Incidental Mutation 'R1549:Cblb'
ID 271576
Institutional Source Beutler Lab
Gene Symbol Cblb
Ensembl Gene ENSMUSG00000022637
Gene Name Casitas B-lineage lymphoma b
Synonyms Cbl-b
MMRRC Submission 039588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R1549 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 51851593-52028410 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 51853373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114471] [ENSMUST00000226593] [ENSMUST00000227062] [ENSMUST00000227879]
AlphaFold Q3TTA7
Predicted Effect probably benign
Transcript: ENSMUST00000114471
SMART Domains Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637

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 noncoding transcript
Transcript: ENSMUST00000226253
Predicted Effect probably benign
Transcript: ENSMUST00000226593
Predicted Effect probably benign
Transcript: ENSMUST00000227062
Predicted Effect probably benign
Transcript: ENSMUST00000227879
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 97% (58/60)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,441 (GRCm39) I157K probably benign Het
Ank3 A T 10: 69,837,812 (GRCm39) N727Y probably benign Het
Atg16l1 A G 1: 87,701,910 (GRCm39) T251A probably benign Het
Bcl11b T A 12: 107,883,422 (GRCm39) I226F probably damaging Het
Birc6 A G 17: 74,969,737 (GRCm39) H4260R probably damaging Het
Camta1 A G 4: 151,670,920 (GRCm39) I85T probably damaging Het
Ccnd1 T G 7: 144,491,073 (GRCm39) I178L probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Col17a1 C T 19: 47,637,349 (GRCm39) probably benign Het
Col7a1 A G 9: 108,785,034 (GRCm39) T254A unknown Het
Ctif C A 18: 75,698,096 (GRCm39) R188L probably damaging Het
Cyp2c69 A T 19: 39,831,430 (GRCm39) L461Q probably benign Het
Ddc A G 11: 11,796,656 (GRCm39) probably null Het
Dpp10 T A 1: 123,269,109 (GRCm39) probably null Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Eif2b4 T C 5: 31,350,265 (GRCm39) E19G possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt14 A G 17: 73,832,308 (GRCm39) L269P possibly damaging Het
Gm2381 T A 7: 42,471,825 (GRCm39) H18L probably benign Het
Gpbp1 G T 13: 111,573,113 (GRCm39) D326E probably benign Het
Gpr162 C T 6: 124,837,051 (GRCm39) R331H probably damaging Het
Iigp1 G A 18: 60,522,948 (GRCm39) G22D probably benign Het
Kcns3 T C 12: 11,142,084 (GRCm39) H205R probably damaging Het
Klk1b26 C T 7: 43,665,826 (GRCm39) probably benign Het
Lime1 A G 2: 181,025,169 (GRCm39) Y242C probably benign Het
Manba A G 3: 135,250,567 (GRCm39) D398G probably damaging Het
Mapk3 A T 7: 126,362,684 (GRCm39) K219* probably null Het
Mdfic G T 6: 15,799,844 (GRCm39) G324C probably damaging Het
Mdga1 G A 17: 30,056,972 (GRCm39) H837Y probably damaging Het
Nck1 T A 9: 100,379,925 (GRCm39) M109L probably benign Het
Or1d2 A G 11: 74,256,076 (GRCm39) I194V probably benign Het
Or2w1b T C 13: 21,300,288 (GRCm39) V142A probably benign Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Phf3 C T 1: 30,843,923 (GRCm39) V1679I probably benign Het
Pou4f1 T C 14: 104,705,076 (GRCm39) I32V probably benign Het
Pspc1 T G 14: 56,986,398 (GRCm39) H351P probably damaging Het
Ptk7 T C 17: 46,883,578 (GRCm39) E829G probably damaging Het
Rab23 A G 1: 33,777,378 (GRCm39) Y164C possibly damaging Het
Slc36a3 A G 11: 55,033,596 (GRCm39) W141R probably damaging Het
Slc7a14 T C 3: 31,278,267 (GRCm39) E446G possibly damaging Het
Stim2 G A 5: 54,262,667 (GRCm39) R303Q probably damaging Het
Tbcd A G 11: 121,451,579 (GRCm39) I550V probably benign Het
Tmed3 A C 9: 89,581,998 (GRCm39) L155R probably damaging Het
Trav16d-dv11 A G 14: 53,284,799 (GRCm39) probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Usp16 G T 16: 87,261,722 (GRCm39) V113F probably damaging Het
Vmn2r12 T G 5: 109,240,696 (GRCm39) Y139S probably benign Het
Vmn2r5 G T 3: 64,411,421 (GRCm39) D382E probably damaging Het
Zfp1010 T C 2: 176,957,378 (GRCm39) E40G probably damaging Het
Zfp217 A C 2: 169,956,390 (GRCm39) N869K probably benign Het
Zswim2 G T 2: 83,754,092 (GRCm39) D189E probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CTTGGCGAAATCAAACAGCGTGAAG -3'
(R):5'- AAATCGCATTCAGGGTGCTGAGGG -3'

Sequencing Primer
(F):5'- AACTTGGAGGATGCCCTTAC -3'
(R):5'- ACTGACTGAACTCACCACTTTG -3'
Posted On 2015-03-23