Incidental Mutation 'IGL03063:Otud4'
ID409542
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: 0.150) question?
Stock #IGL03063
Quality Score
Status
Chromosome8
Chromosomal Location79639618-79677724 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 79663790 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 343 (M343K)
Ref Sequence ENSEMBL: ENSMUSP00000134097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173078] [ENSMUST00000173286]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172614
Predicted Effect probably benign
Transcript: ENSMUST00000173078
AA Change: M344K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: M344K

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 probably benign
Transcript: ENSMUST00000173286
AA Change: M343K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: M343K

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: ENSMUST00000173300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173868
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 46,016,432 V255I probably benign Het
Arfgef2 T C 2: 166,859,782 probably benign Het
Bpifb2 A T 2: 153,889,124 Q205L probably damaging Het
Ccdc30 C T 4: 119,349,767 R386Q possibly damaging Het
Cdk5rap2 T A 4: 70,354,877 probably null Het
Comtd1 A G 14: 21,847,667 probably null Het
Dao T C 5: 114,021,015 C261R probably damaging Het
Dner A G 1: 84,585,338 V187A possibly damaging Het
Dsg3 T C 18: 20,533,368 probably benign Het
Eif3j2 A G 18: 43,477,379 L123P possibly damaging Het
Esf1 G A 2: 140,154,786 probably benign Het
Exo5 G A 4: 120,921,633 T345I possibly damaging Het
Fancl A T 11: 26,387,299 I29F probably damaging Het
Gadl1 C T 9: 115,966,267 H313Y probably damaging Het
Gm17190 G A 13: 96,082,762 probably benign Het
Gtf3c1 G T 7: 125,646,503 T1580N possibly damaging Het
Gtf3c6 T A 10: 40,251,159 I66L probably benign Het
Hhla1 A G 15: 65,941,790 I231T probably damaging Het
Hk2 A G 6: 82,739,649 Y273H probably damaging Het
Hk2 A G 6: 82,749,232 I83T probably benign Het
Ifit1 T C 19: 34,648,004 V180A possibly damaging Het
Igkv9-129 A T 6: 67,840,188 D92V probably damaging Het
Lrrc1 A G 9: 77,499,269 F36S probably damaging Het
Man1b1 A G 2: 25,334,404 E102G possibly damaging Het
Myh8 A G 11: 67,288,205 S475G probably benign Het
Olfr593 T A 7: 103,212,634 V247D probably damaging Het
Peg10 A T 6: 4,756,647 probably benign Het
Plet1 T A 9: 50,504,422 N197K probably benign Het
Ppp1r12a C T 10: 108,261,254 R243C probably damaging Het
Serpinb10 A T 1: 107,542,227 K146N possibly damaging Het
Sis A G 3: 72,928,297 F911L probably benign Het
Spon1 G A 7: 114,033,025 V528M possibly damaging Het
Tdrd9 T C 12: 112,044,299 V1100A probably benign Het
Tmtc3 T C 10: 100,447,606 M696V probably benign Het
Triobp A G 15: 78,990,884 E122G probably damaging Het
Wt1 G A 2: 105,170,023 probably null 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
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
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 intron 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
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 On2016-08-02