Incidental Mutation 'R8467:Otud7b'
ID 656870
Institutional Source Beutler Lab
Gene Symbol Otud7b
Ensembl Gene ENSMUSG00000038495
Gene Name OTU domain containing 7B
Synonyms Za20d1, 2900060B22Rik, 4930463P07Rik
MMRRC Submission 067911-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8467 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 96011839-96068446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96062993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 744 (D744G)
Ref Sequence ENSEMBL: ENSMUSP00000096449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035519] [ENSMUST00000090785] [ENSMUST00000098849]
AlphaFold B2RUR8
Predicted Effect probably benign
Transcript: ENSMUST00000035519
AA Change: D744G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: D744G

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: D744G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: D744G

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: D744G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: D744G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (38/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apon G A 10: 128,091,002 (GRCm39) V227I probably benign Het
Arl9 T C 5: 77,154,446 (GRCm39) I58T probably damaging Het
C4b T C 17: 34,951,787 (GRCm39) T1326A possibly damaging Het
Cd55b A C 1: 130,347,501 (GRCm39) S103R possibly damaging Het
Cep350 A G 1: 155,791,321 (GRCm39) F1268L probably benign Het
D17H6S53E T A 17: 35,346,246 (GRCm39) D52E probably damaging Het
Dhx57 G C 17: 80,561,853 (GRCm39) P887R probably damaging Het
Ehd1 T G 19: 6,331,318 (GRCm39) S159A probably benign Het
Fam98a C A 17: 75,851,830 (GRCm39) G84W probably damaging Het
Fbxl22 C T 9: 66,421,849 (GRCm39) probably null Het
Gbp11 T A 5: 105,475,457 (GRCm39) Y297F probably damaging Het
Gimap8 A G 6: 48,627,269 (GRCm39) H81R probably benign Het
Gpd2 A G 2: 57,254,596 (GRCm39) E680G possibly damaging Het
Grid2 A G 6: 64,510,635 (GRCm39) D755G probably benign Het
Hivep3 T C 4: 119,952,238 (GRCm39) Y185H probably damaging Het
Hunk A G 16: 90,293,508 (GRCm39) R597G probably damaging Het
Igfbp3 A G 11: 7,163,523 (GRCm39) C90R probably damaging Het
Il7r T C 15: 9,512,973 (GRCm39) T179A probably benign Het
Iqsec3 G A 6: 121,358,676 (GRCm39) T1003I probably benign Het
Kif13b A T 14: 64,996,154 (GRCm39) D980V probably damaging Het
Kif21b A G 1: 136,100,021 (GRCm39) D1525G probably damaging Het
Lgsn A G 1: 31,242,731 (GRCm39) E271G probably benign Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Marchf10 A T 11: 105,280,979 (GRCm39) Y435* probably null Het
Msantd5 A G 11: 51,125,105 (GRCm39) I108V possibly damaging Het
Mup9 C T 4: 60,376,481 (GRCm39) probably null Het
Myo6 T A 9: 80,136,168 (GRCm39) V97E probably damaging Het
Nobox G T 6: 43,282,479 (GRCm39) D309E probably benign Het
Nup155 A G 15: 8,151,015 (GRCm39) D355G probably benign Het
Or6n1 A T 1: 173,917,007 (GRCm39) T134S probably benign Het
Phgdh A G 3: 98,228,627 (GRCm39) V182A probably benign Het
Scarb1 A T 5: 125,375,731 (GRCm39) I231N probably damaging Het
Scn9a A G 2: 66,332,015 (GRCm39) L1276P probably damaging Het
Smarca2 T A 19: 26,597,121 (GRCm39) M1K probably null Het
Sp3 G A 2: 72,801,482 (GRCm39) T177I possibly damaging Het
Vmn1r21 A T 6: 57,821,441 (GRCm39) M1K probably null Het
Zfyve16 A T 13: 92,644,790 (GRCm39) H1137Q probably damaging Het
Other mutations in Otud7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01344:Otud7b APN 3 96,058,297 (GRCm39) splice site probably benign
IGL01651:Otud7b APN 3 96,060,807 (GRCm39) nonsense probably null
IGL01941:Otud7b APN 3 96,062,776 (GRCm39) missense probably benign 0.00
IGL02376:Otud7b APN 3 96,062,354 (GRCm39) missense possibly damaging 0.48
IGL03047:Otud7b APN 3 96,058,301 (GRCm39) splice site probably benign
IGL03189:Otud7b APN 3 96,062,795 (GRCm39) missense probably benign
PIT4434001:Otud7b UTSW 3 96,047,776 (GRCm39) missense probably damaging 1.00
R0605:Otud7b UTSW 3 96,052,270 (GRCm39) unclassified probably benign
R1364:Otud7b UTSW 3 96,058,768 (GRCm39) missense probably damaging 1.00
R1570:Otud7b UTSW 3 96,063,208 (GRCm39) missense probably damaging 1.00
R2172:Otud7b UTSW 3 96,060,837 (GRCm39) splice site probably null
R2199:Otud7b UTSW 3 96,063,089 (GRCm39) missense probably damaging 1.00
R2842:Otud7b UTSW 3 96,043,905 (GRCm39) missense probably damaging 1.00
R2914:Otud7b UTSW 3 96,063,272 (GRCm39) missense probably benign 0.01
R4716:Otud7b UTSW 3 96,058,227 (GRCm39) missense probably damaging 0.96
R4810:Otud7b UTSW 3 96,043,918 (GRCm39) missense probably damaging 1.00
R4878:Otud7b UTSW 3 96,043,821 (GRCm39) utr 5 prime probably benign
R5327:Otud7b UTSW 3 96,063,055 (GRCm39) missense probably benign
R5376:Otud7b UTSW 3 96,060,841 (GRCm39) splice site probably null
R5530:Otud7b UTSW 3 96,048,799 (GRCm39) missense probably damaging 1.00
R5741:Otud7b UTSW 3 96,051,615 (GRCm39) missense probably damaging 1.00
R5877:Otud7b UTSW 3 96,059,277 (GRCm39) nonsense probably null
R6365:Otud7b UTSW 3 96,062,567 (GRCm39) missense probably benign 0.03
R7095:Otud7b UTSW 3 96,062,554 (GRCm39) missense probably benign 0.01
R7404:Otud7b UTSW 3 96,043,936 (GRCm39) critical splice donor site probably null
R7699:Otud7b UTSW 3 96,063,280 (GRCm39) missense probably damaging 0.98
R7793:Otud7b UTSW 3 96,062,528 (GRCm39) missense probably benign 0.01
R7840:Otud7b UTSW 3 96,062,690 (GRCm39) missense probably damaging 1.00
R9045:Otud7b UTSW 3 96,059,895 (GRCm39) missense probably benign 0.29
R9136:Otud7b UTSW 3 96,059,815 (GRCm39) splice site probably benign
R9234:Otud7b UTSW 3 96,047,771 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAGTTAGTGGGCCTCCTCC -3'
(R):5'- TAGAAGCTGCAGTTCGGTTG -3'

Sequencing Primer
(F):5'- AGGACCAGCCCAGTGACTC -3'
(R):5'- AAGCTGCAGTTCGGTTGTTTGC -3'
Posted On 2021-01-18