Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Cblc'

191280

Institutional Source

Beutler Lab

Gene Symbol

Cblc

Ensembl Gene

ENSMUSG00000040525

Gene Name

Casitas B-lineage lymphoma c

Synonyms

2310076I21Rik, Cbl3, 2310079L19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1719 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

19513643-19530734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19524399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 280 (D280E)

Ref Sequence

ENSEMBL: ENSMUSP00000104088 (fasta)

Gene Model

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

AlphaFold

Q80XL1

Predicted Effect

probably benign
Transcript: ENSMUST00000043822
AA Change: D280E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: D280E

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: D280E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: D280E

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,904,526 (GRCm39)	K263M	probably damaging	Het
Adam26a	G	A	8: 44,023,073 (GRCm39)	T139M	possibly damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap9	C	T	5: 4,007,645 (GRCm39)	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774 (GRCm39)	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,215,430 (GRCm39)	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,732,854 (GRCm39)		probably benign	Het
Cela2a	G	T	4: 141,545,257 (GRCm39)	F239L	probably damaging	Het
Cfap57	A	T	4: 118,463,828 (GRCm39)	C342S	probably benign	Het
Clca4a	C	A	3: 144,669,516 (GRCm39)	W345L	probably damaging	Het
Col6a5	T	C	9: 105,808,492 (GRCm39)	D852G	unknown	Het
Cyp4a32	T	C	4: 115,468,505 (GRCm39)	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,003,062 (GRCm39)	P287S	probably damaging	Het
Dmxl1	T	A	18: 50,067,704 (GRCm39)	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,927,486 (GRCm39)	I347F	possibly damaging	Het
Dtnb	T	A	12: 3,693,936 (GRCm39)	Y56*	probably null	Het
Duox1	T	C	2: 122,169,125 (GRCm39)	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 183,769,422 (GRCm39)	S129R	probably benign	Het
Dync2i1	T	C	12: 116,219,532 (GRCm39)	I137V	probably benign	Het
Epcam	G	A	17: 87,949,556 (GRCm39)	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,039,400 (GRCm39)	E384G	probably damaging	Het
Exosc10	A	T	4: 148,652,960 (GRCm39)	D525V	probably damaging	Het
Fam186a	T	A	15: 99,840,227 (GRCm39)	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 108,977,242 (GRCm39)	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,364,704 (GRCm39)	E568G	probably damaging	Het
Fmn2	C	T	1: 174,436,024 (GRCm39)		probably benign	Het
Fut9	A	G	4: 25,619,744 (GRCm39)	F357L	possibly damaging	Het
Garre1	A	T	7: 33,947,631 (GRCm39)	M459K	probably damaging	Het
Gas2l1	G	A	11: 5,014,266 (GRCm39)	H65Y	probably damaging	Het
Gjd2	A	T	2: 113,843,614 (GRCm39)	M1K	probably null	Het
Hdgfl3	T	C	7: 81,549,432 (GRCm39)	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,244,733 (GRCm39)	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,437,880 (GRCm39)	S223C	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Knl1	T	A	2: 118,902,219 (GRCm39)	W1307R	probably benign	Het
Kpna3	A	G	14: 61,624,926 (GRCm39)	L139P	probably damaging	Het
Lama3	T	C	18: 12,612,929 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,633,108 (GRCm39)	P192L	possibly damaging	Het
Lpo	T	A	11: 87,700,018 (GRCm39)		probably null	Het
Lrrc37	T	A	11: 103,507,897 (GRCm39)		probably benign	Het
Lrrd1	T	G	5: 3,900,483 (GRCm39)		probably null	Het
Nbas	T	A	12: 13,610,978 (GRCm39)		probably null	Het
Nemp1	G	A	10: 127,532,117 (GRCm39)	G341D	probably damaging	Het
Nrp1	T	C	8: 129,152,366 (GRCm39)	F192L	probably damaging	Het
Nufip2	T	A	11: 77,583,916 (GRCm39)	V610E	probably damaging	Het
Nup160	T	G	2: 90,530,780 (GRCm39)	Y479*	probably null	Het
Oas1d	A	T	5: 121,058,025 (GRCm39)	D323V	possibly damaging	Het
Or10ak14	A	G	4: 118,610,797 (GRCm39)	W315R	possibly damaging	Het
Or14j1	A	G	17: 38,146,244 (GRCm39)	D118G	possibly damaging	Het
Or4c3d	T	C	2: 89,882,128 (GRCm39)	Y180C	probably damaging	Het
Or52e4	C	A	7: 104,706,001 (GRCm39)	H183N	probably damaging	Het
Or5ac22	T	A	16: 59,135,069 (GRCm39)	R234*	probably null	Het
Or8b3	G	A	9: 38,314,550 (GRCm39)	V127M	possibly damaging	Het
Or8c9	A	T	9: 38,241,803 (GRCm39)	T307S	probably benign	Het
Pcm1	T	A	8: 41,766,396 (GRCm39)	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,279,730 (GRCm39)	V215A	probably benign	Het
Phf12	T	A	11: 77,914,427 (GRCm39)	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,595,663 (GRCm39)	E537G	probably null	Het
Plxna2	C	T	1: 194,326,678 (GRCm39)	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,574,131 (GRCm39)	M236L	probably benign	Het
Qrsl1	A	T	10: 43,772,026 (GRCm39)	S55T	probably damaging	Het
Rbm5	T	C	9: 107,621,112 (GRCm39)		probably null	Het
Sipa1l2	A	G	8: 126,171,274 (GRCm39)	S1403P	probably damaging	Het
Sis	C	T	3: 72,872,937 (GRCm39)	C67Y	probably damaging	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Sprtn	C	A	8: 125,628,372 (GRCm39)	H154Q	probably damaging	Het
St7l	A	G	3: 104,778,303 (GRCm39)	T147A	probably benign	Het
Stab1	G	A	14: 30,867,985 (GRCm39)	Q1630*	probably null	Het
Stpg2	A	G	3: 138,937,960 (GRCm39)	D173G	probably benign	Het
Tcf20	G	A	15: 82,736,978 (GRCm39)	T1491I	probably benign	Het
Themis2	A	T	4: 132,516,960 (GRCm39)	I180N	possibly damaging	Het
Timd5	T	C	11: 46,417,121 (GRCm39)	L13P	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Ttn	A	G	2: 76,638,340 (GRCm39)	V13980A	probably damaging	Het
Ttn	C	T	2: 76,575,978 (GRCm39)	V24972M	probably damaging	Het
Usp5	A	T	6: 124,800,423 (GRCm39)	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,614,802 (GRCm39)	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,270,435 (GRCm39)	C534G	probably damaging	Het
Wnk2	C	T	13: 49,214,202 (GRCm39)	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,681,707 (GRCm39)	P745S	probably damaging	Het
Zfp957	C	T	14: 79,451,436 (GRCm39)	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,135,254 (GRCm39)	E220G	possibly damaging	Het

