Incidental Mutation 'R0583:Cblc'
ID 56508
Institutional Source Beutler Lab
Gene Symbol Cblc
Ensembl Gene ENSMUSG00000040525
Gene Name Casitas B-lineage lymphoma c
Synonyms 2310076I21Rik, Cbl3, 2310079L19Rik
MMRRC Submission 038773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0583 (G1)
Quality Score 190
Status Not validated
Chromosome 7
Chromosomal Location 19513643-19530734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 19526486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 201 (C201F)
Ref Sequence ENSEMBL: ENSMUSP00000104088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043822] [ENSMUST00000108449]
AlphaFold Q80XL1
Predicted Effect probably benign
Transcript: ENSMUST00000043822
AA Change: C201F

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: C201F

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 benign
Transcript: ENSMUST00000108449
AA Change: C201F

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: C201F

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 93.2%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,926 (GRCm39) S483P probably benign Het
5730480H06Rik A G 5: 48,537,470 (GRCm39) H169R probably damaging Het
Actn1 T A 12: 80,245,803 (GRCm39) I127F probably damaging Het
Cadm3 T G 1: 173,168,738 (GRCm39) T277P probably benign Het
Cast T C 13: 74,861,797 (GRCm39) T629A probably damaging Het
Ccdc154 T A 17: 25,387,398 (GRCm39) D375E possibly damaging Het
Cdk6 A G 5: 3,523,183 (GRCm39) D201G probably damaging Het
Cep95 T C 11: 106,705,449 (GRCm39) V478A probably benign Het
Ciita T C 16: 10,341,668 (GRCm39) probably null Het
Clec4e A G 6: 123,260,653 (GRCm39) F135S probably damaging Het
Cntn6 A G 6: 104,753,275 (GRCm39) D337G possibly damaging Het
Crlf3 A T 11: 79,950,107 (GRCm39) H174Q probably damaging Het
Cyb5r1 T A 1: 134,335,339 (GRCm39) F93I probably damaging Het
Dop1b T C 16: 93,552,374 (GRCm39) I271T probably benign Het
Duxf1 G A 10: 58,059,210 (GRCm39) L515F probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fhad1 C T 4: 141,631,301 (GRCm39) M1297I probably benign Het
Igdcc4 T C 9: 65,029,095 (GRCm39) V244A possibly damaging Het
Ikzf5 A G 7: 130,993,514 (GRCm39) probably null Het
Ilvbl T A 10: 78,419,101 (GRCm39) V450E probably damaging Het
Kcns3 T G 12: 11,141,479 (GRCm39) N407H probably damaging Het
Klhl11 T C 11: 100,355,150 (GRCm39) K224E possibly damaging Het
Klra17 T A 6: 129,845,656 (GRCm39) D186V probably damaging Het
Lrrc37a T C 11: 103,389,263 (GRCm39) D2054G probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrgbp A G 2: 180,226,239 (GRCm39) N104S probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Muc5ac C A 7: 141,361,345 (GRCm39) T1552N probably damaging Het
Muc5b T A 7: 141,410,435 (GRCm39) Y1269* probably null Het
Myef2 T C 2: 124,939,901 (GRCm39) probably null Het
Myg1 C T 15: 102,246,225 (GRCm39) Q367* probably null Het
Nalcn T C 14: 123,531,755 (GRCm39) N1365S possibly damaging Het
Nfu1 T C 6: 86,986,934 (GRCm39) C18R probably benign Het
Nkx2-6 A T 14: 69,412,228 (GRCm39) Q132L probably damaging Het
Or10a3b C T 7: 108,444,621 (GRCm39) A199T possibly damaging Het
Or8k38 T A 2: 86,488,704 (GRCm39) I33F probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prh1 A T 6: 132,548,796 (GRCm39) Q101L unknown Het
Ribc2 A T 15: 85,017,115 (GRCm39) probably null Het
Rnf19a C A 15: 36,253,151 (GRCm39) R396L probably damaging Het
Sdad1 A G 5: 92,452,923 (GRCm39) I105T probably damaging Het
Sec24b G T 3: 129,834,960 (GRCm39) Y79* probably null Het
Tatdn2 A G 6: 113,679,486 (GRCm39) E277G possibly damaging Het
Tex10 A C 4: 48,451,952 (GRCm39) F725V probably damaging Het
Themis3 T C 17: 66,866,748 (GRCm39) D164G probably benign Het
Ubxn7 T C 16: 32,194,732 (GRCm39) W220R probably damaging Het
Usp33 C A 3: 152,073,891 (GRCm39) R246S probably damaging Het
Vmn2r102 T A 17: 19,897,043 (GRCm39) V130E probably benign Het
Vmn2r112 C T 17: 22,837,930 (GRCm39) P797L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Yme1l1 T C 2: 23,076,262 (GRCm39) V340A probably damaging Het
Zfta A G 19: 7,397,639 (GRCm39) D62G probably damaging Het
Other mutations in Cblc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Cblc APN 7 19,519,200 (GRCm39) missense probably benign 0.00
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
R3832:Cblc UTSW 7 19,526,097 (GRCm39) missense probably damaging 0.98
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'- CCCACATCCGTGATGATCCTGAAC -3'
(R):5'- GCTCCAAAATCCCTTAACTGCCCTG -3'

Sequencing Primer
(F):5'- TGAACACGGTTTATACACACAGG -3'
(R):5'- TTAACTGCCCTGCCCAAGG -3'
Posted On 2013-07-11