Mutagenetix > Incidental Mutation

Incidental Mutation 'R6519:Cblc'

520995

Institutional Source

Beutler Lab

Gene Symbol

Cblc

Ensembl Gene

ENSMUSG00000040525

Gene Name

Casitas B-lineage lymphoma c

Synonyms

2310076I21Rik, Cbl3, 2310079L19Rik

MMRRC Submission

044646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6519 (G1)

Quality Score

93.0077

Status

Validated

Chromosome

Chromosomal Location

19513643-19530734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19526788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 148 (Y148C)

Ref Sequence

ENSEMBL: ENSMUSP00000104088 (fasta)

Gene Model

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

AlphaFold

Q80XL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000043822
AA Change: Y148C

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

SMART Domains

Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: Y148C

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: Y148C

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

SMART Domains

Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: Y148C

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

Meta Mutation Damage Score

0.4373

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.7%

Validation Efficiency

97% (58/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,723 (GRCm39)	I53T	probably damaging	Het
Adgrv1	C	T	13: 81,715,462 (GRCm39)	D909N	probably benign	Het
Ahdc1	T	C	4: 132,792,079 (GRCm39)	Y1107H	possibly damaging	Het
Aldob	A	T	4: 49,543,835 (GRCm39)	V49E	probably damaging	Het
Apol6	T	A	15: 76,935,476 (GRCm39)	Y248*	probably null	Het
Apol7b	T	A	15: 77,307,548 (GRCm39)	T316S	probably benign	Het
Atp13a2	G	C	4: 140,728,165 (GRCm39)	R503P	possibly damaging	Het
Brca2	A	C	5: 150,464,444 (GRCm39)	T1403P	probably damaging	Het
Cct7	C	A	6: 85,439,132 (GRCm39)	Q149K	probably benign	Het
Cd53	T	A	3: 106,669,461 (GRCm39)	H179L	probably benign	Het
Cyp2b19	A	G	7: 26,458,536 (GRCm39)	T84A	probably benign	Het
Cyp3a41a	A	G	5: 145,652,308 (GRCm39)	C64R	probably damaging	Het
Dclre1c	T	C	2: 3,430,366 (GRCm39)	Y75H	probably damaging	Het
Dhx35	A	T	2: 158,673,630 (GRCm39)	I354F	probably damaging	Het
Diaph3	T	C	14: 87,203,771 (GRCm39)	N629S	probably damaging	Het
Dnase1	A	T	16: 3,856,453 (GRCm39)	S132C	probably damaging	Het
Dnttip2	T	C	3: 122,069,120 (GRCm39)	S112P	probably benign	Het
Eif4g3	C	A	4: 137,721,319 (GRCm39)	P48T	probably benign	Het
Fat4	A	T	3: 39,057,020 (GRCm39)	T4239S	probably benign	Het
Fbn2	A	G	18: 58,196,647 (GRCm39)	V1419A	possibly damaging	Het
Ghitm	A	C	14: 36,847,204 (GRCm39)	M290R	probably damaging	Het
Glb1l	T	C	1: 75,177,700 (GRCm39)	D406G	probably benign	Het
Glipr1l1	C	A	10: 111,898,153 (GRCm39)	A86D	probably benign	Het
Golm2	T	C	2: 121,737,218 (GRCm39)	V141A	probably benign	Het
Grm7	C	T	6: 111,184,713 (GRCm39)	A348V	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hdac2	T	A	10: 36,865,252 (GRCm39)	N155K	probably damaging	Het
Hus1b	A	G	13: 31,130,930 (GRCm39)	I243T	probably benign	Het
Kcnab2	T	C	4: 152,496,450 (GRCm39)	T65A	probably damaging	Het
Lasp1	T	A	11: 97,706,383 (GRCm39)		probably null	Het
Lrch3	G	A	16: 32,815,367 (GRCm39)		probably benign	Het
Ltb4r2	C	T	14: 56,000,438 (GRCm39)	T353M	probably benign	Het
Macf1	A	G	4: 123,366,118 (GRCm39)	M1316T	probably benign	Het
Msr1	G	A	8: 40,077,262 (GRCm39)	T116I	probably benign	Het
Nlrp5	A	G	7: 23,117,343 (GRCm39)	I356V	probably benign	Het
Npy	C	T	6: 49,800,669 (GRCm39)	S31F	possibly damaging	Het
Nsd3	C	T	8: 26,152,955 (GRCm39)	P432S	probably damaging	Het
Nup160	A	C	2: 90,548,561 (GRCm39)	R1037S	probably damaging	Het
Or12j4	T	A	7: 140,046,458 (GRCm39)	S115T	probably benign	Het
Or4b1d	A	T	2: 89,969,156 (GRCm39)	I109N	possibly damaging	Het
Or8s5	C	T	15: 98,237,929 (GRCm39)	G314R	probably benign	Het
Pcx	A	G	19: 4,652,239 (GRCm39)	E108G	possibly damaging	Het
Pecam1	A	T	11: 106,590,468 (GRCm39)	M102K	probably benign	Het
Pgd	G	T	4: 149,235,343 (GRCm39)	Y433*	probably null	Het
Pkd1l3	A	G	8: 110,355,404 (GRCm39)	E744G	probably benign	Het
Rb1	A	G	14: 73,535,503 (GRCm39)	I118T	probably benign	Het
Rdh11	T	A	12: 79,229,589 (GRCm39)	H228L	probably damaging	Het
Rnf44	C	T	13: 54,829,599 (GRCm39)	R340Q	probably damaging	Het
Rtraf	A	G	14: 19,869,998 (GRCm39)	V88A	possibly damaging	Het
Sigmar1	T	C	4: 41,739,380 (GRCm39)	T185A	possibly damaging	Het
Thsd1	A	G	8: 22,749,081 (GRCm39)	R590G	probably damaging	Het
Trappc14	A	G	5: 138,260,110 (GRCm39)	S344P	probably damaging	Het
Trbv19	T	C	6: 41,155,573 (GRCm39)		probably benign	Het
Txnrd3	T	C	6: 89,631,405 (GRCm39)		probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xpnpep1	T	C	19: 53,000,275 (GRCm39)	N192D	possibly damaging	Het
Zfp955b	T	A	17: 33,521,051 (GRCm39)	S173R	possibly damaging	Het
Zranb1	T	A	7: 132,551,857 (GRCm39)	C195*	probably null	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
R6209:Cblc	UTSW	7	19,519,230 (GRCm39)	missense	possibly damaging	0.47
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'- AGGTGGTATGGTTACAGCTACG -3'
(R):5'- ACTGAGACTGGCTCTTGGTAC -3'

Sequencing Primer
(F):5'- ATGGTTACAGCTACGGATGG -3'
(R):5'- CTCATCTTCAGTCACATGC -3'

Posted On

2018-06-06