Incidental Mutation 'R6519:Gtf2h3'
ID 520975
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 044646-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 124717211-124735743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124722360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 121 (T121I)
Ref Sequence ENSEMBL: ENSMUSP00000031333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031333]
AlphaFold Q8VD76
Predicted Effect probably benign
Transcript: ENSMUST00000031333
AA Change: T121I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: T121I

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: ENSMUST00000153436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200670
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null 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
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'- CCCCTCAGCCGGCTCTTATA -3'
(R):5'- ACAAAGCTGGGAGGCATGTA -3'

Sequencing Primer
(F):5'- CTCTTATACCCGGGGAAGAACG -3'
(R):5'- CTGGGAGGCATGTAGGGAG -3'
Posted On 2018-06-06