Incidental Mutation 'R2395:Cblc'
| ID |
248491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cblc
|
| Ensembl Gene |
ENSMUSG00000040525 |
| Gene Name |
Casitas B-lineage lymphoma c |
| Synonyms |
2310076I21Rik, Cbl3, 2310079L19Rik |
| MMRRC Submission |
040363-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2395 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19513643-19530734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 19519305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 341
(C341F)
|
| 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: C385F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039955
Gene: ENSMUSG00000040525
AA Change: C385F
| 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: C341F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104088
Gene: ENSMUSG00000040525
AA Change: C341F
| 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: ENSMUST00000145755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148416
|
| Meta Mutation Damage Score |
0.9710 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,959,614 (GRCm39) |
Y707H |
probably damaging |
Het |
| Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Acsl3 |
T |
C |
1: 78,683,085 (GRCm39) |
V661A |
probably benign |
Het |
| Atosb |
C |
A |
4: 43,035,964 (GRCm39) |
E256* |
probably null |
Het |
| B3glct |
A |
G |
5: 149,677,651 (GRCm39) |
T427A |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,454,110 (GRCm39) |
S299G |
probably benign |
Het |
| Dcp1b |
T |
C |
6: 119,192,025 (GRCm39) |
S314P |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,068,950 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,195,526 (GRCm39) |
T409A |
unknown |
Het |
| Hltf |
C |
T |
3: 20,146,906 (GRCm39) |
A555V |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,150 (GRCm39) |
I1987V |
probably benign |
Het |
| Map3k10 |
T |
C |
7: 27,373,418 (GRCm39) |
E11G |
unknown |
Het |
| Micu1 |
G |
T |
10: 59,699,024 (GRCm39) |
E434* |
probably null |
Het |
| Mlph |
A |
G |
1: 90,861,228 (GRCm39) |
T288A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,255,748 (GRCm39) |
E1679G |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,889,877 (GRCm39) |
N156S |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,529,741 (GRCm39) |
I52T |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,559,614 (GRCm39) |
H1130R |
possibly damaging |
Het |
| Or10al2 |
T |
G |
17: 37,983,587 (GRCm39) |
Y224* |
probably null |
Het |
| Or8k23 |
A |
G |
2: 86,186,609 (GRCm39) |
V39A |
probably benign |
Het |
| P2rx2 |
A |
G |
5: 110,489,527 (GRCm39) |
Y136H |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,936 (GRCm39) |
E622G |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,598,986 (GRCm39) |
V59A |
possibly damaging |
Het |
| Riox1 |
A |
T |
12: 83,997,418 (GRCm39) |
|
probably null |
Het |
| Rxrb |
T |
G |
17: 34,256,412 (GRCm39) |
C384W |
probably damaging |
Het |
| Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,026,435 (GRCm39) |
L373* |
probably null |
Het |
| Trpm2 |
A |
C |
10: 77,783,714 (GRCm39) |
I253S |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,679,237 (GRCm39) |
T4815I |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,975 (GRCm39) |
M779K |
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 |
|
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'- CCTCAGATCCTCAGAACAGTGG -3'
(R):5'- CCTGGATTCAGAGTATACCAGCC -3'
Sequencing Primer
(F):5'- AACAGTGGTTCCAGGTCCC -3'
(R):5'- TGGATTCAGAGTATACCAGCCACATC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation