Incidental Mutation 'IGL01154:Otud6b'
ID 51002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otud6b
Ensembl Gene ENSMUSG00000040550
Gene Name OTU domain containing 6B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL01154
Quality Score
Status
Chromosome 4
Chromosomal Location 14809498-14826587 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14811732 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 304 (Y304N)
Ref Sequence ENSEMBL: ENSMUSP00000113553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117268]
AlphaFold Q8K2H2
Predicted Effect probably damaging
Transcript: ENSMUST00000117268
AA Change: Y304N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: Y304N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2210408I21Rik T G 13: 77,281,094 F767V probably benign Het
A2m C A 6: 121,673,542 S1203* probably null Het
Abcc3 T C 11: 94,359,232 probably benign Het
Adamts13 T C 2: 27,006,194 Y1200H probably benign Het
Aldh1l2 T C 10: 83,520,373 D51G probably damaging Het
Apc2 A G 10: 80,313,069 E1319G possibly damaging Het
Arap3 A T 18: 37,996,734 S125T probably benign Het
Atp2b1 T A 10: 98,996,888 V417E probably damaging Het
Bpifa1 T A 2: 154,144,000 D78E probably benign Het
Catsperb C A 12: 101,625,681 A1090E possibly damaging Het
Ceacam9 C A 7: 16,723,961 T138K probably damaging Het
Cenpf T A 1: 189,680,333 E244D probably benign Het
Cep135 A T 5: 76,606,796 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col15a1 A C 4: 47,208,450 T6P possibly damaging Het
Cyp11b1 T A 15: 74,838,534 Q306L probably benign Het
Defa22 T A 8: 21,163,037 probably null Het
Dnah5 A T 15: 28,458,656 T4480S possibly damaging Het
Fastkd1 T C 2: 69,690,060 probably null Het
Flt1 A G 5: 147,576,156 Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 M469V probably benign Het
Fxr2 T C 11: 69,641,433 probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Grm4 A T 17: 27,434,737 C699* probably null Het
Hcn4 A G 9: 58,859,079 T677A unknown Het
Igkv9-123 G T 6: 67,954,534 probably benign Het
Irf4 T A 13: 30,757,421 H253Q possibly damaging Het
Jakmip2 T C 18: 43,590,679 probably benign Het
Kmt2c A G 5: 25,284,399 V1134A probably damaging Het
Limch1 G T 5: 66,745,958 E17* probably null Het
Nap1l1 T A 10: 111,486,675 N72K probably damaging Het
Olfr1265 T C 2: 90,037,468 L183P probably damaging Het
Olfr574 T C 7: 102,948,839 S115P probably damaging Het
Pdcd10 A C 3: 75,541,233 M8R probably damaging Het
Ppip5k1 T C 2: 121,343,179 T404A probably damaging Het
Ppp2r2d C T 7: 138,882,211 A197V probably benign Het
Psg25 C T 7: 18,524,699 D351N probably benign Het
Sbno1 A T 5: 124,410,249 I87N probably damaging Het
Stfa2l1 C T 16: 36,159,937 probably benign Het
Sugp2 T A 8: 70,242,699 D107E probably damaging Het
Syne1 G T 10: 5,360,848 F576L probably damaging Het
Syne3 A G 12: 104,958,069 F357S probably benign Het
Tenm2 A G 11: 36,041,544 L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 K117* probably null Het
Tram1 C T 1: 13,579,449 probably null Het
Trank1 T A 9: 111,386,400 D1799E probably benign Het
Ttc14 A T 3: 33,803,099 Y198F probably benign Het
Ube3b A G 5: 114,406,252 N570S probably null Het
Ube4b A G 4: 149,365,470 F412S probably benign Het
Vac14 T C 8: 110,653,607 probably benign Het
Vmn2r65 T C 7: 84,943,521 T493A probably benign Het
Zfp408 T C 2: 91,648,006 probably benign Het
Zfp580 C T 7: 5,053,268 T209I possibly damaging Het
Other mutations in Otud6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Otud6b APN 4 14822682 splice site probably benign
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
R7423:Otud6b UTSW 4 14825858 splice site probably null
R7743:Otud6b UTSW 4 14818389 missense possibly damaging 0.81
R7861:Otud6b UTSW 4 14826414 missense probably benign
R8095:Otud6b UTSW 4 14825614 missense probably damaging 1.00
R9200:Otud6b UTSW 4 14811712 nonsense probably null
Posted On 2013-06-21