Incidental Mutation 'IGL01786:Tor1a'
ID278917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tor1a
Ensembl Gene ENSMUSG00000026849
Gene Nametorsin family 1, member A (torsin A)
SynonymsDQ2, Dyt1, Tor1a, torsinA
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01786
Quality Score
Status
Chromosome2
Chromosomal Location30960627-30967933 bp(-) (GRCm38)
Type of Mutationunclassified (4688 bp from exon)
DNA Base Change (assembly) A to G at 30963703 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028199] [ENSMUST00000028200] [ENSMUST00000156711]
Predicted Effect probably null
Transcript: ENSMUST00000028199
SMART Domains Protein: ENSMUSP00000028199
Gene: ENSMUSG00000026848

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
AAA 101 244 1.64e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000028200
AA Change: I205T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028200
Gene: ENSMUSG00000026849
AA Change: I205T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Torsin 45 170 3.2e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144152
Predicted Effect probably benign
Transcript: ENSMUST00000156711
SMART Domains Protein: ENSMUSP00000120415
Gene: ENSMUSG00000026848

DomainStartEndE-ValueType
Pfam:Torsin 1 100 1.4e-41 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die either embryonically or very soon after birth. Heterozygous males display hyperactivity and coordination difficulties. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 T A 8: 24,996,839 H20L probably damaging Het
Ano3 T A 2: 110,682,715 Q645L probably damaging Het
Clasp1 T A 1: 118,497,736 L272Q possibly damaging Het
Corin T C 5: 72,339,876 N532S probably damaging Het
Ddx1 A T 12: 13,229,136 D468E probably benign Het
Hk2 A G 6: 82,739,553 S333P probably benign Het
Kctd19 T C 8: 105,390,304 T398A probably benign Het
Klra8 T A 6: 130,119,068 probably null Het
Mcm8 A G 2: 132,827,948 D314G probably benign Het
Mga T A 2: 119,902,912 D80E probably damaging Het
Mylk3 T C 8: 85,359,317 Q36R probably benign Het
Myom2 T C 8: 15,106,330 S726P probably damaging Het
Nuf2 T C 1: 169,510,483 S242G possibly damaging Het
Nup210l T A 3: 90,122,776 Y265* probably null Het
Olfr1445 C T 19: 12,884,277 T132I probably damaging Het
Olfr530 T A 7: 140,373,125 M162L probably benign Het
Otud3 T C 4: 138,896,897 D278G probably benign Het
Papolg A G 11: 23,874,488 V298A probably damaging Het
Phc1 T C 6: 122,319,520 D847G possibly damaging Het
Pkd2l1 A G 19: 44,191,442 F110L probably damaging Het
Plxnd1 T A 6: 115,959,935 T1638S probably damaging Het
Polr3a G A 14: 24,484,120 Q106* probably null Het
Rnf32 T C 5: 29,206,814 probably benign Het
Slc30a9 A G 5: 67,346,238 probably benign Het
Slc44a2 A G 9: 21,352,486 Y650C probably damaging Het
Sv2a A T 3: 96,188,209 Y306F probably benign Het
Tmem50a T C 4: 134,898,447 E153G probably damaging Het
Tusc5 G A 11: 76,680,466 V103I probably benign Het
Usp20 A G 2: 31,017,163 E594G probably benign Het
Other mutations in Tor1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Tor1a APN 2 30967190 missense probably damaging 1.00
IGL01785:Tor1a APN 2 30963703 unclassified probably null
IGL03385:Tor1a APN 2 30963727 missense possibly damaging 0.83
R0282:Tor1a UTSW 2 30967725 missense possibly damaging 0.89
R0735:Tor1a UTSW 2 30963838 missense probably damaging 1.00
R1085:Tor1a UTSW 2 30967784 missense possibly damaging 0.52
R4368:Tor1a UTSW 2 30967370 unclassified probably benign
R4766:Tor1a UTSW 2 30967730 missense probably benign 0.01
R7361:Tor1a UTSW 2 30963741 missense probably benign 0.00
R7598:Tor1a UTSW 2 30967784 missense probably benign 0.31
R7946:Tor1a UTSW 2 30963692 critical splice donor site probably null
Z1177:Tor1a UTSW 2 30967915 unclassified probably benign
Posted On2015-04-16