Incidental Mutation 'R7184:Gtf2h3'
ID 559171
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 045236-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 124717211-124735743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124722067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 55 (N55S)
Ref Sequence ENSEMBL: ENSMUSP00000031333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031333] [ENSMUST00000031334] [ENSMUST00000135163] [ENSMUST00000135361] [ENSMUST00000198318]
AlphaFold Q8VD76
Predicted Effect probably benign
Transcript: ENSMUST00000031333
AA Change: N55S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: N55S

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: 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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) 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
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
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'- CCACGTAGCAAGACCCTTTC -3'
(R):5'- GTCTCCGAAGAAGTCTCCAAG -3'

Sequencing Primer
(F):5'- CGTAGCAAGACCCTTTCTTACAC -3'
(R):5'- GAAGTCTCCAAGTCCACCGTTC -3'
Posted On 2019-06-26