Incidental Mutation 'R8323:Gtf2h3'
ID 643913
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 067724-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R8323 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 124717211-124735743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124720534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 13 (I13V)
Ref Sequence ENSEMBL: ENSMUSP00000031333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031333] [ENSMUST00000031334] [ENSMUST00000128920] [ENSMUST00000135163] [ENSMUST00000135361] [ENSMUST00000198318]
AlphaFold Q8VD76
Predicted Effect probably benign
Transcript: ENSMUST00000031333
AA Change: I13V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: I13V

DomainStartEndE-ValueType
Pfam:Tfb4 8 287 2.1e-108 PFAM
low complexity region 299 306 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000031334
SMART Domains Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388

DomainStartEndE-ValueType
Pfam:IF-2B 14 293 2.3e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128920
SMART Domains Protein: ENSMUSP00000118760
Gene: ENSMUSG00000029388

DomainStartEndE-ValueType
Pfam:IF-2B 28 133 1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135163
Predicted Effect probably benign
Transcript: ENSMUST00000135361
SMART Domains Protein: ENSMUSP00000122923
Gene: ENSMUSG00000029388

DomainStartEndE-ValueType
Pfam:IF-2B 13 172 2.4e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198318
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,351 (GRCm39) F6S probably benign Het
Braf T C 6: 39,620,058 (GRCm39) T507A possibly damaging Het
Catsperb A C 12: 101,375,658 (GRCm39) H24P probably benign Het
Ccdc57 G T 11: 120,788,750 (GRCm39) Q366K possibly damaging Het
Cep295 G T 9: 15,249,529 (GRCm39) T462K possibly damaging Het
Cep295 T A 9: 15,264,357 (GRCm39) R96S probably damaging Het
Cfap206 C T 4: 34,719,647 (GRCm39) E256K probably benign Het
Cfap251 A G 5: 123,435,588 (GRCm39) N1016S probably benign Het
Cldn13 A G 5: 134,943,828 (GRCm39) V119A probably benign Het
Csmd1 G T 8: 17,266,751 (GRCm39) C58* probably null Het
Csmd3 T C 15: 47,561,547 (GRCm39) Y1343C Het
Dcbld2 T A 16: 58,283,473 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,109 (GRCm39) I2299V probably benign Het
Dsp C T 13: 38,356,806 (GRCm39) H229Y possibly damaging Het
Fam193b A T 13: 55,702,223 (GRCm39) C51* probably null Het
Fbxw10 G A 11: 62,767,506 (GRCm39) V781I probably benign Het
Fdps G T 3: 89,002,696 (GRCm39) P151T possibly damaging Het
Galk2 C T 2: 125,708,298 (GRCm39) H16Y probably benign Het
Gm1110 A G 9: 26,813,719 (GRCm39) probably null Het
Gm3727 C T 14: 7,261,693 (GRCm38) V204I probably benign Het
H2-T24 T A 17: 36,328,431 (GRCm39) probably null Het
Heatr5a C T 12: 52,002,289 (GRCm39) V216M probably benign Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Igfbp2 C T 1: 72,888,780 (GRCm39) P224S probably damaging Het
Igkv17-127 A G 6: 67,838,498 (GRCm39) I70V possibly damaging Het
Kif11 T A 19: 37,372,692 (GRCm39) F27I possibly damaging Het
Lcor T C 19: 41,572,036 (GRCm39) S264P probably benign Het
Lrrc28 G T 7: 67,245,455 (GRCm39) T137K unknown Het
Lyg1 T A 1: 37,989,018 (GRCm39) R67S probably damaging Het
Ms4a10 G A 19: 10,940,363 (GRCm39) Q255* probably null Het
Myo1h A G 5: 114,480,200 (GRCm39) R512G Het
Nmnat3 T C 9: 98,292,276 (GRCm39) Y174H probably damaging Het
Nrap T C 19: 56,378,255 (GRCm39) I19V probably benign Het
Nsf C A 11: 103,819,665 (GRCm39) V35L probably benign Het
Or1e30 A T 11: 73,677,766 (GRCm39) M1L probably damaging Het
Or2w6 T A 13: 21,843,302 (GRCm39) M64L possibly damaging Het
Osbpl9 A G 4: 108,965,119 (GRCm39) S116P probably benign Het
Pcdhb15 A C 18: 37,608,715 (GRCm39) E649A probably benign Het
Pcdhb8 T A 18: 37,488,476 (GRCm39) D51E probably benign Het
Plcl1 T A 1: 55,736,895 (GRCm39) D745E possibly damaging Het
Prss3 A G 6: 41,351,258 (GRCm39) L165P probably damaging Het
Psme4 T A 11: 30,793,532 (GRCm39) I1211N probably damaging Het
Rb1 A G 14: 73,503,023 (GRCm39) V416A probably benign Het
Rnf111 T A 9: 70,383,204 (GRCm39) Q243L probably benign Het
Sacm1l T C 9: 123,377,987 (GRCm39) V89A probably benign Het
Sardh C T 2: 27,125,576 (GRCm39) D313N probably damaging Het
Scin T C 12: 40,129,681 (GRCm39) I371V probably benign Het
Scn10a C A 9: 119,438,462 (GRCm39) L1801F possibly damaging Het
Sele G A 1: 163,879,207 (GRCm39) V281M possibly damaging Het
Slc17a1 C A 13: 24,071,982 (GRCm39) T400K probably damaging Het
Slc22a28 T A 19: 8,108,788 (GRCm39) D118V probably damaging Het
Slc2a10 T A 2: 165,356,671 (GRCm39) F110L probably benign Het
Slc51a A G 16: 32,295,197 (GRCm39) S294P probably damaging Het
Snapc4 T C 2: 26,254,711 (GRCm39) E1271G probably benign Het
Spata31 C A 13: 65,070,065 (GRCm39) Q738K possibly damaging Het
Spdya A G 17: 71,895,587 (GRCm39) D284G probably benign Het
Tdrd5 T C 1: 156,094,832 (GRCm39) D757G possibly damaging Het
Tmem104 T C 11: 115,134,199 (GRCm39) F245S probably damaging Het
Tmem170 A T 8: 112,603,153 (GRCm39) S39T probably benign Het
Trim24 G T 6: 37,892,233 (GRCm39) probably null Het
Uap1 A G 1: 169,978,635 (GRCm39) V302A probably damaging Het
Vmn2r96 A T 17: 18,803,023 (GRCm39) Y311F probably damaging Het
Wdhd1 A T 14: 47,512,252 (GRCm39) D46E possibly damaging Het
Zdbf2 G A 1: 63,342,073 (GRCm39) V151I possibly damaging Het
Zfp747l1 A T 7: 126,983,621 (GRCm39) C494S possibly damaging Het
Zfp943 A G 17: 22,211,763 (GRCm39) Q283R possibly damaging Het
Zfp944 A T 17: 22,558,235 (GRCm39) D337E 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
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
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'- CAAACTTGGCCTTTTCTGTGATG -3'
(R):5'- TGCCTTTATGAACCCACAGC -3'

Sequencing Primer
(F):5'- ATGTCACGATCGATCTTGAGG -3'
(R):5'- AGATGAGCTTGACCTCTGGCAATC -3'
Posted On 2020-09-02