Incidental Mutation 'IGL02445:Cblb'
ID 293565
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 # IGL02445
Quality Score
Status
Chromosome 16
Chromosomal Location 51851593-52028410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51986668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 485 (L485P)
Ref Sequence ENSEMBL: ENSMUSP00000153753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114471] [ENSMUST00000226593] [ENSMUST00000227062] [ENSMUST00000227756] [ENSMUST00000227879]
AlphaFold Q3TTA7
Predicted Effect probably benign
Transcript: ENSMUST00000114471
AA Change: L637P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: L637P

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 benign
Transcript: ENSMUST00000226593
AA Change: L637P

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000227062
AA Change: L637P

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably damaging
Transcript: ENSMUST00000227756
AA Change: L485P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227879
AA Change: L637P

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,383,198 (GRCm39) T2127M probably damaging Het
Acp2 A G 2: 91,036,606 (GRCm39) D175G possibly damaging Het
Adamts12 T C 15: 11,286,798 (GRCm39) L801P probably damaging Het
Adcy10 T G 1: 165,398,313 (GRCm39) V1470G possibly damaging Het
Ankar T G 1: 72,705,524 (GRCm39) K829Q probably benign Het
Arhgef10l T C 4: 140,274,318 (GRCm39) Y531C probably benign Het
Atm T C 9: 53,365,630 (GRCm39) I2590V probably benign Het
Brme1 T A 8: 84,886,137 (GRCm39) M31K probably benign Het
Col4a1 T C 8: 11,283,911 (GRCm39) probably benign Het
Coprs T C 8: 13,935,797 (GRCm39) K74R possibly damaging Het
Cul3 A T 1: 80,281,886 (GRCm39) L31M possibly damaging Het
Cyp3a59 C A 5: 146,033,463 (GRCm39) Q200K probably benign Het
Ddx19b C A 8: 111,735,456 (GRCm39) V402L probably damaging Het
Disc1 T A 8: 125,875,142 (GRCm39) probably benign Het
Dsg4 C T 18: 20,579,307 (GRCm39) probably benign Het
Dspp A C 5: 104,324,963 (GRCm39) Y442S probably damaging Het
Dtl C T 1: 191,290,172 (GRCm39) probably null Het
Ezh1 A C 11: 101,101,513 (GRCm39) V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 (GRCm39) G100D probably damaging Het
Herc1 T A 9: 66,340,764 (GRCm39) H1704Q possibly damaging Het
Itprid2 G A 2: 79,487,842 (GRCm39) E642K probably damaging Het
Kif26a T C 12: 112,140,177 (GRCm39) S469P probably damaging Het
Lefty1 T C 1: 180,765,242 (GRCm39) M270T probably benign Het
Nap1l3 A T X: 121,305,752 (GRCm39) V322D probably damaging Het
Ndufv2 A G 17: 66,387,889 (GRCm39) probably benign Het
Or14j5 A T 17: 38,162,008 (GRCm39) H175L probably damaging Het
Or4p18 G A 2: 88,232,456 (GRCm39) T274I possibly damaging Het
Or8b55 T C 9: 38,726,901 (GRCm39) I34T possibly damaging Het
Otol1 A T 3: 69,935,367 (GRCm39) D453V probably damaging Het
Papolb G A 5: 142,514,480 (GRCm39) H388Y probably benign Het
Ppp1r10 A G 17: 36,237,094 (GRCm39) E128G probably damaging Het
Prss12 T A 3: 123,280,669 (GRCm39) D451E probably damaging Het
Psmc1 T C 12: 100,081,087 (GRCm39) probably benign Het
Pygo1 T A 9: 72,833,222 (GRCm39) I10N probably benign Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Ret G A 6: 118,158,860 (GRCm39) T184I probably damaging Het
Rhd A T 4: 134,611,481 (GRCm39) M214L possibly damaging Het
Ripor3 C A 2: 167,834,682 (GRCm39) probably benign Het
Sec16a A G 2: 26,312,052 (GRCm39) L2036P probably benign Het
Slc26a3 C A 12: 31,507,051 (GRCm39) D335E possibly damaging Het
Taf6 A G 5: 138,182,756 (GRCm39) probably benign Het
Tnk2 T C 16: 32,494,408 (GRCm39) V442A probably benign Het
Virma A G 4: 11,527,029 (GRCm39) M1143V probably damaging Het
Vmn2r77 A T 7: 86,452,848 (GRCm39) R522* probably null Het
Vmn2r-ps129 A G 17: 23,227,393 (GRCm39) noncoding transcript Het
Zfp473 A G 7: 44,383,107 (GRCm39) C408R probably damaging 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
IGL02728:Cblb APN 16 52,003,672 (GRCm39) missense probably benign 0.04
IGL03000:Cblb APN 16 52,024,905 (GRCm39) missense probably damaging 1.00
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 2015-04-16