Incidental Mutation 'R5653:Tor3a'
ID 442083
Institutional Source Beutler Lab
Gene Symbol Tor3a
Ensembl Gene ENSMUSG00000060519
Gene Name torsin family 3, member A
Synonyms Adir
MMRRC Submission 043299-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5653 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 156481187-156501909 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156484080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 290 (L290S)
Ref Sequence ENSEMBL: ENSMUSP00000140079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079625] [ENSMUST00000122242] [ENSMUST00000150557] [ENSMUST00000156861] [ENSMUST00000188964]
AlphaFold Q9ER38
Predicted Effect probably damaging
Transcript: ENSMUST00000079625
AA Change: L290S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078572
Gene: ENSMUSG00000060519
AA Change: L290S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Torsin 93 222 1.1e-60 PFAM
low complexity region 226 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122242
AA Change: L290S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113984
Gene: ENSMUSG00000060519
AA Change: L290S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Torsin 93 222 1.1e-60 PFAM
low complexity region 226 246 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150557
SMART Domains Protein: ENSMUSP00000137828
Gene: ENSMUSG00000060519

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Torsin 93 206 2.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154353
Predicted Effect probably benign
Transcript: ENSMUST00000156861
SMART Domains Protein: ENSMUSP00000140808
Gene: ENSMUSG00000060519

