Incidental Mutation 'R5262:Gtf2h2'
ID 401523
Institutional Source Beutler Lab
Gene Symbol Gtf2h2
Ensembl Gene ENSMUSG00000021639
Gene Name general transcription factor II H, polypeptide 2
Synonyms Btf2p44, 44kDa, basal transcription factor 2, p44 subunit, p44
MMRRC Submission 042857-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5262 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 100596726-100629087 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 100618356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000066940] [ENSMUST00000066984] [ENSMUST00000134842] [ENSMUST00000145266]
AlphaFold Q9JIB4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000066940
SMART Domains Protein: ENSMUSP00000064590
Gene: ENSMUSG00000021639

DomainStartEndE-ValueType
Pfam:VWA_2 60 166 5e-9 PFAM
Pfam:Ssl1 64 166 1.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066984
SMART Domains Protein: ENSMUSP00000065228
Gene: ENSMUSG00000021639

DomainStartEndE-ValueType
VWA 58 240 1.02e-14 SMART
Blast:BIR 291 310 6e-7 BLAST
C1_4 345 388 3.13e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124698
Predicted Effect probably benign
Transcript: ENSMUST00000134842
SMART Domains Protein: ENSMUSP00000138748
Gene: ENSMUSG00000021639

DomainStartEndE-ValueType
Pfam:Ssl1 64 139 2.4e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142182
Predicted Effect probably benign
Transcript: ENSMUST00000145266
SMART Domains Protein: ENSMUSP00000138108
Gene: ENSMUSG00000021639

