Incidental Mutation 'R3012:Gtf2h1'
ID 257533
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 # R3012 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 46445527-46473224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46453319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 84 (H84R)
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: H78R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: H78R

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: H84R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: H84R

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 possibly damaging
Transcript: ENSMUST00000165031
AA Change: H84R

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129337
Gene: ENSMUSG00000006599
AA Change: H84R

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: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 G T 19: 40,546,135 (GRCm39) Y585* probably null Het
Ankrd17 G A 5: 90,378,727 (GRCm39) P2563S probably damaging Het
Atg10 A T 13: 91,302,397 (GRCm39) F47Y probably damaging Het
Ccdc39 C T 3: 33,868,817 (GRCm39) R798Q probably damaging Het
Cfi A G 3: 129,668,579 (GRCm39) D535G probably damaging Het
Dennd11 T C 6: 40,412,926 (GRCm39) E45G probably benign Het
Dgat1 T A 15: 76,387,593 (GRCm39) Q308H possibly damaging Het
Dsp T C 13: 38,377,318 (GRCm39) I1701T possibly damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Fes G C 7: 80,036,915 (GRCm39) S56R possibly damaging Het
Gria1 G A 11: 57,180,260 (GRCm39) V737M probably damaging Het
Ifi208 A G 1: 173,523,136 (GRCm39) probably null Het
Il15 T A 8: 83,071,049 (GRCm39) N22I probably damaging Het
Me1 A G 9: 86,493,965 (GRCm39) S323P probably benign Het
Or10a5 T C 7: 106,635,569 (GRCm39) F69S possibly damaging Het
Parp4 T C 14: 56,832,873 (GRCm39) probably null Het
Pcdhga7 A G 18: 37,848,691 (GRCm39) T233A probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rpe65 G T 3: 159,310,200 (GRCm39) V128F possibly damaging Het
Slc5a11 GGTGC G 7: 122,838,595 (GRCm39) probably null Het
Tbc1d32 A G 10: 56,050,011 (GRCm39) V509A probably benign Het
Tln1 T A 4: 43,542,525 (GRCm39) T1428S probably benign Het
Ttc27 A T 17: 75,147,454 (GRCm39) I669F probably benign Het
Tubb3 T G 8: 124,147,975 (GRCm39) C303G probably damaging Het
Tulp2 G T 7: 45,168,187 (GRCm39) V188L probably damaging Het
Zfr T C 15: 12,166,249 (GRCm39) Y840H probably damaging 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
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
R6556:Gtf2h1 UTSW 7 46,458,089 (GRCm39) missense probably damaging 1.00
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'- CATGCGTGTATATGATGTGCTC -3'
(R):5'- ACAAGTGGTCCCAGTGAGAATC -3'

Sequencing Primer
(F):5'- CTCCAGGATTCCAGGTTAGGCTTAAG -3'
(R):5'- TGGTCCCAGTGAGAATCATGGC -3'
Posted On 2015-01-11