Incidental Mutation 'R4087:Tor1b'
Institutional Source Beutler Lab
Gene Symbol Tor1b
Ensembl Gene ENSMUSG00000026848
Gene Nametorsin family 1, member B
Synonyms2610016F05Rik, torsinB, DQ1
MMRRC Submission 040980-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #R4087 (G1)
Quality Score225
Status Validated
Chromosomal Location30952959-30959015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30956519 bp
Amino Acid Change Isoleucine to Asparagine at position 238 (I238N)
Ref Sequence ENSEMBL: ENSMUSP00000028199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028199] [ENSMUST00000028200] [ENSMUST00000135507] [ENSMUST00000156711]
Predicted Effect probably damaging
Transcript: ENSMUST00000028199
AA Change: I238N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028199
Gene: ENSMUSG00000026848
AA Change: I238N

signal peptide 1 24 N/A INTRINSIC
AAA 101 244 1.64e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000028200
SMART Domains Protein: ENSMUSP00000028200
Gene: ENSMUSG00000026849

signal peptide 1 20 N/A INTRINSIC
Pfam:Torsin 45 170 3.2e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123762
Predicted Effect probably benign
Transcript: ENSMUST00000132514
SMART Domains Protein: ENSMUSP00000117612
Gene: ENSMUSG00000026848

Pfam:Torsin 1 51 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133544
Predicted Effect probably benign
Transcript: ENSMUST00000135507
SMART Domains Protein: ENSMUSP00000117888
Gene: ENSMUSG00000026848

signal peptide 1 24 N/A INTRINSIC
Pfam:Torsin 51 163 7.5e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155213
Predicted Effect probably benign
Transcript: ENSMUST00000156711
SMART Domains Protein: ENSMUSP00000120415
Gene: ENSMUSG00000026848

Pfam:Torsin 1 100 1.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195010
Meta Mutation Damage Score 0.7848 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 96% (50/52)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,166,510 S80P probably damaging Het
Acss3 T G 10: 107,053,452 Y169S probably damaging Het
Cep250 G A 2: 155,992,632 R2159K probably damaging Het
Cldn34c4 A T X: 127,721,388 V153E probably damaging Het
Col4a4 T A 1: 82,523,922 Y370F unknown Het
Col6a6 A T 9: 105,783,956 I318N possibly damaging Het
Csmd1 T A 8: 15,992,738 I2332F probably damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Dym T A 18: 75,230,101 Y559N probably damaging Het
Eif3g A G 9: 20,897,952 V59A possibly damaging Het
Fam171a1 G A 2: 3,226,296 R697Q probably damaging Het
Fermt3 T A 19: 7,003,577 probably null Het
Git2 A G 5: 114,764,405 Y189H probably damaging Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gm7713 C T 15: 59,994,409 noncoding transcript Het
Gpr108 A G 17: 57,237,925 Y313H probably damaging Het
Kcnh8 T C 17: 52,803,400 I213T possibly damaging Het
Lpgat1 A T 1: 191,763,616 I306F possibly damaging Het
Mapk8 T C 14: 33,390,248 T228A probably benign Het
Med12l T C 3: 59,297,921 V2101A probably benign Het
Mettl13 T C 1: 162,548,202 K19E possibly damaging Het
Mta1 A G 12: 113,112,182 Y22C probably damaging Het
Notch3 T C 17: 32,158,113 T273A possibly damaging Het
Notch4 T C 17: 34,584,435 W1443R probably damaging Het
Npy5r T A 8: 66,682,045 D32V probably damaging Het
Olfr1083-ps C A 2: 86,606,953 *206L probably null Het
Rbm47 A G 5: 66,022,737 M409T probably benign Het
Rnf144a C T 12: 26,327,592 V51I probably damaging Het
Rxfp1 T A 3: 79,644,949 T682S probably damaging Het
Sertad2 GCCCC GCCCCC 11: 20,648,664 probably null Het
Sos1 A G 17: 80,449,352 V257A probably benign Het
Ssfa2 C T 2: 79,658,347 Q925* probably null Het
Tdrd9 C T 12: 112,013,486 Q256* probably null Het
Tmprss11d A T 5: 86,309,279 S174T probably damaging Het
Tppp2 T C 14: 51,919,500 probably null Het
Traf3ip3 A G 1: 193,181,320 V414A probably damaging Het
Trim14 T A 4: 46,523,709 T110S probably benign Het
Trim30d T C 7: 104,487,800 N66D probably damaging Het
Usp48 A G 4: 137,623,340 N46S possibly damaging Het
Vmn2r115 A C 17: 23,346,384 Q415P probably benign Het
Wbp2nl A G 15: 82,308,561 M149V probably benign Het
Zfp106 T C 2: 120,526,899 probably null Het
Zfp281 T A 1: 136,626,121 I279N probably damaging Het
Other mutations in Tor1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02881:Tor1b APN 2 30953853 nonsense probably null
R0666:Tor1b UTSW 2 30953913 missense probably damaging 0.97
R0866:Tor1b UTSW 2 30956916 missense probably benign 0.34
R1449:Tor1b UTSW 2 30955881 missense probably damaging 0.99
R1962:Tor1b UTSW 2 30956919 missense probably benign 0.21
R2411:Tor1b UTSW 2 30955812 missense probably damaging 0.99
R4868:Tor1b UTSW 2 30956577 critical splice donor site probably null
R5454:Tor1b UTSW 2 30956945 utr 3 prime probably benign
R5455:Tor1b UTSW 2 30956945 utr 3 prime probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-05-15