Incidental Mutation 'IGL03000:Cblb'
ID 407261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cblb
Ensembl Gene ENSMUSG00000022637
Gene Name Casitas B-lineage lymphoma b
Synonyms Cbl-b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # IGL03000
Quality Score
Status
Chromosome 16
Chromosomal Location 51851593-52028410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 52024905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 933 (D933E)
Ref Sequence ENSEMBL: ENSMUSP00000153787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114471] [ENSMUST00000226593] [ENSMUST00000227062] [ENSMUST00000227756] [ENSMUST00000227879]
AlphaFold Q3TTA7
Predicted Effect probably damaging
Transcript: ENSMUST00000114471
AA Change: D889E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: D889E

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
Pfam:Cbl_N 41 167 1.5e-58 PFAM
Pfam:Cbl_N2 171 254 2.9e-43 PFAM
SH2 257 354 3.22e0 SMART
RING 373 411 1.04e-7 SMART
low complexity region 447 454 N/A INTRINSIC
low complexity region 543 567 N/A INTRINSIC
low complexity region 666 682 N/A INTRINSIC
low complexity region 773 783 N/A INTRINSIC
low complexity region 792 804 N/A INTRINSIC
low complexity region 857 871 N/A INTRINSIC
UBA 888 925 4.06e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000226593
AA Change: D933E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227062
AA Change: D889E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000227756
AA Change: D781E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000227879
AA Change: D933E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit elevated IL2 production by T cells, develop spontaneous autoimmunity, and are highly susceptible to experimental autoimmune encephalomyelitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,360,959 (GRCm39) S445G probably benign Het
Abca5 C T 11: 110,208,640 (GRCm39) V226I probably benign Het
Ankrd34c A T 9: 89,611,239 (GRCm39) D367E probably benign Het
Bmp6 G T 13: 38,682,887 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Ccny A G 18: 9,353,489 (GRCm39) S95P probably benign Het
Cep192 A G 18: 67,985,115 (GRCm39) I1658V probably damaging Het
Cntn6 A T 6: 104,781,347 (GRCm39) T478S probably damaging Het
Cpne7 T C 8: 123,853,435 (GRCm39) F247L probably benign Het
Csf1r A G 18: 61,242,724 (GRCm39) E29G probably damaging Het
Dctn3 T A 4: 41,719,912 (GRCm39) I65F possibly damaging Het
Dock1 A G 7: 134,390,969 (GRCm39) E743G probably benign Het
Dus2 C A 8: 106,775,316 (GRCm39) T281N probably damaging Het
Gbx1 G T 5: 24,709,924 (GRCm39) T307K probably benign Het
Gtf2ird2 A T 5: 134,223,745 (GRCm39) N93I probably benign Het
Heatr1 A G 13: 12,449,292 (GRCm39) D1930G probably damaging Het
Hif3a T C 7: 16,782,564 (GRCm39) I334V probably benign Het
Ints1 G T 5: 139,752,261 (GRCm39) N756K probably benign Het
Kcnn2 T C 18: 45,693,635 (GRCm39) F404L probably damaging Het
Kmt2c G A 5: 25,489,170 (GRCm39) R4590W probably damaging Het
Limk1 A T 5: 134,699,355 (GRCm39) V134E probably damaging Het
Mep1a A G 17: 43,785,881 (GRCm39) V736A probably benign Het
Mex3a T A 3: 88,443,602 (GRCm39) I226N probably damaging Het
Mgl2 A T 11: 70,025,026 (GRCm39) K16* probably null Het
Mms22l G T 4: 24,581,161 (GRCm39) V864L probably damaging Het
Mroh4 T A 15: 74,487,963 (GRCm39) M320L probably benign Het
Mylk3 G A 8: 86,085,806 (GRCm39) P243S probably damaging Het
Nbea A C 3: 55,912,048 (GRCm39) D1246E possibly damaging Het
Ndnf A G 6: 65,680,299 (GRCm39) T193A possibly damaging Het
Nfasc T C 1: 132,549,247 (GRCm39) probably benign Het
Or6k8-ps1 A G 1: 173,979,126 (GRCm39) T15A probably benign Het
Ptprq A T 10: 107,378,518 (GRCm39) F2008I probably damaging Het
Rhag A G 17: 41,139,413 (GRCm39) K116R probably benign Het
Rictor T A 15: 6,798,721 (GRCm39) probably benign Het
Slc35f5 C A 1: 125,502,479 (GRCm39) T277N probably damaging Het
Sorcs2 A G 5: 36,222,675 (GRCm39) probably benign Het
Ssh2 T A 11: 77,312,032 (GRCm39) probably benign Het
Togaram2 T C 17: 72,024,365 (GRCm39) S830P probably benign Het
