Incidental Mutation 'R4247:Gtf3c5'
ID 320450
Institutional Source Beutler Lab
Gene Symbol Gtf3c5
Ensembl Gene ENSMUSG00000026816
Gene Name general transcription factor IIIC, polypeptide 5
Synonyms TFIIICepsilon, TFiiiC2-63, TFIIIC63, 2700084A09Rik
MMRRC Submission 041063-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4247 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 28456257-28473291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28461196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 306 (D306G)
Ref Sequence ENSEMBL: ENSMUSP00000109521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028157] [ENSMUST00000113889]
AlphaFold Q8R2T8
Predicted Effect probably damaging
Transcript: ENSMUST00000028157
AA Change: D306G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
AA Change: D306G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Tau95 23 322 2.8e-71 PFAM
coiled coil region 471 494 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113889
AA Change: D306G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
AA Change: D306G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Tau95 24 322 1.7e-85 PFAM
coiled coil region 477 500 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177012
Meta Mutation Damage Score 0.9514 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,195,626 (GRCm39) I305V probably benign Het
Aga T A 8: 53,964,865 (GRCm39) L9Q possibly damaging Het
Akna C T 4: 63,313,409 (GRCm39) G238D probably benign Het
Arhgap23 G A 11: 97,354,525 (GRCm39) E813K probably damaging Het
Atp13a2 T C 4: 140,719,539 (GRCm39) probably null Het
Atp8a1 C T 5: 67,824,917 (GRCm39) G820S probably damaging Het
Ccdc97 T G 7: 25,415,459 (GRCm39) H68P possibly damaging Het
Dclre1b A C 3: 103,711,400 (GRCm39) probably null Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fubp1 G A 3: 151,937,573 (GRCm39) A103T possibly damaging Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hsdl2 A T 4: 59,594,417 (GRCm39) N16I probably damaging Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Kif27 A G 13: 58,435,731 (GRCm39) V1354A probably damaging Het
Kif9 G T 9: 110,325,027 (GRCm39) probably null Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Lrrc24 A G 15: 76,602,176 (GRCm39) I193T possibly damaging Het
Or2bd2 A G 7: 6,441,901 (GRCm39) probably benign Het
Or52b1 T C 7: 104,979,355 (GRCm39) I15V probably benign Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Pramel52-ps A G 5: 94,531,446 (GRCm39) D110G possibly damaging Het
Ranbp2 A G 10: 58,314,686 (GRCm39) D1802G possibly damaging Het
Resf1 T A 6: 149,227,041 (GRCm39) M29K possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Scn11a C T 9: 119,636,952 (GRCm39) V250M probably damaging Het
Slitrk1 A G 14: 109,149,994 (GRCm39) V239A possibly damaging Het
Slitrk6 T A 14: 110,988,171 (GRCm39) D512V probably damaging Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Tamalin G T 15: 101,122,418 (GRCm39) R79L possibly damaging Het
Trp73 A G 4: 154,149,089 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Upp1 T C 11: 9,084,815 (GRCm39) I178T probably benign Het
Vmn2r73 A T 7: 85,521,883 (GRCm39) L152Q probably damaging Het
Vmn2r97 T C 17: 19,167,542 (GRCm39) S599P possibly damaging Het
Wrnip1 T C 13: 32,990,866 (GRCm39) L375P probably damaging Het
Zfp945 C T 17: 23,069,583 (GRCm39) G793D probably damaging Het
Zfyve9 C A 4: 108,576,389 (GRCm39) A231S probably benign Het
Other mutations in Gtf3c5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Gtf3c5 APN 2 28,459,301 (GRCm39) splice site probably null
R0062:Gtf3c5 UTSW 2 28,462,198 (GRCm39) splice site probably benign
R0062:Gtf3c5 UTSW 2 28,462,198 (GRCm39) splice site probably benign
R0395:Gtf3c5 UTSW 2 28,467,930 (GRCm39) missense probably damaging 1.00
R0653:Gtf3c5 UTSW 2 28,468,008 (GRCm39) missense probably benign 0.34
R1232:Gtf3c5 UTSW 2 28,461,227 (GRCm39) missense probably damaging 1.00
R1828:Gtf3c5 UTSW 2 28,469,694 (GRCm39) missense probably damaging 1.00
R2174:Gtf3c5 UTSW 2 28,457,787 (GRCm39) missense probably benign 0.26
R3154:Gtf3c5 UTSW 2 28,469,548 (GRCm39) missense probably damaging 0.96
R4612:Gtf3c5 UTSW 2 28,469,596 (GRCm39) missense probably benign 0.00
R4673:Gtf3c5 UTSW 2 28,462,236 (GRCm39) missense probably benign 0.20
R5092:Gtf3c5 UTSW 2 28,472,885 (GRCm39) missense possibly damaging 0.58
R6009:Gtf3c5 UTSW 2 28,461,177 (GRCm39) missense probably benign 0.00
R6334:Gtf3c5 UTSW 2 28,460,474 (GRCm39) missense probably benign 0.00
R6808:Gtf3c5 UTSW 2 28,460,499 (GRCm39) missense probably damaging 0.98
R7490:Gtf3c5 UTSW 2 28,461,153 (GRCm39) missense probably damaging 1.00
R7544:Gtf3c5 UTSW 2 28,469,554 (GRCm39) missense possibly damaging 0.91
R7940:Gtf3c5 UTSW 2 28,458,592 (GRCm39) missense possibly damaging 0.91
R8003:Gtf3c5 UTSW 2 28,459,373 (GRCm39) missense probably benign 0.03
R8176:Gtf3c5 UTSW 2 28,460,429 (GRCm39) critical splice donor site probably null
R8319:Gtf3c5 UTSW 2 28,460,506 (GRCm39) missense probably benign 0.00
R9151:Gtf3c5 UTSW 2 28,463,577 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACACATGTGCTGATACTCAAC -3'
(R):5'- AGGCACTGTTGGACTCCTTC -3'

Sequencing Primer
(F):5'- GTGCTGATACTCAACACACAGATAC -3'
(R):5'- GGACAGTTGTCACAGAAACTCCTG -3'
Posted On 2015-06-12