Mutagenetix > Incidental Mutation

Incidental Mutation 'R1626:Cblc'

172496

Institutional Source

Beutler Lab

Gene Symbol

Cblc

Ensembl Gene

ENSMUSG00000040525

Gene Name

Casitas B-lineage lymphoma c

Synonyms

2310076I21Rik, Cbl3, 2310079L19Rik

MMRRC Submission

039663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1626 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

19513643-19530734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19530427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 94 (A94E)

Ref Sequence

ENSEMBL: ENSMUSP00000039955 (fasta)

Gene Model

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

AlphaFold

Q80XL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000043822
AA Change: A94E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: A94E

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: A94E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: A94E

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: ENSMUST00000131276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,571 (GRCm39)	Y71H	possibly damaging	Het
Acsl6	C	A	11: 54,242,872 (GRCm39)	P628T	probably damaging	Het
Ak7	A	G	12: 105,734,807 (GRCm39)	D591G	probably benign	Het
Anxa5	T	C	3: 36,516,130 (GRCm39)	D66G	probably damaging	Het
Cacna1b	G	A	2: 24,496,721 (GRCm39)	T2283I	probably damaging	Het
Cand1	A	T	10: 119,045,919 (GRCm39)	D995E	possibly damaging	Het
Cd48	G	A	1: 171,509,687 (GRCm39)	C9Y	probably benign	Het
Chd9	A	G	8: 91,721,224 (GRCm39)	K1004R	probably benign	Het
Cilk1	A	G	9: 78,057,919 (GRCm39)	Y156C	probably damaging	Het
Cldn1	T	C	16: 26,190,202 (GRCm39)	T59A	probably damaging	Het
Col11a1	G	A	3: 113,925,218 (GRCm39)	G17D	probably damaging	Het
Cpeb1	A	G	7: 81,085,995 (GRCm39)	V49A	probably damaging	Het
Cyp4b1	G	T	4: 115,498,855 (GRCm39)	P109Q	probably damaging	Het
Dhrs7b	T	A	11: 60,735,082 (GRCm39)	F23I	possibly damaging	Het
Dnah9	C	A	11: 65,976,093 (GRCm39)	A1319S	probably benign	Het
Egf	A	T	3: 129,479,864 (GRCm39)	V553D	possibly damaging	Het
Fbn1	T	C	2: 125,183,199 (GRCm39)	D1760G	probably damaging	Het
Fbxo31	A	G	8: 122,286,745 (GRCm39)	F178L	probably damaging	Het
Fstl4	C	A	11: 52,891,117 (GRCm39)	S85*	probably null	Het
Gfm1	A	G	3: 67,345,977 (GRCm39)	Y225C	probably damaging	Het
Gm10797	A	T	10: 67,408,453 (GRCm39)		noncoding transcript	Het
H3c8	G	A	13: 23,719,721 (GRCm39)	V36M	probably damaging	Het
Heatr4	T	A	12: 84,020,495 (GRCm39)	I499L	probably benign	Het
Igfn1	A	T	1: 135,896,705 (GRCm39)	M1287K	probably benign	Het
Inpp5b	C	A	4: 124,677,696 (GRCm39)	D385E	probably damaging	Het
Lrrc9	A	G	12: 72,542,435 (GRCm39)		probably null	Het
Ltb4r1	A	G	14: 56,004,699 (GRCm39)	M1V	probably null	Het
Macf1	T	C	4: 123,365,327 (GRCm39)	I3145V	probably benign	Het
Man2a2	T	C	7: 80,017,450 (GRCm39)	N277S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mgat4e	A	G	1: 134,469,016 (GRCm39)	Y343H	probably benign	Het
Noxred1	T	C	12: 87,268,029 (GRCm39)	*367W	probably null	Het
Nup58	A	T	14: 60,480,076 (GRCm39)	L190*	probably null	Het
Olfml2a	G	T	2: 38,841,275 (GRCm39)	K270N	probably damaging	Het
Or5c1	A	G	2: 37,222,774 (GRCm39)		probably null	Het
Or7g32	A	G	9: 19,389,495 (GRCm39)	L14P	probably damaging	Het
Phgdh	G	T	3: 98,223,725 (GRCm39)	Q359K	probably benign	Het
Plpp5	G	T	8: 26,212,604 (GRCm39)	C200F	possibly damaging	Het
Pole	A	C	5: 110,441,235 (GRCm39)	I230L	probably benign	Het
Prtg	A	T	9: 72,752,193 (GRCm39)	D193V	probably damaging	Het
Ptgs2	G	A	1: 149,979,619 (GRCm39)		probably null	Het
Ptprz1	A	T	6: 23,001,573 (GRCm39)	Q1221L	probably benign	Het
Rufy2	T	C	10: 62,831,151 (GRCm39)	I204T	probably benign	Het
Rybp	A	G	6: 100,209,919 (GRCm39)	S115P	possibly damaging	Het
Samd13	A	G	3: 146,368,481 (GRCm39)	V37A	probably benign	Het
Secisbp2l	T	G	2: 125,617,606 (GRCm39)	K24Q	probably damaging	Het
Sorbs2	A	G	8: 46,222,891 (GRCm39)	Y198C	probably damaging	Het
Svil	T	G	18: 5,117,099 (GRCm39)		probably null	Het
Ttc24	G	T	3: 87,977,366 (GRCm39)	R127S	probably benign	Het
Ttn	C	T	2: 76,588,888 (GRCm39)	V21394M	probably damaging	Het
Tubal3	G	T	13: 3,982,841 (GRCm39)	C207F	probably damaging	Het
Vmn2r16	A	T	5: 109,511,443 (GRCm39)	D550V	probably damaging	Het
Vmn2r2	T	A	3: 64,041,921 (GRCm39)	I265F	possibly damaging	Het
Zfp507	T	C	7: 35,494,858 (GRCm39)	K62E	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
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
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'- CCCCAGGTTCAAGCTGATCTACAAAAG -3'
(R):5'- TGAAGTTGCTCCAGCGCCTAGAAG -3'

Sequencing Primer
(F):5'- TACTCCTGGGTCTGATGGAATAAAG -3'
(R):5'- GATCCCAGGATGGTCACG -3'

Posted On

2014-04-24