Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01866:Cbl'

178517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbl

Ensembl Gene

ENSMUSG00000034342

Gene Name

Casitas B-lineage lymphoma

Synonyms

Cbl-2, c-Cbl

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

IGL01866

Quality Score

Status

Chromosome

Chromosomal Location

44142976-44234049 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 44153825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 735 (C735*)

Ref Sequence

ENSEMBL: ENSMUSP00000146244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037644] [ENSMUST00000205968] [ENSMUST00000206147] [ENSMUST00000206720]

AlphaFold

P22682

Predicted Effect

probably null
Transcript: ENSMUST00000037644
AA Change: C691*

SMART Domains

Protein: ENSMUSP00000041902
Gene: ENSMUSG00000034342
AA Change: C691*

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000205313

Predicted Effect

probably null
Transcript: ENSMUST00000205968
AA Change: C718*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206125

Predicted Effect

probably null
Transcript: ENSMUST00000206147
AA Change: C735*

Predicted Effect

probably null
Transcript: ENSMUST00000206258
AA Change: C34*

Predicted Effect

probably null
Transcript: ENSMUST00000206720
AA Change: C735*

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	C	4: 144,528,549	Y180H	possibly damaging	Het
Abi3bp	A	T	16: 56,671,973	I1361L	probably benign	Het
Amph	A	T	13: 19,142,002	D634V	probably damaging	Het
Ank1	G	A	8: 23,093,855	V317I	possibly damaging	Het
Ap4e1	G	A	2: 127,046,910	V460I	possibly damaging	Het
Arhgap19	A	T	19: 41,786,577	H198Q	probably benign	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cacna1g	C	T	11: 94,457,111	G717D	probably damaging	Het
Camkk2	A	G	5: 122,763,950	S99P	probably damaging	Het
Catsperb	T	A	12: 101,509,311	Y371*	probably null	Het
Ccdc146	C	A	5: 21,333,054	A91S	probably damaging	Het
Col1a2	G	T	6: 4,524,132	D531Y	probably damaging	Het
Dscam	T	A	16: 96,685,350	T1042S	probably benign	Het
Dtnb	A	G	12: 3,732,626	Y363C	probably benign	Het
Ear10	A	G	14: 43,923,328	L14P	probably damaging	Het
Egf	A	G	3: 129,735,880	S294P	probably benign	Het
Erbb3	T	C	10: 128,569,368	*1340W	probably null	Het
Fam217b	A	G	2: 178,420,431	T63A	probably benign	Het
Fig4	G	A	10: 41,232,164	P680L	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm6882	T	A	7: 21,427,587	I119F	probably damaging	Het
Hdac10	C	A	15: 89,124,533	G442W	probably damaging	Het
Mc2r	C	T	18: 68,407,423	M266I	possibly damaging	Het
Mep1b	A	G	18: 21,094,993	Q551R	probably benign	Het
Mtrf1	T	A	14: 79,401,508	C27S	probably benign	Het
Myo5c	T	A	9: 75,269,582	M603K	probably benign	Het
Nuf2	A	G	1: 169,498,838	L448P	possibly damaging	Het
Olfr1535	T	C	13: 21,555,173	N283S	probably benign	Het
Olfr390	A	T	11: 73,787,828	I297L	probably benign	Het
Olfr517	C	T	7: 108,868,799	M118I	possibly damaging	Het
Olfr952	A	T	9: 39,426,729	M114K	probably damaging	Het
Ppp2r5c	T	C	12: 110,567,827	Y375H	probably benign	Het
Pstpip2	A	G	18: 77,877,625	I317M	probably benign	Het
Pxdn	A	G	12: 29,984,571	T208A	probably benign	Het
Rab3gap1	C	T	1: 127,891,080	H116Y	probably damaging	Het
Rarb	T	A	14: 16,443,751	D179V	probably benign	Het
Rasal1	G	A	5: 120,675,423	A621T	probably damaging	Het
Rnf6	G	A	5: 146,210,907	R434C	probably damaging	Het
Scn10a	C	A	9: 119,635,502	E1011*	probably null	Het
Sec24d	C	T	3: 123,293,595	Q137*	probably null	Het
Slc35g1	C	A	19: 38,403,194	A308E	probably damaging	Het
Smtnl1	C	A	2: 84,818,745	C55F	possibly damaging	Het
Stt3a	A	T	9: 36,734,366	D676E	probably benign	Het
Sytl2	T	C	7: 90,381,839		probably benign	Het
Trabd2b	A	G	4: 114,408,920	T44A	probably damaging	Het
Trim12a	T	C	7: 104,304,153		probably benign	Het
Tti1	A	T	2: 158,007,698	D540E	probably benign	Het
Tubgcp6	A	G	15: 89,103,488	V1094A	probably benign	Het
Vmn1r34	A	G	6: 66,637,389	Y122H	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfp579	T	A	7: 4,994,258	Q218L	possibly damaging	Het

