Incidental Mutation 'RF021:Gtf2h1'
ID 603882
Institutional Source Beutler Lab
Gene Symbol Gtf2h1
Ensembl Gene ENSMUSG00000006599
Gene Name general transcription factor II H, polypeptide 1
Synonyms p62, 62kDa
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.969) question?
Stock # RF021 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 46796103-46823800 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 46803865 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 74 (V74G)
Ref Sequence ENSEMBL: ENSMUSP00000103271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006774] [ENSMUST00000107644] [ENSMUST00000128420] [ENSMUST00000165031]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000006774
AA Change: V68G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: V68G

DomainStartEndE-ValueType
Pfam:TFIIH_BTF_p62_N 9 81 6.8e-25 PFAM
BSD 99 154 8.89e-11 SMART
BSD 179 231 2.09e-16 SMART
low complexity region 417 434 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107644
AA Change: V74G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: V74G

DomainStartEndE-ValueType
Pfam:PH_TFIIH 22 103 8.5e-29 PFAM
BSD 105 160 8.89e-11 SMART
BSD 185 237 2.09e-16 SMART
low complexity region 423 440 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128420
SMART Domains Protein: ENSMUSP00000120008
Gene: ENSMUSG00000006599

DomainStartEndE-ValueType
Pfam:TFIIH_BTF_p62_N 9 51 1.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165031
AA Change: V74G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599
AA Change: V74G

