Incidental Mutation 'IGL00585:Gtf2h2'
ID4253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtf2h2
Ensembl Gene ENSMUSG00000021639
Gene Namegeneral transcription factor II H, polypeptide 2
Synonymsbasal transcription factor 2, p44 subunit, 44kDa, p44, Btf2p44
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00585
Quality Score
Status
Chromosome13
Chromosomal Location100460218-100492579 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 100480998 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000066940] [ENSMUST00000066984] [ENSMUST00000134842] [ENSMUST00000145266]
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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,300,320 I664F probably damaging Het
Abcg4 A T 9: 44,281,623 M142K probably benign Het
Afdn A G 17: 13,884,628 T1198A probably damaging Het
Angptl2 T C 2: 33,246,227 S475P probably damaging Het
Ap3s2 T C 7: 79,916,076 E34G probably benign Het
C1qtnf9 T C 14: 60,779,993 F324S probably damaging Het
Cacng7 A G 7: 3,366,031 Y170C probably damaging Het
Ceacam18 G A 7: 43,637,011 V103M possibly damaging Het
Chrnb1 G A 11: 69,793,916 P144S probably damaging Het
Chuk T C 19: 44,078,312 H652R probably damaging Het
Ckap5 C T 2: 91,619,825 L1948F probably damaging Het
Clstn1 A T 4: 149,638,312 H469L probably benign Het
Csf2rb2 C T 15: 78,284,847 G594S possibly damaging Het
Ctsq A T 13: 61,037,127 D248E probably benign Het
Ep400 A T 5: 110,755,905 I276K possibly damaging Het
Gbf1 G A 19: 46,284,249 probably null Het
Gldn T A 9: 54,338,464 I433N probably damaging Het
Gm136 T A 4: 34,752,322 E69V probably damaging Het
Gm28177 T C 1: 52,082,579 probably null Het
Ints12 T C 3: 133,100,809 probably null Het
Ltbp4 T C 7: 27,326,733 D615G probably damaging Het
Mgme1 C T 2: 144,271,989 P4S probably benign Het
Nae1 A G 8: 104,526,278 probably null Het
Nup133 G A 8: 123,909,994 A956V probably damaging Het
Oacyl T A 18: 65,749,640 M529K possibly damaging Het
Osbpl1a T A 18: 12,757,626 E519V possibly damaging Het
Pacs1 A T 19: 5,153,698 V333E probably damaging Het
Pik3c3 T G 18: 30,303,078 probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppp6r3 A G 19: 3,490,826 C431R probably damaging Het
Pprc1 T C 19: 46,062,648 S206P possibly damaging Het
Rab20 A G 8: 11,454,212 Y163H probably benign Het
Sde2 T A 1: 180,855,818 C46S possibly damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Spata20 T G 11: 94,479,117 L784F probably damaging Het
Tnnt1 A C 7: 4,507,550 M224R possibly damaging Het
Trank1 T C 9: 111,349,290 F349L possibly damaging Het
Ttf1 T C 2: 29,073,883 probably benign Het
Usp54 T A 14: 20,573,837 S651C probably damaging Het
Vps45 A G 3: 96,000,066 *571R probably null Het
Yod1 G A 1: 130,719,133 G249E probably damaging Het
Ythdc2 A G 18: 44,864,361 Y340C probably damaging Het
Zfp366 G A 13: 99,246,572 probably benign Het
Zfp648 T A 1: 154,204,189 D31E possibly damaging Het
Other mutations in Gtf2h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Gtf2h2 APN 13 100479221 missense probably benign 0.01
IGL01475:Gtf2h2 APN 13 100481033 missense probably damaging 1.00
IGL02298:Gtf2h2 APN 13 100481039 missense probably damaging 1.00
IGL02754:Gtf2h2 APN 13 100481239 missense probably damaging 1.00
R0602:Gtf2h2 UTSW 13 100469025 missense probably benign 0.03
R0621:Gtf2h2 UTSW 13 100488925 missense probably damaging 1.00
R0665:Gtf2h2 UTSW 13 100481054 missense probably damaging 1.00
R4709:Gtf2h2 UTSW 13 100469015 nonsense probably null
R4810:Gtf2h2 UTSW 13 100481002 critical splice donor site probably null
R5262:Gtf2h2 UTSW 13 100481848 unclassified probably benign
R5548:Gtf2h2 UTSW 13 100481036 missense possibly damaging 0.92
R5741:Gtf2h2 UTSW 13 100480558 missense probably benign 0.00
R6802:Gtf2h2 UTSW 13 100480543 missense probably benign 0.39
R7256:Gtf2h2 UTSW 13 100479201 missense probably benign 0.05
Posted On2012-04-20