Incidental Mutation 'IGL03097:Gtf2h3'
ID 453209
Institutional Source Beutler Lab
Gene Symbol Gtf2h3
Ensembl Gene ENSMUSG00000029387
Gene Name general transcription factor IIH, polypeptide 3
Synonyms 5033417D07Rik, BTF2, D5Ertd679e, 34kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL03097 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 124717211-124735743 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 124740231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031333]
AlphaFold Q8VD76
Predicted Effect probably benign
Transcript: ENSMUST00000031333
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387

DomainStartEndE-ValueType
Pfam:Tfb4 8 287 2.1e-108 PFAM
low complexity region 299 306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000100706
SMART Domains Protein: ENSMUSP00000098272
Gene: ENSMUSG00000029386

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:DUF1619 171 442 6.8e-75 PFAM
low complexity region 669 681 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130912
SMART Domains Protein: ENSMUSP00000114298
Gene: ENSMUSG00000029386

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:DUF1619 171 442 1.5e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185820
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 90% (46/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Adcy9 T C 16: 4,235,930 (GRCm39) T257A possibly damaging Het
Ahnak A G 19: 8,979,751 (GRCm39) D345G probably benign Het
Ak5 A G 3: 152,366,151 (GRCm39) probably null Het
Akap3 A G 6: 126,843,379 (GRCm39) K666R probably damaging Het
Alpk3 A G 7: 80,743,657 (GRCm39) N1158S probably benign Het
Atp23 A T 10: 126,723,556 (GRCm39) V182E probably damaging Het
Atp4a A G 7: 30,422,462 (GRCm39) D898G probably benign Het
Bnip3 T C 7: 138,496,208 (GRCm39) N140S probably damaging Het
Bptf T C 11: 106,968,506 (GRCm39) Y1059C probably damaging Het
Cacna1h A T 17: 25,610,118 (GRCm39) I796N probably damaging Het
Ccnb2 A G 9: 70,316,678 (GRCm39) probably benign Het
Cd3g T A 9: 44,882,061 (GRCm39) D165V probably damaging Het
Cfap70 T C 14: 20,498,676 (GRCm39) T4A probably benign Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Cntn4 C T 6: 106,330,673 (GRCm39) T97M probably benign Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Crim1 C T 17: 78,675,227 (GRCm39) T812I probably benign Het
Csmd1 G T 8: 15,995,127 (GRCm39) T2636K probably damaging Het
Cyp39a1 T A 17: 43,993,941 (GRCm39) Y200* probably null Het
Dlg4 T G 11: 69,933,028 (GRCm39) I478S probably damaging Het
Dsc3 A T 18: 20,107,105 (GRCm39) N505K probably benign Het
Efhc1 T C 1: 21,043,049 (GRCm39) W323R probably damaging Het
Ehhadh T A 16: 21,581,520 (GRCm39) I491L probably benign Het
Ggt6 T G 11: 72,327,639 (GRCm39) H148Q possibly damaging Het
Gstm3 T C 3: 107,876,117 (GRCm39) D25G probably benign Het
Hjurp TGGG TTGCGGG 1: 88,194,002 (GRCm39) probably benign Het
Hnf4g A C 3: 3,716,674 (GRCm39) E281A probably damaging Het
Impg1 T G 9: 80,287,234 (GRCm39) E404A possibly damaging Het
Kcna2 T C 3: 107,012,715 (GRCm39) V432A probably benign Het
Map3k2 T G 18: 32,333,070 (GRCm39) D81E probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mmp9 T A 2: 164,792,726 (GRCm39) probably null Het
Mroh2a G A 1: 88,163,098 (GRCm39) R376H probably benign Het
Ms4a1 G T 19: 11,230,556 (GRCm39) T215N probably benign Het
Pam16 T C 16: 4,434,458 (GRCm39) I111V probably benign Het
Pde6c A G 19: 38,166,719 (GRCm39) T720A probably damaging Het
Pgap2 T C 7: 101,885,434 (GRCm39) L100P probably damaging Het
Ppl T A 16: 4,914,590 (GRCm39) S686C probably damaging Het
Rnls A G 19: 33,115,679 (GRCm39) probably benign Het
Robo3 A C 9: 37,333,824 (GRCm39) probably null Het
Rptn G A 3: 93,304,680 (GRCm39) G671D probably damaging Het
Slc6a21 C T 7: 44,937,592 (GRCm39) Q628* probably null Het
Smg6 T G 11: 74,823,252 (GRCm39) I708S probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Thap1 C G 8: 26,652,498 (GRCm39) P79A probably benign Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I 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
R0599:Gtf2h3 UTSW 5 124,726,691 (GRCm39) missense probably benign 0.00
R1512:Gtf2h3 UTSW 5 124,728,933 (GRCm39) missense probably damaging 0.99
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'- GCTGTGTTTCCCTTCCAGAG -3'
(R):5'- TTTAGGAAGGCAAGAGAGACTC -3'

Sequencing Primer
(F):5'- AGCACGCTGGAAGTGACC -3'
(R):5'- CAAGGCAGCTCTGTGAGTTCAATC -3'
Posted On 2017-01-31