Incidental Mutation 'IGL01322:Gtf3c4'
ID 74085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf3c4
Ensembl Gene ENSMUSG00000035666
Gene Name general transcription factor IIIC, polypeptide 4
Synonyms KAT12
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL01322
Quality Score
Status
Chromosome 2
Chromosomal Location 28712311-28730372 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28723584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 575 (D575G)
Ref Sequence ENSEMBL: ENSMUSP00000132171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037117] [ENSMUST00000171404]
AlphaFold Q8BMQ2
Predicted Effect probably benign
Transcript: ENSMUST00000037117
AA Change: D716G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: D716G

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 benign
Transcript: ENSMUST00000171404
AA Change: D575G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: D575G

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Gtf3c4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Gtf3c4 APN 2 28,725,081 (GRCm39) missense probably damaging 1.00
IGL01574:Gtf3c4 APN 2 28,724,448 (GRCm39) missense possibly damaging 0.50
IGL01778:Gtf3c4 APN 2 28,725,100 (GRCm39) missense probably damaging 1.00
IGL01802:Gtf3c4 APN 2 28,724,092 (GRCm39) missense probably damaging 1.00
IGL02560:Gtf3c4 APN 2 28,724,279 (GRCm39) nonsense probably null
R0190:Gtf3c4 UTSW 2 28,730,140 (GRCm39) missense probably benign 0.19
R0245:Gtf3c4 UTSW 2 28,724,976 (GRCm39) missense possibly damaging 0.71
R0440:Gtf3c4 UTSW 2 28,730,181 (GRCm39) splice site probably null
R0882:Gtf3c4 UTSW 2 28,724,782 (GRCm39) missense probably damaging 1.00
R1757:Gtf3c4 UTSW 2 28,720,648 (GRCm39) splice site probably benign
R1809:Gtf3c4 UTSW 2 28,723,988 (GRCm39) nonsense probably null
R1893:Gtf3c4 UTSW 2 28,724,374 (GRCm39) missense possibly damaging 0.92
R1903:Gtf3c4 UTSW 2 28,729,968 (GRCm39) missense probably benign 0.19
R2020:Gtf3c4 UTSW 2 28,723,906 (GRCm39) missense possibly damaging 0.81
R2867:Gtf3c4 UTSW 2 28,729,916 (GRCm39) utr 5 prime probably benign
R3076:Gtf3c4 UTSW 2 28,725,165 (GRCm39) missense possibly damaging 0.56
R4113:Gtf3c4 UTSW 2 28,717,567 (GRCm39) missense probably damaging 1.00
R4404:Gtf3c4 UTSW 2 28,716,761 (GRCm39) missense probably damaging 1.00
R5751:Gtf3c4 UTSW 2 28,717,511 (GRCm39) missense probably damaging 1.00
R5997:Gtf3c4 UTSW 2 28,723,723 (GRCm39) missense possibly damaging 0.62
R8162:Gtf3c4 UTSW 2 28,724,593 (GRCm39) nonsense probably null
R9164:Gtf3c4 UTSW 2 28,724,661 (GRCm39) missense probably benign 0.31
R9170:Gtf3c4 UTSW 2 28,730,214 (GRCm39) missense possibly damaging 0.86
R9232:Gtf3c4 UTSW 2 28,724,848 (GRCm39) missense probably damaging 1.00
R9308:Gtf3c4 UTSW 2 28,724,982 (GRCm39) missense probably damaging 1.00
R9415:Gtf3c4 UTSW 2 28,723,966 (GRCm39) missense possibly damaging 0.95
R9752:Gtf3c4 UTSW 2 28,724,126 (GRCm39) missense probably damaging 1.00
Z1177:Gtf3c4 UTSW 2 28,725,085 (GRCm39) missense probably damaging 0.96
Posted On 2013-10-07