Mutagenetix > Incidental Mutations

Incidental Mutation 'R6841:Cblc'

538029

Institutional Source

Beutler Lab

Gene Symbol

Cblc

Ensembl Gene

ENSMUSG00000040525

Gene Name

Casitas B-lineage lymphoma c

Synonyms

2310076I21Rik, Cbl3, 2310079L19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19778881-19796809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19792896 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 137 (L137P)

Ref Sequence

ENSEMBL: ENSMUSP00000104088 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000043822
AA Change: L137P

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

SMART Domains

Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: L137P

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: L137P

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

SMART Domains

Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: L137P

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

Meta Mutation Damage Score

0.6041

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	C	14: 49,243,813		probably null	Het
4932438A13Rik	A	G	3: 37,021,481	Y3610C	probably damaging	Het
A730071L15Rik	G	A	11: 6,200,439	W137*	probably null	Het
Acads	G	A	5: 115,112,358	T169I	probably benign	Het
Adgrg7	T	A	16: 56,750,424	N414Y	probably damaging	Het
Ankrd35	T	A	3: 96,670,426	S6T	probably damaging	Het
Armc3	A	G	2: 19,201,819		probably null	Het
Atp9a	C	A	2: 168,654,220	V555F	possibly damaging	Het
Cars2	C	T	8: 11,516,198	V443I	probably benign	Het
Cdk5r1	T	A	11: 80,478,195	C229*	probably null	Het
Cep85	C	G	4: 134,155,856	A241P	probably benign	Het
Cfap54	T	C	10: 92,875,015	Y2728C	unknown	Het
Ckap5	T	A	2: 91,570,252	W650R	probably damaging	Het
Cnot11	C	T	1: 39,540,067	Q12*	probably null	Het
Commd6	A	T	14: 101,637,098	D19E	probably damaging	Het
Crygc	C	T	1: 65,073,202	G71D	possibly damaging	Het
Cstf3	A	G	2: 104,655,731	K439E	probably benign	Het
Cyp11b2	G	T	15: 74,855,491	H114N	probably benign	Het
Cyp2d40	T	C	15: 82,761,486	D106G	probably benign	Het
Dhx8	T	A	11: 101,764,792	V1117E	probably damaging	Het
Duoxa1	G	T	2: 122,303,981	L219I	probably damaging	Het
Dynap	A	T	18: 70,241,182	I91N	probably damaging	Het
Elfn1	G	T	5: 139,973,145	G635W	probably damaging	Het
Fan1	A	T	7: 64,364,629	I618N	probably damaging	Het
Fras1	A	G	5: 96,728,551	D2381G	probably damaging	Het
Fxyd6	T	A	9: 45,391,553		probably null	Het
Gpr137b	A	T	13: 13,363,509	W286R	probably damaging	Het
Gpsm3	A	T	17: 34,590,562		probably null	Het
Has1	C	T	17: 17,843,860	V506I	probably benign	Het
Hoxd10	T	A	2: 74,692,272	V98D	probably benign	Het
Htr2b	T	A	1: 86,099,893	D297V	probably benign	Het
Hydin	G	C	8: 110,538,375	R2730P	probably benign	Het
I830077J02Rik	T	C	3: 105,926,514	N109D	possibly damaging	Het
Igf2r	A	T	17: 12,703,376	F1284I	probably damaging	Het
Ildr2	C	G	1: 166,270,575	D167E	probably damaging	Het
Ipo9	T	C	1: 135,386,308	D949G	probably benign	Het
Itga10	T	C	3: 96,656,714	F895L	probably damaging	Het
Itpr1	A	G	6: 108,388,192	N27S	probably damaging	Het
Klra4	C	A	6: 130,065,199	R35L	probably benign	Het
Map3k2	T	A	18: 32,226,629	C512S	probably benign	Het
Mertk	A	G	2: 128,759,230		probably null	Het
Mgat2	T	A	12: 69,185,633	I327N	probably damaging	Het
Mogat1	T	C	1: 78,522,859	I59T	probably damaging	Het
Mrpl2	A	T	17: 46,647,456	M55L	probably benign	Het
Nxpe3	T	C	16: 55,844,322	M512V	possibly damaging	Het
Pcdh15	T	C	10: 74,450,220	L769P	probably damaging	Het
Pcmtd2	T	G	2: 181,844,438	V117G	probably damaging	Het
Pdia2	A	T	17: 26,196,604		probably null	Het
Repin1	A	T	6: 48,597,925	Q593L	possibly damaging	Het
Rnf213	C	T	11: 119,449,866	T3517I	probably benign	Het
Rxfp2	A	T	5: 150,018,745		probably benign	Het
Skint8	T	C	4: 111,928,771	L138P	probably damaging	Het
Slc35a3	T	A	3: 116,712,768	Q5L	probably null	Het
Stab2	T	A	10: 86,942,190	N758I	probably damaging	Het
Sulf1	T	A	1: 12,838,434	I557N	probably damaging	Het
Tbc1d8	T	C	1: 39,389,374	I497V	possibly damaging	Het
Ticam2	A	C	18: 46,560,931	S30A	probably benign	Het
Timp3	T	C	10: 86,345,774	S170P	possibly damaging	Het
Top1mt	C	T	15: 75,676,124	E38K	probably benign	Het
Tpp1	G	A	7: 105,748,964	L331F	probably damaging	Het
Trpm7	A	T	2: 126,813,021	D1332E	probably benign	Het
Ttc23	A	G	7: 67,669,728	E112G	possibly damaging	Het
Ttn	T	C	2: 76,884,952		probably benign	Het
Ttn	T	A	2: 76,896,590		probably benign	Het
Ubr3	T	A	2: 70,020,625	C1796S	probably damaging	Het
Ugt2b34	C	T	5: 86,892,816	V416I	probably benign	Het
Uqcrb	A	G	13: 66,900,763		probably benign	Het
Vps26b	A	G	9: 27,010,464	L255P	probably benign	Het
Wdr59	A	G	8: 111,496,880	V154A	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
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
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
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
R8195:Cblc	UTSW	7	19785337	missense	possibly damaging	0.78
R8253:Cblc	UTSW	7	19786232	missense	probably damaging	1.00
X0028:Cblc	UTSW	7	19785273	missense	probably benign
Z1177:Cblc	UTSW	7	19785278	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GGTATGGTTACAGCTACGGATG -3'
(R):5'- TCAGAACTGAGACTGGCTCTTG -3'

Sequencing Primer
(F):5'- CTATGATAGGAAGAGGCTGTTCTCCC -3'
(R):5'- GACTCTCCCTACATCATGTG -3'

Posted On

2018-10-18