Other mutations in Cbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Cbl	APN	9	44201198	missense	probably damaging	1.00
IGL01369:Cbl	APN	9	44201061	nonsense	probably null
IGL01434:Cbl	APN	9	44164206	missense	probably damaging	0.99
IGL02326:Cbl	APN	9	44151473	missense	possibly damaging	0.94
IGL02956:Cbl	APN	9	44169034	missense	probably damaging	1.00
Bungalow	UTSW	9	44201119	missense	probably damaging	1.00
Casita	UTSW	9	44164165	missense	probably damaging	1.00
tiny_house	UTSW	9	44164152	missense	probably damaging	1.00
R0068:Cbl	UTSW	9	44154194	missense	probably damaging	0.98
R0390:Cbl	UTSW	9	44201005	missense	probably damaging	1.00
R0655:Cbl	UTSW	9	44158752	missense	probably damaging	1.00
R0764:Cbl	UTSW	9	44164152	missense	probably damaging	1.00
R1466:Cbl	UTSW	9	44154244	missense	probably benign	0.10
R1466:Cbl	UTSW	9	44154244	missense	probably benign	0.10
R1616:Cbl	UTSW	9	44152900	missense	probably damaging	0.99
R1736:Cbl	UTSW	9	44152895	missense	possibly damaging	0.80
R1808:Cbl	UTSW	9	44164229	missense	probably damaging	1.00
R1865:Cbl	UTSW	9	44164165	missense	probably damaging	1.00
R3156:Cbl	UTSW	9	44158850	missense	possibly damaging	0.74
R3431:Cbl	UTSW	9	44151446	makesense	probably null
R4668:Cbl	UTSW	9	44153848	missense	probably benign	0.00
R4700:Cbl	UTSW	9	44173380	missense	probably damaging	1.00
R4866:Cbl	UTSW	9	44152869	missense	probably benign	0.00
R4900:Cbl	UTSW	9	44152869	missense	probably benign	0.00
R4995:Cbl	UTSW	9	44153811	missense	possibly damaging	0.62
R5014:Cbl	UTSW	9	44154399	splice site	probably null
R5324:Cbl	UTSW	9	44154254	missense	probably damaging	0.97
R5353:Cbl	UTSW	9	44173323	missense	probably damaging	1.00
R5382:Cbl	UTSW	9	44159021	missense	probably benign
R5747:Cbl	UTSW	9	44201119	missense	probably damaging	1.00
R5834:Cbl	UTSW	9	44233779	missense	probably damaging	1.00
R6307:Cbl	UTSW	9	44158512	critical splice donor site	probably null
R6755:Cbl	UTSW	9	44173374	missense	probably damaging	0.98
R7393:Cbl	UTSW	9	44154188	critical splice donor site	probably null
R7779:Cbl	UTSW	9	44159096	missense	probably benign
R7789:Cbl	UTSW	9	44163467	missense	probably damaging	1.00
R8094:Cbl	UTSW	9	44163399	missense	probably benign	0.03
R8104:Cbl	UTSW	9	44158539	missense	possibly damaging	0.93
R8146:Cbl	UTSW	9	44164874	missense	probably damaging	1.00
R8340:Cbl	UTSW	9	44159000	missense	possibly damaging	0.77
R8424:Cbl	UTSW	9	44152854	missense	possibly damaging	0.51
R8920:Cbl	UTSW	9	44167273	missense	probably damaging	0.99
R9185:Cbl	UTSW	9	44152840	missense	probably damaging	1.00
X0057:Cbl	UTSW	9	44233767	small deletion	probably benign

Posted On

2014-05-07