Incidental Mutation 'R6338:Gtf2h1'
ID514326
Institutional Source Beutler Lab
Gene Symbol Gtf2h1
Ensembl Gene ENSMUSG00000006599
Gene Namegeneral transcription factor II H, polypeptide 1
Synonymsp62, 62kDa
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #R6338 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location46796103-46823800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46816456 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 450 (T450A)
Ref Sequence ENSEMBL: ENSMUSP00000103271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006774] [ENSMUST00000107644] [ENSMUST00000128420]
Predicted Effect probably benign
Transcript: ENSMUST00000006774
AA Change: T444A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006774
Gene: ENSMUSG00000006599
AA Change: T444A

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 benign
Transcript: ENSMUST00000107644
AA Change: T450A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103271
Gene: ENSMUSG00000006599
AA Change: T450A

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 noncoding transcript
Transcript: ENSMUST00000119337
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 T C 7: 98,257,715 Y128C probably damaging Het
Adam30 T G 3: 98,161,541 I102S probably damaging Het
Adcy8 A T 15: 64,920,617 D163E possibly damaging Het
Agrn C T 4: 156,170,585 E1614K probably benign Het
Aldh16a1 A T 7: 45,141,961 W107R probably damaging Het
Arfgef2 A G 2: 166,845,570 D238G probably damaging Het
Arhgap11a T C 2: 113,833,725 S738G probably benign Het
Arid5b C A 10: 68,098,561 G504* probably null Het
Carmil3 T C 14: 55,499,849 V763A possibly damaging Het
Cd209e T A 8: 3,849,154 D186V probably damaging Het
Cdh23 T C 10: 60,413,151 D882G probably damaging Het
Cdh4 T C 2: 179,890,812 V689A probably damaging Het
Cntn6 T A 6: 104,726,139 V174E probably damaging Het
Col7a1 C T 9: 108,956,633 T390M unknown Het
Crybg1 T C 10: 43,992,509 D1017G probably damaging Het
Csmd1 T G 8: 15,932,492 K2725T possibly damaging Het
Dnaaf2 T C 12: 69,198,122 E55G probably damaging Het
Fam13a A G 6: 58,953,499 V476A probably damaging Het
Fem1b A T 9: 62,797,011 D322E probably benign Het
Frmpd1 G A 4: 45,274,489 V466I probably benign Het
Gm11639 C T 11: 104,843,208 R2027* probably null Het
Gm20671 A T 5: 32,820,647 D1794E probably damaging Het
Gpatch2 G T 1: 187,225,514 R22L probably damaging Het
Kcnc2 G C 10: 112,271,856 G51R probably benign Het
Krit1 T G 5: 3,836,857 M702R probably benign Het
Krt34 T C 11: 100,038,490 N298S probably benign Het
Lrrcc1 T A 3: 14,547,316 N376K possibly damaging Het
Myo15 A G 11: 60,478,133 E573G probably damaging Het
Olfr1224-ps1 T A 2: 89,156,371 K268I probably damaging Het
Olfr1390 A G 11: 49,340,867 S112G probably benign Het
Olfr366 A T 2: 37,219,822 D111V probably damaging Het
Olfr391-ps A T 11: 73,799,319 L146Q possibly damaging Het
Olfr661 T A 7: 104,688,171 V52E possibly damaging Het
Olfr736 T A 14: 50,393,400 F215I possibly damaging Het
Phf20 A T 2: 156,273,686 Q309L possibly damaging Het
Plcd1 G A 9: 119,074,991 R292C probably damaging Het
Pold3 A G 7: 100,088,105 V342A possibly damaging Het
Polr2a A T 11: 69,739,679 probably null Het
Ptprcap A G 19: 4,156,224 E102G probably benign Het
Rab11fip5 T C 6: 85,341,378 E843G possibly damaging Het
Rai14 T C 15: 10,574,976 D632G probably damaging Het
Rnf149 A T 1: 39,560,742 C268S probably null Het
Slc6a13 T A 6: 121,334,839 F392I probably damaging Het
Slc7a11 C T 3: 50,384,043 probably null Het
Slf1 T A 13: 77,084,462 probably null Het
Stard9 G A 2: 120,697,485 V1408I probably benign Het
Suclg1 T C 6: 73,264,246 I183T probably damaging Het
Syne1 T C 10: 5,255,475 E3497G probably benign Het
Tax1bp1 C T 6: 52,729,376 R121* probably null Het
Tdpoz2 C T 3: 93,652,336 V110I probably benign Het
Ubn2 A G 6: 38,490,714 T788A probably benign Het
Unc13c T A 9: 73,734,447 I1255F probably damaging Het
Usp44 G T 10: 93,846,513 R275I probably damaging Het
Uspl1 A G 5: 149,215,034 N1015D probably benign Het
Wbp2nl G T 15: 82,299,045 W13C possibly damaging Het
Zc3h14 T A 12: 98,758,590 D170E 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
R6556:Gtf2h1 UTSW 7 46808665 missense probably damaging 1.00
R7102:Gtf2h1 UTSW 7 46819126 missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- AAATGTCGTTCATTCTGGTTGC -3'
(R):5'- ACCACTCCAGGTGCTGAATG -3'

Sequencing Primer
(F):5'- CATTCTGGTTGCTGTGCATAG -3'
(R):5'- TGGATACAGACGCTTACTGC -3'
Posted On2018-04-27