DomainStartEndE-ValueType
VWA 58 240 1.02e-14 SMART
Blast:BIR 291 310 6e-7 BLAST
C1_4 345 388 3.13e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000232450
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,390,557 (GRCm39) D821V possibly damaging Het
Ankdd1b C A 13: 96,557,281 (GRCm39) R384L probably damaging Het
Ces1e A G 8: 93,950,586 (GRCm39) F65S probably damaging Het
Cfap53 A C 18: 74,462,530 (GRCm39) S425R probably benign Het
Corin A G 5: 72,462,298 (GRCm39) V837A probably damaging Het
Cyp2d34 A T 15: 82,502,572 (GRCm39) V188E probably damaging Het
Defb26 A T 2: 152,349,878 (GRCm39) M134K unknown Het
Dnah10 A C 5: 124,862,220 (GRCm39) K2158N probably damaging Het
Dnah9 C T 11: 66,003,159 (GRCm39) V882M probably benign Het
Dpyd C A 3: 118,591,071 (GRCm39) Y186* probably null Het
Elovl1 G A 4: 118,288,124 (GRCm39) probably benign Het
Fars2 T A 13: 36,526,001 (GRCm39) I329N probably damaging Het
Gstm1 T A 3: 107,923,679 (GRCm39) M109L probably benign Het
Gtf2e1 T C 16: 37,356,293 (GRCm39) T80A probably damaging Het
Hrh4 G T 18: 13,148,870 (GRCm39) L77F probably damaging Het
Ifi47 A G 11: 48,986,559 (GRCm39) T109A probably benign Het
Igsf5 G T 16: 96,192,237 (GRCm39) E179* probably null Het
Ints8 A G 4: 11,211,916 (GRCm39) I885T probably damaging Het
Iqgap1 T G 7: 80,376,490 (GRCm39) I1341L probably benign Het
Kmt2b A G 7: 30,269,219 (GRCm39) L2567P probably damaging Het
Lilrb4a T C 10: 51,369,303 (GRCm39) probably null Het
Maip1 G A 1: 57,446,131 (GRCm39) R67H probably damaging Het
Muc6 T A 7: 141,237,375 (GRCm39) I254F possibly damaging Het
Nfkb1 A T 3: 135,318,173 (GRCm39) probably null Het
Nlrp4a T C 7: 26,159,236 (GRCm39) probably null Het
Nrap A T 19: 56,308,655 (GRCm39) I1477N possibly damaging Het
Pdgfa A G 5: 138,979,049 (GRCm39) S52P probably benign Het
Pou1f1 G T 16: 65,328,868 (GRCm39) E196* probably null Het
Ppp2r5e G A 12: 75,640,045 (GRCm39) R19W probably damaging Het
Ptn T A 6: 36,721,419 (GRCm39) Q7L probably benign Het
Rbp3 G T 14: 33,676,807 (GRCm39) A252S probably damaging Het
Rcor2 G T 19: 7,251,426 (GRCm39) V313L probably damaging Het
Rtp3 A T 9: 110,815,195 (GRCm39) probably benign Het
Ryr2 T C 13: 11,787,323 (GRCm39) T1017A probably damaging Het
Scgb2b11 T C 7: 31,908,776 (GRCm39) N108S probably benign Het
Sgo2b C A 8: 64,396,171 (GRCm39) L28F probably damaging Het
Shroom3 A G 5: 93,112,432 (GRCm39) E1850G probably damaging Het
Slc16a14 A G 1: 84,890,612 (GRCm39) L231P probably benign Het
Slfn5 A G 11: 82,847,496 (GRCm39) E127G possibly damaging Het
Snx16 C T 3: 10,502,892 (GRCm39) M118I probably damaging Het
Snx21 T C 2: 164,633,741 (GRCm39) F176L probably damaging Het
Tap2 A G 17: 34,432,990 (GRCm39) N424S probably benign Het
Tcf7l1 T C 6: 72,613,449 (GRCm39) probably benign Het
Trappc8 C T 18: 20,951,247 (GRCm39) V1400I probably benign Het
Trim58 T C 11: 58,542,494 (GRCm39) Y485H possibly damaging Het
U2af1l4 C T 7: 30,263,638 (GRCm39) T65I probably benign Het
Ufl1 G T 4: 25,251,294 (GRCm39) probably benign Het
Usp8 A G 2: 126,593,031 (GRCm39) N762S probably damaging Het
Virma A T 4: 11,539,926 (GRCm39) D1465V probably benign Het
Vmn1r48 A T 6: 90,013,016 (GRCm39) S270T probably benign Het
Vrk2 T A 11: 26,541,697 (GRCm39) Y9F possibly damaging Het
Wwp1 A G 4: 19,631,057 (GRCm39) F659L probably damaging Het
Zbtb24 C T 10: 41,340,556 (GRCm39) Q529* probably null Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Gtf2h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Gtf2h2 APN 13 100,617,506 (GRCm39) unclassified probably benign
IGL00780:Gtf2h2 APN 13 100,615,729 (GRCm39) missense probably benign 0.01
IGL01475:Gtf2h2 APN 13 100,617,541 (GRCm39) missense probably damaging 1.00
IGL02298:Gtf2h2 APN 13 100,617,547 (GRCm39) missense probably damaging 1.00
IGL02754:Gtf2h2 APN 13 100,617,747 (GRCm39) missense probably damaging 1.00
R0602:Gtf2h2 UTSW 13 100,605,533 (GRCm39) missense probably benign 0.03
R0621:Gtf2h2 UTSW 13 100,625,433 (GRCm39) missense probably damaging 1.00
R0665:Gtf2h2 UTSW 13 100,617,562 (GRCm39) missense probably damaging 1.00
R4709:Gtf2h2 UTSW 13 100,605,523 (GRCm39) nonsense probably null
R4810:Gtf2h2 UTSW 13 100,617,510 (GRCm39) critical splice donor site probably null
R5548:Gtf2h2 UTSW 13 100,617,544 (GRCm39) missense possibly damaging 0.92
R5741:Gtf2h2 UTSW 13 100,617,066 (GRCm39) missense probably benign 0.00
R6802:Gtf2h2 UTSW 13 100,617,051 (GRCm39) missense probably benign 0.39
R7256:Gtf2h2 UTSW 13 100,615,709 (GRCm39) missense probably benign 0.05
R8355:Gtf2h2 UTSW 13 100,605,503 (GRCm39) missense possibly damaging 0.89
R9139:Gtf2h2 UTSW 13 100,617,778 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAGAGTAAACATGGTTTATTCAG -3'
(R):5'- CATGGGTCTCTATGAAGCCTG -3'

Sequencing Primer
(F):5'- CAATCTCTCTCAAAAAGGTGGGTG -3'
(R):5'- GGGTCTCTATGAAGCCTGTTATAAC -3'
Posted On 2016-07-06