Trim30d T C 7: 104,122,476 (GRCm39) T112A probably benign Het
Ttc34 T C 4: 154,949,888 (GRCm39) V947A probably damaging Het
Ttn A G 2: 76,642,953 (GRCm39) probably benign Het
Ubr5 A T 15: 38,025,096 (GRCm39) V560D probably damaging Het
Ush2a A T 1: 188,282,053 (GRCm39) E1856V possibly damaging Het
Zfp142 T C 1: 74,612,777 (GRCm39) M457V probably benign Het
Zfp711 C T X: 111,534,555 (GRCm39) Q137* probably null Het
Zkscan17 T C 11: 59,377,986 (GRCm39) Y399C probably damaging Het
Zswim6 T G 13: 107,863,649 (GRCm39) noncoding transcript Het
Zswim6 T A 13: 107,863,650 (GRCm39) noncoding transcript Het
Other mutations in Cblb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Cblb APN 16 52,003,670 (GRCm39) missense probably benign 0.28
IGL00927:Cblb APN 16 51,986,461 (GRCm39) missense probably benign
IGL01108:Cblb APN 16 51,867,814 (GRCm39) critical splice donor site probably null
IGL01336:Cblb APN 16 52,006,592 (GRCm39) missense probably benign 0.00
IGL01943:Cblb APN 16 51,959,996 (GRCm39) splice site probably null
IGL02273:Cblb APN 16 51,867,657 (GRCm39) missense possibly damaging 0.95
IGL02405:Cblb APN 16 51,986,616 (GRCm39) missense probably benign 0.32
IGL02445:Cblb APN 16 51,986,668 (GRCm39) missense probably damaging 1.00
IGL02728:Cblb APN 16 52,003,672 (GRCm39) missense probably benign 0.04
PIT4362001:Cblb UTSW 16 51,959,905 (GRCm39) nonsense probably null
R0053:Cblb UTSW 16 51,963,164 (GRCm39) missense probably damaging 0.97
R0053:Cblb UTSW 16 51,963,164 (GRCm39) missense probably damaging 0.97
R0294:Cblb UTSW 16 51,956,187 (GRCm39) missense probably damaging 1.00
R0403:Cblb UTSW 16 51,972,989 (GRCm39) missense probably benign 0.23
R0506:Cblb UTSW 16 52,024,843 (GRCm39) missense probably benign 0.25
R1172:Cblb UTSW 16 52,006,603 (GRCm39) splice site probably benign
R1245:Cblb UTSW 16 51,867,550 (GRCm39) splice site probably benign
R1443:Cblb UTSW 16 51,959,974 (GRCm39) missense possibly damaging 0.95
R1549:Cblb UTSW 16 51,853,373 (GRCm39) splice site probably benign
R1568:Cblb UTSW 16 51,956,192 (GRCm39) missense probably damaging 1.00
R1734:Cblb UTSW 16 52,006,603 (GRCm39) splice site probably benign
R2107:Cblb UTSW 16 51,973,079 (GRCm39) critical splice donor site probably null
R2231:Cblb UTSW 16 52,014,635 (GRCm39) missense probably benign 0.00
R4419:Cblb UTSW 16 51,867,621 (GRCm39) missense possibly damaging 0.80
R4913:Cblb UTSW 16 51,986,392 (GRCm39) missense possibly damaging 0.78
R4940:Cblb UTSW 16 51,853,466 (GRCm39) missense probably damaging 1.00
R5159:Cblb UTSW 16 51,932,483 (GRCm39) missense probably damaging 0.97
R5318:Cblb UTSW 16 52,006,561 (GRCm39) missense possibly damaging 0.88
R5367:Cblb UTSW 16 52,025,016 (GRCm39) missense probably damaging 1.00
R5432:Cblb UTSW 16 51,963,228 (GRCm39) missense probably damaging 1.00
R5490:Cblb UTSW 16 51,994,733 (GRCm39) missense possibly damaging 0.52
R5618:Cblb UTSW 16 51,973,031 (GRCm39) missense possibly damaging 0.89
R6047:Cblb UTSW 16 51,932,611 (GRCm39) critical splice donor site probably null
R6152:Cblb UTSW 16 51,961,419 (GRCm39) missense probably damaging 0.98
R6667:Cblb UTSW 16 51,973,007 (GRCm39) missense possibly damaging 0.81
R6914:Cblb UTSW 16 51,867,793 (GRCm39) missense probably damaging 1.00
R7681:Cblb UTSW 16 52,025,001 (GRCm39) missense probably damaging 0.96
R7940:Cblb UTSW 16 51,972,899 (GRCm39) missense probably damaging 1.00
R8167:Cblb UTSW 16 51,986,365 (GRCm39) missense probably benign 0.13
R8236:Cblb UTSW 16 51,986,392 (GRCm39) missense possibly damaging 0.85
R8494:Cblb UTSW 16 52,025,003 (GRCm39) missense probably damaging 1.00
R8880:Cblb UTSW 16 51,986,368 (GRCm39) missense probably benign
R9308:Cblb UTSW 16 52,009,374 (GRCm39) critical splice acceptor site probably null
R9386:Cblb UTSW 16 51,986,701 (GRCm39) nonsense probably null
R9387:Cblb UTSW 16 51,853,515 (GRCm39) missense probably benign 0.12
R9500:Cblb UTSW 16 51,959,993 (GRCm39) critical splice donor site probably null
R9741:Cblb UTSW 16 51,932,490 (GRCm39) missense probably damaging 1.00
X0011:Cblb UTSW 16 51,972,992 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02