Incidental Mutation 'R9233:Tor1b'
ID 700332
Institutional Source Beutler Lab
Gene Symbol Tor1b
Ensembl Gene ENSMUSG00000026848
Gene Name torsin family 1, member B
Synonyms torsinB, DQ1, 2610016F05Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R9233 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 30842971-30849027 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 30844015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 151 (I151L)
Ref Sequence ENSEMBL: ENSMUSP00000028199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028199] [ENSMUST00000135507] [ENSMUST00000156711]
AlphaFold Q9ER41
Predicted Effect probably benign
Transcript: ENSMUST00000028199
AA Change: I151L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028199
Gene: ENSMUSG00000026848
AA Change: I151L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
AAA 101 244 1.64e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132514
SMART Domains Protein: ENSMUSP00000117612
Gene: ENSMUSG00000026848

DomainStartEndE-ValueType
Pfam:Torsin 1 51 2.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135507
AA Change: I151L

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000117888
Gene: ENSMUSG00000026848
AA Change: I151L

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Torsin 51 163 7.5e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156711
AA Change: I97L

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120415
Gene: ENSMUSG00000026848
AA Change: I97L

DomainStartEndE-ValueType
Pfam:Torsin 1 100 1.4e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 G T 11: 110,082,496 (GRCm39) T1159K probably benign Het
Acap1 A G 11: 69,775,484 (GRCm39) V479A probably benign Het
Actl11 A G 9: 107,807,900 (GRCm39) E741G possibly damaging Het
Anp32b A T 4: 46,463,909 (GRCm39) I103F probably damaging Het
Ap4m1 C T 5: 138,176,653 (GRCm39) R418* probably null Het
Asic3 G A 5: 24,618,837 (GRCm39) R43H probably damaging Het
Bsn A G 9: 107,994,289 (GRCm39) V662A probably benign Het
Cacna1a C T 8: 85,271,283 (GRCm39) R479C probably damaging Het
Chchd3 A T 6: 32,780,845 (GRCm39) C214S probably damaging Het
Cspg4b A T 13: 113,502,754 (GRCm39) Y100F Het
Dock9 T A 14: 121,820,781 (GRCm39) T1538S probably benign Het
Dyrk1a A G 16: 94,466,913 (GRCm39) M156V probably benign Het
Dzip1 T C 14: 119,124,635 (GRCm39) Q546R probably benign Het
Eef2 T C 10: 81,014,668 (GRCm39) V185A probably benign Het
Etv4 A C 11: 101,662,532 (GRCm39) V314G probably damaging Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fbp2 A T 13: 62,989,622 (GRCm39) V228E possibly damaging Het
Fcgbpl1 A G 7: 27,839,519 (GRCm39) Y444C possibly damaging Het
Fhip2a T A 19: 57,369,098 (GRCm39) F360L probably damaging Het
Gcc1 A G 6: 28,418,710 (GRCm39) L541P probably damaging Het
Gemin4 A G 11: 76,103,942 (GRCm39) I273T possibly damaging Het
Gm32742 T C 9: 51,056,387 (GRCm39) K1193E possibly damaging Het
Gmps C T 3: 63,924,133 (GRCm39) P687L probably damaging Het
Gpr162 A G 6: 124,836,014 (GRCm39) L462P possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hspa12b T C 2: 130,976,036 (GRCm39) Y13H probably damaging Het
Kcnh8 A C 17: 53,285,168 (GRCm39) E1046A probably damaging Het
Kcnk12 T A 17: 88,053,538 (GRCm39) T375S probably benign Het
Kdm4a A G 4: 118,004,193 (GRCm39) probably null Het
Klhl5 G T 5: 65,300,673 (GRCm39) V219L possibly damaging Het
