Incidental Mutation 'IGL01118:Gtf2h3'
ID51136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2h3
Ensembl Gene ENSMUSG00000029387
Gene Namegeneral transcription factor IIH, polypeptide 3
Synonyms34kDa, BTF2, D5Ertd679e, 5033417D07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL01118
Quality Score
Status
Chromosome5
Chromosomal Location124579140-124597680 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124595668 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 268 (V268A)
Ref Sequence ENSEMBL: ENSMUSP00000031333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031333]
Predicted Effect probably damaging
Transcript: ENSMUST00000031333
AA Change: V268A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: V268A

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: ENSMUST00000126466
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: ENSMUST00000142746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185820
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Amdhd1 A T 10: 93,531,568 D241E probably benign Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm21319 T A 12: 87,773,442 N116Y probably damaging Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Igkv3-2 A T 6: 70,698,994 S96C probably damaging Het
Mgl2 A G 11: 70,134,189 E12G probably benign Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Nkrf A G X: 36,888,757 F624S probably damaging Het
Noto T C 6: 85,424,210 S74P probably benign Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Ttf2 A G 3: 100,967,097 probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Zdhhc15 G T X: 104,598,106 Q82K probably benign Het
Other mutations in Gtf2h3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Gtf2h3 APN 5 124595685 missense probably damaging 1.00
IGL01681:Gtf2h3 APN 5 124594791 missense probably damaging 1.00
IGL03097:Gtf2h3 UTSW 5 124602168 unclassified probably benign
R0599:Gtf2h3 UTSW 5 124588628 missense probably benign 0.00
R1512:Gtf2h3 UTSW 5 124590870 missense probably damaging 0.99
R1727:Gtf2h3 UTSW 5 124590356 missense probably benign 0.00
R1880:Gtf2h3 UTSW 5 124584273 missense probably benign 0.00
R1881:Gtf2h3 UTSW 5 124584273 missense probably benign 0.00
R1929:Gtf2h3 UTSW 5 124602199 unclassified probably benign
R2149:Gtf2h3 UTSW 5 124599785 unclassified probably benign
R2359:Gtf2h3 UTSW 5 124590876 missense probably damaging 1.00
R2993:Gtf2h3 UTSW 5 124583934 missense probably benign 0.00
R4399:Gtf2h3 UTSW 5 124602063 unclassified probably benign
R4551:Gtf2h3 UTSW 5 124590419 intron probably benign
R5282:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5289:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5566:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5567:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5569:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5570:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5581:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5583:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5709:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5784:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5967:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R5968:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R6036:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R6050:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R6518:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R6519:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R6520:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R6526:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R6528:Gtf2h3 UTSW 5 124584297 missense probably benign 0.00
R7176:Gtf2h3 UTSW 5 124590370 missense probably damaging 0.99
R7184:Gtf2h3 UTSW 5 124584004 missense probably benign 0.22
Z1176:Gtf2h3 UTSW 5 124579175 unclassified probably benign
Posted On2013-06-21