Incidental Mutation 'IGL00472:Cbll1'
| ID |
332434 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cbll1
|
| Ensembl Gene |
ENSMUSG00000020659 |
| Gene Name |
Casitas B-lineage lymphoma-like 1 |
| Synonyms |
c-Cbl-like, Hakai |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
IGL00472
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31534828-31549615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31537832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 308
(P308S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064240]
[ENSMUST00000085487]
[ENSMUST00000101499]
[ENSMUST00000185739]
[ENSMUST00000188326]
|
| AlphaFold |
Q9JIY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064240
AA Change: P305S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063266
Gene: ENSMUSG00000020659
AA Change: P305S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
105 |
144 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
160 |
186 |
5.92e0 |
SMART |
|
low complexity region
|
203 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085487
AA Change: P308S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082616
Gene: ENSMUSG00000020659
AA Change: P308S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
109 |
148 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
164 |
190 |
5.92e0 |
SMART |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101499
AA Change: P308S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099038
Gene: ENSMUSG00000020659
AA Change: P308S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
109 |
148 |
5.3e-4 |
SMART |
|
ZnF_C2H2
|
164 |
190 |
2.5e-2 |
SMART |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
474 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185739
AA Change: P307S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141007
Gene: ENSMUSG00000020659
AA Change: P307S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
108 |
147 |
5.2e-4 |
SMART |
|
ZnF_C2H2
|
163 |
189 |
2.5e-2 |
SMART |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188326
|
| SMART Domains |
Protein: ENSMUSP00000139809
Gene: ENSMUSG00000020659
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
106 |
145 |
5.2e-4 |
SMART |
|
ZnF_C2H2
|
161 |
187 |
2.5e-2 |
SMART |
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
A |
G |
3: 37,490,793 (GRCm39) |
H446R |
probably benign |
Het |
| Alpk3 |
C |
T |
7: 80,745,401 (GRCm39) |
|
probably benign |
Het |
| Atp8b1 |
T |
A |
18: 64,697,501 (GRCm39) |
I448F |
probably benign |
Het |
| C2cd2l |
A |
G |
9: 44,228,400 (GRCm39) |
L156P |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,539,467 (GRCm39) |
S39N |
possibly damaging |
Het |
| Cnih4 |
G |
T |
1: 180,989,659 (GRCm39) |
G30C |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,268,049 (GRCm39) |
F479I |
possibly damaging |
Het |
| Gm572 |
T |
G |
4: 148,751,849 (GRCm39) |
V238G |
possibly damaging |
Het |
| Grhl1 |
G |
T |
12: 24,662,169 (GRCm39) |
R536L |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,004,520 (GRCm39) |
K269R |
probably benign |
Het |
| Nin |
C |
A |
12: 70,076,862 (GRCm39) |
M1064I |
probably damaging |
Het |
| Pnkd |
A |
G |
1: 74,325,081 (GRCm39) |
K50E |
probably damaging |
Het |
| Rpl39l |
A |
G |
16: 9,992,258 (GRCm39) |
M29V |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,931,213 (GRCm39) |
A388V |
probably benign |
Het |
| Tex21 |
A |
T |
12: 76,253,571 (GRCm39) |
N447K |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,942,457 (GRCm39) |
Y544C |
possibly damaging |
Het |
|
| Other mutations in Cbll1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Cbll1
|
APN |
12 |
31,537,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Cbll1
|
UTSW |
12 |
31,542,171 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0398:Cbll1
|
UTSW |
12 |
31,542,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0573:Cbll1
|
UTSW |
12 |
31,540,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1536:Cbll1
|
UTSW |
12 |
31,537,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Cbll1
|
UTSW |
12 |
31,537,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Cbll1
|
UTSW |
12 |
31,537,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6296:Cbll1
|
UTSW |
12 |
31,537,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6304:Cbll1
|
UTSW |
12 |
31,544,588 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6882:Cbll1
|
UTSW |
12 |
31,537,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Cbll1
|
UTSW |
12 |
31,537,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8235:Cbll1
|
UTSW |
12 |
31,541,570 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8963:Cbll1
|
UTSW |
12 |
31,538,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Cbll1
|
UTSW |
12 |
31,541,567 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9508:Cbll1
|
UTSW |
12 |
31,544,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Cbll1
|
UTSW |
12 |
31,538,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation