Incidental Mutation 'IGL02001:Cep89'
ID |
183069 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cep89
|
Ensembl Gene |
ENSMUSG00000023072 |
Gene Name |
centrosomal protein 89 |
Synonyms |
Ccdc123, 2610507L03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
IGL02001
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 35102432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
[ENSMUST00000206854]
|
AlphaFold |
Q9CZX2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079414
|
SMART Domains |
Protein: ENSMUSP00000078383 Gene: ENSMUSG00000023072
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
62 |
N/A |
INTRINSIC |
low complexity region
|
181 |
190 |
N/A |
INTRINSIC |
coiled coil region
|
252 |
291 |
N/A |
INTRINSIC |
coiled coil region
|
372 |
598 |
N/A |
INTRINSIC |
coiled coil region
|
670 |
732 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125041
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141704
|
SMART Domains |
Protein: ENSMUSP00000121393 Gene: ENSMUSG00000023072
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
62 |
N/A |
INTRINSIC |
low complexity region
|
181 |
190 |
N/A |
INTRINSIC |
coiled coil region
|
252 |
291 |
N/A |
INTRINSIC |
coiled coil region
|
372 |
598 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206854
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Gene trapped(5) |
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
T |
C |
17: 48,473,842 (GRCm39) |
N25S |
possibly damaging |
Het |
Als2 |
A |
T |
1: 59,219,347 (GRCm39) |
|
probably benign |
Het |
Asah2 |
T |
A |
19: 32,020,939 (GRCm39) |
K255* |
probably null |
Het |
Bclaf1 |
A |
G |
10: 20,198,762 (GRCm39) |
|
probably benign |
Het |
Bpifb2 |
T |
C |
2: 153,733,195 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
G |
A |
9: 107,399,315 (GRCm39) |
V669I |
probably benign |
Het |
Chl1 |
T |
G |
6: 103,619,017 (GRCm39) |
L29R |
possibly damaging |
Het |
Defb2 |
T |
C |
8: 22,333,353 (GRCm39) |
Y43H |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
Egf |
G |
T |
3: 129,510,417 (GRCm39) |
A34E |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,203,071 (GRCm39) |
M1K |
probably null |
Het |
Gprin1 |
T |
C |
13: 54,887,005 (GRCm39) |
E423G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,918,375 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,798,164 (GRCm39) |
E925G |
probably damaging |
Het |
Kctd16 |
A |
T |
18: 40,391,733 (GRCm39) |
K107I |
possibly damaging |
Het |
Lrig1 |
T |
C |
6: 94,584,305 (GRCm39) |
K913R |
probably benign |
Het |
Marchf7 |
A |
G |
2: 60,065,235 (GRCm39) |
T504A |
possibly damaging |
Het |
Mrpl11 |
C |
T |
19: 5,013,680 (GRCm39) |
R154* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,149,394 (GRCm39) |
F334L |
probably benign |
Het |
Or2z2 |
C |
T |
11: 58,346,335 (GRCm39) |
V147M |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,746 (GRCm39) |
T79S |
probably benign |
Het |
Parp6 |
A |
G |
9: 59,557,244 (GRCm39) |
T610A |
possibly damaging |
Het |
Pcdhb15 |
T |
G |
18: 37,607,091 (GRCm39) |
L108V |
probably benign |
Het |
Pomgnt1 |
G |
T |
4: 116,010,105 (GRCm39) |
E156* |
probably null |
Het |
Psma2 |
T |
G |
13: 14,798,192 (GRCm39) |
F105V |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,055,396 (GRCm39) |
|
probably benign |
Het |
Sclt1 |
A |
T |
3: 41,636,156 (GRCm39) |
S282T |
possibly damaging |
Het |
Semp2l2b |
A |
T |
10: 21,943,176 (GRCm39) |
M268K |
probably benign |
Het |
Serpina3f |
A |
G |
12: 104,185,725 (GRCm39) |
Y310C |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,261,886 (GRCm39) |
K331R |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,178,027 (GRCm39) |
F183L |
possibly damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,403,388 (GRCm39) |
H327R |
probably damaging |
Het |
Try10 |
T |
A |
6: 41,333,523 (GRCm39) |
D89E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,587,128 (GRCm39) |
S21623L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,612,282 (GRCm39) |
L15489P |
probably damaging |
Het |
Vdac3-ps1 |
A |
G |
13: 18,205,973 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r69 |
T |
A |
7: 85,056,434 (GRCm39) |
Q568L |
probably benign |
Het |
Wdr36 |
T |
A |
18: 32,985,941 (GRCm39) |
D548E |
probably damaging |
Het |
Zfand4 |
T |
A |
6: 116,250,613 (GRCm39) |
H14Q |
