Incidental Mutation 'R8723:Gtf2h5'
ID 662246
Institutional Source Beutler Lab
Gene Symbol Gtf2h5
Ensembl Gene ENSMUSG00000034345
Gene Name general transcription factor IIH, polypeptide 5
Synonyms 2700017P07Rik, 2810432H05Rik, D17Wsu155e
MMRRC Submission 068615-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8723 (G1)
Quality Score 217.468
Status Validated
Chromosome 17
Chromosomal Location 6130103-6135763 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) C to CA at 6134833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024570] [ENSMUST00000039487] [ENSMUST00000097432] [ENSMUST00000100955]
AlphaFold Q8K2X8
Predicted Effect probably benign
Transcript: ENSMUST00000024570
SMART Domains Protein: ENSMUSP00000024570
Gene: ENSMUSG00000015659

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
low complexity region 161 169 N/A INTRINSIC
low complexity region 202 215 N/A INTRINSIC
SCOP:d1jdha_ 243 336 3e-5 SMART
Pfam:PGAP1 360 519 3.4e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000039487
SMART Domains Protein: ENSMUSP00000040355
Gene: ENSMUSG00000034345

DomainStartEndE-ValueType
Pfam:Tbf5 1 70 3.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097432
SMART Domains Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
SCOP:d1gw5a_ 89 464 3e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000100955
SMART Domains Protein: ENSMUSP00000098515
Gene: ENSMUSG00000034345

DomainStartEndE-ValueType
Pfam:Tfb5 1 68 6.8e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,360,897 (GRCm39) H465Q probably benign Het
Adam29 T C 8: 56,324,513 (GRCm39) H647R probably damaging Het
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Adgrg7 T G 16: 56,582,282 (GRCm39) R285S probably benign Het
Alkbh1 A G 12: 87,485,278 (GRCm39) V115A probably benign Het
Ankrd50 A C 3: 38,511,453 (GRCm39) F305V probably damaging Het
Anpep A G 7: 79,488,686 (GRCm39) S414P probably damaging Het
Anxa3 A G 5: 96,986,206 (GRCm39) I282V probably benign Het
Aoah T G 13: 21,184,180 (GRCm39) Y415D possibly damaging Het
Cacna1b A G 2: 24,548,510 (GRCm39) V1188A probably damaging Het
Cnot1 A G 8: 96,462,907 (GRCm39) I1651T probably benign Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Ctnnd1 G A 2: 84,450,384 (GRCm39) P279S probably benign Het
Dnah10 A T 5: 124,891,685 (GRCm39) E3298V probably damaging Het
Ear14 C T 14: 51,441,513 (GRCm39) T123I possibly damaging Het
Elf3 A G 1: 135,185,385 (GRCm39) L43P possibly damaging Het
Exoc3l4 T A 12: 111,397,092 (GRCm39) probably benign Het
Figla A G 6: 85,997,724 (GRCm39) T151A probably benign Het
Fsd1l A G 4: 53,647,001 (GRCm39) E56G unknown Het
Gm49359 A T 13: 62,602,410 (GRCm39) H263Q probably damaging Het
Gprc6a A T 10: 51,491,518 (GRCm39) C744S probably damaging Het
Grhl1 G A 12: 24,662,244 (GRCm39) probably benign Het
Itih3 T A 14: 30,630,761 (GRCm39) Q850L probably damaging Het
Kcnq5 A G 1: 21,575,591 (GRCm39) V285A probably damaging Het
Klc4 T G 17: 46,951,626 (GRCm39) E165A probably benign Het
Lrp2 T C 2: 69,316,648 (GRCm39) Y2111C probably damaging Het
Lyst A G 13: 13,887,342 (GRCm39) E3057G possibly damaging Het
Macf1 G A 4: 123,348,910 (GRCm39) Q4006* probably null Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Ms4a20 A G 19: 11,083,055 (GRCm39) Y122H probably damaging Het
Myh14 A G 7: 44,272,407 (GRCm39) F1466S probably damaging Het
Nrip1 T C 16: 76,089,553 (GRCm39) D668G probably damaging Het
Or5w17 T C 2: 87,583,501 (GRCm39) T279A possibly damaging Het
Or8k3 A T 2: 86,058,786 (GRCm39) H176Q probably damaging Het
P2rx1 C A 11: 72,899,756 (GRCm39) N120K probably benign Het
Pif1 T A 9: 65,501,673 (GRCm39) M569K probably damaging Het
Prkd2 G A 7: 16,591,702 (GRCm39) V578I possibly damaging Het
Rhobtb1 A G 10: 69,106,101 (GRCm39) Y284C probably damaging Het
Rps6kb1 T C 11: 86,410,757 (GRCm39) T164A possibly damaging Het
Rxfp1 T C 3: 79,557,802 (GRCm39) T559A probably benign Het
Sag G A 1: 87,751,175 (GRCm39) probably null Het
Smoc1 G A 12: 81,182,586 (GRCm39) V138I possibly damaging Het
Spag5 T A 11: 78,212,215 (GRCm39) I1081N probably damaging Het
Stk25 A G 1: 93,553,666 (GRCm39) I203T probably damaging Het
Strip2 T A 6: 29,941,863 (GRCm39) V611E probably damaging Het
Sulf1 A T 1: 12,856,911 (GRCm39) D54V probably damaging Het
Tacr2 A G 10: 62,094,107 (GRCm39) D188G probably damaging Het
Tmem237 A T 1: 59,145,731 (GRCm39) Y358N probably damaging Het
Trim27 A C 13: 21,374,807 (GRCm39) probably benign Het
Tsen34 A G 7: 3,698,149 (GRCm39) E139G probably benign Het
Ttc39a T A 4: 109,300,700 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,671,899 (GRCm39) I781N probably damaging Het
Uqcc1 C T 2: 155,729,100 (GRCm39) W21* probably null Het
Vmn2r117 A T 17: 23,696,343 (GRCm39) W355R probably damaging Het
Vmn2r89 T C 14: 51,693,910 (GRCm39) V420A probably benign Het
Zdhhc21 A T 4: 82,762,439 (GRCm39) I52K probably benign Het
Other mutations in Gtf2h5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Gtf2h5 APN 17 6,131,106 (GRCm39) splice site probably null
R2220:Gtf2h5 UTSW 17 6,134,853 (GRCm39) missense probably benign
R5664:Gtf2h5 UTSW 17 6,134,799 (GRCm39) missense probably damaging 1.00
R7418:Gtf2h5 UTSW 17 6,134,903 (GRCm39) missense probably damaging 1.00
R8724:Gtf2h5 UTSW 17 6,134,833 (GRCm39) frame shift probably null
R8743:Gtf2h5 UTSW 17 6,134,833 (GRCm39) frame shift probably null
R8744:Gtf2h5 UTSW 17 6,134,833 (GRCm39) frame shift probably null
R8753:Gtf2h5 UTSW 17 6,134,833 (GRCm39) frame shift probably null
R8754:Gtf2h5 UTSW 17 6,134,833 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTCGTCCTGAAAAGTCACCACTC -3'
(R):5'- CTGAATGAATGACCCTGCAGC -3'

Sequencing Primer
(F):5'- ACCACTCTCAGAAGTGGTTG -3'
(R):5'- GAATGAATGACCCTGCAGCCTTTC -3'
Posted On 2021-03-08