Incidental Mutation 'IGL00088:Otud4'
ID306484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otud4
Ensembl Gene ENSMUSG00000036990
Gene NameOTU domain containing 4
Synonyms4930431L18Rik, D8Ertd69e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL00088
Quality Score
Status
Chromosome8
Chromosomal Location79639618-79677724 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 79672881 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 741 (N741K)
Ref Sequence ENSEMBL: ENSMUSP00000133939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173078] [ENSMUST00000173286]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172614
Predicted Effect probably damaging
Transcript: ENSMUST00000173078
AA Change: N741K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: N741K

DomainStartEndE-ValueType
Pfam:OTU 40 154 3.4e-17 PFAM
low complexity region 189 213 N/A INTRINSIC
Blast:TUDOR 280 335 2e-7 BLAST
low complexity region 392 405 N/A INTRINSIC
low complexity region 473 486 N/A INTRINSIC
low complexity region 543 555 N/A INTRINSIC
low complexity region 1014 1025 N/A INTRINSIC
low complexity region 1082 1104 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000173286
AA Change: N740K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: N740K

DomainStartEndE-ValueType
Pfam:OTU 40 149 5.3e-21 PFAM
low complexity region 189 213 N/A INTRINSIC
Blast:TUDOR 280 334 9e-9 BLAST
low complexity region 391 404 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
low complexity region 542 554 N/A INTRINSIC
low complexity region 1013 1024 N/A INTRINSIC
low complexity region 1081 1103 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174485
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Ankhd1 A G 18: 36,665,459 probably benign Het
Anpep A G 7: 79,825,736 V879A possibly damaging Het
Asb13 T G 13: 3,643,476 V78G probably null Het
Atad2b A G 12: 5,024,593 R1051G probably damaging Het
Bdp1 T C 13: 100,098,510 Y192C probably damaging Het
C1ql2 G T 1: 120,341,670 G185C probably damaging Het
C87499 T A 4: 88,629,070 K121N probably benign Het
Catsperg2 A G 7: 29,705,404 S745P possibly damaging Het
Col19a1 A T 1: 24,561,306 S52T unknown Het
Col4a2 G T 8: 11,443,685 G1418V probably damaging Het
Crnkl1 C T 2: 145,918,468 D677N possibly damaging Het
Cyp2j8 T A 4: 96,503,842 N125I probably benign Het
Cyp2t4 A T 7: 27,155,298 M68L probably benign Het
Dclk2 T A 3: 86,799,090 probably null Het
Dmxl2 T C 9: 54,401,704 D1921G probably benign Het
Dnah10 G A 5: 124,828,603 G4104S probably damaging Het
Echdc2 T C 4: 108,178,911 I273T probably damaging Het
Extl1 T C 4: 134,358,019 K596E probably damaging Het
Fads3 A T 19: 10,052,299 D108V probably null Het
Fam135b A G 15: 71,450,494 L1274P probably damaging Het
Fat1 T A 8: 45,024,602 H2228Q possibly damaging Het
Gcc2 C T 10: 58,292,680 H1341Y probably damaging Het
Gls2 A G 10: 128,200,971 probably null Het
Gm13119 T A 4: 144,362,530 H139Q possibly damaging Het
Gpr137 A C 19: 6,939,704 V139G probably damaging Het
Ikbke A G 1: 131,270,012 probably null Het
Irak2 A T 6: 113,678,675 N285Y probably benign Het
Kcnu1 G A 8: 25,897,856 C566Y probably benign Het
Klhl29 G A 12: 5,140,705 P97S probably benign Het
Lama4 T C 10: 39,065,595 probably benign Het
Lhx6 G A 2: 36,091,716 probably benign Het
Mdn1 T C 4: 32,723,651 L2529P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Naa15 T A 3: 51,438,405 V19D probably damaging Het
Ncbp3 A T 11: 73,073,529 probably benign Het
Nckipsd G A 9: 108,814,969 V530I probably benign Het
Neb A G 2: 52,308,747 I394T possibly damaging Het
Nnmt A T 9: 48,591,924 probably benign Het
Nupl1 T A 14: 60,242,577 I207L probably benign Het
Olfr113 A T 17: 37,574,917 C169S probably damaging Het
Olfr180 C T 16: 58,915,850 E264K probably benign Het
Olfr290 T A 7: 84,916,370 M197K probably damaging Het