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188964
AA Change: L290S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140079
Gene: ENSMUSG00000060519
AA Change: L290S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Torsin 93 222 1.1e-60 PFAM
low complexity region 226 246 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 T C 5: 36,040,756 (GRCm39) L663P probably damaging Het
Atp10d A T 5: 72,421,410 (GRCm39) Q682L probably benign Het
Atp8b1 A G 18: 64,678,268 (GRCm39) V876A probably damaging Het
Bard1 A T 1: 71,070,588 (GRCm39) V632E probably benign Het
Baz1b A T 5: 135,237,951 (GRCm39) E209V probably benign Het
Bmp1 T A 14: 70,727,534 (GRCm39) Y683F probably benign Het
Cacnb1 A T 11: 97,900,105 (GRCm39) probably null Het
Capza2 G A 6: 17,654,112 (GRCm39) A55T probably damaging Het
Cc2d2a A G 5: 43,879,804 (GRCm39) N1127S possibly damaging Het
Ccdc13 A G 9: 121,627,853 (GRCm39) *255R probably null Het
Ddias G T 7: 92,507,937 (GRCm39) N659K probably damaging Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Dnah9 T C 11: 65,740,806 (GRCm39) T4127A probably damaging Het
Dnajc10 T A 2: 80,179,712 (GRCm39) Y749N probably damaging Het
Dnm1l A G 16: 16,137,353 (GRCm39) L422P probably damaging Het
Edil3 A T 13: 89,279,931 (GRCm39) N203I probably damaging Het
Egfr C T 11: 16,861,617 (GRCm39) A1132V probably benign Het
Entpd7 C T 19: 43,679,596 (GRCm39) R50* probably null Het
Fat2 T C 11: 55,201,142 (GRCm39) D644G probably damaging Het
Fhip1a A T 3: 85,629,808 (GRCm39) L40Q probably damaging Het
Galnt11 T A 5: 25,453,856 (GRCm39) D27E probably damaging Het
Gm10801 T A 2: 98,494,396 (GRCm39) F158I probably damaging Het
Gm37240 A G 3: 84,405,102 (GRCm39) F234L probably damaging Het
Gtf2ird1 A T 5: 134,439,821 (GRCm39) F136L probably damaging Het
Hspa1l T C 17: 35,196,396 (GRCm39) V145A probably damaging Het
Ice2 A G 9: 69,335,662 (GRCm39) T882A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kat6b A G 14: 21,719,440 (GRCm39) N1264S probably benign Het
Kcnq4 C A 4: 120,559,608 (GRCm39) V531L probably benign Het
Kif9 A T 9: 110,353,999 (GRCm39) K790N probably damaging Het
Lipe T A 7: 25,097,833 (GRCm39) I37L probably benign Het
Lrrc43 A G 5: 123,637,643 (GRCm39) D270G probably damaging Het
Mon2 A G 10: 122,861,999 (GRCm39) Y782H probably damaging Het
Mrpl52 T C 14: 54,664,686 (GRCm39) S49P probably damaging Het
Or2ak5 G A 11: 58,611,077 (GRCm39) H266Y probably damaging Het
Or2h15 T A 17: 38,442,075 (GRCm39) T3S possibly damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or5p56 A T 7: 107,589,592 (GRCm39) T7S probably benign Het
Pcbp2 C T 15: 102,395,524 (GRCm39) A141V probably damaging Het
Pcsk9 T A 4: 106,316,113 (GRCm39) Y110F probably damaging Het
Plxna4 A G 6: 32,494,551 (GRCm39) S22P possibly damaging Het
Polq T A 16: 36,860,896 (GRCm39) L506Q probably damaging Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Prx C T 7: 27,217,029 (GRCm39) P510L probably damaging Het
Ptpre T C 7: 135,255,672 (GRCm39) F54L probably damaging Het
Rspry1 T G 8: 95,363,239 (GRCm39) probably null Het
Tnfrsf11b A T 15: 54,123,262 (GRCm39) L113Q probably damaging Het
Tnk1 C T 11: 69,744,411 (GRCm39) G411S probably damaging Het
Tril T C 6: 53,794,970 (GRCm39) T751A probably benign Het
Tubgcp6 C T 15: 88,992,815 (GRCm39) V547I possibly damaging Het
Txnrd3 T C 6: 89,631,067 (GRCm39) L121P probably benign Het
Vmn1r210 T A 13: 23,011,378 (GRCm39) R303* probably null Het
Vmn2r38 T C 7: 9,100,764 (GRCm39) M1V probably null Het
Other mutations in Tor3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Tor3a APN 1 156,501,776 (GRCm39) missense probably benign 0.33
IGL03268:Tor3a APN 1 156,497,020 (GRCm39) missense probably damaging 1.00
R2943:Tor3a UTSW 1 156,501,665 (GRCm39) missense probably benign 0.38
R3858:Tor3a UTSW 1 156,497,124 (GRCm39) missense probably damaging 1.00
R4996:Tor3a UTSW 1 156,483,342 (GRCm39) missense probably damaging 1.00
R5204:Tor3a UTSW 1 156,483,270 (GRCm39) missense probably damaging 1.00
R5352:Tor3a UTSW 1 156,501,763 (GRCm39) missense probably damaging 1.00
R5476:Tor3a UTSW 1 156,501,137 (GRCm39) missense possibly damaging 0.94
R5931:Tor3a UTSW 1 156,484,057 (GRCm39) missense probably benign 0.03
R6170:Tor3a UTSW 1 156,484,143 (GRCm39) missense possibly damaging 0.89
R7674:Tor3a UTSW 1 156,483,478 (GRCm39) missense possibly damaging 0.77
R8833:Tor3a UTSW 1 156,483,373 (GRCm39) missense probably benign
R9509:Tor3a UTSW 1 156,483,499 (GRCm39) missense possibly damaging 0.58
R9644:Tor3a UTSW 1 156,501,126 (GRCm39) missense probably damaging 0.99
R9743:Tor3a UTSW 1 156,501,103 (GRCm39) missense probably benign 0.40
Z1177:Tor3a UTSW 1 156,501,800 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- CTCGTGCCACCAGAAGTTGATG -3'
(R):5'- CTTCTGAGCCTTGAAGCCTG -3'

Sequencing Primer
(F):5'- CCACCAGAAGTTGATGGGTGAG -3'
(R):5'- GAGGCATCCTTGAGTCTGTCAC -3'
Posted On 2016-11-09