probably benign |
Het |
|
Other mutations in Cep89 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00784:Cep89
|
APN |
7 |
35,105,132 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01546:Cep89
|
APN |
7 |
35,120,325 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02141:Cep89
|
APN |
7 |
35,120,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02468:Cep89
|
APN |
7 |
35,102,577 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02507:Cep89
|
APN |
7 |
35,134,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02612:Cep89
|
APN |
7 |
35,124,080 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03324:Cep89
|
APN |
7 |
35,124,078 (GRCm39) |
intron |
probably benign |
|
IGL03396:Cep89
|
APN |
7 |
35,128,603 (GRCm39) |
missense |
probably benign |
0.05 |
3-1:Cep89
|
UTSW |
7 |
35,124,147 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4304:Cep89
|
UTSW |
7 |
35,109,066 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4976:Cep89
|
UTSW |
7 |
35,109,066 (GRCm39) |
utr 3 prime |
probably benign |
|
K2124:Cep89
|
UTSW |
7 |
35,120,397 (GRCm39) |
splice site |
probably benign |
|
R0127:Cep89
|
UTSW |
7 |
35,127,687 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0416:Cep89
|
UTSW |
7 |
35,115,827 (GRCm39) |
unclassified |
probably benign |
|
R0609:Cep89
|
UTSW |
7 |
35,134,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R1442:Cep89
|
UTSW |
7 |
35,117,636 (GRCm39) |
splice site |
probably benign |
|
R1468:Cep89
|
UTSW |
7 |
35,120,388 (GRCm39) |
splice site |
probably null |
|
R1468:Cep89
|
UTSW |
7 |
35,120,388 (GRCm39) |
splice site |
probably null |
|
R1661:Cep89
|
UTSW |
7 |
35,117,105 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3981:Cep89
|
UTSW |
7 |
35,137,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R4414:Cep89
|
UTSW |
7 |
35,115,822 (GRCm39) |
unclassified |
probably benign |
|
R4700:Cep89
|
UTSW |
7 |
35,137,862 (GRCm39) |
missense |
probably benign |
0.05 |
R4963:Cep89
|
UTSW |
7 |
35,102,577 (GRCm39) |
missense |
probably benign |
0.35 |
R4968:Cep89
|
UTSW |
7 |
35,109,055 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4972:Cep89
|
UTSW |
7 |
35,131,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R5578:Cep89
|
UTSW |
7 |
35,109,067 (GRCm39) |
unclassified |
probably benign |
|
R5767:Cep89
|
UTSW |
7 |
35,117,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Cep89
|
UTSW |
7 |
35,117,151 (GRCm39) |
missense |
probably damaging |
0.97 |
R5890:Cep89
|
UTSW |
7 |
35,128,587 (GRCm39) |
missense |
probably damaging |
0.99 |
R6290:Cep89
|
UTSW |
7 |
35,119,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R6361:Cep89
|
UTSW |
7 |
35,097,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R6627:Cep89
|
UTSW |
7 |
35,127,172 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7272:Cep89
|
UTSW |
7 |
35,137,888 (GRCm39) |
missense |
probably benign |
0.03 |
R7340:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7341:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7347:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7348:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7365:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7366:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7394:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7399:Cep89
|
UTSW |
7 |
35,137,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R7422:Cep89
|
UTSW |
7 |
35,127,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7793:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R7819:Cep89
|
UTSW |
7 |
35,131,968 (GRCm39) |
missense |
probably benign |
0.07 |
R7860:Cep89
|
UTSW |
7 |
35,113,570 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7899:Cep89
|
UTSW |
7 |
35,129,353 (GRCm39) |
missense |
probably damaging |
0.97 |
R8336:Cep89
|
UTSW |
7 |
35,127,141 (GRCm39) |
nonsense |
probably null |
|
R8669:Cep89
|
UTSW |
7 |
35,128,602 (GRCm39) |
missense |
probably benign |
0.04 |
R8974:Cep89
|
UTSW |
7 |
35,097,493 (GRCm39) |
missense |
probably damaging |
0.99 |
R9580:Cep89
|
UTSW |
7 |
35,102,538 (GRCm39) |
missense |
possibly damaging |
0.63 |
V7732:Cep89
|
UTSW |
7 |
35,102,523 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cep89
|
UTSW |
7 |
35,096,506 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2014-05-07 |