Incidental Mutation 'IGL00590:Cbl'
ID 9418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbl
Ensembl Gene ENSMUSG00000034342
Gene Name Casitas B-lineage lymphoma
Synonyms Cbl-2, 4732447J05Rik, c-Cbl
Accession Numbers
Essential gene? Possibly essential (E-score: 0.503) question?
Stock # IGL00590
Quality Score
Status
Chromosome 9
Chromosomal Location 44054273-44145346 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44112495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 67 (L67V)
Ref Sequence ENSEMBL: ENSMUSP00000146287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037644] [ENSMUST00000205755] [ENSMUST00000205968] [ENSMUST00000206147] [ENSMUST00000206720]
AlphaFold P22682
Predicted Effect probably damaging
Transcript: ENSMUST00000037644
AA Change: L67V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041902
Gene: ENSMUSG00000034342
AA Change: L67V

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
Pfam:Cbl_N 49 173 9.4e-59 PFAM
Pfam:Cbl_N2 177 260 4.7e-44 PFAM
Pfam:Cbl_N3 262 347 7.2e-48 PFAM
RING 379 417 1.04e-7 SMART
low complexity region 454 463 N/A INTRINSIC
low complexity region 530 549 N/A INTRINSIC
UBA 864 901 3.17e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205755
Predicted Effect probably damaging
Transcript: ENSMUST00000205968
AA Change: L67V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206147
AA Change: L67V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000206720
AA Change: L67V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased thymic CD3 and CD4 expression and tyrosine-phosphorylation, lymphoid hyperplasia, and altered splenic hemopoiesis. Females show increased ductal density and branching in mammary fat pads. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,023,038 (GRCm39) F58C probably damaging Het
Adgrf5 G T 17: 43,764,038 (GRCm39) G1320V probably damaging Het
Akap13 A G 7: 75,260,417 (GRCm39) K211E probably benign Het
Akap8l T C 17: 32,552,071 (GRCm39) D402G possibly damaging Het
Akna T C 4: 63,290,115 (GRCm39) I1198V probably benign Het
Apaf1 T A 10: 90,859,650 (GRCm39) I832F probably damaging Het
Chl1 T C 6: 103,670,022 (GRCm39) Y471H probably benign Het
Cystm1 T A 18: 36,499,728 (GRCm39) Y48N unknown Het
Dennd5b T C 6: 148,969,806 (GRCm39) T216A probably benign Het
Dpep2 A T 8: 106,715,453 (GRCm39) M356K probably damaging Het
Dtymk A G 1: 93,722,446 (GRCm39) probably null Het
Fam91a1 A G 15: 58,287,565 (GRCm39) D4G possibly damaging Het
Fbxl20 A G 11: 97,983,955 (GRCm39) L306P probably damaging Het
Fchsd1 C T 18: 38,098,946 (GRCm39) probably benign Het
Fndc1 G A 17: 7,983,933 (GRCm39) T1331I unknown Het
Gpatch8 T C 11: 102,371,375 (GRCm39) D721G unknown Het
Gsg1 A T 6: 135,221,348 (GRCm39) I17N possibly damaging Het
Heyl A G 4: 123,140,423 (GRCm39) *327W probably null Het
Kif13b G T 14: 65,016,911 (GRCm39) R1359L probably damaging Het
Map3k14 C T 11: 103,128,380 (GRCm39) G414S probably damaging Het
Meis2 C T 2: 115,699,274 (GRCm39) A330T probably damaging Het
Mrpl9 T C 3: 94,351,003 (GRCm39) L61P probably damaging Het
Mrps6 A G 16: 91,896,548 (GRCm39) N38D probably benign Het
Muc4 C T 16: 32,575,465 (GRCm39) T1407I probably benign Het
Nup107 A G 10: 117,599,708 (GRCm39) Y604H probably damaging Het
Pgm2l1 T C 7: 99,904,826 (GRCm39) probably null Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Rb1cc1 T C 1: 6,308,520 (GRCm39) F52S probably damaging Het
