Incidental Mutation 'R2174:Gtf3c5'
ID 237668
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 040176-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2174 (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 28457787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 468 (D468G)
Ref Sequence ENSEMBL: ENSMUSP00000028157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028157] [ENSMUST00000028161] [ENSMUST00000113889]
AlphaFold Q8R2T8
Predicted Effect probably benign
Transcript: ENSMUST00000028157
AA Change: D468G

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
AA Change: D468G

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 benign
Transcript: ENSMUST00000028161
SMART Domains Protein: ENSMUSP00000028161
Gene: ENSMUSG00000026818

DomainStartEndE-ValueType
Pfam:COesterase 1 542 2.4e-163 PFAM
Pfam:Abhydrolase_3 121 226 8e-8 PFAM
low complexity region 568 589 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113889
AA Change: D474G

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
AA Change: D474G

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: ENSMUST00000124756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142054
Meta Mutation Damage Score 0.0731 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik T C 7: 37,894,252 (GRCm39) I95T possibly damaging Het
Adarb1 A G 10: 77,131,632 (GRCm39) I619T probably benign Het
Aldh2 T C 5: 121,710,731 (GRCm39) probably benign Het
Antxrl T A 14: 33,782,357 (GRCm39) L180Q probably damaging Het
Asnsd1 A T 1: 53,386,760 (GRCm39) I289N probably benign Het
Asxl3 T G 18: 22,586,701 (GRCm39) S164A possibly damaging Het
Cacnb2 C T 2: 14,963,578 (GRCm39) T108I probably benign Het
Capn2 A T 1: 182,307,290 (GRCm39) I516N probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cenpo T C 12: 4,267,318 (GRCm39) K73R probably benign Het
Cfap20dc T C 14: 8,558,109 (GRCm38) I159V probably benign Het
Clasp1 A G 1: 118,487,825 (GRCm39) H823R probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Ddx60 A G 8: 62,409,175 (GRCm39) I404V probably damaging Het
Ddx60 G T 8: 62,470,234 (GRCm39) M1407I probably benign Het
Dennd3 A T 15: 73,427,154 (GRCm39) R844W probably damaging Het
Depdc1b A T 13: 108,498,787 (GRCm39) K157* probably null Het
Dnai7 T C 6: 145,120,896 (GRCm39) H641R probably damaging Het
Dnajc1 T C 2: 18,312,762 (GRCm39) D196G probably damaging Het
Fanca A G 8: 123,998,009 (GRCm39) W1226R probably benign Het
Fbxl13 A G 5: 21,787,046 (GRCm39) V297A possibly damaging Het
Fnta A T 8: 26,503,498 (GRCm39) F96I possibly damaging Het
Fzd3 T C 14: 65,449,680 (GRCm39) probably benign Het
Gckr T C 5: 31,484,353 (GRCm39) V597A possibly damaging Het
Gm43302 T C 5: 105,422,216 (GRCm39) K496R probably benign Het
Gm5283 A G 3: 17,285,005 (GRCm39) noncoding transcript Het
Gm6741 A G 17: 91,544,332 (GRCm39) I32V probably benign Het
Gnptab T A 10: 88,269,906 (GRCm39) F870I probably damaging Het
Gpx8 G A 13: 113,182,140 (GRCm39) P98S probably benign Het
Grm2 T C 9: 106,524,994 (GRCm39) I574V probably benign Het
Hectd3 A T 4: 116,856,898 (GRCm39) M482L probably benign Het
Ier5 G T 1: 154,974,599 (GRCm39) P193H possibly damaging Het
Inpp4a A G 1: 37,435,211 (GRCm39) N827S probably damaging Het
Kif13a A G 13: 46,922,652 (GRCm39) L387P probably damaging Het
Map3k1 G C 13: 111,889,016 (GRCm39) H1314D possibly damaging Het
Mbl2 G A 19: 30,211,412 (GRCm39) C11Y possibly damaging Het
Msr1 A G 8: 40,084,381 (GRCm39) L58P probably damaging Het
Mtmr10 T A 7: 63,986,512 (GRCm39) F530Y possibly damaging Het
Myo7b A G 18: 32,116,610 (GRCm39) L999P probably damaging Het
Myoz3 T C 18: 60,723,296 (GRCm39) E8G probably benign Het
Naip6 C A 13: 100,435,495 (GRCm39) M1009I probably benign Het
Nav2 T A 7: 49,102,411 (GRCm39) M342K probably damaging Het
Ndufaf6 T C 4: 11,070,228 (GRCm39) H131R probably benign Het
Nlrp4a T C 7: 26,148,849 (GRCm39) L152P probably damaging Het
Or9s23 A G 1: 92,501,379 (GRCm39) N162S probably benign Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Prkdc A T 16: 15,552,786 (GRCm39) Q2074L probably benign Het
Pthlh G A 6: 147,158,510 (GRCm39) T150I probably benign Het
Ptprq A T 10: 107,541,414 (GRCm39) Y371N probably damaging Het
Rfwd3 A G 8: 112,009,975 (GRCm39) S377P probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sap130 T C 18: 31,810,532 (GRCm39) probably null Het
Sap25 T G 5: 137,640,891 (GRCm39) M229R possibly damaging Het
Scaper A T 9: 55,766,321 (GRCm39) V479E probably null Het
Scn3a T A 2: 65,337,550 (GRCm39) D649V probably damaging Het
Slco1a7 A T 6: 141,673,319 (GRCm39) Y406* probably null Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Sowahb T C 5: 93,192,284 (GRCm39) E145G possibly damaging Het
Stxbp5 T A 10: 9,711,590 (GRCm39) I277F possibly damaging Het
Tanc1 T C 2: 59,674,177 (GRCm39) S1754P possibly damaging Het
Tanc2 A G 11: 105,801,135 (GRCm39) D1117G probably benign Het
Tbc1d31 A G 15: 57,815,137 (GRCm39) M605V possibly damaging Het
Tekt3 A T 11: 62,985,514 (GRCm39) D440V possibly damaging Het
Tmem67 C T 4: 12,063,730 (GRCm39) W477* probably null Het
Tra2a T C 6: 49,227,861 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,380 (GRCm39) F51L possibly damaging Het
Trrap C A 5: 144,758,665 (GRCm39) P2183Q probably benign Het
Ubn2 T A 6: 38,447,076 (GRCm39) probably null Het
Unc5d A T 8: 29,184,568 (GRCm39) V644E probably damaging Het
Xpo4 A G 14: 57,827,547 (GRCm39) L883P probably damaging Het
Zbbx T G 3: 74,959,721 (GRCm39) D616A possibly damaging Het
Zfp943 T A 17: 22,211,804 (GRCm39) C297S probably damaging 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
R3154:Gtf3c5 UTSW 2 28,469,548 (GRCm39) missense probably damaging 0.96
R4247:Gtf3c5 UTSW 2 28,461,196 (GRCm39) missense probably damaging 1.00
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'- TAGGACAGCAGCTTTGGGAG -3'
(R):5'- TGGGTTCAAACATGCCTACTAGG -3'

Sequencing Primer
(F):5'- CTTTGGGAGGAGCCTCAAG -3'
(R):5'- GCTCCCTGCCTGTCCCC -3'
Posted On 2014-10-02