Mutagenetix > Incidental Mutations

Incidental Mutation 'R0583:Cblc'

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0583 (G1)

Quality Score

190

Status

Not validated

Chromosome

Chromosomal Location

19778881-19796809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19792561 bp

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]

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

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 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

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: 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,257,643	S483P	probably benign	Het
2700081O15Rik	A	G	19: 7,420,274	D62G	probably damaging	Het
5730480H06Rik	A	G	5: 48,380,128	H169R	probably damaging	Het
Actn1	T	A	12: 80,199,029	I127F	probably damaging	Het
AW822073	G	A	10: 58,223,388	L515F	probably damaging	Het
Cadm3	T	G	1: 173,341,171	T277P	probably benign	Het
Cast	T	C	13: 74,713,678	T629A	probably damaging	Het
Ccdc154	T	A	17: 25,168,424	D375E	possibly damaging	Het
Cdk6	A	G	5: 3,473,183	D201G	probably damaging	Het
Cep95	T	C	11: 106,814,623	V478A	probably benign	Het
Ciita	T	C	16: 10,523,804		probably null	Het
Clec4e	A	G	6: 123,283,694	F135S	probably damaging	Het
Cntn6	A	G	6: 104,776,314	D337G	possibly damaging	Het
Crlf3	A	T	11: 80,059,281	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,407,601	F93I	probably damaging	Het
Dopey2	T	C	16: 93,755,486	I271T	probably benign	Het
Fcho1	T	C	8: 71,715,725	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,903,990	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,121,813	V244A	possibly damaging	Het
Ikzf5	A	G	7: 131,391,785		probably null	Het
Ilvbl	T	A	10: 78,583,267	V450E	probably damaging	Het
Kcns3	T	G	12: 11,091,478	N407H	probably damaging	Het
Klhl11	T	C	11: 100,464,324	K224E	possibly damaging	Het
Klra17	T	A	6: 129,868,693	D186V	probably damaging	Het
Lrrc37a	T	C	11: 103,498,437	D2054G	probably benign	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrgbp	A	G	2: 180,584,446	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,256,166		probably null	Het
Muc5ac	C	A	7: 141,807,608	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,856,698	Y1269*	probably null	Het
Myef2	T	C	2: 125,097,981		probably null	Het
Myg1	C	T	15: 102,337,790	Q367*	probably null	Het
Nalcn	T	C	14: 123,294,343	N1365S	possibly damaging	Het
Nfu1	T	C	6: 87,009,952	C18R	probably benign	Het
Nkx2-6	A	T	14: 69,174,779	Q132L	probably damaging	Het
Olfr1085	T	A	2: 86,658,360	I33F	probably benign	Het
Olfr516	C	T	7: 108,845,414	A199T	possibly damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 143,743,893		probably benign	Het
Prh1	A	T	6: 132,571,833	Q101L	unknown	Het
Ribc2	A	T	15: 85,132,914		probably null	Het
Rnf19a	C	A	15: 36,253,005	R396L	probably damaging	Het
Sdad1	A	G	5: 92,305,064	I105T	probably damaging	Het
Sec24b	G	T	3: 130,041,311	Y79*	probably null	Het
Tatdn2	A	G	6: 113,702,525	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952	F725V	probably damaging	Het
Themis3	T	C	17: 66,559,753	D164G	probably benign	Het
Ubxn7	T	C	16: 32,375,914	W220R	probably damaging	Het
Usp33	C	A	3: 152,368,254	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,676,781	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,618,949	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Yme1l1	T	C	2: 23,186,250	V340A	probably damaging	Het

Other mutations in Cblc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Cblc	APN	7	19785275	missense	probably benign	0.00
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
R4696:Cblc	UTSW	7	19796482	missense	probably damaging	1.00
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'- CCCACATCCGTGATGATCCTGAAC -3'
(R):5'- GCTCCAAAATCCCTTAACTGCCCTG -3'

Sequencing Primer
(F):5'- TGAACACGGTTTATACACACAGG -3'
(R):5'- TTAACTGCCCTGCCCAAGG -3'

Posted On

2013-07-11