Incidental Mutation 'IGL03385:Tor1a'
ID 420849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tor1a
Ensembl Gene ENSMUSG00000026849
Gene Name torsin family 1, member A (torsin A)
Synonyms Dyt1, DQ2, torsinA, Tor1a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03385
Quality Score
Status
Chromosome 2
Chromosomal Location 30850639-30857945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30853739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 197 (V197A)
Ref Sequence ENSEMBL: ENSMUSP00000028200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028199] [ENSMUST00000028200] [ENSMUST00000156711]
AlphaFold Q9ER39
Predicted Effect probably benign
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: V197A

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028200
Gene: ENSMUSG00000026849
AA Change: V197A

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,555,044 (GRCm39) T444A probably benign Het
Cdh20 A G 1: 109,993,516 (GRCm39) T324A possibly damaging Het
Col14a1 C A 15: 55,273,600 (GRCm39) T723K unknown Het
Col14a1 G A 15: 55,335,104 (GRCm39) G1513S unknown Het
Col1a2 C A 6: 4,539,612 (GRCm39) N1293K unknown Het
Ctdp1 T C 18: 80,493,133 (GRCm39) D454G probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 A G 5: 92,216,254 (GRCm39) V94A probably damaging Het
Gm973 A G 1: 59,621,629 (GRCm39) S590G probably benign Het
Gon4l A T 3: 88,814,850 (GRCm39) T1940S probably benign Het
Itk G A 11: 46,222,688 (GRCm39) Q594* probably null Het
Kcnc2 G A 10: 112,291,691 (GRCm39) C293Y probably damaging Het
Krit1 A G 5: 3,857,452 (GRCm39) I86V possibly damaging Het
Lyst T A 13: 13,831,565 (GRCm39) L1663* probably null Het
Moxd2 T C 6: 40,855,952 (GRCm39) T546A probably damaging Het
Myo7b G T 18: 32,122,630 (GRCm39) Q717K probably benign Het
Or2a51 T C 6: 43,178,914 (GRCm39) V112A probably benign Het
Or2ad1 A G 13: 21,326,657 (GRCm39) V190A probably benign Het
Ostm1 A C 10: 42,574,140 (GRCm39) N123H probably damaging Het
Pcdh10 A C 3: 45,335,947 (GRCm39) S754R possibly damaging Het
Pomt2 A T 12: 87,163,330 (GRCm39) L613Q probably damaging Het
Samd9l T A 6: 3,376,208 (GRCm39) N351I probably damaging Het
Serpinb9 T C 13: 33,191,979 (GRCm39) probably benign Het
Slc12a4 T A 8: 106,677,496 (GRCm39) probably benign Het
Smgc T A 15: 91,726,181 (GRCm39) H42Q possibly damaging Het
Ttc4 A G 4: 106,525,397 (GRCm39) S246P probably benign Het
Tti1 G A 2: 157,834,945 (GRCm39) A1005V possibly damaging Het
Ugt3a1 A T 15: 9,338,824 (GRCm39) I63F probably damaging Het
Other mutations in Tor1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Tor1a APN 2 30,857,202 (GRCm39) missense probably damaging 1.00
IGL01785:Tor1a APN 2 30,853,715 (GRCm39) splice site probably null
IGL01786:Tor1a APN 2 30,853,715 (GRCm39) splice site probably null
R0282:Tor1a UTSW 2 30,857,737 (GRCm39) missense possibly damaging 0.89
R0735:Tor1a UTSW 2 30,853,850 (GRCm39) missense probably damaging 1.00
R1085:Tor1a UTSW 2 30,857,796 (GRCm39) missense possibly damaging 0.52
R4368:Tor1a UTSW 2 30,857,382 (GRCm39) unclassified probably benign
R4766:Tor1a UTSW 2 30,857,742 (GRCm39) missense probably benign 0.01
R7361:Tor1a UTSW 2 30,853,753 (GRCm39) missense probably benign 0.00
R7598:Tor1a UTSW 2 30,857,796 (GRCm39) missense probably benign 0.31
R7946:Tor1a UTSW 2 30,853,704 (GRCm39) critical splice donor site probably null
R9296:Tor1a UTSW 2 30,851,104 (GRCm39) missense probably damaging 0.98
Z1177:Tor1a UTSW 2 30,857,927 (GRCm39) unclassified probably benign
Posted On 2016-08-02