Incidental Mutation 'R6556:Gtf2h1'
ID 522164
Institutional Source Beutler Lab
Gene Symbol Gtf2h1
Ensembl Gene ENSMUSG00000006599
Gene Name general transcription factor II H, polypeptide 1
Synonyms p62, 62kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R6556 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 46445527-46473224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46458089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 245 (C245S)
Ref Sequence ENSEMBL: ENSMUSP00000006774 (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: C245S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: C245S

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 probably damaging
Transcript: ENSMUST00000107644
AA Change: C251S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: C251S

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 noncoding transcript
Transcript: ENSMUST00000144708
Predicted Effect probably benign
Transcript: ENSMUST00000165031
SMART Domains Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atosb C T 4: 43,033,896 (GRCm39) R460H probably damaging Het
Atp2a1 G T 7: 126,049,434 (GRCm39) P536Q probably benign Het
Bnip5 T A 17: 29,123,585 (GRCm39) D114V probably damaging Het
Cabyr T A 18: 12,884,073 (GRCm39) S187T probably benign Het
Camkk1 A T 11: 72,924,696 (GRCm39) N303I probably benign Het
Cdh13 C T 8: 119,694,926 (GRCm39) P259S probably damaging Het
Csnk1g3 A G 18: 54,063,354 (GRCm39) D255G possibly damaging Het
Dennd5b A C 6: 148,915,749 (GRCm39) probably null Het
Dnajc14 A G 10: 128,650,500 (GRCm39) D528G probably benign Het
Edem1 T C 6: 108,831,318 (GRCm39) F593S probably benign Het
Efcab3 A G 11: 104,899,077 (GRCm39) N4343S probably null Het
Erbb2 G A 11: 98,326,908 (GRCm39) D1106N possibly damaging Het
Ermp1 T C 19: 29,590,321 (GRCm39) M794V possibly damaging Het
Fip1l1 T A 5: 74,707,838 (GRCm39) probably null Het
Gm20730 C T 6: 43,058,476 (GRCm39) C112Y probably damaging Het
Hdhd5 T C 6: 120,500,515 (GRCm39) H61R probably benign Het
Ighv1-71 A T 12: 115,706,092 (GRCm39) V31E probably damaging Het
Igsf9b T C 9: 27,240,851 (GRCm39) F688S probably damaging Het
Iqcd T C 5: 120,740,443 (GRCm39) V258A probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Lpo G T 11: 87,708,589 (GRCm39) Y136* probably null Het
Med30 A G 15: 52,593,779 (GRCm39) probably benign Het
Mertk T A 2: 128,618,341 (GRCm39) V524D probably benign Het
Ndufb11b A G 15: 81,864,939 (GRCm39) D60G probably damaging Het
Or4c126 T A 2: 89,824,517 (GRCm39) F260Y probably benign Het
Or4c52 T C 2: 89,845,438 (GRCm39) Y55H probably damaging Het
Or5l13 T C 2: 87,780,320 (GRCm39) I86V probably benign Het
Pde6b T A 5: 108,569,367 (GRCm39) M358K possibly damaging Het
Prep GA G 10: 45,034,410 (GRCm39) probably null Het
Prpf4b G A 13: 35,080,015 (GRCm39) R793Q probably damaging Het
Rela T A 19: 5,697,366 (GRCm39) N524K probably damaging Het
Relch T A 1: 105,654,165 (GRCm39) F845I probably damaging Het
Rnaset2a T C 17: 8,360,480 (GRCm39) D74G probably damaging Het
Semp2l2a G A 8: 13,887,690 (GRCm39) Q134* probably null Het