DomainStartEndE-ValueType
Pfam:TFIIH_BTF_p62_N 15 87 5.5e-26 PFAM
Pfam:BSD 104 144 8.1e-8 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency 91% (50/55)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik TTATTATTATTAT TTATTATTATTATTAATATTATTATTAT 3: 37,050,748 probably benign Het
A030005L19Rik GTGGTGGCTG GTGGTGGCTGTGGTGGCTG 1: 82,913,569 probably benign Het
AI837181 CGG CGGTGG 19: 5,425,234 probably benign Het
Ankrd44 T C 1: 54,778,312 H79R probably damaging Het
Atg9a T A 1: 75,182,629 E826V probably damaging Het
Atrnl1 T C 19: 57,642,473 V224A probably benign Het
Cpn2 G A 16: 30,259,338 A515V probably benign Het
Cyp2a12 T C 7: 27,035,360 F402S possibly damaging Het
Defb22 TGCGGCA TGCGGCAGAGCTGGGCGTTGCGGCA 2: 152,485,832 probably benign Het
Diexf A G 1: 193,120,666 F248L probably benign Het
Dnah10 G T 5: 124,777,907 V2016F probably damaging Het
Dock10 T C 1: 80,564,573 probably null Het
Efhd2 GCC GCCGCCCCC 4: 141,874,773 probably benign Het
Fam131a A C 16: 20,694,940 probably benign Het
Gm6614 A T 6: 142,008,714 V31E probably damaging Het
Gm7247 AGACCAGACC A 14: 51,364,324 probably benign Het
Gna13 T C 11: 109,392,392 V186A probably benign Het
Grk3 T A 5: 112,941,688 I333L probably benign Het
Gstp1 A T 19: 4,035,507 V200E probably benign Het
Kcnh8 G A 17: 52,978,239 R1079H probably benign Het
Kiz A G 2: 146,870,830 D138G possibly damaging Het
Kmt2b TTCTCCT TTCTCCTTCTCCT 7: 30,586,357 probably benign Het
Lats1 A G 10: 7,710,608 T912A probably damaging Het
Lce1m GCTGCCACC GCTGCCACCACTTCTGCCACC 3: 93,018,269 probably benign Het
Lce1m TGCC TGCCGCCGCTGCCGCC 3: 93,018,295 probably benign Het
Lrrc2 TTGATTCGGTTCACC T 9: 110,981,676 probably null Het
Med12l T C 3: 59,073,290 F359S probably benign Het
Mut A G 17: 40,951,758 I444V probably benign Het
Ncoa2 CTTAAAA C 1: 13,149,109 probably benign Het
Ngp A G 9: 110,421,756 T114A possibly damaging Het
Nlrc5 A T 8: 94,476,888 T539S probably benign Het
Nxf1 A G 19: 8,772,309 D190G probably damaging Het
Olfr229 A T 9: 39,910,045 M81L probably benign Het
Olfr769 A T 10: 129,112,342 F28I probably damaging Het
Pramef25 C G 4: 143,948,908 Q449H probably damaging Het
Prdm15 G A 16: 97,808,756 H563Y probably damaging Het
Rbm12 CAGG CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG 2: 156,096,106 probably benign Het
Sema3g C T 14: 31,227,841 H660Y probably damaging Het
Smarca2 AGCAGCAGCAGCAGCAGCAGCA AGCAGCAGCAGCAGCAGCAGCAGCAGCA 19: 26,630,997 probably benign Het
Stpg2 A T 3: 139,212,250 probably null Het
Taar7f C T 10: 24,050,423 T305M possibly damaging Het
Tbcb C T 7: 30,224,346 V208M probably damaging Het
Tenm2 T A 11: 36,024,203 Q2169L possibly damaging Het
Tln1 A G 4: 43,555,890 V108A probably damaging Het
Tmc8 T C 11: 117,783,234 M42T probably benign Het
Trdc T C 14: 54,144,203 V115A Het
Ttbk2 A G 2: 120,748,634 V669A probably benign Het
Tusc1 GCC GCCACCACC 4: 93,335,316 probably benign Het
Vps16 A G 2: 130,438,209 H118R probably benign Het
Wdpcp T A 11: 21,711,587 C286* probably null Het
Zbed4 C A 15: 88,781,236 Y502* probably null Het
Zdbf2 T A 1: 63,302,652 N63K possibly damaging Het
Other mutations in Gtf2h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Gtf2h1 APN 7 46819210 missense possibly damaging 0.90
IGL01108:Gtf2h1 APN 7 46812498 missense probably damaging 1.00
IGL02054:Gtf2h1 APN 7 46815425 splice site probably benign
IGL02075:Gtf2h1 APN 7 46801741 missense probably damaging 1.00
IGL02309:Gtf2h1 APN 7 46816388 missense probably damaging 0.99
IGL02423:Gtf2h1 APN 7 46815400 missense probably benign
IGL02481:Gtf2h1 APN 7 46804993 missense probably damaging 1.00
IGL03159:Gtf2h1 APN 7 46806743 missense possibly damaging 0.80
R0136:Gtf2h1 UTSW 7 46815416 missense possibly damaging 0.49
R1073:Gtf2h1 UTSW 7 46816944 missense probably damaging 1.00
R1242:Gtf2h1 UTSW 7 46812751 critical splice donor site probably null
R1469:Gtf2h1 UTSW 7 46805125 critical splice donor site probably null
R1469:Gtf2h1 UTSW 7 46805125 critical splice donor site probably null
R1740:Gtf2h1 UTSW 7 46812466 missense probably null
R2192:Gtf2h1 UTSW 7 46815323 missense possibly damaging 0.73
R3012:Gtf2h1 UTSW 7 46803895 missense probably damaging 1.00
R4238:Gtf2h1 UTSW 7 46805065 missense probably benign
R4239:Gtf2h1 UTSW 7 46805065 missense probably benign
R4715:Gtf2h1 UTSW 7 46815412 missense possibly damaging 0.66
R4776:Gtf2h1 UTSW 7 46822878 nonsense probably null
R6193:Gtf2h1 UTSW 7 46806830 critical splice donor site probably null
R6338:Gtf2h1 UTSW 7 46816456 missense probably benign
R6556:Gtf2h1 UTSW 7 46808665 missense probably damaging 1.00
R7102:Gtf2h1 UTSW 7 46819126 missense probably benign 0.21
R8232:Gtf2h1 UTSW 7 46801679 missense probably benign 0.02
R8273:Gtf2h1 UTSW 7 46805050 missense probably benign 0.00
R8414:Gtf2h1 UTSW 7 46815344 missense possibly damaging 0.83
R9006:Gtf2h1 UTSW 7 46808838 missense probably benign 0.00
R9545:Gtf2h1 UTSW 7 46808688 critical splice donor site probably null
R9602:Gtf2h1 UTSW 7 46806795 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CGGTGCCATGCGTGTATATG -3'
(R):5'- ATGGCAATGACAGCACAGATC -3'

Sequencing Primer
(F):5'- CTCCAGGATTCCAGGTTAGGCTTAAG -3'
(R):5'- AGATCCCCACTCTCACCTG -3'
Posted On 2019-12-04