Incidental Mutation 'IGL01782:Otud4'
ID153953
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: 0.115) question?
Stock #IGL01782
Quality Score
Status
Chromosome8
Chromosomal Location79639618-79677724 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 79673011 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 784 (F784V)
Ref Sequence ENSEMBL: ENSMUSP00000134097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173078] [ENSMUST00000173286]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172614
Predicted Effect possibly damaging
Transcript: ENSMUST00000173078
AA Change: F785V

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: F785V

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: F784V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: F784V

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T C 9: 63,616,713 V34A probably benign Het
Acacb G T 5: 114,200,520 G764W probably damaging Het
Ankib1 A G 5: 3,727,607 C428R probably damaging Het
Card11 A G 5: 140,927,726 M1T probably null Het
Ccdc62 T A 5: 123,954,576 N541K possibly damaging Het
Cep290 C T 10: 100,545,125 Q1742* probably null Het
Cyp2c23 T C 19: 44,029,115 T25A possibly damaging Het
Dtx2 C A 5: 136,010,127 Y13* probably null Het
Dync1h1 T C 12: 110,614,940 I273T probably damaging Het
E430018J23Rik T C 7: 127,393,304 T45A probably benign Het
Etfb A G 7: 43,454,542 T134A probably damaging Het
Fig4 A C 10: 41,270,400 L182R probably benign Het
Gm10220 A T 5: 26,117,023 L217Q probably damaging Het
Gm4871 T G 5: 145,030,360 probably benign Het
Gm5346 T A 8: 43,626,735 T151S probably benign Het
Gm5464 T C 14: 66,869,388 probably benign Het
Lurap1 A G 4: 116,144,503 probably benign Het
Mmp17 T A 5: 129,602,141 V368E probably damaging Het
Mrpl22 T A 11: 58,171,844 probably null Het
Nisch G A 14: 31,176,639 probably benign Het
Odf4 A T 11: 68,926,633 H76Q probably damaging Het
Olfr330 T A 11: 58,529,159 M276L probably benign Het
Olfr777 C T 10: 129,269,039 V95I probably benign Het
Orc1 T C 4: 108,606,268 S661P possibly damaging Het
Prkch A G 12: 73,759,662 D561G probably damaging Het
Pttg1ip T C 10: 77,581,929 probably null Het
Ranbp2 A G 10: 58,478,309 K1617R probably damaging Het
Rarb T G 14: 16,434,180 S333R probably damaging Het
Rps6ka2 A G 17: 7,236,124 K99E probably benign Het
Sel1l2 A T 2: 140,243,935 W542R probably damaging Het
Sema3g G T 14: 31,227,791 R643L probably damaging Het
Sltm T A 9: 70,573,641 D258E probably damaging Het
Stx18 G A 5: 38,106,611 V80I possibly damaging Het
Taar2 A T 10: 23,941,144 N194I probably damaging Het
Ube2r2 T C 4: 41,174,129 probably null Het
Unk C A 11: 116,058,379 N645K probably benign Het
Vmn1r73 A G 7: 11,756,738 K161R probably benign Het
Vps13a T C 19: 16,754,337 D137G probably damaging Het
Xrra1 A G 7: 99,875,194 T104A possibly damaging Het
Zfp410 T A 12: 84,327,274 probably benign Het
Other mutations in Otud4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Otud4 APN 8 79672881 missense probably damaging 0.99
IGL01353:Otud4 APN 8 79665021 missense probably benign
IGL01371:Otud4 APN 8 79673761 missense probably damaging 1.00
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
R7420:Otud4 UTSW 8 79664108 missense probably benign 0.11
R7470:Otud4 UTSW 8 79673360 missense probably benign 0.00
R7670:Otud4 UTSW 8 79655864 splice site probably null
R7736:Otud4 UTSW 8 79655765 missense possibly damaging 0.53
R8229:Otud4 UTSW 8 79673975 missense unknown
R8397:Otud4 UTSW 8 79669298 missense probably benign 0.06
R8520:Otud4 UTSW 8 79659267 missense probably damaging 1.00
X0024:Otud4 UTSW 8 79646310 missense probably benign 0.01
Z1176:Otud4 UTSW 8 79658929 missense probably benign
Z1177:Otud4 UTSW 8 79643811 nonsense probably null
Z1177:Otud4 UTSW 8 79643812 missense probably damaging 0.99
Z1177:Otud4 UTSW 8 79665027 missense possibly damaging 0.80
Posted On2014-02-04