Incidental Mutation 'IGL01778:Gtf3c4'
ID153760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf3c4
Ensembl Gene ENSMUSG00000035666
Gene Namegeneral transcription factor IIIC, polypeptide 4
SynonymsKAT12
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock #IGL01778
Quality Score
Status
Chromosome2
Chromosomal Location28822299-28840360 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 28835088 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 211 (R211C)
Ref Sequence ENSEMBL: ENSMUSP00000042265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037117] [ENSMUST00000171404]
Predicted Effect probably damaging
Transcript: ENSMUST00000037117
AA Change: R211C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: R211C

DomainStartEndE-ValueType
low complexity region 18 42 N/A INTRINSIC
Pfam:TFIIIC_delta 59 250 1.1e-45 PFAM
low complexity region 609 621 N/A INTRINSIC
Pfam:zf-TFIIIC 728 816 2.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156468
Predicted Effect probably damaging
Transcript: ENSMUST00000171404
AA Change: R70C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: R70C

DomainStartEndE-ValueType
Pfam:TFIIIC_delta 7 109 3.1e-17 PFAM
low complexity region 468 480 N/A INTRINSIC
Pfam:zf-TFIIIC 587 676 4.4e-26 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Gtf3c4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Gtf3c4 APN 2 28833572 missense probably benign
IGL01419:Gtf3c4 APN 2 28835069 missense probably damaging 1.00
IGL01574:Gtf3c4 APN 2 28834436 missense possibly damaging 0.50
IGL01802:Gtf3c4 APN 2 28834080 missense probably damaging 1.00
IGL02560:Gtf3c4 APN 2 28834267 nonsense probably null
R0190:Gtf3c4 UTSW 2 28840128 missense probably benign 0.19
R0245:Gtf3c4 UTSW 2 28834964 missense possibly damaging 0.71
R0440:Gtf3c4 UTSW 2 28840169 splice site probably null
R0882:Gtf3c4 UTSW 2 28834770 missense probably damaging 1.00
R1757:Gtf3c4 UTSW 2 28830636 splice site probably benign
R1809:Gtf3c4 UTSW 2 28833976 nonsense probably null
R1893:Gtf3c4 UTSW 2 28834362 missense possibly damaging 0.92
R1903:Gtf3c4 UTSW 2 28839956 missense probably benign 0.19
R2020:Gtf3c4 UTSW 2 28833894 missense possibly damaging 0.81
R2867:Gtf3c4 UTSW 2 28839904 utr 5 prime probably benign
R3076:Gtf3c4 UTSW 2 28835153 missense possibly damaging 0.56
R4113:Gtf3c4 UTSW 2 28827555 missense probably damaging 1.00
R4404:Gtf3c4 UTSW 2 28826749 missense probably damaging 1.00
R5751:Gtf3c4 UTSW 2 28827499 missense probably damaging 1.00
R5997:Gtf3c4 UTSW 2 28833711 missense possibly damaging 0.62
R8162:Gtf3c4 UTSW 2 28834581 nonsense probably null
Z1177:Gtf3c4 UTSW 2 28835073 missense probably damaging 0.96
Posted On2014-02-04