Incidental Mutation 'R4419:Cblb'
ID 327021
Institutional Source Beutler Lab
Gene Symbol Cblb
Ensembl Gene ENSMUSG00000022637
Gene Name Casitas B-lineage lymphoma b
Synonyms Cbl-b
MMRRC Submission 041140-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R4419 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 51851593-52028410 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51867621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 76 (D76E)
Ref Sequence ENSEMBL: ENSMUSP00000153787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114471] [ENSMUST00000226593] [ENSMUST00000227062] [ENSMUST00000227756] [ENSMUST00000227879]
AlphaFold Q3TTA7
Predicted Effect possibly damaging
Transcript: ENSMUST00000114471
AA Change: D76E

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110115
Gene: ENSMUSG00000022637
AA Change: D76E

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 possibly damaging
Transcript: ENSMUST00000226593
AA Change: D76E

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000227062
AA Change: D76E

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000227756
Predicted Effect possibly damaging
Transcript: ENSMUST00000227879
AA Change: D76E

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amdhd2 G A 17: 24,377,652 (GRCm39) P126L probably benign Het
Arfip2 T C 7: 105,288,270 (GRCm39) T44A probably damaging Het
B4galt1 A G 4: 40,853,537 (GRCm39) V90A probably benign Het
Bad C A 19: 6,928,053 (GRCm39) A115E probably benign Het
Bicc1 A G 10: 70,782,804 (GRCm39) L521P possibly damaging Het
Caskin1 T C 17: 24,723,683 (GRCm39) S824P probably damaging Het
Celsr3 G T 9: 108,720,443 (GRCm39) A2572S possibly damaging Het
Csmd3 T C 15: 47,567,707 (GRCm39) Q2152R probably damaging Het
D2hgdh T A 1: 93,757,535 (GRCm39) V150E probably damaging Het
Ddn C A 15: 98,703,492 (GRCm39) W600L probably benign Het
Dicer1 A T 12: 104,671,373 (GRCm39) Y966N probably damaging Het
Dsp T A 13: 38,379,108 (GRCm39) I1352N probably damaging Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Dysf T C 6: 84,184,224 (GRCm39) probably null Het
Elmo2 T C 2: 165,153,675 (GRCm39) probably null Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Ky G A 9: 102,419,909 (GRCm39) V639I probably damaging Het
Med16 G A 10: 79,734,216 (GRCm39) A566V probably benign Het
Mettl17 G T 14: 52,124,729 (GRCm39) G167C possibly damaging Het
Mgat4b T C 11: 50,123,813 (GRCm39) F318L probably damaging Het
Mug2 C A 6: 122,056,589 (GRCm39) A1178D probably damaging Het
Myo3b A G 2: 69,926,706 (GRCm39) D51G probably damaging Het
Naip2 T C 13: 100,297,133 (GRCm39) N968D probably benign Het
Nbea T C 3: 55,917,021 (GRCm39) H820R probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or10ak7 A T 4: 118,791,586 (GRCm39) I153N possibly damaging Het
Or6c68 T C 10: 129,157,684 (GRCm39) F64S possibly damaging Het
Or8b51 C T 9: 38,569,365 (GRCm39) V108I probably benign Het
Ppargc1a T C 5: 51,652,044 (GRCm39) D218G probably damaging Het
Rras A G 7: 44,670,003 (GRCm39) D145G probably damaging Het
Scn3a C A 2: 65,297,304 (GRCm39) G1452C probably damaging Het
Slc22a2 C A 17: 12,831,473 (GRCm39) S421* probably null Het
Slc39a10 A G 1: 46,849,226 (GRCm39) F797L probably benign Het
Spta1 T A 1: 174,074,990 (GRCm39) Y2405* probably null Het
Ss18 A G 18: 14,766,662 (GRCm39) Y359H unknown Het
St14 C T 9: 31,008,224 (GRCm39) C537Y probably damaging Het
Tmem252 T A 19: 24,654,910 (GRCm39) Y96N probably damaging Het
Trafd1 T C 5: 121,511,396 (GRCm39) D474G probably benign Het
Trmt1l A G 1: 151,316,559 (GRCm39) I20M probably damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn1r43 A G 6: 89,846,629 (GRCm39) S286P 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
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
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'- TTTGCCTGGAATAAGAAAACGG -3'
(R):5'- GCGACTGCTCTTCGTACATC -3'

Sequencing Primer
(F):5'- AGCAGATTCAATAATTCAGATCACAG -3'
(R):5'- ATCCTTTCCTTGCCTTCTTTAAAGAG -3'
Posted On 2015-07-07