Incidental Mutation 'R6802:Gtf2h2'
ID 533396
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 044915-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6802 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 100596726-100629087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100617051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 252 (M252V)
Ref Sequence ENSEMBL: ENSMUSP00000065228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066984] [ENSMUST00000134842] [ENSMUST00000145266]
AlphaFold Q9JIB4
Predicted Effect probably benign
Transcript: ENSMUST00000066984
AA Change: M252V

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000065228
Gene: ENSMUSG00000021639
AA Change: M252V

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: ENSMUST00000134842
SMART Domains Protein: ENSMUSP00000138748
Gene: ENSMUSG00000021639

DomainStartEndE-ValueType
Pfam:Ssl1 64 139 2.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145266
AA Change: M252V

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138108
Gene: ENSMUSG00000021639
AA Change: M252V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (54/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik A T 7: 115,698,725 (GRCm39) K38N probably damaging Het
Agap3 T A 5: 24,692,791 (GRCm39) I408N possibly damaging Het
Apold1 G A 6: 134,960,693 (GRCm39) R49H probably damaging Het
Arfgef1 A T 1: 10,259,677 (GRCm39) M597K probably benign Het
Bsn C T 9: 107,987,823 (GRCm39) probably benign Het
Ccdc177 A T 12: 80,806,057 (GRCm39) D72E probably damaging Het
Coa8 G T 12: 111,717,625 (GRCm39) G162W probably benign Het
Ctdp1 A T 18: 80,463,656 (GRCm39) probably null Het
Ctsj A T 13: 61,150,888 (GRCm39) L190M probably benign Het
Dhx57 A G 17: 80,582,750 (GRCm39) F285S probably benign Het
Dnah2 A T 11: 69,314,516 (GRCm39) V4051E probably damaging Het
F5 A T 1: 164,006,925 (GRCm39) D243V probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fbxo30 G T 10: 11,167,224 (GRCm39) G649C probably damaging Het
Focad T C 4: 88,192,440 (GRCm39) S590P unknown Het
Focad G A 4: 88,262,921 (GRCm39) V973I unknown Het
Glb1l3 T C 9: 26,770,648 (GRCm39) probably null Het
Gli2 G A 1: 118,769,795 (GRCm39) R586C probably damaging Het
Gm6401 T A 14: 41,788,874 (GRCm39) E65V probably damaging Het
Gml2 T A 15: 74,696,095 (GRCm39) L163H probably damaging Het
Grm6 A T 11: 50,744,216 (GRCm39) Q229L probably benign Het
Hsf4 G A 8: 106,001,300 (GRCm39) G309S probably damaging Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Irgq A G 7: 24,231,076 (GRCm39) E89G probably benign Het
Kcnj6 T C 16: 94,563,436 (GRCm39) N354S probably benign Het
Lrguk A G 6: 34,039,392 (GRCm39) H301R probably damaging Het
Mc4r C A 18: 66,992,488 (GRCm39) M208I probably benign Het
Mrpl15 A G 1: 4,846,953 (GRCm39) S208P probably benign Het
Neil2 A G 14: 63,429,263 (GRCm39) F10S probably damaging Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Or12k7 A G 2: 36,958,427 (GRCm39) M37V probably benign Het
Or4c100 A G 2: 88,355,941 (GRCm39) T5A probably benign Het
Or8k22 G T 2: 86,163,529 (GRCm39) T57K possibly damaging Het
Pacs1 T C 19: 5,202,812 (GRCm39) I357V probably damaging Het
Pla2g15 T C 8: 106,877,213 (GRCm39) L32P probably damaging Het
Pms1 A T 1: 53,245,951 (GRCm39) S529R probably benign Het
Prkra A T 2: 76,463,881 (GRCm39) D260E probably damaging Het
Qsox1 A C 1: 155,671,139 (GRCm39) F127V probably damaging Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Robo1 T G 16: 72,730,201 (GRCm39) V214G probably benign Het
Ryr2 G A 13: 11,701,852 (GRCm39) A2935V probably damaging Het
Sgtb A T 13: 104,268,558 (GRCm39) Q198L probably benign Het
Slc39a12 C T 2: 14,424,896 (GRCm39) L376F probably benign Het
Socs1 C A 16: 10,602,222 (GRCm39) V172L probably benign Het
Sprr2k A G 3: 92,340,671 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,939 (GRCm39) probably benign Het
Tph2 A T 10: 115,020,778 (GRCm39) M6K probably damaging Het
Trav16 T A 14: 53,980,941 (GRCm39) C43* probably null Het
Ttll5 A G 12: 85,926,160 (GRCm39) E318G probably damaging Het
Vmn2r90 T A 17: 17,932,351 (GRCm39) I86N probably damaging Het
Zdhhc19 T C 16: 32,325,176 (GRCm39) S165P possibly damaging Het
Zfp352 A T 4: 90,113,437 (GRCm39) T526S 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
R5262:Gtf2h2 UTSW 13 100,618,356 (GRCm39) unclassified probably benign
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
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'- TTATCAACAAACAGGATAGGTGGC -3'
(R):5'- TGCAAGGAGTTCTCAATAGGTCAG -3'

Sequencing Primer
(F):5'- CAAACAGGATAGGTGGCTTTAATTTC -3'
(R):5'- CTTTCAAAAAGGTAGCAATCTCACTC -3'
Posted On 2018-09-12