Other mutations in Cblc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01510:Cblc	APN	7	19,519,200 (GRCm39)	missense	probably benign	0.00
R0583:Cblc	UTSW	7	19,526,486 (GRCm39)	missense	probably benign	0.41
R0847:Cblc	UTSW	7	19,524,459 (GRCm39)	nonsense	probably null
R1594:Cblc	UTSW	7	19,526,471 (GRCm39)	missense	probably damaging	1.00
R1626:Cblc	UTSW	7	19,530,427 (GRCm39)	missense	probably damaging	1.00
R1894:Cblc	UTSW	7	19,526,502 (GRCm39)	missense	probably damaging	0.99
R2011:Cblc	UTSW	7	19,518,747 (GRCm39)	missense	probably benign	0.01
R2395:Cblc	UTSW	7	19,519,305 (GRCm39)	missense	probably damaging	1.00
R2852:Cblc	UTSW	7	19,514,889 (GRCm39)	splice site	probably null
R3832:Cblc	UTSW	7	19,526,097 (GRCm39)	missense	probably damaging	0.98
R4696:Cblc	UTSW	7	19,530,407 (GRCm39)	missense	probably damaging	1.00
R5159:Cblc	UTSW	7	19,519,233 (GRCm39)	missense	probably benign	0.01
R5328:Cblc	UTSW	7	19,526,505 (GRCm39)	missense	possibly damaging	0.68
R5487:Cblc	UTSW	7	19,518,733 (GRCm39)	missense	probably benign	0.06
R5659:Cblc	UTSW	7	19,526,857 (GRCm39)	missense	probably damaging	1.00
R6209:Cblc	UTSW	7	19,519,230 (GRCm39)	missense	possibly damaging	0.47
R6519:Cblc	UTSW	7	19,526,788 (GRCm39)	missense	probably damaging	1.00
R6841:Cblc	UTSW	7	19,526,821 (GRCm39)	missense	probably damaging	1.00
R7371:Cblc	UTSW	7	19,526,828 (GRCm39)	missense	probably benign	0.00
R7417:Cblc	UTSW	7	19,522,899 (GRCm39)	missense	probably benign	0.41
R7494:Cblc	UTSW	7	19,526,737 (GRCm39)	missense	possibly damaging	0.76
R8195:Cblc	UTSW	7	19,519,262 (GRCm39)	missense	possibly damaging	0.78
R8253:Cblc	UTSW	7	19,520,157 (GRCm39)	missense	probably damaging	1.00
X0028:Cblc	UTSW	7	19,519,198 (GRCm39)	missense	probably benign
Z1177:Cblc	UTSW	7	19,519,203 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GGGATTTTGCACTTTGCAGCCG -3'
(R):5'- CAAGGCCCCTCTTCCATAAAGGATG -3'

Sequencing Primer
(F):5'- ATTCCCCCGCCTTGAGAAC -3'
(R):5'- TCCATAAAGGATGAGGAAGGAGATAC -3'

Posted On

2014-05-14