Incidental Mutation 'R5246:Cep55'
| ID |
401167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep55
|
| Ensembl Gene |
ENSMUSG00000024989 |
| Gene Name |
centrosomal protein 55 |
| Synonyms |
1200008O12Rik, 2700032M20Rik |
| MMRRC Submission |
042817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R5246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
38043459-38062871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38058119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 237
(D237E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096096]
[ENSMUST00000116506]
[ENSMUST00000169673]
|
| AlphaFold |
Q8BT07 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096096
AA Change: D237E
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000093802
Gene: ENSMUSG00000024989
AA Change: D237E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
150 |
N/A |
INTRINSIC |
|
Pfam:EABR
|
171 |
205 |
1.2e-22 |
PFAM |
|
coiled coil region
|
229 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116506
AA Change: D237E
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112205
Gene: ENSMUSG00000024989
AA Change: D237E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
150 |
N/A |
INTRINSIC |
|
Pfam:EABR
|
171 |
205 |
1.2e-22 |
PFAM |
|
coiled coil region
|
229 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169673
AA Change: D237E
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127961
Gene: ENSMUSG00000024989
AA Change: D237E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
150 |
N/A |
INTRINSIC |
|
Pfam:EABR
|
171 |
204 |
8.6e-22 |
PFAM |
|
coiled coil region
|
229 |
395 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
A |
11: 29,525,434 (GRCm39) |
S503T |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
| Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,874 (GRCm39) |
I50L |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
| Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
| Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,005,809 (GRCm39) |
W164R |
probably damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
| Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,936,646 (GRCm39) |
E435G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Septin7 |
T |
A |
9: 25,210,832 (GRCm39) |
L289M |
probably damaging |
Het |
| Spry1 |
A |
G |
3: 37,696,916 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tmcc1 |
A |
G |
6: 116,020,381 (GRCm39) |
V142A |
probably damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
| Wdr25 |
A |
G |
12: 108,993,382 (GRCm39) |
I533V |
probably benign |
Het |
| Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
possibly damaging |
Het |
|
| Other mutations in Cep55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Cep55
|
APN |
19 |
38,061,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02359:Cep55
|
APN |
19 |
38,058,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0079:Cep55
|
UTSW |
19 |
38,048,769 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0308:Cep55
|
UTSW |
19 |
38,048,659 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0377:Cep55
|
UTSW |
19 |
38,060,337 (GRCm39) |
nonsense |
probably null |
|
|
R0725:Cep55
|
UTSW |
19 |
38,048,622 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0736:Cep55
|
UTSW |
19 |
38,061,765 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1842:Cep55
|
UTSW |
19 |
38,046,348 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2196:Cep55
|
UTSW |
19 |
38,057,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2227:Cep55
|
UTSW |
19 |
38,051,082 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3832:Cep55
|
UTSW |
19 |
38,041,560 (GRCm39) |
unclassified |
probably benign |
|
|
R4936:Cep55
|
UTSW |
19 |
38,060,202 (GRCm39) |
splice site |
probably null |
|
|
R4938:Cep55
|
UTSW |
19 |
38,058,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:Cep55
|
UTSW |
19 |
38,058,396 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Cep55
|
UTSW |
19 |
38,051,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Cep55
|
UTSW |
19 |
38,048,709 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6787:Cep55
|
UTSW |
19 |
38,046,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7047:Cep55
|
UTSW |
19 |
38,048,539 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7187:Cep55
|
UTSW |
19 |
38,048,806 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7473:Cep55
|
UTSW |
19 |
38,058,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7762:Cep55
|
UTSW |
19 |
38,057,517 (GRCm39) |
splice site |
probably null |
|
|
R7863:Cep55
|
UTSW |
19 |
38,046,247 (GRCm39) |
start gained |
probably benign |
|
|
R9030:Cep55
|
UTSW |
19 |
38,059,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9555:Cep55
|
UTSW |
19 |
38,059,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0023:Cep55
|
UTSW |
19 |
38,060,315 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGCTCATTCCCTCCAGAG -3'
(R):5'- GAAGATACTGCTCTCTTCCCTCAG -3'
Sequencing Primer
(F):5'- TCCAGAGCTGACCTGGGTAC -3'
(R):5'- GCTTGTCCTCCTCCAGGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation