Incidental Mutation 'IGL02198:Cep78'
| ID |
284132 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep78
|
| Ensembl Gene |
ENSMUSG00000041491 |
| Gene Name |
centrosomal protein 78 |
| Synonyms |
5730599I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.766)
|
| Stock # |
IGL02198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
15933137-15962353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15933733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 615
(L615S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047704]
|
| AlphaFold |
Q6IRU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047704
AA Change: L615S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: L615S
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
152 |
179 |
2.95e-3 |
SMART |
|
Blast:LRR
|
180 |
207 |
1e-10 |
BLAST |
|
LRR
|
231 |
259 |
6.28e-1 |
SMART |
|
LRR
|
260 |
287 |
8.81e-2 |
SMART |
|
LRR
|
288 |
313 |
1.96e2 |
SMART |
|
low complexity region
|
427 |
450 |
N/A |
INTRINSIC |
|
coiled coil region
|
462 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
A |
G |
2: 131,388,412 (GRCm39) |
I381T |
probably damaging |
Het |
| Armt1 |
T |
A |
10: 4,404,064 (GRCm39) |
F383Y |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,932,445 (GRCm39) |
V486A |
probably benign |
Het |
| Clec2h |
C |
A |
6: 128,650,979 (GRCm39) |
C86* |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 116,508,262 (GRCm39) |
T1258I |
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,628 (GRCm39) |
M262K |
possibly damaging |
Het |
| Dmpk |
C |
A |
7: 18,822,117 (GRCm39) |
F332L |
probably damaging |
Het |
| Dnaaf4 |
G |
A |
9: 72,876,348 (GRCm39) |
V308I |
probably benign |
Het |
| Fap |
A |
G |
2: 62,385,142 (GRCm39) |
F73L |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,233,399 (GRCm39) |
I1778N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,797,655 (GRCm39) |
T71A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,224,725 (GRCm39) |
A1389S |
probably damaging |
Het |
| Mob3b |
T |
C |
4: 35,083,983 (GRCm39) |
N69D |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,023,070 (GRCm39) |
W21R |
probably damaging |
Het |
| Or4f56 |
A |
T |
2: 111,703,593 (GRCm39) |
N202K |
probably damaging |
Het |
| Ovca2 |
A |
G |
11: 75,069,596 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,394,041 (GRCm39) |
K137N |
probably damaging |
Het |
| Pabpc1l |
A |
G |
2: 163,869,536 (GRCm39) |
N112S |
probably damaging |
Het |
| Plekho1 |
T |
A |
3: 95,899,496 (GRCm39) |
N99I |
probably damaging |
Het |
| Recql5 |
A |
C |
11: 115,785,499 (GRCm39) |
S666A |
probably benign |
Het |
| Scn3a |
G |
T |
2: 65,338,833 (GRCm39) |
H615Q |
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,297,141 (GRCm39) |
|
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,590,258 (GRCm39) |
S328T |
probably damaging |
Het |
| Taok1 |
T |
C |
11: 77,466,503 (GRCm39) |
|
probably benign |
Het |
| Tsnax |
T |
A |
8: 125,759,451 (GRCm39) |
Y237* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,544,974 (GRCm39) |
K24382N |
probably damaging |
Het |
| Ugt1a9 |
T |
A |
1: 87,999,165 (GRCm39) |
V205E |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,569,145 (GRCm39) |
D933E |
possibly damaging |
Het |
| Vnn1 |
A |
T |
10: 23,779,323 (GRCm39) |
T411S |
probably benign |
Het |
| Wdr27 |
C |
A |
17: 15,128,860 (GRCm39) |
G531V |
possibly damaging |
Het |
| Zfp760 |
G |
T |
17: 21,941,193 (GRCm39) |
V123L |
probably benign |
Het |
|
| Other mutations in Cep78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Cep78
|
APN |
19 |
15,946,504 (GRCm39) |
missense |
probably benign |
|
|
IGL00920:Cep78
|
APN |
19 |
15,958,850 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01548:Cep78
|
APN |
19 |
15,958,564 (GRCm39) |
splice site |
probably benign |
|
|
IGL01662:Cep78
|
APN |
19 |
15,938,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Cep78
|
APN |
19 |
15,933,304 (GRCm39) |
missense |
probably benign |
|
|
IGL02014:Cep78
|
APN |
19 |
15,962,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Cep78
|
APN |
19 |
15,951,779 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02431:Cep78
|
APN |
19 |
15,936,943 (GRCm39) |
missense |
probably benign |
|
|
IGL02731:Cep78
|
APN |
19 |
15,933,670 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03268:Cep78
|
APN |
19 |
15,951,806 (GRCm39) |
nonsense |
probably null |
|
|
IGL03338:Cep78
|
APN |
19 |
15,936,987 (GRCm39) |
missense |
probably damaging |
0.97 |
|
himalayas
|
UTSW |
19 |
15,946,492 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0426:Cep78
|
UTSW |
19 |
15,948,334 (GRCm39) |
nonsense |
probably null |
|
|
R0619:Cep78
|
UTSW |
19 |
15,956,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0659:Cep78
|
UTSW |
19 |
15,933,554 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1517:Cep78
|
UTSW |
19 |
15,937,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Cep78
|
UTSW |
19 |
15,936,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Cep78
|
UTSW |
19 |
15,946,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Cep78
|
UTSW |
19 |
15,933,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Cep78
|
UTSW |
19 |
15,951,715 (GRCm39) |
splice site |
probably benign |
|
|
R2483:Cep78
|
UTSW |
19 |
15,938,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2958:Cep78
|
UTSW |
19 |
15,956,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3814:Cep78
|
UTSW |
19 |
15,959,166 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4133:Cep78
|
UTSW |
19 |
15,946,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Cep78
|
UTSW |
19 |
15,936,943 (GRCm39) |
missense |
probably benign |
|
|
R5783:Cep78
|
UTSW |
19 |
15,933,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5791:Cep78
|
UTSW |
19 |
15,938,436 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5910:Cep78
|
UTSW |
19 |
15,946,492 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5924:Cep78
|
UTSW |
19 |
15,938,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Cep78
|
UTSW |
19 |
15,959,150 (GRCm39) |
nonsense |
probably null |
|
|
R6162:Cep78
|
UTSW |
19 |
15,952,304 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6235:Cep78
|
UTSW |
19 |
15,953,850 (GRCm39) |
splice site |
probably null |
|
|
R6968:Cep78
|
UTSW |
19 |
15,959,102 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7228:Cep78
|
UTSW |
19 |
15,946,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7913:Cep78
|
UTSW |
19 |
15,947,941 (GRCm39) |
missense |
probably benign |
|
|
R7914:Cep78
|
UTSW |
19 |
15,953,672 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7934:Cep78
|
UTSW |
19 |
15,933,754 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8059:Cep78
|
UTSW |
19 |
15,958,876 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8146:Cep78
|
UTSW |
19 |
15,933,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8532:Cep78
|
UTSW |
19 |
15,936,948 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9039:Cep78
|
UTSW |
19 |
15,936,907 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9062:Cep78
|
UTSW |
19 |
15,956,318 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9264:Cep78
|
UTSW |
19 |
15,951,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation