Incidental Mutation 'R1512:Gtf2h3'
ID 168407
Institutional Source Beutler Lab
Gene Symbol Gtf2h3
Ensembl Gene ENSMUSG00000029387
Gene Name general transcription factor IIH, polypeptide 3
Synonyms 5033417D07Rik, BTF2, D5Ertd679e, 34kDa
MMRRC Submission 039559-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R1512 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 124717211-124735743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124728933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 164 (V164E)
Ref Sequence ENSEMBL: ENSMUSP00000031333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031333]
AlphaFold Q8VD76
Predicted Effect probably damaging
Transcript: ENSMUST00000031333
AA Change: V164E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: V164E

DomainStartEndE-ValueType
Pfam:Tfb4 8 287 2.1e-108 PFAM
low complexity region 299 306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153436
Meta Mutation Damage Score 0.9012 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 95% (79/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,086,295 (GRCm39) D40E probably benign Het
Acsf2 C T 11: 94,452,224 (GRCm39) probably benign Het
Adamts19 C T 18: 59,181,917 (GRCm39) H1119Y possibly damaging Het
Akap6 A G 12: 52,983,937 (GRCm39) D827G probably damaging Het
Ankrd33b T C 15: 31,367,375 (GRCm39) D55G probably damaging Het
Ano5 T A 7: 51,229,316 (GRCm39) H569Q probably benign Het
Aox1 A G 1: 58,346,510 (GRCm39) D548G probably benign Het
Baz2a A G 10: 127,960,021 (GRCm39) D1433G possibly damaging Het
BC031181 T G 18: 75,141,767 (GRCm39) V8G probably damaging Het
Bicdl2 A T 17: 23,887,083 (GRCm39) M457L probably damaging Het
C130074G19Rik T C 1: 184,615,103 (GRCm39) D29G probably damaging Het
Cd200r1 A T 16: 44,586,390 (GRCm39) T7S probably benign Het
Cdc37 A G 9: 21,053,712 (GRCm39) probably benign Het
Cmtr2 T C 8: 110,949,267 (GRCm39) S526P probably damaging Het
Cntn2 G T 1: 132,451,430 (GRCm39) A433D probably damaging Het
Cntnap5a T C 1: 115,828,680 (GRCm39) S35P probably benign Het
Csf3r A G 4: 125,923,777 (GRCm39) T96A possibly damaging Het
Ctbs A G 3: 146,160,720 (GRCm39) N96D probably benign Het
Cyp26b1 C A 6: 84,553,979 (GRCm39) V213L probably benign Het
Dach1 A G 14: 98,138,835 (GRCm39) L536P probably damaging Het
Dcaf6 T C 1: 165,179,589 (GRCm39) Q517R probably benign Het
Dnah1 G T 14: 31,014,994 (GRCm39) Q1733K probably damaging Het
Dnah17 A T 11: 117,985,841 (GRCm39) I1416N probably benign Het
Dock11 G A X: 35,283,688 (GRCm39) R1102H probably damaging Het
Dpp8 T C 9: 64,971,096 (GRCm39) probably benign Het
Emc1 G A 4: 139,087,495 (GRCm39) probably null Het
Emc8 A G 8: 121,384,983 (GRCm39) L76P possibly damaging Het
Emx2 T C 19: 59,448,035 (GRCm39) Y130H possibly damaging Het
Fbf1 C T 11: 116,038,753 (GRCm39) R815Q probably damaging Het
Foxb2 G A 19: 16,849,878 (GRCm39) P376L probably damaging Het
Gabrb1 C A 5: 72,266,047 (GRCm39) L202I probably damaging Het
Gabrb1 T A 5: 72,266,048 (GRCm39) L202Q probably damaging Het
Grin2c T A 11: 115,144,676 (GRCm39) I617F probably damaging Het
Gusb T C 5: 130,029,731 (GRCm39) Q88R probably damaging Het
Hormad2 T A 11: 4,374,788 (GRCm39) K75N probably damaging Het
Il33 A G 19: 29,929,390 (GRCm39) T38A possibly damaging Het
Ivns1abp A T 1: 151,236,687 (GRCm39) Q416L possibly damaging Het
Ivns1abp G C 1: 151,236,688 (GRCm39) Q416H probably benign Het
Kcnh5 T A 12: 75,166,711 (GRCm39) H178L probably benign Het
Kif21b A G 1: 136,080,543 (GRCm39) N579S probably benign Het
Kif26a G C 12: 112,113,389 (GRCm39) R95P possibly damaging Het
Kl A G 5: 150,912,062 (GRCm39) I604V probably benign Het
Klhl24 A G 16: 19,941,686 (GRCm39) K545E probably damaging Het
Mcm3ap A G 10: 76,306,347 (GRCm39) I153M probably damaging Het
Meis1 T G 11: 18,831,682 (GRCm39) D452A probably damaging Het
Msantd4 C T 9: 4,384,138 (GRCm39) P153L probably benign Het
Myot A G 18: 44,475,422 (GRCm39) E181G probably damaging Het
Nf1 T C 11: 79,281,195 (GRCm39) F150S probably damaging Het
Nyap2 T A 1: 81,219,566 (GRCm39) S529R probably damaging Het
Or10d3 T C 9: 39,461,390 (GRCm39) Y259C probably damaging Het
Or12e10 A T 2: 87,640,988 (GRCm39) T275S probably benign Het
Or2y1c A G 11: 49,361,286 (GRCm39) I103V probably benign Het
Or8b56 T A 9: 38,739,660 (GRCm39) Y224* probably null Het
Pcnt C T 10: 76,240,496 (GRCm39) probably null Het
Pik3c3 T C 18: 30,455,289 (GRCm39) probably null Het
Pkdcc A T 17: 83,527,473 (GRCm39) Y217F possibly damaging Het
Pnpla6 C A 8: 3,585,459 (GRCm39) probably benign Het
