Incidental Mutation 'IGL00823:Otub1'
ID12887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otub1
Ensembl Gene ENSMUSG00000024767
Gene NameOTU domain, ubiquitin aldehyde binding 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00823
Quality Score
Status
Chromosome19
Chromosomal Location7198202-7206316 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 7204051 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025679] [ENSMUST00000123594] [ENSMUST00000142085]
Predicted Effect probably benign
Transcript: ENSMUST00000025679
SMART Domains Protein: ENSMUSP00000025679
Gene: ENSMUSG00000024767

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Peptidase_C65 40 271 1e-89 PFAM
Pfam:OTU 86 266 1.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123594
SMART Domains Protein: ENSMUSP00000115195
Gene: ENSMUSG00000024767

DomainStartEndE-ValueType
Pfam:Peptidase_C65 10 241 2e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127241
Predicted Effect probably benign
Transcript: ENSMUST00000142085
SMART Domains Protein: ENSMUSP00000122945
Gene: ENSMUSG00000024767

DomainStartEndE-ValueType
Pfam:Peptidase_C65 10 95 2.6e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,878,534 probably benign Het
Adam5 T C 8: 24,818,742 E39G probably benign Het
Anapc7 G A 5: 122,433,477 W205* probably null Het
Arhgap5 C T 12: 52,518,742 T832I possibly damaging Het
Arhgef10 T A 8: 14,940,378 probably benign Het
Atg5 A G 10: 44,363,044 T274A probably benign Het
Baiap2l2 G T 15: 79,284,565 probably benign Het
Brap T A 5: 121,665,227 M146K probably damaging Het
Brpf1 T C 6: 113,321,886 S1074P probably benign Het
Camta1 A C 4: 151,084,601 I231R probably benign Het
Ccdc15 C T 9: 37,320,413 G205D probably benign Het
Cd6 G T 19: 10,796,394 probably benign Het
Cdh17 T G 4: 11,783,412 S219R possibly damaging Het
Cgn G A 3: 94,767,209 R873W probably damaging Het
Ctnna3 C T 10: 63,537,543 P41L possibly damaging Het
Dmbt1 T C 7: 131,058,158 W484R probably benign Het
Dmd A G X: 84,425,813 probably null Het
Dnah17 C T 11: 118,047,161 V3347I probably benign Het
Fam122b A T X: 53,245,331 C222S probably damaging Het
Fgd5 T A 6: 91,988,459 S400T possibly damaging Het
Kitl C A 10: 100,087,344 probably benign Het
Lamc3 A T 2: 31,918,521 D763V probably damaging Het
Lgmn T C 12: 102,398,176 probably benign Het
Lpcat2 T G 8: 92,864,970 W81G possibly damaging Het
Myh13 A G 11: 67,355,947 I1165V probably benign Het
Nf1 A G 11: 79,565,517 D599G probably damaging Het
Nin T C 12: 70,014,793 N2099S probably benign Het
Nlrc4 T C 17: 74,447,990 D77G probably benign Het
Pah A G 10: 87,570,331 Y174C probably null Het
Papd4 T C 13: 93,186,397 T15A probably benign Het
Rbbp5 G A 1: 132,489,706 V88I probably damaging Het
Scn1a C T 2: 66,324,935 R560H probably benign Het
Snx5 T C 2: 144,255,565 I217V probably benign Het
Syne2 T C 12: 75,989,242 S3769P probably damaging Het
Tmem255b T C 8: 13,457,054 M261T probably benign Het
Top3b T C 16: 16,887,622 I417T probably damaging Het
Tspan2 T C 3: 102,758,233 probably null Het
Ttn T C 2: 76,709,713 T34310A possibly damaging Het
Ush2a G A 1: 188,911,443 C4334Y possibly damaging Het
Wdpcp A G 11: 21,659,995 D21G probably damaging Het
Yy2 A C X: 157,568,211 D186E probably benign Het
Other mutations in Otub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02755:Otub1 APN 19 7206259 start codon destroyed probably benign 0.08
R1545:Otub1 UTSW 19 7199206 missense probably benign 0.31
R2261:Otub1 UTSW 19 7199496 splice site probably null
R3422:Otub1 UTSW 19 7199059 missense probably damaging 1.00
R4583:Otub1 UTSW 19 7204436 missense possibly damaging 0.55
R4822:Otub1 UTSW 19 7204429 missense probably damaging 1.00
R5267:Otub1 UTSW 19 7199992 missense probably damaging 1.00
R5929:Otub1 UTSW 19 7199985 missense probably damaging 1.00
R6144:Otub1 UTSW 19 7199153 nonsense probably null
R7849:Otub1 UTSW 19 7200060 missense probably damaging 0.99
R8098:Otub1 UTSW 19 7204429 missense probably damaging 1.00
Posted On2012-12-06