N1306K probably damaging Het
Stk4 T C 2: 163,921,486 (GRCm39) F29S probably damaging Het
Stxbp5 A G 10: 9,645,490 (GRCm39) probably benign Het
Tbl3 T C 17: 24,919,733 (GRCm39) T774A probably benign Het
Tinag A G 9: 76,952,694 (GRCm39) Y97H probably damaging Het
Tpm1 T C 9: 66,956,317 (GRCm39) E33G probably damaging Het
Usp17lb T C 7: 104,489,847 (GRCm39) E359G probably benign Het
Vmn2r91 A G 17: 18,356,763 (GRCm39) E810G probably damaging Het
Vwce A T 19: 10,635,402 (GRCm39) T633S possibly damaging Het
Ylpm1 G A 12: 85,075,627 (GRCm39) R326H 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
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'- CGGCGCATATTATCTTTAGTGC -3'
(R):5'- GTTCATGCTACTCAGTGGGTC -3'

Sequencing Primer
(F):5'- CAGAAAAAGATCCAATGGGTATTTCC -3'
(R):5'- CATGCTACTCAGTGGGTCATCAG -3'
Posted On 2016-10-26