Incidental Mutation 'IGL02507:Cep89'
ID |
296408 |
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: 0.167)
|
Stock # |
IGL02507
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35134990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 686
(Y686C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
|
AlphaFold |
Q9CZX2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079414
AA Change: Y686C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078383 Gene: ENSMUSG00000023072 AA Change: Y686C
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: ENSMUST00000140418
|
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 |
unknown
Transcript: ENSMUST00000150421
AA Change: Y93C
|
SMART Domains |
Protein: ENSMUSP00000121422 Gene: ENSMUSG00000023072 AA Change: Y93C
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
coiled coil region
|
77 |
139 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Gene trapped(5) |
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,349,388 (GRCm39) |
Y3654C |
probably damaging |
Het |
Aldh1l2 |
A |
C |
10: 83,328,448 (GRCm39) |
Y756* |
probably null |
Het |
Arhgef12 |
T |
C |
9: 42,903,859 (GRCm39) |
E733G |
probably damaging |
Het |
Art5 |
A |
T |
7: 101,748,699 (GRCm39) |
M1K |
probably null |
Het |
Atp1a2 |
A |
T |
1: 172,113,338 (GRCm39) |
D448E |
probably damaging |
Het |
Atp6v1b1 |
C |
T |
6: 83,733,837 (GRCm39) |
T356I |
possibly damaging |
Het |
Celsr1 |
A |
G |
15: 85,784,889 (GRCm39) |
|
probably benign |
Het |
Cgrrf1 |
T |
A |
14: 47,090,901 (GRCm39) |
Y212* |
probably null |
Het |
Chrnb1 |
T |
C |
11: 69,675,916 (GRCm39) |
Y442C |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,284,007 (GRCm39) |
|
probably benign |
Het |
Clcn7 |
G |
A |
17: 25,363,443 (GRCm39) |
V40M |
probably damaging |
Het |
Cntn1 |
A |
G |
15: 92,148,860 (GRCm39) |
Y369C |
possibly damaging |
Het |
Csmd1 |
T |
C |
8: 17,584,992 (GRCm39) |
|
probably benign |
Het |
Dpy19l2 |
A |
T |
9: 24,542,563 (GRCm39) |
C446S |
probably benign |
Het |
Edem3 |
G |
A |
1: 151,687,407 (GRCm39) |
E782K |
probably benign |
Het |
Efcab15 |
T |
A |
11: 103,090,275 (GRCm39) |
Q287L |
probably damaging |
Het |
Ephb3 |
T |
A |
16: 21,039,389 (GRCm39) |
|
probably benign |
Het |
Fndc4 |
T |
C |
5: 31,452,090 (GRCm39) |
D109G |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,805,267 (GRCm39) |
V1303A |
possibly damaging |
Het |
Gcn1 |
T |
C |
5: 115,723,940 (GRCm39) |
L532P |
probably benign |
Het |
Gm5150 |
A |
G |
3: 16,017,485 (GRCm39) |
L262P |
probably damaging |
Het |
Hbb-bs |
T |
C |
7: 103,477,091 (GRCm39) |
|
probably benign |
Het |
Krt74 |
A |
G |
15: 101,669,059 (GRCm39) |
|
noncoding transcript |
Het |
Myo1a |
T |
C |
10: 127,548,478 (GRCm39) |
V375A |
probably damaging |
Het |
Nup160 |
A |
T |
2: 90,560,079 (GRCm39) |
Q1268L |
probably benign |
Het |
Or4k42 |
G |
A |
2: 111,319,768 (GRCm39) |
T245M |
possibly damaging |
Het |
Or51ag1 |
G |
T |
7: 103,155,925 (GRCm39) |
S76* |
probably null |
Het |
Or5d16 |
G |
A |
2: 87,773,262 (GRCm39) |
R237* |
probably null |
Het |
Or9s27 |
T |
C |
1: 92,516,648 (GRCm39) |
S199P |
possibly damaging |
Het |
Pan3 |
T |
C |
5: 147,463,406 (GRCm39) |
S497P |
probably damaging |
Het |
Pex5 |
T |
C |
6: 124,390,264 (GRCm39) |
T138A |
probably benign |
Het |
Pik3ap1 |
A |
G |
19: 41,270,451 (GRCm39) |
|
probably benign |
Het |
Ptchd4 |
A |
T |
17: 42,627,764 (GRCm39) |
H75L |
possibly damaging |
Het |
Rag2 |
A |
T |
2: 101,461,055 (GRCm39) |
H455L |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,470,351 (GRCm39) |
E159V |
probably damaging |
Het |
Rrn3 |
A |
G |
16: 13,606,721 (GRCm39) |
N109S |
probably benign |
Het |
Scn1a |
A |
T |
2: 66,108,157 (GRCm39) |
V1523D |
probably damaging |
Het |
Sec23a |
A |
G |
12: 59,053,884 (GRCm39) |
V38A |
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,602,021 (GRCm39) |
T92M |
possibly damaging |
Het |
Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,906,067 (GRCm39) |
D1671G |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,861,167 (GRCm39) |
|
probably benign |
Het |
Stau2 |
A |
T |
1: 16,556,293 (GRCm39) |
I22N |
possibly damaging |
Het |
Strn3 |
A |
T |
12: 51,708,410 (GRCm39) |
Y123* |
probably null |
Het |
Tmem205 |
A |
G |
9: 21,837,607 (GRCm39) |
V13A |
possibly damaging |
Het |
Trub1 |
G |
A |
19: 57,472,009 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,568,699 (GRCm39) |
V27398A |
possibly damaging |
Het |
Vill |
A |
G |
9: 118,899,845 (GRCm39) |
E343G |
possibly damaging |
Het |
Zgpat |
T |
C |
2: 181,008,029 (GRCm39) |
F189L |
probably damaging |
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 |
IGL02001:Cep89
|
APN |
7 |
35,102,432 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
2015-04-16 |