Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Cblc'

503332

Institutional Source

Beutler Lab

Gene Symbol

Cblc

Ensembl Gene

ENSMUSG00000040525

Gene Name

Casitas B-lineage lymphoma c

Synonyms

2310076I21Rik, Cbl3, 2310079L19Rik

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19513643-19530734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19519230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 366 (V366D)

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: V410D

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: V410D

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

possibly damaging
Transcript: ENSMUST00000108449
AA Change: V366D

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: V366D

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: ENSMUST00000145755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148416

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677 (GRCm39)	K528R	probably benign	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Jph1	C	A	1: 17,167,810 (GRCm39)	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matk	T	G	10: 81,095,422 (GRCm39)	W81G	probably damaging	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Mtr	A	G	13: 12,205,278 (GRCm39)	S1061P	probably benign	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
P4ha3	G	T	7: 99,966,292 (GRCm39)	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,453,610 (GRCm39)	K1013*	probably null	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068 (GRCm39)	T671I	probably damaging	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	probably 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
R1719:Cblc	UTSW	7	19,524,399 (GRCm39)	missense	probably benign	0.00
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
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'- CCAGATGTATTGAGTCTAGCCTCC -3'
(R):5'- CCTGGATTCAGAGTATACCAGCC -3'

Sequencing Primer
(F):5'- CTCCCTCAGATCCAGGACTTCAG -3'
(R):5'- TGGATTCAGAGTATACCAGCCACATC -3'

Posted On

2018-02-27