Mutagenetix > Incidental Mutations

Incidental Mutation 'R4696:Cblc'

355694

Institutional Source

Beutler Lab

Gene Symbol

Cblc

Ensembl Gene

ENSMUSG00000040525

Gene Name

Casitas B-lineage lymphoma c

Synonyms

2310076I21Rik, Cbl3, 2310079L19Rik

MMRRC Submission

041946-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4696 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19778881-19796809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19796482 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 101 (G101C)

Ref Sequence

ENSEMBL: ENSMUSP00000104088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043822] [ENSMUST00000108449]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043822
AA Change: G101C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: G101C

Domain	Start	End	E-Value	Type
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: G101C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: G101C

Domain	Start	End	E-Value	Type
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: ENSMUST00000131276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145755

Meta Mutation Damage Score

0.2676

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (74/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	G	A	7: 4,151,615	P58L	possibly damaging	Het
Abcc3	T	C	11: 94,350,991	S1405G	probably benign	Het
Acaca	T	C	11: 84,280,435	V1165A	possibly damaging	Het
Acin1	C	A	14: 54,643,017		probably benign	Het
Akr1b8	G	A	6: 34,363,377	V159I	probably benign	Het
Alms1	T	C	6: 85,620,522	Y777H	probably damaging	Het
Cic	A	G	7: 25,288,483	N1532S	probably benign	Het
Cipc	T	A	12: 86,952,940		probably benign	Het
Clca4b	T	C	3: 144,911,385	I835V	probably benign	Het
Cntrob	C	T	11: 69,320,888	G170D	probably damaging	Het
Col14a1	A	G	15: 55,372,602	Q304R	unknown	Het
Csmd3	T	C	15: 47,913,968	T1181A	probably benign	Het
Dchs1	A	G	7: 105,764,627	F994L	probably damaging	Het
Ddx42	C	A	11: 106,247,703	A776D	probably benign	Het
Ddx58	A	G	4: 40,203,798		probably benign	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dmpk	A	T	7: 19,088,214	N366Y	probably damaging	Het
Dmrt1	A	G	19: 25,603,310	Y362C	possibly damaging	Het
Dock10	C	T	1: 80,515,613	G1880D	possibly damaging	Het
Dzip1l	A	G	9: 99,663,611	R638G	possibly damaging	Het
Dzip3	T	A	16: 48,925,969		probably benign	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Eno4	T	C	19: 58,945,636	S90P	probably damaging	Het
Epn2	C	G	11: 61,535,303	A283P	probably damaging	Het
Eya3	T	A	4: 132,670,232	Y67*	probably null	Het
Fat2	T	C	11: 55,285,015	N1624S	probably benign	Het
Fez1	T	A	9: 36,870,470		probably null	Het
Fgfr1	T	C	8: 25,563,488	S260P	probably damaging	Het
Glb1	A	G	9: 114,464,152	S532G	probably benign	Het
Gm15455	A	T	1: 33,837,793		noncoding transcript	Het
Grid2ip	A	G	5: 143,391,376		probably benign	Het
Guca2b	C	A	4: 119,656,799	G129V	probably damaging	Het
Hes3	T	C	4: 152,287,667	E65G	probably damaging	Het
Itgbl1	T	C	14: 123,966,708	C404R	probably damaging	Het
Kansl1	C	T	11: 104,356,767	V586I	possibly damaging	Het
Krt18	A	G	15: 102,031,858	D390G	probably benign	Het
Laptm5	T	C	4: 130,933,671		probably benign	Het
Lgals3bp	C	T	11: 118,398,151	E116K	probably benign	Het
Lrrc39	C	T	3: 116,570,120	S114F	probably damaging	Het
Mfap3	T	C	11: 57,528,291		probably null	Het
Nphp3	A	G	9: 104,022,732	H481R	probably benign	Het
Ntm	T	C	9: 29,179,205	T73A	possibly damaging	Het
Olfr1026	T	A	2: 85,918,871		probably null	Het
Olfr967	T	A	9: 39,750,728	M114K	probably damaging	Het
Pbk	G	A	14: 65,811,937	C21Y	probably benign	Het
Pglyrp1	A	G	7: 18,884,946	E74G	probably benign	Het
R3hdm1	G	T	1: 128,236,766		probably benign	Het
Rap1gds1	T	C	3: 138,927,614	T599A	probably damaging	Het
Rims1	A	T	1: 22,288,612	M1273K	probably damaging	Het
Sbf1	G	A	15: 89,303,112	R721*	probably null	Het
Slc17a1	T	C	13: 23,880,717	I388T	probably damaging	Het
Sprn	A	C	7: 140,153,556		probably benign	Het
Tango6	T	C	8: 106,700,231	V459A	possibly damaging	Het
Tert	C	T	13: 73,627,820	T230I	probably benign	Het
Thada	T	C	17: 84,426,186	D1011G	possibly damaging	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trip11	A	T	12: 101,885,290	N838K	possibly damaging	Het
Ttn	A	G	2: 76,767,653	W19639R	probably damaging	Het
Ubr4	T	A	4: 139,408,672	S924T	probably benign	Het
Upb1	A	G	10: 75,415,027	E110G	probably benign	Het
Vegfa	C	T	17: 46,028,346		probably null	Het
Vmn1r231	T	C	17: 20,890,639	K5E	possibly damaging	Het
Vmn2r16	A	T	5: 109,339,302	I130F	probably benign	Het
Wscd2	T	A	5: 113,551,179	V82E	probably benign	Het
Zfp462	A	G	4: 55,008,612	T193A	probably benign	Het
Zfp467	A	G	6: 48,439,357		probably benign	Het
Zfp619	T	C	7: 39,536,988	L814P	probably benign	Het

