Incidental Mutation 'IGL01293:Otud6b'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otud6b
Ensembl Gene ENSMUSG00000040550
Gene NameOTU domain containing 6B
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.582) question?
Stock #IGL01293
Quality Score
Chromosomal Location14809498-14826587 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 14822682 bp
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000117268]
Predicted Effect probably benign
Transcript: ENSMUST00000117268
SMART Domains Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550

coiled coil region 33 106 N/A INTRINSIC
Pfam:Peptidase_C65 129 322 9.5e-8 PFAM
Pfam:OTU 185 310 6.8e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151012
SMART Domains Protein: ENSMUSP00000120430
Gene: ENSMUSG00000040550

coiled coil region 9 82 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete perinatal lethality, decreased fetal size, and ventricular septal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,463,656 V25A probably benign Het
Aagab T C 9: 63,636,469 V235A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Atrx A G X: 105,876,195 S641P probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Cyp2d10 A T 15: 82,403,009 V471E possibly damaging Het
Efhc2 T A X: 17,207,695 I469L probably benign Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Hpdl T A 4: 116,820,944 T107S possibly damaging Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Mgat4c A T 10: 102,388,225 Y100F probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Rps6ka6 T C X: 111,450,362 probably benign Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Sox4 C A 13: 28,952,681 R114L probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L probably damaging Het
Other mutations in Otud6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Otud6b APN 4 14811732 missense probably damaging 1.00
IGL01903:Otud6b APN 4 14818458 missense probably benign 0.10
IGL02193:Otud6b APN 4 14812543 missense probably damaging 0.96
IGL03372:Otud6b APN 4 14812519 missense possibly damaging 0.95
PIT4402001:Otud6b UTSW 4 14818185 missense probably damaging 0.99
R0587:Otud6b UTSW 4 14815661 missense probably benign 0.08
R0841:Otud6b UTSW 4 14812532 missense probably benign 0.02
R1145:Otud6b UTSW 4 14812532 missense probably benign 0.02
R1145:Otud6b UTSW 4 14812532 missense probably benign 0.02
R1416:Otud6b UTSW 4 14818473 missense probably damaging 0.98
R1676:Otud6b UTSW 4 14825617 missense probably damaging 0.99
R4982:Otud6b UTSW 4 14815607 missense probably damaging 1.00
R5024:Otud6b UTSW 4 14826293 missense probably damaging 1.00
R5615:Otud6b UTSW 4 14818187 missense possibly damaging 0.52
R6327:Otud6b UTSW 4 14826496 unclassified probably benign
R6419:Otud6b UTSW 4 14822766 missense possibly damaging 0.95
R6713:Otud6b UTSW 4 14822739 missense probably benign 0.34
R7073:Otud6b UTSW 4 14811743 missense probably damaging 1.00
Posted On2013-10-07