Incidental Mutation 'IGL01941:Otud7b'
ID181163
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 #IGL01941
Quality Score
Status
Chromosome3
Chromosomal Location96104527-96161129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 96155459 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 672 (G672C)
Ref Sequence ENSEMBL: ENSMUSP00000096449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035519] [ENSMUST00000090785] [ENSMUST00000098849]
Predicted Effect probably benign
Transcript: ENSMUST00000035519
AA Change: G672C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: G672C

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: G672C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: G672C

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: G672C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: G672C

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,044,801 L123Q probably benign Het
Abca2 C T 2: 25,443,095 S1602F probably benign Het
Abcc9 C A 6: 142,605,904 C1191F probably damaging Het
Adam3 G T 8: 24,681,446 probably benign Het
Aldh1l1 G T 6: 90,562,695 G202V probably damaging Het
Ankrd46 T C 15: 36,485,937 N57D possibly damaging Het
Asic1 A T 15: 99,699,101 H548L possibly damaging Het
Atpaf2 A G 11: 60,403,898 I233T probably benign Het
Ccdc129 A G 6: 55,968,045 R584G probably benign Het
Ccdc185 G T 1: 182,748,204 Q307K probably benign Het
Cep120 T C 18: 53,723,148 D399G probably benign Het
Cnn2 G A 10: 79,992,554 V122M probably benign Het
Dgkd T C 1: 87,924,559 S472P probably damaging Het
Dock5 A C 14: 67,812,232 I701S probably damaging Het
Efl1 A G 7: 82,697,976 E570G probably benign Het
Eln G A 5: 134,718,170 probably benign Het
Fat2 A G 11: 55,312,005 V81A probably benign Het
Fbxw21 T G 9: 109,148,156 I162L probably benign Het
Fhl2 G A 1: 43,131,672 Q161* probably null Het
Gabrg2 A G 11: 41,971,721 Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm7714 A G 5: 88,282,442 S66G probably benign Het
Grik5 A T 7: 25,065,182 I152N probably damaging Het
H2-Ab1 A T 17: 34,267,434 K156* probably null Het
Hecw1 T C 13: 14,316,310 Y699C probably benign Het
Ipo9 A C 1: 135,408,073 V202G possibly damaging Het
Jmjd6 A T 11: 116,841,358 probably null Het
Lama5 A G 2: 180,192,392 I1416T possibly damaging Het
Matn1 T C 4: 130,952,261 probably benign Het
Mavs T C 2: 131,246,605 V443A probably damaging Het
Mpdz A T 4: 81,286,387 S1798R possibly damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Olfr1251 A T 2: 89,667,468 C139* probably null Het
Palld T A 8: 61,535,700 T572S probably benign Het
Pde6b T A 5: 108,423,036 V379E probably benign Het
Peak1 A G 9: 56,258,775 V623A probably damaging Het
Prr12 C T 7: 45,048,659 probably benign Het
Rxra T C 2: 27,754,241 I315T probably damaging Het
Slc11a1 C T 1: 74,377,179 A55V probably damaging Het
Slitrk3 T C 3: 73,051,071 N123D possibly damaging Het
Spcs1 A G 14: 31,000,872 M82T probably damaging Het
Sspo A G 6: 48,495,182 E113G probably benign Het
Syne2 A G 12: 75,967,220 K3062E probably benign Het
Traf3ip2 T C 10: 39,634,660 S310P probably benign Het
Ubp1 T C 9: 113,956,758 L167S probably damaging Het
Vmn1r196 T A 13: 22,293,699 C169* probably null Het
Vmn1r223 T A 13: 23,250,237 F334I possibly damaging Het
Vmn2r10 A T 5: 108,995,954 I710N probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr26 A G 1: 181,211,070 probably benign Het
Wnt7a A G 6: 91,394,663 F106L probably benign Het
Zfp940 C T 7: 29,846,870 V34M probably damaging 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
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 On2014-05-07