Incidental Mutation 'R0653:Gtf3c5'
ID 62359
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 038838-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0653 (G1)
Quality Score 109
Status Not validated
Chromosome 2
Chromosomal Location 28456257-28473291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28468008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 151 (M151K)
Ref Sequence ENSEMBL: ENSMUSP00000109521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028157] [ENSMUST00000113889] [ENSMUST00000139553]
AlphaFold Q8R2T8
Predicted Effect probably benign
Transcript: ENSMUST00000028157
AA Change: M151K

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
AA Change: M151K

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: ENSMUST00000113889
AA Change: M151K

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
AA Change: M151K

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 probably benign
Transcript: ENSMUST00000139553
SMART Domains Protein: ENSMUSP00000135165
Gene: ENSMUSG00000026816

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177012
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,371 (GRCm39) R612* probably null Het
Adgra1 A G 7: 139,456,063 (GRCm39) T564A probably damaging Het
Akr1c18 A T 13: 4,195,307 (GRCm39) D50E probably damaging Het
Atg9a C A 1: 75,166,972 (GRCm39) L26F probably damaging Het
Atp11b A G 3: 35,893,343 (GRCm39) T899A probably damaging Het
Atxn2 A G 5: 121,910,841 (GRCm39) E358G probably damaging Het
Bmp3 A G 5: 99,019,970 (GRCm39) Y131C probably damaging Het
Brip1 T C 11: 86,043,484 (GRCm39) E360G possibly damaging Het
Casd1 A T 6: 4,608,075 (GRCm39) I76L probably benign Het
Casq2 G A 3: 102,020,482 (GRCm39) probably null Het
Ccdc185 T A 1: 182,575,129 (GRCm39) Q520L possibly damaging Het
Cenpf T C 1: 189,392,183 (GRCm39) K550E probably damaging Het
Ciz1 T C 2: 32,262,418 (GRCm39) S521P probably damaging Het
Clstn2 A T 9: 97,340,257 (GRCm39) V705E probably damaging Het
Dagla A G 19: 10,225,789 (GRCm39) Y792H probably damaging Het
Dgke A T 11: 88,950,995 (GRCm39) C73S probably benign Het
Egflam A G 15: 7,279,509 (GRCm39) probably null Het
Farp1 T C 14: 121,471,258 (GRCm39) probably null Het
Fos A G 12: 85,522,790 (GRCm39) E234G probably benign Het
Hgs G A 11: 120,359,904 (GRCm39) R36H probably damaging Het
Lats2 G A 14: 57,937,653 (GRCm39) Q279* probably null Het
Lysmd4 T A 7: 66,875,788 (GRCm39) D150E probably benign Het
Mex3b A G 7: 82,518,242 (GRCm39) K186E probably damaging Het
Myo9a A C 9: 59,832,274 (GRCm39) Q2601P probably damaging Het
Nckap5l C A 15: 99,321,127 (GRCm39) V1218F probably damaging Het
Nr5a2 A G 1: 136,876,543 (GRCm39) V40A probably benign Het
Obscn C A 11: 58,898,534 (GRCm39) probably benign Het
Or2y1d C A 11: 49,322,078 (GRCm39) Y258* probably null Het
Or4c114 A G 2: 88,904,808 (GRCm39) I209T possibly damaging Het
Or8g4 A G 9: 39,661,934 (GRCm39) N84S probably benign Het
Pclo T A 5: 14,732,269 (GRCm39) probably benign Het
Reln T C 5: 22,118,228 (GRCm39) I2939V probably benign Het
Rtn4 A T 11: 29,657,256 (GRCm39) K470I probably damaging Het
Sbno1 A G 5: 124,524,955 (GRCm39) I1050T possibly damaging Het
Scaf11 G T 15: 96,316,522 (GRCm39) S17* probably null Het
Scn9a A T 2: 66,363,721 (GRCm39) N841K probably damaging Het
Slc35e3 C A 10: 117,576,711 (GRCm39) E207* probably null Het
Slc6a20b A G 9: 123,426,377 (GRCm39) F503L probably damaging Het
Spag16 G T 1: 69,909,504 (GRCm39) K200N probably damaging Het
Supt6 G T 11: 78,116,841 (GRCm39) Q604K probably benign Het
Taok1 A G 11: 77,469,550 (GRCm39) probably null Het
Tjp1 A T 7: 64,964,503 (GRCm39) H889Q probably damaging Het
Tmed6 A T 8: 107,792,283 (GRCm39) probably null Het
Tsen54 A T 11: 115,705,887 (GRCm39) E68V probably damaging Het
Ttn A G 2: 76,559,878 (GRCm39) S21181P probably damaging Het
Ube3d A T 9: 86,334,043 (GRCm39) M33K possibly damaging Het
Umodl1 C A 17: 31,203,002 (GRCm39) Q452K probably benign Het
Wif1 G T 10: 120,935,704 (GRCm39) A354S probably benign Het
Wnk2 A G 13: 49,210,492 (GRCm39) F1788L possibly damaging Het
Zfhx3 A T 8: 109,673,440 (GRCm39) I1497F possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp30 G A 7: 29,492,178 (GRCm39) R225Q probably damaging Het
Zfp87 T C 13: 74,520,190 (GRCm39) E296G probably damaging Het
Zfp874b A G 13: 67,623,052 (GRCm39) F86S possibly damaging Het
Zfyve19 A G 2: 119,041,696 (GRCm39) S88G 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
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
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'- AATCACCAGGCCACTGCTTAGGAC -3'
(R):5'- GCACTAATTTGCACAGCCATCAGAG -3'

Sequencing Primer
(F):5'- GCCACTGCTTAGGACACTCC -3'
(R):5'- CGCTGCACAGCTCACTC -3'
Posted On 2013-07-30