Rnft1 T A 11: 86,386,740 (GRCm39) W383R probably damaging Het
Tas2r104 A T 6: 131,662,530 (GRCm39) W60R probably damaging Het
Tlr11 A G 14: 50,598,373 (GRCm39) T120A probably benign Het
Tmem150b T G 7: 4,726,896 (GRCm39) I71L probably benign Het
Zfp296 A G 7: 19,311,760 (GRCm39) D89G possibly damaging Het
Other mutations in Cbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Cbl APN 9 44,112,358 (GRCm39) nonsense probably null
IGL01434:Cbl APN 9 44,075,503 (GRCm39) missense probably damaging 0.99
IGL01866:Cbl APN 9 44,065,122 (GRCm39) nonsense probably null
IGL02326:Cbl APN 9 44,062,770 (GRCm39) missense possibly damaging 0.94
IGL02956:Cbl APN 9 44,080,331 (GRCm39) missense probably damaging 1.00
Bungalow UTSW 9 44,112,416 (GRCm39) missense probably damaging 1.00
Casita UTSW 9 44,075,462 (GRCm39) missense probably damaging 1.00
tiny_house UTSW 9 44,075,449 (GRCm39) missense probably damaging 1.00
R0068:Cbl UTSW 9 44,065,491 (GRCm39) missense probably damaging 0.98
R0390:Cbl UTSW 9 44,112,302 (GRCm39) missense probably damaging 1.00
R0655:Cbl UTSW 9 44,070,049 (GRCm39) missense probably damaging 1.00
R0764:Cbl UTSW 9 44,075,449 (GRCm39) missense probably damaging 1.00
R1466:Cbl UTSW 9 44,065,541 (GRCm39) missense probably benign 0.10
R1466:Cbl UTSW 9 44,065,541 (GRCm39) missense probably benign 0.10
R1616:Cbl UTSW 9 44,064,197 (GRCm39) missense probably damaging 0.99
R1736:Cbl UTSW 9 44,064,192 (GRCm39) missense possibly damaging 0.80
R1808:Cbl UTSW 9 44,075,526 (GRCm39) missense probably damaging 1.00
R1865:Cbl UTSW 9 44,075,462 (GRCm39) missense probably damaging 1.00
R3156:Cbl UTSW 9 44,070,147 (GRCm39) missense possibly damaging 0.74
R3431:Cbl UTSW 9 44,062,743 (GRCm39) makesense probably null
R4668:Cbl UTSW 9 44,065,145 (GRCm39) missense probably benign 0.00
R4700:Cbl UTSW 9 44,084,677 (GRCm39) missense probably damaging 1.00
R4866:Cbl UTSW 9 44,064,166 (GRCm39) missense probably benign 0.00
R4900:Cbl UTSW 9 44,064,166 (GRCm39) missense probably benign 0.00
R4995:Cbl UTSW 9 44,065,108 (GRCm39) missense possibly damaging 0.62
R5014:Cbl UTSW 9 44,065,696 (GRCm39) splice site probably null
R5324:Cbl UTSW 9 44,065,551 (GRCm39) missense probably damaging 0.97
R5353:Cbl UTSW 9 44,084,620 (GRCm39) missense probably damaging 1.00
R5382:Cbl UTSW 9 44,070,318 (GRCm39) missense probably benign
R5747:Cbl UTSW 9 44,112,416 (GRCm39) missense probably damaging 1.00
R5834:Cbl UTSW 9 44,145,076 (GRCm39) missense probably damaging 1.00
R6307:Cbl UTSW 9 44,069,809 (GRCm39) critical splice donor site probably null
R6755:Cbl UTSW 9 44,084,671 (GRCm39) missense probably damaging 0.98
R7393:Cbl UTSW 9 44,065,485 (GRCm39) critical splice donor site probably null
R7779:Cbl UTSW 9 44,070,393 (GRCm39) missense probably benign
R7789:Cbl UTSW 9 44,074,764 (GRCm39) missense probably damaging 1.00
R8094:Cbl UTSW 9 44,074,696 (GRCm39) missense probably benign 0.03
R8104:Cbl UTSW 9 44,069,836 (GRCm39) missense possibly damaging 0.93
R8146:Cbl UTSW 9 44,076,171 (GRCm39) missense probably damaging 1.00
R8340:Cbl UTSW 9 44,070,297 (GRCm39) missense possibly damaging 0.77
R8424:Cbl UTSW 9 44,064,151 (GRCm39) missense possibly damaging 0.51
R8920:Cbl UTSW 9 44,078,570 (GRCm39) missense probably damaging 0.99
R9185:Cbl UTSW 9 44,064,137 (GRCm39) missense probably damaging 1.00
X0057:Cbl UTSW 9 44,145,064 (GRCm39) small deletion probably benign
Posted On 2012-12-06