Incidental Mutation 'R7946:Tor1a'
ID 649326
Institutional Source Beutler Lab
Gene Symbol Tor1a
Ensembl Gene ENSMUSG00000026849
Gene Name torsin family 1, member A (torsin A)
Synonyms Dyt1, DQ2, torsinA, Tor1a
MMRRC Submission 045991-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7946 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30850639-30857945 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 30853704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 probably null
Transcript: ENSMUST00000028200
SMART Domains Protein: ENSMUSP00000028200
Gene: ENSMUSG00000026849

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Torsin 45 170 3.2e-57 PFAM
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,398 (GRCm39) T1186A probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Afap1 A G 5: 36,092,995 (GRCm39) N33S probably benign Het
Afap1 G A 5: 36,141,396 (GRCm39) probably null Het
Ampd3 A G 7: 110,377,147 (GRCm39) D46G probably damaging Het
Anks4b A G 7: 119,781,707 (GRCm39) K246R probably benign Het
Aqp9 C T 9: 71,030,290 (GRCm39) V192M probably damaging Het
Aspscr1 T G 11: 120,599,443 (GRCm39) S132A Het
Atp2b4 C A 1: 133,658,320 (GRCm39) R530L probably damaging Het
Bahcc1 T C 11: 120,163,325 (GRCm39) V541A probably benign Het
Caprin1 A T 2: 103,603,093 (GRCm39) V490E probably damaging Het
Ccdc7a T A 8: 129,643,627 (GRCm39) K734M probably damaging Het
Ccdc9b G T 2: 118,590,146 (GRCm39) P233T probably benign Het
Cdc16 A G 8: 13,812,882 (GRCm39) K138R probably benign Het
Cela2a A G 4: 141,549,617 (GRCm39) S53P possibly damaging Het
Clca3a2 A G 3: 144,513,075 (GRCm39) probably null Het
Cntrob T C 11: 69,206,047 (GRCm39) E373G possibly damaging Het
Csmd2 T C 4: 128,414,058 (GRCm39) Y2633H Het
Ctbp1 A T 5: 33,407,688 (GRCm39) M296K probably benign Het
Dido1 G T 2: 180,303,501 (GRCm39) Q1468K possibly damaging Het
Dnah7b T C 1: 46,272,739 (GRCm39) F2289S probably damaging Het
Fndc7 T A 3: 108,779,452 (GRCm39) D364V possibly damaging Het
Ggt7 G T 2: 155,347,892 (GRCm39) H180Q probably damaging Het
Gm14399 A T 2: 174,973,273 (GRCm39) C161S probably damaging Het
Gm17324 T C 9: 78,355,794 (GRCm39) T62A unknown Het
Gpr107 A G 2: 31,078,716 (GRCm39) I384V probably damaging Het
Igsf10 C A 3: 59,227,125 (GRCm39) V2183L possibly damaging Het
Il23r T A 6: 67,411,648 (GRCm39) H363L possibly damaging Het
Inka2 T A 3: 105,623,761 (GRCm39) L45H probably damaging Het
Iqsec1 A T 6: 90,667,252 (GRCm39) I291N probably damaging Het
Kcnc3 A T 7: 44,245,569 (GRCm39) T620S probably benign Het
Kif2b T C 11: 91,466,571 (GRCm39) N571D probably benign Het
Klrb1c T A 6: 128,766,072 (GRCm39) probably benign Het
Mgst2 A G 3: 51,584,991 (GRCm39) N55S probably damaging Het
Neb T C 2: 52,102,746 (GRCm39) D4509G probably damaging Het
Obox1 G T 7: 15,289,456 (GRCm39) V82F probably benign Het
Or4k51 A T 2: 111,585,163 (GRCm39) M190L probably benign Het
Or5p59 A G 7: 107,703,053 (GRCm39) D179G probably benign Het
Or7e174 T C 9: 20,012,780 (GRCm39) S242P probably damaging Het
Pakap A T 4: 57,710,045 (GRCm39) N330I probably damaging Het
Phf21a A T 2: 92,189,512 (GRCm39) E590D probably damaging Het
Rai14 T C 15: 10,574,287 (GRCm39) probably null Het
Rfx7 T C 9: 72,524,096 (GRCm39) Y429H probably damaging Het
Spata31d1d G T 13: 59,878,606 (GRCm39) A77E probably benign Het
Stra8 A G 6: 34,907,816 (GRCm39) probably null Het
Syne1 A G 10: 5,200,919 (GRCm39) S3550P possibly damaging Het
Tars2 A T 3: 95,657,693 (GRCm39) H249Q probably damaging Het
Tomm5 T C 4: 45,107,969 (GRCm39) E22G probably benign Het
Trim43b A G 9: 88,973,538 (GRCm39) I65T probably damaging Het
Ubr3 T C 2: 69,781,739 (GRCm39) M640T possibly damaging Het
Vegfa A T 17: 46,336,377 (GRCm39) Y248N probably damaging Het
Vmn1r172 T G 7: 23,358,857 (GRCm39) probably null Het
Vmn1r29 G T 6: 58,284,834 (GRCm39) V185F probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Wdfy4 T C 14: 32,792,705 (GRCm39) K2114E 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
IGL03385:Tor1a APN 2 30,853,739 (GRCm39) missense possibly damaging 0.83
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
R9296:Tor1a UTSW 2 30,851,104 (GRCm39) missense probably damaging 0.98
Z1177:Tor1a UTSW 2 30,857,927 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACTGTTCTTGTTATTGAAGACCGAC -3'
(R):5'- TTCAGGACCAGTTACAGATGTG -3'

Sequencing Primer
(F):5'- GGCTCCATGTCTCTGAGC -3'
(R):5'- ACCAGTTACAGATGTGGATCAG -3'
Posted On 2020-09-15