Incidental Mutation 'IGL01651:Otud7b'
ID102837
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 #IGL01651
Quality Score
Status
Chromosome3
Chromosomal Location96104527-96161129 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 96153490 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 441 (Q441*)
Ref Sequence ENSEMBL: ENSMUSP00000096449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035519] [ENSMUST00000090785] [ENSMUST00000098849]
Predicted Effect probably null
Transcript: ENSMUST00000035519
AA Change: Q441*
SMART Domains Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: Q441*

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 null
Transcript: ENSMUST00000090785
AA Change: Q441*
SMART Domains Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: Q441*

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 null
Transcript: ENSMUST00000098849
AA Change: Q441*
SMART Domains Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: Q441*

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T C 2: 181,494,738 probably benign Het
Alms1 T A 6: 85,656,476 V2980E probably benign Het
Anxa7 A G 14: 20,456,501 L457P probably damaging Het
Asic2 T C 11: 80,894,030 D310G probably damaging Het
Btbd9 T C 17: 30,220,417 S599G unknown Het
Col25a1 G A 3: 130,566,485 M487I probably benign Het
Ddx42 T A 11: 106,248,029 F885I probably benign Het
Foxi3 T C 6: 70,956,991 V154A probably damaging Het
Golga3 A C 5: 110,192,905 probably null Het
Igdcc4 T C 9: 65,124,112 V491A possibly damaging Het
Kcnh7 T A 2: 62,734,284 D877V possibly damaging Het
Kcnu1 A G 8: 25,861,095 D162G probably damaging Het
Morc2a T C 11: 3,658,727 probably null Het
Ndufv2 T C 17: 66,089,471 N47S possibly damaging Het
Npepl1 T A 2: 174,114,388 probably benign Het
Olfr424 A T 1: 174,137,341 D199V probably damaging Het
Pard3b A C 1: 62,479,804 probably benign Het
Pfkfb3 T C 2: 11,489,684 E143G probably damaging Het
Pphln1 C A 15: 93,488,983 Q321K probably damaging Het
Rnf121 A G 7: 102,042,655 S2P probably damaging Het
Slc25a42 G A 8: 70,186,600 R276C possibly damaging Het
Smgc T C 15: 91,859,788 probably benign Het
Tdrd5 C T 1: 156,301,827 M104I probably benign Het
Vmn2r26 T A 6: 124,050,673 N457K probably benign Het
Zfp474 T C 18: 52,638,583 S103P probably damaging Het
Zfp53 A G 17: 21,508,086 N127S probably benign Het
Other mutations in Otud7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Otud7b APN 3 96150980 splice site probably benign
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
IGL03189:Otud7b APN 3 96155478 missense 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 splice site 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 splice site 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 On2014-01-21