Incidental Mutation 'R5615:Otud6b'
ID 438178
Institutional Source Beutler Lab
Gene Symbol Otud6b
Ensembl Gene ENSMUSG00000040550
Gene Name OTU domain containing 6B
Synonyms 2600013N14Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.455) question?
Stock # R5615 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 14809503-14826413 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14818187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 238 (M238K)
Ref Sequence ENSEMBL: ENSMUSP00000113553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117268]
AlphaFold Q8K2H2
Predicted Effect possibly damaging
Transcript: ENSMUST00000117268
AA Change: M238K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: M238K

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
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Arhgef11 T C 3: 87,629,792 (GRCm39) probably null Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N probably damaging Het
Other mutations in Otud6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Otud6b APN 4 14,811,732 (GRCm39) missense probably damaging 1.00
IGL01293:Otud6b APN 4 14,822,682 (GRCm39) splice site probably benign
IGL01903:Otud6b APN 4 14,818,458 (GRCm39) missense probably benign 0.10
IGL02193:Otud6b APN 4 14,812,543 (GRCm39) missense probably damaging 0.96
IGL03372:Otud6b APN 4 14,812,519 (GRCm39) missense possibly damaging 0.95
PIT4402001:Otud6b UTSW 4 14,818,185 (GRCm39) missense probably damaging 0.99
R0587:Otud6b UTSW 4 14,815,661 (GRCm39) missense probably benign 0.08
R0841:Otud6b UTSW 4 14,812,532 (GRCm39) missense probably benign 0.02
R1145:Otud6b UTSW 4 14,812,532 (GRCm39) missense probably benign 0.02
R1145:Otud6b UTSW 4 14,812,532 (GRCm39) missense probably benign 0.02
R1416:Otud6b UTSW 4 14,818,473 (GRCm39) missense probably damaging 0.98
R1676:Otud6b UTSW 4 14,825,617 (GRCm39) missense probably damaging 0.99
R4982:Otud6b UTSW 4 14,815,607 (GRCm39) missense probably damaging 1.00
R5024:Otud6b UTSW 4 14,826,293 (GRCm39) missense probably damaging 1.00
R6327:Otud6b UTSW 4 14,826,496 (GRCm39) unclassified probably benign
R6419:Otud6b UTSW 4 14,822,766 (GRCm39) missense possibly damaging 0.95
R6713:Otud6b UTSW 4 14,822,739 (GRCm39) missense probably benign 0.34
R7073:Otud6b UTSW 4 14,811,743 (GRCm39) missense probably damaging 1.00
R7423:Otud6b UTSW 4 14,825,858 (GRCm39) splice site probably null
R7743:Otud6b UTSW 4 14,818,389 (GRCm39) missense possibly damaging 0.81
R7861:Otud6b UTSW 4 14,826,414 (GRCm39) missense probably benign
R8095:Otud6b UTSW 4 14,825,614 (GRCm39) missense probably damaging 1.00
R9200:Otud6b UTSW 4 14,811,712 (GRCm39) nonsense probably null
R9492:Otud6b UTSW 4 14,818,349 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTACGTGTTTTAGTGAATAACC -3'
(R):5'- ATTGGCAGCCAGAGAATTGG -3'

Sequencing Primer
(F):5'- CCTGCCAAAATGTTAATGAT -3'
(R):5'- GCAGCCAGAGAATTGGAAATTAAAC -3'
Posted On 2016-10-26