Incidental Mutation 'R6708:Cep55'
| ID |
529030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep55
|
| Ensembl Gene |
ENSMUSG00000024989 |
| Gene Name |
centrosomal protein 55 |
| Synonyms |
1200008O12Rik, 2700032M20Rik |
| MMRRC Submission |
044826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R6708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
38043459-38062871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38048709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 122
(S122T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096096]
[ENSMUST00000116506]
[ENSMUST00000169673]
|
| AlphaFold |
Q8BT07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096096
AA Change: S122T
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000093802
Gene: ENSMUSG00000024989
AA Change: S122T
| 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: S122T
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112205
Gene: ENSMUSG00000024989
AA Change: S122T
| 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: S122T
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127961
Gene: ENSMUSG00000024989
AA Change: S122T
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
C |
8: 41,249,531 (GRCm39) |
L547P |
probably damaging |
Het |
| Atp8b5 |
T |
G |
4: 43,334,249 (GRCm39) |
H338Q |
probably benign |
Het |
| Btbd3 |
A |
G |
2: 138,125,491 (GRCm39) |
E225G |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,286,167 (GRCm39) |
H239R |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,294 (GRCm39) |
I409T |
probably benign |
Het |
| Col5a3 |
G |
A |
9: 20,686,331 (GRCm39) |
P1382L |
unknown |
Het |
| Ehmt2 |
A |
T |
17: 35,118,875 (GRCm39) |
K186* |
probably null |
Het |
| Elavl2 |
A |
T |
4: 91,141,634 (GRCm39) |
I295N |
probably damaging |
Het |
| Elf5 |
A |
G |
2: 103,279,334 (GRCm39) |
D185G |
probably damaging |
Het |
| Emx1 |
A |
G |
6: 85,171,122 (GRCm39) |
E175G |
probably damaging |
Het |
| Fan1 |
T |
G |
7: 64,022,554 (GRCm39) |
N233T |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,492,922 (GRCm39) |
I1865F |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,427,739 (GRCm39) |
D352G |
probably benign |
Het |
| Klhdc1 |
A |
T |
12: 69,306,304 (GRCm39) |
H247L |
possibly damaging |
Het |
| L3mbtl4 |
A |
T |
17: 68,937,253 (GRCm39) |
T425S |
probably benign |
Het |
| Mrpl21 |
T |
C |
19: 3,336,890 (GRCm39) |
V87A |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,014,103 (GRCm39) |
M1K |
probably null |
Het |
| Or5ac21 |
T |
A |
16: 59,124,416 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,827,505 (GRCm39) |
H29Q |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,587,692 (GRCm39) |
|
probably null |
Het |
| Pogk |
A |
G |
1: 166,231,078 (GRCm39) |
V83A |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,382,994 (GRCm39) |
E1556G |
possibly damaging |
Het |
| Tmem109 |
C |
A |
19: 10,849,395 (GRCm39) |
L153F |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,909,791 (GRCm39) |
T74A |
probably damaging |
Het |
| Zfp180 |
A |
T |
7: 23,805,521 (GRCm39) |
T647S |
probably 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 |
|
R5246:Cep55
|
UTSW |
19 |
38,058,119 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5628:Cep55
|
UTSW |
19 |
38,058,396 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Cep55
|
UTSW |
19 |
38,051,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CAAGTTCTTGAAGCCGAGAGAG -3'
(R):5'- AGGTAAGTGATCTGCAGGTGC -3'
Sequencing Primer
(F):5'- AGAAAAGAATGTTTATTACCTCCTGG -3'
(R):5'- GTGCACTAACTAAGGTGTTGCATC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation