Incidental Mutation 'R4414:Cep89'
ID |
328065 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep89
|
Ensembl Gene |
ENSMUSG00000023072 |
Gene Name |
centrosomal protein 89 |
Synonyms |
Ccdc123, 2610507L03Rik |
MMRRC Submission |
041694-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
R4414 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 35115822 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145618
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
[ENSMUST00000206230]
|
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000148166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152020
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155137
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206230
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
All alleles(5) : Gene trapped(5) |
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
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 |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCACTGCACACTTAGGC -3'
(R):5'- GCTAGTCACAGCATCAGACC -3'
Sequencing Primer
(F):5'- ACACTTAGGCCCGGAGAG -3'
(R):5'- CCCAGAGCCTTCACAGGGAG -3'
|
Posted On |
2015-07-07 |