Incidental Mutation 'R3832:Cblc'
ID 274055
Institutional Source Beutler Lab
Gene Symbol Cblc
Ensembl Gene ENSMUSG00000040525
Gene Name Casitas B-lineage lymphoma c
Synonyms 2310076I21Rik, Cbl3, 2310079L19Rik
MMRRC Submission 040887-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3832 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 19513643-19530734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19526097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 238 (M238V)
Ref Sequence ENSEMBL: ENSMUSP00000104088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043822] [ENSMUST00000108449]
AlphaFold Q80XL1
Predicted Effect possibly damaging
Transcript: ENSMUST00000043822
AA Change: M238V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: M238V

DomainStartEndE-ValueType
Pfam:Cbl_N 13 144 2.6e-44 PFAM
Pfam:Cbl_N2 148 231 1.8e-35 PFAM
SH2 234 347 4.35e0 SMART
RING 350 388 1.92e-6 SMART
low complexity region 458 473 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108449
AA Change: M238V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: M238V

DomainStartEndE-ValueType
Pfam:Cbl_N 11 145 7.1e-20 PFAM
Pfam:Cbl_N2 147 231 2.3e-48 PFAM
SH2 234 333 5.28e0 SMART
low complexity region 414 429 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131602
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145755
Meta Mutation Damage Score 0.1041 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no abnormalities of the epithelium or other tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Aldh1a7 T C 19: 20,685,602 (GRCm39) Y316C probably damaging Het
Arhgef38 T C 3: 132,912,686 (GRCm39) R118G possibly damaging Het
Bcar3 A G 3: 122,220,298 (GRCm39) D65G probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Ccdc3 A G 2: 5,233,953 (GRCm39) N259S probably benign Het
Cep55 A G 19: 38,041,560 (GRCm39) probably benign Het
Col6a1 T C 10: 76,546,951 (GRCm39) D757G unknown Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Erich3 G A 3: 154,467,998 (GRCm39) V817M probably damaging Het
Gdf6 T C 4: 9,844,568 (GRCm39) S31P probably benign Het
Gtsf1 T C 15: 103,333,902 (GRCm39) I25V probably damaging Het
Hephl1 T C 9: 14,981,044 (GRCm39) E796G probably damaging Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Klhl28 C A 12: 64,998,195 (GRCm39) G433V probably damaging Het
Lipn T C 19: 34,046,933 (GRCm39) probably null Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Or14c44 A T 7: 86,062,401 (GRCm39) Y277F probably damaging Het
Or14j5 T C 17: 38,162,071 (GRCm39) V196A probably benign Het
Otud1 G C 2: 19,662,951 (GRCm39) A27P possibly damaging Het
Pcdhga6 A T 18: 37,841,479 (GRCm39) N400Y probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pdzd7 A T 19: 45,028,693 (GRCm39) V150E probably damaging Het
Peak1 T C 9: 56,165,667 (GRCm39) S754G probably benign Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Phlpp1 G A 1: 106,320,327 (GRCm39) E1441K probably damaging Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pikfyve G A 1: 65,283,579 (GRCm39) V739I probably damaging Het
Plcg1 T G 2: 160,596,357 (GRCm39) M651R possibly damaging Het
Prex2 T C 1: 11,226,588 (GRCm39) probably benign Het
Pus3 G C 9: 35,477,874 (GRCm39) G369R probably benign Het
Rab11fip1 G A 8: 27,642,774 (GRCm39) T675I probably benign Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Sco1 T C 11: 66,944,605 (GRCm39) V76A probably damaging Het
Slc39a8 T A 3: 135,554,894 (GRCm39) C113S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Snd1 G T 6: 28,531,403 (GRCm39) probably benign Het
Tbc1d9 A G 8: 83,960,292 (GRCm39) S182G probably damaging Het
Tecta A C 9: 42,250,329 (GRCm39) F1816C probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Trim47 T C 11: 115,998,783 (GRCm39) T279A probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Vcam1 T C 3: 115,908,140 (GRCm39) T641A possibly damaging Het
Vmn1r16 A G 6: 57,300,212 (GRCm39) F137L probably benign Het
Vmn2r17 T A 5: 109,576,262 (GRCm39) W378R probably damaging Het
Zfp777 T C 6: 48,021,149 (GRCm39) T158A probably benign Het
Zp1 T C 19: 10,893,888 (GRCm39) D439G probably damaging Het
Other mutations in Cblc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Cblc APN 7 19,519,200 (GRCm39) missense probably benign 0.00
R0583:Cblc UTSW 7 19,526,486 (GRCm39) missense probably benign 0.41
R0847:Cblc UTSW 7 19,524,459 (GRCm39) nonsense probably null
R1594:Cblc UTSW 7 19,526,471 (GRCm39) missense probably damaging 1.00
R1626:Cblc UTSW 7 19,530,427 (GRCm39) missense probably damaging 1.00
R1719:Cblc UTSW 7 19,524,399 (GRCm39) missense probably benign 0.00
R1894:Cblc UTSW 7 19,526,502 (GRCm39) missense probably damaging 0.99
R2011:Cblc UTSW 7 19,518,747 (GRCm39) missense probably benign 0.01
R2395:Cblc UTSW 7 19,519,305 (GRCm39) missense probably damaging 1.00
R2852:Cblc UTSW 7 19,514,889 (GRCm39) splice site probably null
R4696:Cblc UTSW 7 19,530,407 (GRCm39) missense probably damaging 1.00
R5159:Cblc UTSW 7 19,519,233 (GRCm39) missense probably benign 0.01
R5328:Cblc UTSW 7 19,526,505 (GRCm39) missense possibly damaging 0.68
R5487:Cblc UTSW 7 19,518,733 (GRCm39) missense probably benign 0.06
R5659:Cblc UTSW 7 19,526,857 (GRCm39) missense probably damaging 1.00
R6209:Cblc UTSW 7 19,519,230 (GRCm39) missense possibly damaging 0.47
R6519:Cblc UTSW 7 19,526,788 (GRCm39) missense probably damaging 1.00
R6841:Cblc UTSW 7 19,526,821 (GRCm39) missense probably damaging 1.00
R7371:Cblc UTSW 7 19,526,828 (GRCm39) missense probably benign 0.00
R7417:Cblc UTSW 7 19,522,899 (GRCm39) missense probably benign 0.41
R7494:Cblc UTSW 7 19,526,737 (GRCm39) missense possibly damaging 0.76
R8195:Cblc UTSW 7 19,519,262 (GRCm39) missense possibly damaging 0.78
R8253:Cblc UTSW 7 19,520,157 (GRCm39) missense probably damaging 1.00
X0028:Cblc UTSW 7 19,519,198 (GRCm39) missense probably benign
Z1177:Cblc UTSW 7 19,519,203 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- AGGAACCTCAATTCTTAGCCTCTC -3'
(R):5'- ACCACTGAGTCTTGGGGAAG -3'

Sequencing Primer
(F):5'- TCAGAAGTTGAGGGATTCCGCC -3'
(R):5'- CCTGTGTGTATAAACCGTGTTCAG -3'
Posted On 2015-04-02