Incidental Mutation 'R7598:Tor1a'
ID 587822
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 045641-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7598 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30850639-30857945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 30857796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 24 (I24S)
Ref Sequence ENSEMBL: ENSMUSP00000028200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028200] [ENSMUST00000028205]
AlphaFold Q9ER39
Predicted Effect probably benign
Transcript: ENSMUST00000028200
AA Change: I24S

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028200
Gene: ENSMUSG00000026849
AA Change: I24S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Torsin 45 170 3.2e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028205
SMART Domains Protein: ENSMUSP00000028205
Gene: ENSMUSG00000026851

DomainStartEndE-ValueType
coiled coil region 10 37 N/A INTRINSIC
Pfam:Hep_59 101 197 3e-34 PFAM
Meta Mutation Damage Score 0.1823 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (53/53)
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
Acss1 T C 2: 150,480,370 (GRCm39) S234G probably benign Het
Agtr1b A T 3: 20,370,077 (GRCm39) N176K possibly damaging Het
AI661453 T C 17: 47,777,045 (GRCm39) V257A unknown Het
Alpk2 T A 18: 65,437,637 (GRCm39) K1252M probably damaging Het
Angpt4 A G 2: 151,767,445 (GRCm39) T159A possibly damaging Het
Ap1g1 A G 8: 110,576,308 (GRCm39) N447S probably benign Het
Apoc4 A G 7: 19,415,265 (GRCm39) V14A probably benign Het
Arfgef2 A C 2: 166,698,444 (GRCm39) Q638P probably benign Het
Arhgap20 C A 9: 51,761,090 (GRCm39) F980L possibly damaging Het
Arhgap27 G A 11: 103,224,879 (GRCm39) R459* probably null Het
Arhgef15 A T 11: 68,837,236 (GRCm39) L785Q probably damaging Het
B3gnt7 T C 1: 86,233,500 (GRCm39) F249L probably benign Het
Carmil3 A G 14: 55,732,278 (GRCm39) E233G possibly damaging Het
Ccdc122 C A 14: 77,349,006 (GRCm39) Q279K probably benign Het
Cilp2 A G 8: 70,338,682 (GRCm39) C134R probably benign Het
Clec4b1 G A 6: 123,048,427 (GRCm39) W187* probably null Het
Ddx11 G A 17: 66,437,541 (GRCm39) probably null Het
Dhrs7c A T 11: 67,702,279 (GRCm39) probably null Het
Eif4g3 T A 4: 137,921,435 (GRCm39) H1387Q probably benign Het
Gsdmc4 T C 15: 63,772,235 (GRCm39) N148S probably damaging Het
Hs6st3 T A 14: 120,106,750 (GRCm39) V386E probably damaging Het
Itih3 C T 14: 30,639,334 (GRCm39) R413Q possibly damaging Het
Kcnj4 T C 15: 79,369,965 (GRCm39) N5S probably benign Het
Klhl18 A T 9: 110,275,878 (GRCm39) L155* probably null Het
Lima1 G A 15: 99,717,577 (GRCm39) P143L probably benign Het
Lzts2 G T 19: 45,012,272 (GRCm39) G234* probably null Het
Map4k5 A T 12: 69,871,412 (GRCm39) F503L possibly damaging Het
Men1 A T 19: 6,389,735 (GRCm39) I463L probably benign Het
Muc5b A G 7: 141,412,999 (GRCm39) T1982A unknown Het
Myo18a A T 11: 77,738,172 (GRCm39) T1705S probably damaging Het
Nipbl T C 15: 8,372,977 (GRCm39) S1090G probably benign Het
Or2b7 T C 13: 21,739,358 (GRCm39) Y278C probably damaging Het
Or8k28 C A 2: 86,286,234 (GRCm39) C127F probably damaging Het
Pcdhb7 T C 18: 37,475,833 (GRCm39) F323S probably damaging Het
Pde11a T A 2: 75,966,767 (GRCm39) T561S probably damaging Het
Phip A C 9: 82,787,711 (GRCm39) S817R possibly damaging Het
Phxr2 T A 10: 98,961,941 (GRCm39) M40L unknown Het
Pip4k2a T A 2: 18,877,098 (GRCm39) L212F possibly damaging Het
Proc T A 18: 32,268,929 (GRCm39) I19L probably benign Het
Rbm4 T C 19: 4,842,539 (GRCm39) E100G possibly damaging Het
Rhobtb3 T C 13: 76,059,021 (GRCm39) Y259C probably benign Het
Rtkn A G 6: 83,124,884 (GRCm39) D168G probably null Het
Sdk1 T G 5: 141,595,753 (GRCm39) Y136* probably null Het
Slk G A 19: 47,624,901 (GRCm39) E1041K probably damaging Het
Smok2b A T 17: 13,454,973 (GRCm39) R378* probably null Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Spag16 T C 1: 69,909,467 (GRCm39) F188S probably damaging Het
Tlnrd1 A G 7: 83,531,838 (GRCm39) C198R probably damaging Het
Unc13b C A 4: 43,263,569 (GRCm39) T1598K probably benign Het
Uncx G A 5: 139,529,809 (GRCm39) V21M probably benign Het
Usp5 A T 6: 124,803,342 (GRCm39) F53I possibly damaging Het
Wbp2nl A G 15: 82,192,762 (GRCm39) M149V probably benign Het
Zfp654 T A 16: 64,606,297 (GRCm39) E94V possibly damaging Het
Zfp689 A G 7: 127,047,840 (GRCm39) L64P probably benign Het
Zfyve28 A C 5: 34,393,461 (GRCm39) N68K 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
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
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
Predicted Primers PCR Primer
(F):5'- AAAGGCAGCCCCATTTCCAG -3'
(R):5'- GCCCTTAACAAAGATGGTAGCC -3'

Sequencing Primer
(F):5'- ATTTCCAGGACGTCAGGGC -3'
(R):5'- ACTAGCGTCGGTAGACTGC -3'
Posted On 2019-10-24