Incidental Mutation 'IGL03268:Cep78'
| ID |
415137 |
| 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 # |
IGL03268
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
15933137-15962353 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 15951806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 333
(S333*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047704]
|
| AlphaFold |
Q6IRU7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047704
AA Change: S333*
|
| SMART Domains |
Protein: ENSMUSP00000037596
Gene: ENSMUSG00000041491
AA Change: S333*
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,648 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
A |
T |
15: 101,033,803 (GRCm39) |
I162F |
possibly damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,296,170 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,567,669 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,930,296 (GRCm39) |
L227P |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,504,828 (GRCm39) |
I245V |
probably benign |
Het |
| Arf1 |
A |
T |
11: 59,103,663 (GRCm39) |
V123E |
possibly damaging |
Het |
| Catsperg1 |
G |
A |
7: 28,899,668 (GRCm39) |
R338C |
probably damaging |
Het |
| Cc2d1a |
A |
C |
8: 84,860,154 (GRCm39) |
L855R |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,366,953 (GRCm39) |
A220T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,295 (GRCm39) |
H203R |
probably benign |
Het |
| Chrna2 |
T |
A |
14: 66,388,395 (GRCm39) |
|
probably benign |
Het |
| Dact1 |
T |
C |
12: 71,364,257 (GRCm39) |
V346A |
probably damaging |
Het |
| Dcn |
A |
G |
10: 97,319,240 (GRCm39) |
I6V |
probably benign |
Het |
| Dlg3 |
A |
G |
X: 99,853,493 (GRCm39) |
Y600C |
probably damaging |
Het |
| Dmd |
A |
G |
X: 82,849,814 (GRCm39) |
E1084G |
probably damaging |
Het |
| Epb41 |
A |
C |
4: 131,655,806 (GRCm39) |
D825E |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,188,852 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,648,261 (GRCm39) |
D675V |
probably damaging |
Het |
| Igkv2-137 |
A |
G |
6: 67,533,092 (GRCm39) |
D85G |
probably benign |
Het |
| Kxd1 |
A |
G |
8: 70,961,136 (GRCm39) |
I78T |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,298,649 (GRCm39) |
I149N |
probably damaging |
Het |
| Mbnl2 |
G |
T |
14: 120,616,569 (GRCm39) |
C61F |
probably damaging |
Het |
| Mcts1 |
T |
C |
X: 37,690,859 (GRCm39) |
I22T |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,024 (GRCm39) |
T279A |
probably damaging |
Het |
| Or52e3 |
T |
G |
7: 102,869,848 (GRCm39) |
F308V |
probably benign |
Het |
| Pde12 |
T |
A |
14: 26,389,614 (GRCm39) |
E365V |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,537,938 (GRCm39) |
K204R |
probably benign |
Het |
| Rnf25 |
A |
T |
1: 74,638,217 (GRCm39) |
|
probably benign |
Het |
| Rragb |
A |
G |
X: 151,923,493 (GRCm39) |
D5G |
unknown |
Het |
| Rsrc2 |
T |
A |
5: 123,878,790 (GRCm39) |
K56* |
probably null |
Het |
| Scn5a |
T |
C |
9: 119,350,297 (GRCm39) |
Q859R |
probably damaging |
Het |
| Septin4 |
G |
A |
11: 87,480,529 (GRCm39) |
V388M |
probably damaging |
Het |
| Slc29a2 |
C |
T |
19: 5,074,531 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
G |
A |
13: 100,943,211 (GRCm39) |
T549I |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,554 (GRCm39) |
T462A |
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,786,450 (GRCm39) |
E61G |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,803,943 (GRCm39) |
Y5H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,573 (GRCm39) |
D301G |
probably damaging |
Het |
| Syt14 |
A |
G |
1: 192,669,142 (GRCm39) |
V37A |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,612 (GRCm39) |
N210D |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,688,558 (GRCm39) |
D2343G |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 108,907,450 (GRCm39) |
|
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,497,020 (GRCm39) |
D175G |
probably damaging |
Het |
| Tpo |
G |
T |
12: 30,144,964 (GRCm39) |
A595D |
possibly damaging |
Het |
| Tpst2 |
T |
C |
5: 112,456,091 (GRCm39) |
V210A |
probably damaging |
Het |
| Uchl1 |
A |
T |
5: 66,839,824 (GRCm39) |
E122V |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,405 (GRCm39) |
F294I |
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 |
|
IGL02198:Cep78
|
APN |
19 |
15,933,733 (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 |
|
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 |
2016-08-02 |
Incidental Mutation