Incidental Mutation 'IGL03189:Otud7b'
ID412591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otud7b
Ensembl Gene ENSMUSG00000038495
Gene NameOTU domain containing 7B
Synonyms4930463P07Rik, 2900060B22Rik, Za20d1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03189
Quality Score
Status
Chromosome3
Chromosomal Location96104527-96161129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 96155478 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 678 (S678N)
Ref Sequence ENSEMBL: ENSMUSP00000096449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035519] [ENSMUST00000090785] [ENSMUST00000098849]
Predicted Effect probably benign
Transcript: ENSMUST00000035519
AA Change: S678N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: S678N

DomainStartEndE-ValueType
PDB:2L2D|A 1 59 1e-25 PDB
low complexity region 112 124 N/A INTRINSIC
Pfam:OTU 189 359 4.9e-30 PFAM
low complexity region 482 498 N/A INTRINSIC
low complexity region 527 558 N/A INTRINSIC
low complexity region 821 836 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090785
AA Change: S678N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: S678N

DomainStartEndE-ValueType
PDB:2L2D|A 1 59 1e-25 PDB
low complexity region 112 124 N/A INTRINSIC
Pfam:OTU 189 359 4.9e-30 PFAM
low complexity region 482 498 N/A INTRINSIC
low complexity region 527 558 N/A INTRINSIC
low complexity region 821 836 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098849
AA Change: S678N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: S678N

DomainStartEndE-ValueType
PDB:2L2D|A 1 59 1e-25 PDB
low complexity region 112 124 N/A INTRINSIC
Pfam:OTU 189 359 4.7e-27 PFAM
low complexity region 482 498 N/A INTRINSIC
low complexity region 527 558 N/A INTRINSIC
Pfam:zf-A20 797 821 6.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135263
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, tertiary lymphoid hyperplasia, increased stimulated B cell proliferation and survival and decreased susceptibility to C. rodentium infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Otud7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Otud7b APN 3 96150980 splice site probably benign
IGL01651:Otud7b APN 3 96153490 nonsense probably null
IGL01941:Otud7b APN 3 96155459 missense probably benign 0.00
IGL02376:Otud7b APN 3 96155037 missense possibly damaging 0.48
IGL03047:Otud7b APN 3 96150984 splice site probably benign
PIT4434001:Otud7b UTSW 3 96140465 missense probably damaging 1.00
R0605:Otud7b UTSW 3 96144959 unclassified probably benign
R1364:Otud7b UTSW 3 96151451 missense probably damaging 1.00
R1570:Otud7b UTSW 3 96155891 missense probably damaging 1.00
R2172:Otud7b UTSW 3 96153520 intron probably null
R2199:Otud7b UTSW 3 96155772 missense probably damaging 1.00
R2842:Otud7b UTSW 3 96136594 missense probably damaging 1.00
R2914:Otud7b UTSW 3 96155955 missense probably benign 0.01
R4716:Otud7b UTSW 3 96150910 missense probably damaging 0.96
R4810:Otud7b UTSW 3 96136607 missense probably damaging 1.00
R4878:Otud7b UTSW 3 96136510 utr 5 prime probably benign
R5327:Otud7b UTSW 3 96155738 missense probably benign
R5376:Otud7b UTSW 3 96153524 intron probably null
R5530:Otud7b UTSW 3 96141488 missense probably damaging 1.00
R5741:Otud7b UTSW 3 96144304 missense probably damaging 1.00
R5877:Otud7b UTSW 3 96151960 nonsense probably null
R6365:Otud7b UTSW 3 96155250 missense probably benign 0.03
R7095:Otud7b UTSW 3 96155237 missense probably benign 0.01
R7404:Otud7b UTSW 3 96136625 critical splice donor site probably null
R7699:Otud7b UTSW 3 96155963 missense probably damaging 0.98
R7793:Otud7b UTSW 3 96155211 missense probably benign 0.01
R7840:Otud7b UTSW 3 96155373 missense probably damaging 1.00
Posted On2016-08-02