Pard6a T A 8: 105,703,201 C264S probably benign Het
Plch2 T C 4: 155,006,642 N276S probably damaging Het
Racgap1 T C 15: 99,636,122 probably benign Het
Rad51d T C 11: 82,889,746 D70G probably damaging Het
Recql4 C T 15: 76,707,336 A484T possibly damaging Het
Reg3g A T 6: 78,466,779 S149T probably benign Het
Rpl13a C A 7: 45,127,071 probably null Het
Scn10a T C 9: 119,672,226 Y164C probably damaging Het
Scn2a A G 2: 65,764,440 I1878V probably benign Het
Sgcg T A 14: 61,240,347 R98* probably null Het
Tas2r137 A T 6: 40,491,340 I35F probably benign Het
Tex19.2 A G 11: 121,116,812 F270S possibly damaging Het
Traip C T 9: 107,970,550 R391W probably benign Het
Trim7 A G 11: 48,845,571 N251D probably damaging Het
Trmt2a T A 16: 18,249,487 V8D probably benign Het
Ubr3 A C 2: 69,988,810 I9L probably benign Het
Usp42 A G 5: 143,717,142 S575P probably benign Het
Vmn2r52 G T 7: 10,169,096 H468Q probably benign Het
Vmn2r59 T A 7: 42,012,064 T776S possibly damaging Het
Zcchc6 T C 13: 59,816,698 E221G probably damaging Het
Other mutations in Otud4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Otud4 APN 8 79665021 missense probably benign
IGL01371:Otud4 APN 8 79673761 missense probably damaging 1.00
IGL01782:Otud4 APN 8 79673011 missense possibly damaging 0.95
IGL01912:Otud4 APN 8 79673837 missense probably benign
IGL02294:Otud4 APN 8 79664977 splice site probably benign
IGL02830:Otud4 APN 8 79673301 missense probably benign 0.00
IGL03063:Otud4 APN 8 79663790 missense probably benign 0.01
IGL03077:Otud4 APN 8 79673458 missense probably damaging 0.97
R0437:Otud4 UTSW 8 79669997 missense probably benign 0.02
R1024:Otud4 UTSW 8 79664093 missense probably benign 0.01
R1118:Otud4 UTSW 8 79653351 splice site probably benign
R1296:Otud4 UTSW 8 79673974 missense unknown
R1321:Otud4 UTSW 8 79669950 missense probably benign 0.03
R1674:Otud4 UTSW 8 79673147 missense probably benign 0.12
R1736:Otud4 UTSW 8 79651665 splice site probably benign
R1815:Otud4 UTSW 8 79639989 nonsense probably null
R1950:Otud4 UTSW 8 79646332 missense probably damaging 0.99
R1985:Otud4 UTSW 8 79640012 missense probably damaging 1.00
R2173:Otud4 UTSW 8 79668464 missense probably damaging 1.00
R2869:Otud4 UTSW 8 79661073 missense possibly damaging 0.82
R2869:Otud4 UTSW 8 79661073 missense possibly damaging 0.82
R2870:Otud4 UTSW 8 79661073 missense possibly damaging 0.82
R2870:Otud4 UTSW 8 79661073 missense possibly damaging 0.82
R2872:Otud4 UTSW 8 79661073 missense possibly damaging 0.82
R2872:Otud4 UTSW 8 79661073 missense possibly damaging 0.82
R2907:Otud4 UTSW 8 79673068 missense probably benign 0.02
R3545:Otud4 UTSW 8 79665055 missense probably damaging 1.00
R4628:Otud4 UTSW 8 79639968 missense possibly damaging 0.73
R4790:Otud4 UTSW 8 79666773 missense possibly damaging 0.82
R4989:Otud4 UTSW 8 79655689 missense probably damaging 1.00
R5133:Otud4 UTSW 8 79655689 missense probably damaging 1.00
R5134:Otud4 UTSW 8 79655689 missense probably damaging 1.00
R5294:Otud4 UTSW 8 79672892 missense possibly damaging 0.54
R5410:Otud4 UTSW 8 79672997 missense probably benign 0.04
R5454:Otud4 UTSW 8 79651042 missense possibly damaging 0.94
R5579:Otud4 UTSW 8 79664108 missense probably benign
R5738:Otud4 UTSW 8 79673461 missense probably benign 0.02
R5886:Otud4 UTSW 8 79672807 missense probably damaging 1.00
R6062:Otud4 UTSW 8 79673896 missense probably damaging 1.00
R6364:Otud4 UTSW 8 79646341 missense probably damaging 0.99
R6427:Otud4 UTSW 8 79668497 missense probably benign 0.00
R6450:Otud4 UTSW 8 79672997 missense probably benign 0.04
R6744:Otud4 UTSW 8 79673778 nonsense probably null
R6773:Otud4 UTSW 8 79643806 missense possibly damaging 0.95
R7046:Otud4 UTSW 8 79651042 missense possibly damaging 0.94
R7142:Otud4 UTSW 8 79672762 splice site probably null
X0024:Otud4 UTSW 8 79646310 missense probably benign 0.01
Posted On2015-04-16