Kpna1 A T 16: 35,853,793 (GRCm39) E474D probably damaging Het
Lama5 A T 2: 179,840,502 (GRCm39) Y632* probably null Het
Lias A G 5: 65,551,331 (GRCm39) N88S probably benign Het
Mei1 C T 15: 81,973,752 (GRCm39) R80C Het
Mical2 T G 7: 111,981,399 (GRCm39) S458A probably benign Het
Mrps33 A G 6: 39,782,447 (GRCm39) S25P probably benign Het
Mttp T A 3: 137,822,280 (GRCm39) D169V probably damaging Het
Npdc1 A G 2: 25,296,329 (GRCm39) E72G probably damaging Het
Nsrp1 G A 11: 76,937,036 (GRCm39) R387W probably benign Het
Pcnx4 A G 12: 72,603,587 (GRCm39) T503A possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pigu C T 2: 155,178,610 (GRCm39) V83I possibly damaging Het
Ppcs G A 4: 119,279,397 (GRCm39) R52* probably null Het
Rbm33 A G 5: 28,544,239 (GRCm39) E165G probably benign Het
Rnf5 A T 17: 34,822,326 (GRCm39) V41E possibly damaging Het
Ror2 T C 13: 53,265,590 (GRCm39) T501A probably benign Het
Rps17 T G 7: 80,993,497 (GRCm39) M105L probably benign Het
Ryr2 A T 13: 11,610,772 (GRCm39) M4018K possibly damaging Het
Scarf1 A G 11: 75,416,720 (GRCm39) M721V probably benign Het
Scgb1b30 A G 7: 33,799,184 (GRCm39) T39A probably damaging Het
Selenoo T C 15: 88,984,044 (GRCm39) V620A probably damaging Het
Slfn8 A C 11: 82,894,422 (GRCm39) I739R probably damaging Het
Smc6 A G 12: 11,359,291 (GRCm39) T972A probably benign Het
Spred1 G A 2: 117,002,644 (GRCm39) R221H unknown Het
Stag1 T A 9: 100,812,024 (GRCm39) M834K probably benign Het
Taf1a T C 1: 183,181,878 (GRCm39) I177T possibly damaging Het
Tcam1 G A 11: 106,175,018 (GRCm39) D158N probably benign Het
Tcirg1 G T 19: 3,952,543 (GRCm39) T275K probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trappc12 T A 12: 28,772,414 (GRCm39) Q471L possibly damaging Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Ugt2a2 G A 5: 87,613,272 (GRCm39) P288S probably damaging Het
Vmn1r157 T C 7: 22,461,381 (GRCm39) L87P probably damaging Het
Vmn1r188 A G 13: 22,272,399 (GRCm39) R118G probably benign Het
Vps13d G A 4: 144,879,344 (GRCm39) T1493I Het
Xrra1 T G 7: 99,516,574 (GRCm39) M6R probably benign Het
Zfp142 T C 1: 74,610,288 (GRCm39) E1169G probably benign Het
Zfp738 G T 13: 67,819,017 (GRCm39) R325S possibly damaging Het
Zmym4 A G 4: 126,776,310 (GRCm39) M1209T probably damaging Het
Other mutations in Tor1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02881:Tor1b APN 2 30,843,865 (GRCm39) nonsense probably null
R0666:Tor1b UTSW 2 30,843,925 (GRCm39) missense probably damaging 0.97
R0866:Tor1b UTSW 2 30,846,928 (GRCm39) missense probably benign 0.34
R1449:Tor1b UTSW 2 30,845,893 (GRCm39) missense probably damaging 0.99
R1962:Tor1b UTSW 2 30,846,931 (GRCm39) missense probably benign 0.21
R2411:Tor1b UTSW 2 30,845,824 (GRCm39) missense probably damaging 0.99
R4087:Tor1b UTSW 2 30,846,531 (GRCm39) missense probably damaging 1.00
R4868:Tor1b UTSW 2 30,846,589 (GRCm39) critical splice donor site probably null
R5454:Tor1b UTSW 2 30,846,957 (GRCm39) utr 3 prime probably benign
R5455:Tor1b UTSW 2 30,846,957 (GRCm39) utr 3 prime probably benign
R9516:Tor1b UTSW 2 30,843,185 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCATTGACTGGCTTCAGGAAC -3'
(R):5'- TTAAATGATCATAGCATCCCCTACC -3'

Sequencing Primer
(F):5'- TGGCTTCAGGAACAACAAAAATTC -3'
(R):5'- TGTTGATCTCAGCCCTCAGAAAG -3'
Posted On 2022-02-07