Other mutations in Cblc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Cblc	APN	7	19785275	missense	probably benign	0.00
R0583:Cblc	UTSW	7	19792561	missense	probably benign	0.41
R0847:Cblc	UTSW	7	19790534	nonsense	probably null
R1594:Cblc	UTSW	7	19792546	missense	probably damaging	1.00
R1626:Cblc	UTSW	7	19796502	missense	probably damaging	1.00
R1719:Cblc	UTSW	7	19790474	missense	probably benign	0.00
R1894:Cblc	UTSW	7	19792577	missense	probably damaging	0.99
R2011:Cblc	UTSW	7	19784822	missense	probably benign	0.01
R2395:Cblc	UTSW	7	19785380	missense	probably damaging	1.00
R2852:Cblc	UTSW	7	19780964	splice site	probably null
R3832:Cblc	UTSW	7	19792172	missense	probably damaging	0.98
R5159:Cblc	UTSW	7	19785308	missense	probably benign	0.01
R5328:Cblc	UTSW	7	19792580	missense	possibly damaging	0.68
R5487:Cblc	UTSW	7	19784808	missense	probably benign	0.06
R5659:Cblc	UTSW	7	19792932	missense	probably damaging	1.00
R6209:Cblc	UTSW	7	19785305	missense	possibly damaging	0.47
R6519:Cblc	UTSW	7	19792863	missense	probably damaging	1.00
R6841:Cblc	UTSW	7	19792896	missense	probably damaging	1.00
R7371:Cblc	UTSW	7	19792903	missense	probably benign	0.00
R7417:Cblc	UTSW	7	19788974	missense	probably benign	0.41
R7494:Cblc	UTSW	7	19792812	missense	possibly damaging	0.76
X0028:Cblc	UTSW	7	19785273	missense	probably benign
Z1177:Cblc	UTSW	7	19785278	missense	not run

Predicted Primers

PCR Primer
(F):5'- AGGAGAGTTGAAGCTTGTACTTCTG -3'
(R):5'- AATGCAGGGATCCCAGGATG -3'

Sequencing Primer
(F):5'- AAGCTTGTACTTCTGGGTCTGAAG -3'
(R):5'- AGGGATCCCAGGATGGTCAC -3'

Posted On

2015-10-21