Serinc2 T A 4: 130,152,064 (GRCm39) I267F probably damaging Het
Sesn3 T C 9: 14,232,549 (GRCm39) F274S possibly damaging Het
Spag1 T C 15: 36,195,553 (GRCm39) Y249H probably damaging Het
Sstr1 A T 12: 58,260,478 (GRCm39) D367V possibly damaging Het
Tasor T G 14: 27,151,215 (GRCm39) Y64D probably benign Het
Tnnt1 T C 7: 4,512,576 (GRCm39) E110G probably damaging Het
Tpm1 T A 9: 66,935,451 (GRCm39) probably null Het
Unc93b1 T C 19: 3,994,105 (GRCm39) V412A probably benign Het
Uox G C 3: 146,330,403 (GRCm39) probably null Het
Usp44 T C 10: 93,681,870 (GRCm39) Y107H probably benign Het
Other mutations in Gtf2h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Gtf2h1 APN 7 46,468,634 (GRCm39) missense possibly damaging 0.90
IGL01108:Gtf2h1 APN 7 46,461,922 (GRCm39) missense probably damaging 1.00
IGL02054:Gtf2h1 APN 7 46,464,849 (GRCm39) splice site probably benign
IGL02075:Gtf2h1 APN 7 46,451,165 (GRCm39) missense probably damaging 1.00
IGL02309:Gtf2h1 APN 7 46,465,812 (GRCm39) missense probably damaging 0.99
IGL02423:Gtf2h1 APN 7 46,464,824 (GRCm39) missense probably benign
IGL02481:Gtf2h1 APN 7 46,454,417 (GRCm39) missense probably damaging 1.00
IGL03159:Gtf2h1 APN 7 46,456,167 (GRCm39) missense possibly damaging 0.80
R0136:Gtf2h1 UTSW 7 46,464,840 (GRCm39) missense possibly damaging 0.49
R1073:Gtf2h1 UTSW 7 46,466,368 (GRCm39) missense probably damaging 1.00
R1242:Gtf2h1 UTSW 7 46,462,175 (GRCm39) critical splice donor site probably null
R1469:Gtf2h1 UTSW 7 46,454,549 (GRCm39) critical splice donor site probably null
R1469:Gtf2h1 UTSW 7 46,454,549 (GRCm39) critical splice donor site probably null
R1740:Gtf2h1 UTSW 7 46,461,890 (GRCm39) missense probably null
R2192:Gtf2h1 UTSW 7 46,464,747 (GRCm39) missense possibly damaging 0.73
R3012:Gtf2h1 UTSW 7 46,453,319 (GRCm39) missense probably damaging 1.00
R4238:Gtf2h1 UTSW 7 46,454,489 (GRCm39) missense probably benign
R4239:Gtf2h1 UTSW 7 46,454,489 (GRCm39) missense probably benign
R4715:Gtf2h1 UTSW 7 46,464,836 (GRCm39) missense possibly damaging 0.66
R4776:Gtf2h1 UTSW 7 46,472,302 (GRCm39) nonsense probably null
R6193:Gtf2h1 UTSW 7 46,456,254 (GRCm39) critical splice donor site probably null
R6338:Gtf2h1 UTSW 7 46,465,880 (GRCm39) missense probably benign
R7102:Gtf2h1 UTSW 7 46,468,550 (GRCm39) missense probably benign 0.21
R8232:Gtf2h1 UTSW 7 46,451,103 (GRCm39) missense probably benign 0.02
R8273:Gtf2h1 UTSW 7 46,454,474 (GRCm39) missense probably benign 0.00
R8414:Gtf2h1 UTSW 7 46,464,768 (GRCm39) missense possibly damaging 0.83
R9006:Gtf2h1 UTSW 7 46,458,262 (GRCm39) missense probably benign 0.00
R9545:Gtf2h1 UTSW 7 46,458,112 (GRCm39) critical splice donor site probably null
R9602:Gtf2h1 UTSW 7 46,456,219 (GRCm39) missense possibly damaging 0.93
RF021:Gtf2h1 UTSW 7 46,453,289 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GGTTCTTAAGAGCTAGGAACTCAC -3'
(R):5'- TCTAATGGCTTATCTTCCAACGATGTC -3'

Sequencing Primer
(F):5'- AAGAGCTAGGAACTCACTCTATAAG -3'
(R):5'- CCAACGATGTCAAATCTAGCATTGGG -3'
Posted On 2018-06-06