Polr3gl T C 3: 96,488,190 (GRCm39) M26V probably benign Het
Ppp1r13b T C 12: 111,838,842 (GRCm39) N12S possibly damaging Het
Ppp1r26 G A 2: 28,341,528 (GRCm39) R386K probably benign Het
Prdm10 A G 9: 31,248,697 (GRCm39) E355G probably damaging Het
Prex2 T C 1: 11,131,554 (GRCm39) F41S possibly damaging Het
Prkar1b G T 5: 139,036,428 (GRCm39) Y231* probably null Het
Prkdc A T 16: 15,505,268 (GRCm39) I857L probably benign Het
Psg21 A T 7: 18,390,425 (GRCm39) N10K probably benign Het
Rapgef3 A T 15: 97,655,382 (GRCm39) V444E probably benign Het
Rnf17 A T 14: 56,705,243 (GRCm39) T716S probably benign Het
Rps6ka1 C T 4: 133,578,315 (GRCm39) R577H probably damaging Het
Scn1a A C 2: 66,161,629 (GRCm39) N306K possibly damaging Het
Skint6 A G 4: 113,095,329 (GRCm39) I110T probably damaging Het
Ssu2 A G 6: 112,364,959 (GRCm39) M1T probably null Het
Stag3 A T 5: 138,296,247 (GRCm39) T437S probably benign Het
Tal2 A G 4: 53,786,107 (GRCm39) Y96C probably benign Het
Thoc3 A T 13: 54,613,991 (GRCm39) probably null Het
Tle1 T C 4: 72,059,495 (GRCm39) D19G probably damaging Het
Trpm4 A G 7: 44,964,468 (GRCm39) I690T probably benign Het
Trpm6 A T 19: 18,853,295 (GRCm39) M1772L probably benign Het
Unc5b G A 10: 60,667,254 (GRCm39) probably benign Het
Usf3 G T 16: 44,041,561 (GRCm39) V2014F probably damaging Het
Utp18 C T 11: 93,776,390 (GRCm39) A32T probably benign Het
Wdfy4 A G 14: 32,682,765 (GRCm39) V2981A probably damaging Het
Zfp608 A G 18: 55,079,738 (GRCm39) V349A probably damaging Het
Znfx1 A C 2: 166,898,237 (GRCm39) I229S probably benign Het
Other mutations in Gtf2h3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Gtf2h3 APN 5 124,733,731 (GRCm39) missense probably damaging 0.96
IGL01611:Gtf2h3 APN 5 124,733,748 (GRCm39) missense probably damaging 1.00
IGL01681:Gtf2h3 APN 5 124,732,854 (GRCm39) missense probably damaging 1.00
IGL03097:Gtf2h3 UTSW 5 124,740,231 (GRCm39) unclassified probably benign
R0599:Gtf2h3 UTSW 5 124,726,691 (GRCm39) missense probably benign 0.00
R1727:Gtf2h3 UTSW 5 124,728,419 (GRCm39) missense probably benign 0.00
R1880:Gtf2h3 UTSW 5 124,722,336 (GRCm39) missense probably benign 0.00
R1881:Gtf2h3 UTSW 5 124,722,336 (GRCm39) missense probably benign 0.00
R1929:Gtf2h3 UTSW 5 124,740,262 (GRCm39) unclassified probably benign
R2149:Gtf2h3 UTSW 5 124,737,848 (GRCm39) unclassified probably benign
R2359:Gtf2h3 UTSW 5 124,728,939 (GRCm39) missense probably damaging 1.00
R2993:Gtf2h3 UTSW 5 124,721,997 (GRCm39) missense probably benign 0.00
R4399:Gtf2h3 UTSW 5 124,740,126 (GRCm39) unclassified probably benign
R4551:Gtf2h3 UTSW 5 124,728,482 (GRCm39) intron probably benign
R5282:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5289:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5566:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5567:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5569:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5570:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5581:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5583:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5709:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5784:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5967:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R5968:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R6036:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R6050:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R6518:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R6519:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R6520:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R6526:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R6528:Gtf2h3 UTSW 5 124,722,360 (GRCm39) missense probably benign 0.00
R7176:Gtf2h3 UTSW 5 124,728,433 (GRCm39) missense probably damaging 0.99
R7184:Gtf2h3 UTSW 5 124,722,067 (GRCm39) missense probably benign 0.22
R8262:Gtf2h3 UTSW 5 124,728,967 (GRCm39) nonsense probably null
R8270:Gtf2h3 UTSW 5 124,734,050 (GRCm39) makesense probably null
R8323:Gtf2h3 UTSW 5 124,720,534 (GRCm39) missense probably benign 0.01
R8361:Gtf2h3 UTSW 5 124,733,731 (GRCm39) missense probably damaging 0.96
R8736:Gtf2h3 UTSW 5 124,728,972 (GRCm39) missense probably damaging 1.00
Z1176:Gtf2h3 UTSW 5 124,717,238 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GACCATGAAGCTCTGGTGTCATCC -3'
(R):5'- GCCCTGTTTAGCCAGAACACTACTG -3'

Sequencing Primer
(F):5'- ATGAAGCTCTGGTGTCATCCTTTAC -3'
(R):5'- cccctgaaactggaattacagac -3'
Posted On 2014-04-13