Incidental Mutation 'IGL02881:Tor1b'
ID362818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tor1b
Ensembl Gene ENSMUSG00000026848
Gene Nametorsin family 1, member B
Synonyms2610016F05Rik, torsinB, DQ1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL02881
Quality Score
Status
Chromosome2
Chromosomal Location30952959-30959015 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 30953853 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 47 (K47*)
Ref Sequence ENSEMBL: ENSMUSP00000120415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028199] [ENSMUST00000135507] [ENSMUST00000156711]
Predicted Effect probably null
Transcript: ENSMUST00000028199
AA Change: K101*
SMART Domains Protein: ENSMUSP00000028199
Gene: ENSMUSG00000026848
AA Change: K101*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
AAA 101 244 1.64e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000132514
AA Change: K34*
SMART Domains Protein: ENSMUSP00000117612
Gene: ENSMUSG00000026848
AA Change: K34*

DomainStartEndE-ValueType
Pfam:Torsin 1 51 2.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133544
Predicted Effect probably null
Transcript: ENSMUST00000135507
AA Change: K101*
SMART Domains Protein: ENSMUSP00000117888
Gene: ENSMUSG00000026848
AA Change: K101*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Torsin 51 163 7.5e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155213
Predicted Effect probably null
Transcript: ENSMUST00000156711
AA Change: K47*
SMART Domains Protein: ENSMUSP00000120415
Gene: ENSMUSG00000026848
AA Change: K47*

DomainStartEndE-ValueType
Pfam:Torsin 1 100 1.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195010
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,555,999 probably benign Het
Aatf A G 11: 84,471,289 probably benign Het
Asap3 A T 4: 136,239,237 H542L probably benign Het
Cyp4v3 A T 8: 45,308,716 L389H probably damaging Het
Dnah17 C T 11: 118,042,118 E3605K probably damaging Het
Fry C T 5: 150,359,051 T347M probably damaging Het
Glul C A 1: 153,907,116 T191K probably benign Het
Gm6614 T C 6: 141,972,243 R636G probably benign Het
Grsf1 A T 5: 88,673,830 L125Q probably damaging Het
Hfm1 A G 5: 106,874,252 I976T probably damaging Het
Itgb5 A G 16: 33,919,905 T462A probably benign Het
Lmna G T 3: 88,502,926 R60S possibly damaging Het
Mrpl10 T A 11: 97,047,073 V89D probably damaging Het
Muc5b C T 7: 141,857,712 T1465I unknown Het
Myh15 A C 16: 49,117,265 D743A possibly damaging Het
Noxo1 C A 17: 24,699,435 L190I probably damaging Het
Noxo1 T A 17: 24,699,436 L190Q probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1025-ps1 A G 2: 85,918,116 S64G probably benign Het
Olfr1098 A G 2: 86,922,713 V273A possibly damaging Het
Olfr1226 T A 2: 89,193,641 Y131F probably damaging Het
Olfr170 A T 16: 19,606,300 Y123N probably damaging Het
Pfkfb4 A G 9: 109,007,296 T131A probably null Het
Phf20l1 T C 15: 66,594,980 probably null Het
Pnliprp2 A G 19: 58,771,446 D363G probably benign Het
Prpf6 C T 2: 181,632,071 T336I probably benign Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Sae1 T G 7: 16,359,118 K221N probably damaging Het
Slc45a1 T C 4: 150,638,530 K299R probably benign Het
Smad2 C A 18: 76,299,780 probably null Het
Tmem117 T C 15: 94,879,425 F152S probably damaging Het
Tmem232 C T 17: 65,450,370 C276Y probably damaging Het
Ttn A G 2: 76,909,803 V3464A probably benign Het
Ube3b A G 5: 114,412,884 T870A possibly damaging Het
Zscan25 T G 5: 145,290,486 L320R probably benign Het
Other mutations in Tor1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4087:Tor1b UTSW 2 30956519 missense probably damaging 1.00
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
Posted On2015-12-18