Incidental Mutation 'IGL02560:Gtf3c4'
ID298202
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: 0.943) question?
Stock #IGL02560
Quality Score
Status
Chromosome2
Chromosomal Location28822299-28840360 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 28834267 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 343 (Y343*)
Ref Sequence ENSEMBL: ENSMUSP00000132171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037117] [ENSMUST00000171404]
Predicted Effect probably null
Transcript: ENSMUST00000037117
AA Change: Y484*
SMART Domains Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: Y484*

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 null
Transcript: ENSMUST00000171404
AA Change: Y343*
SMART Domains Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: Y343*

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A G 10: 3,125,866 noncoding transcript Het
Ano4 C T 10: 88,978,741 W660* probably null Het
Atp9b T C 18: 80,762,198 D715G probably benign Het
Catsper1 T C 19: 5,336,188 S150P possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn19 G A 4: 119,255,724 W51* probably null Het
Ddx31 T C 2: 28,875,826 I512T probably damaging Het
Dsc2 G T 18: 20,045,539 D269E probably damaging Het
Dsg1b T C 18: 20,409,178 V914A possibly damaging Het
Etl4 A G 2: 20,743,718 E420G probably damaging Het
Foxa2 A G 2: 148,044,031 L113P probably benign Het
Gm6034 T G 17: 36,056,464 probably benign Het
Hhip A T 8: 79,987,009 Y563N probably damaging Het
Ighg2c A T 12: 113,287,884 C208S unknown Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Myb A T 10: 21,152,448 L172Q probably damaging Het
Nipal3 A T 4: 135,479,704 Y60N probably damaging Het
Npas2 A T 1: 39,333,961 probably benign Het
Olfr1008 T A 2: 85,689,519 V30D possibly damaging Het
Olfr1089 A T 2: 86,733,234 I126N probably damaging Het
Olfr196 G T 16: 59,167,528 S205* probably null Het
Pdxdc1 T C 16: 13,839,732 D532G probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Senp5 A G 16: 31,989,392 V348A probably benign Het
Slc25a37 T C 14: 69,245,292 T187A probably benign Het
Svil A G 18: 5,049,379 I219V probably benign Het
Tcf4 A G 18: 69,643,022 probably benign Het
Tex15 T C 8: 33,581,751 V2442A probably benign Het
Tomm70a T C 16: 57,149,849 L530S probably benign Het
Wscd2 A T 5: 113,560,984 D200V probably benign Het
Zfp952 C T 17: 33,002,819 Q53* probably null 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
IGL01778:Gtf3c4 APN 2 28835088 missense probably damaging 1.00
IGL01802:Gtf3c4 APN 2 28834080 missense probably damaging 1.00
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 unclassified 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
Z1177:Gtf3c4 UTSW 2 28835073 missense probably damaging 0.96
Posted On2015-04-16