Incidental Mutation 'IGL02298:Gtf2h2'
ID 290218
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02298
Quality Score
Status
Chromosome 13
Chromosomal Location 100596726-100629087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100617547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 205 (V205A)
Ref Sequence ENSEMBL: ENSMUSP00000138108 (fasta)
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 damaging
Transcript: ENSMUST00000066984
AA Change: V205A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065228
Gene: ENSMUSG00000021639
AA Change: V205A

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 damaging
Transcript: ENSMUST00000145266
AA Change: V205A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138108
Gene: ENSMUSG00000021639
AA Change: V205A

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
Validation Efficiency
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,580,044 (GRCm39) S2053P probably benign Het
Alkbh2 C T 5: 114,263,633 (GRCm39) E125K probably benign Het
Cd226 A T 18: 89,225,175 (GRCm39) D24V probably damaging Het
Clec2m T A 6: 129,308,527 (GRCm39) M1L probably benign Het
Dync1h1 G A 12: 110,607,322 (GRCm39) E2638K probably damaging Het
Fbxw5 G A 2: 25,394,456 (GRCm39) W143* probably null Het
Galk2 T C 2: 125,701,290 (GRCm39) S5P probably benign Het
Helb C A 10: 119,937,431 (GRCm39) Q604H probably damaging Het
Ifih1 A G 2: 62,440,783 (GRCm39) probably null Het
Map7d1 T C 4: 126,127,714 (GRCm39) E675G unknown Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Shc4 T C 2: 125,491,074 (GRCm39) H488R probably damaging Het
Speer1d T G 5: 11,307,158 (GRCm39) L12R probably damaging Het
Zfhx4 G A 3: 5,309,364 (GRCm39) probably null Het
Zfp451 A T 1: 33,812,002 (GRCm39) N904K probably damaging 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
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
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
Posted On 2015-04-16