Incidental Mutation 'R4715:Gtf2h1'
ID 353946
Institutional Source Beutler Lab
Gene Symbol Gtf2h1
Ensembl Gene ENSMUSG00000006599
Gene Name general transcription factor II H, polypeptide 1
Synonyms p62, 62kDa
MMRRC Submission 041982-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock # R4715 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 46796103-46823800 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46815412 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 424 (T424A)
Ref Sequence ENSEMBL: ENSMUSP00000103271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006774] [ENSMUST00000107644] [ENSMUST00000128420]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006774
AA Change: T418A

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: T418A

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: T424A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: T424A

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
Meta Mutation Damage Score 0.0804 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 92% (86/93)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A C 19: 43,816,882 E725A possibly damaging Het
Abcc5 G T 16: 20,398,876 L362I probably damaging Het
Ammecr1l C T 18: 31,774,653 R179* probably null Het
Arap2 G T 5: 62,749,094 T194K probably benign Het
Atf2 C A 2: 73,823,300 V282F probably damaging Het
Atp1a1 T C 3: 101,591,806 E159G possibly damaging Het
B4galt2 T C 4: 117,877,179 S258G possibly damaging Het
Bptf G T 11: 107,047,181 H2695N probably damaging Het
Casq2 T C 3: 102,110,244 V80A probably benign Het
Ccdc130 A G 8: 84,263,874 I43T probably damaging Het
Cdc42ep3 G A 17: 79,335,458 A11V probably benign Het
Cdh4 A T 2: 179,780,467 H128L probably benign Het
Cdk5rap1 C A 2: 154,361,835 *191L probably null Het
Cfdp1 G A 8: 111,830,891 T206I probably benign Het
Cgn C A 3: 94,779,438 G185W probably damaging Het
Clpx A C 9: 65,312,114 R231S possibly damaging Het
Copg1 T A 6: 87,912,286 L870* probably null Het
Cyp4a10 A T 4: 115,525,338 D275V probably benign Het
Dip2a T C 10: 76,296,406 T504A probably benign Het
Dmxl2 A C 9: 54,446,405 probably null Het
Dnaaf5 A T 5: 139,178,000 I671F probably damaging Het
Dnah14 A G 1: 181,757,223 D3173G probably damaging Het
Dock2 T C 11: 34,294,118 Y1074C probably damaging Het
Dthd1 A C 5: 62,888,187 M765L probably benign Het
E2f3 A C 13: 29,911,275 C220W probably damaging Het
Elf3 C T 1: 135,257,752 S8N probably damaging Het
F2rl1 A T 13: 95,513,267 V369E probably damaging Het
Fam214a T A 9: 75,012,968 W799R probably damaging Het
Fpr-rs7 C T 17: 20,113,428 G267R probably benign Het
Ggact A T 14: 122,891,635 L56Q possibly damaging Het
Gm10698 A T 9: 33,728,488 noncoding transcript Het
Gm5546 T C 3: 104,366,508 noncoding transcript Het
Gm8267 A G 14: 44,717,835 V243A probably benign Het
Gucy1b2 A G 14: 62,423,017 V140A possibly damaging Het
Htatip2 T C 7: 49,770,844 L146P probably damaging Het
Htr1b T C 9: 81,631,510 D348G possibly damaging Het
Ifi205 T C 1: 174,028,321 I48V possibly damaging Het
Igkv18-36 C T 6: 69,992,591 R72K probably damaging Het
Kcnk7 T C 19: 5,706,253 L169P probably damaging Het
Klf17 T C 4: 117,760,536 D208G probably benign Het
Ltn1 A G 16: 87,418,494 F418L probably damaging Het
Map4k4 G A 1: 40,019,564 V1040I probably damaging Het
Mark1 A G 1: 184,912,132 V445A probably benign Het
Med11 T C 11: 70,453,196 I114T probably benign Het
Moxd2 A G 6: 40,887,247 V83A probably damaging Het
Mrpl33 A G 5: 31,616,358 probably benign Het
Mrps27 A G 13: 99,414,815 probably null Het
Nop58 T C 1: 59,696,026 V75A probably benign Het
Olfr1290 A C 2: 111,489,744 M138R probably benign Het
Olfr1339 T C 4: 118,734,655 L42P probably damaging Het
Olfr136 A C 17: 38,335,840 I228L possibly damaging Het
Olfr325 A G 11: 58,581,429 D195G probably damaging Het
Olfr832 A G 9: 18,945,446 H266R probably benign Het
Olfr844 C A 9: 19,319,147 F210L probably benign Het
Pdzd2 G T 15: 12,419,516 N263K possibly damaging Het
Podnl1 C A 8: 84,126,061 probably benign Het
Prkd3 G T 17: 78,951,937 H864N possibly damaging Het
Ptprd T C 4: 76,107,333 T543A probably benign Het
Pum2 T A 12: 8,747,272 I788N probably damaging Het
Ralgapa1 T A 12: 55,693,458 N1328I probably damaging Het
Rhoc T C 3: 104,794,039 L193P probably damaging Het
Rif1 T C 2: 52,073,139 probably benign Het
Rspo2 A T 15: 43,075,904 C163* probably null Het
Sco1 A G 11: 67,056,599 Y204C probably damaging Het
Shc2 T C 10: 79,622,379 K490R probably benign Het
Siglec1 T C 2: 131,074,436 D1198G probably damaging Het
Slc25a18 T C 6: 120,786,090 V31A probably damaging Het
Smpd5 A T 15: 76,295,693 I112L probably benign Het
Synpr CT C 14: 13,285,198 probably null Het
Tdrd9 T G 12: 112,041,689 S988A probably benign Het
Tiam2 T A 17: 3,454,168 F982I probably damaging Het
Tmc3 G A 7: 83,622,396 V919I probably benign Het
Tmem200c A T 17: 68,840,470 D16V probably damaging Het
Tmem37 A T 1: 120,068,205 D47E probably damaging Het
Top3a T A 11: 60,742,997 R733* probably null Het
Treh T C 9: 44,683,318 V8A probably benign Het
Trim17 A C 11: 58,968,450 probably benign Het
Ubash3b T C 9: 41,016,600 K471E probably damaging Het
Usp8 T A 2: 126,729,222 L144Q possibly damaging Het
Wnk2 T A 13: 49,147,232 M1L unknown 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
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
RF021:Gtf2h1 UTSW 7 46803865 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GCTGTAAGGGAATGTTTTGTTGATAC -3'
(R):5'- GCAACTACTTACATACAGCTCCT -3'

Sequencing Primer
(F):5'- TCTGTGCTGATACCTAGG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
Posted On 2015-10-21