Incidental Mutation 'R8336:Cep89'
ID |
644615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep89
|
Ensembl Gene |
ENSMUSG00000023072 |
Gene Name |
centrosomal protein 89 |
Synonyms |
Ccdc123, 2610507L03Rik |
MMRRC Submission |
067729-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R8336 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 35127141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 501
(K501*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
[ENSMUST00000206230]
|
AlphaFold |
Q9CZX2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000079414
AA Change: K501*
|
SMART Domains |
Protein: ENSMUSP00000078383 Gene: ENSMUSG00000023072 AA Change: K501*
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 null
Transcript: ENSMUST00000141704
AA Change: K501*
|
SMART Domains |
Protein: ENSMUSP00000121393 Gene: ENSMUSG00000023072 AA Change: K501*
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: ENSMUST00000150421
|
SMART Domains |
Protein: ENSMUSP00000121422 Gene: ENSMUSG00000023072
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
coiled coil region
|
77 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206230
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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 |
4930578I06Rik |
T |
C |
14: 64,223,545 (GRCm39) |
K77R |
probably benign |
Het |
Acta1 |
C |
T |
8: 124,619,310 (GRCm39) |
E261K |
possibly damaging |
Het |
Adamts19 |
A |
T |
18: 59,140,444 (GRCm39) |
I848L |
possibly damaging |
Het |
Adck1 |
C |
A |
12: 88,335,249 (GRCm39) |
T45K |
probably damaging |
Het |
Agl |
A |
G |
3: 116,566,495 (GRCm39) |
F291S |
|
Het |
BC048671 |
T |
C |
6: 90,279,849 (GRCm39) |
V24A |
probably benign |
Het |
Brsk2 |
C |
T |
7: 141,538,211 (GRCm39) |
A119V |
probably damaging |
Het |
Cacnb1 |
A |
G |
11: 97,894,119 (GRCm39) |
Y468H |
probably benign |
Het |
Ces2a |
T |
A |
8: 105,465,665 (GRCm39) |
F306I |
probably damaging |
Het |
Col6a4 |
T |
A |
9: 105,952,528 (GRCm39) |
I457F |
possibly damaging |
Het |
Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
Dnah12 |
C |
A |
14: 26,432,220 (GRCm39) |
T444K |
probably benign |
Het |
Dusp5 |
T |
C |
19: 53,529,406 (GRCm39) |
S270P |
probably damaging |
Het |
Eppk1 |
T |
TCAC |
15: 75,992,152 (GRCm39) |
|
probably null |
Het |
Esam |
T |
A |
9: 37,448,362 (GRCm39) |
I267K |
probably benign |
Het |
Fastkd1 |
A |
G |
2: 69,542,489 (GRCm39) |
V106A |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,821,099 (GRCm39) |
T5611A |
possibly damaging |
Het |
Gcc2 |
A |
G |
10: 58,108,189 (GRCm39) |
D933G |
probably damaging |
Het |
Gm16506 |
T |
A |
14: 43,964,825 (GRCm39) |
H39L |
|
Het |
Gm5145 |
A |
T |
17: 20,790,687 (GRCm39) |
N22Y |
probably damaging |
Het |
Gm6465 |
A |
T |
5: 11,896,780 (GRCm39) |
R50W |
probably damaging |
Het |
Hivep1 |
C |
A |
13: 42,309,405 (GRCm39) |
D548E |
probably benign |
Het |
Hnrnpl |
C |
A |
7: 28,513,462 (GRCm39) |
S178R |
possibly damaging |
Het |
Hsp90b1 |
A |
G |
10: 86,526,968 (GRCm39) |
*803Q |
probably null |
Het |
Kdm5a |
A |
G |
6: 120,396,407 (GRCm39) |
N1088S |
probably benign |
Het |
Klk1b11 |
C |
T |
7: 43,425,865 (GRCm39) |
|
probably benign |
Het |
Kmt5b |
T |
C |
19: 3,865,531 (GRCm39) |
I865T |
probably damaging |
Het |
Map3k10 |
C |
A |
7: 27,372,884 (GRCm39) |
R189L |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,603,430 (GRCm39) |
S1040P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,163,902 (GRCm39) |
S2019G |
probably damaging |
Het |
Nfrkb |
T |
C |
9: 31,314,815 (GRCm39) |
V545A |
possibly damaging |
Het |
Nkd2 |
G |
T |
13: 73,969,192 (GRCm39) |
P425T |
probably damaging |
Het |
Or5h26 |
T |
C |
16: 58,987,918 (GRCm39) |
Y196C |
possibly damaging |
Het |
Ostm1 |
A |
G |
10: 42,572,334 (GRCm39) |
Y239C |
probably damaging |
Het |
Pabpc1l |
A |
G |
2: 163,874,204 (GRCm39) |
D203G |
probably benign |
Het |
Pcdhb21 |
T |
A |
18: 37,648,942 (GRCm39) |
Y690* |
probably null |
Het |
Pla2r1 |
C |
A |
2: 60,253,027 (GRCm39) |
V1355F |
possibly damaging |
Het |
Pms1 |
C |
T |
1: 53,245,985 (GRCm39) |
S518N |
probably benign |
Het |
Rab44 |
A |
T |
17: 29,367,249 (GRCm39) |
*726C |
probably null |
Het |
Rin1 |
A |
T |
19: 5,105,013 (GRCm39) |
H691L |
possibly damaging |
Het |
Slc30a9 |
T |
A |
5: 67,473,058 (GRCm39) |
Y47* |
probably null |
Het |
Sp9 |
T |
A |
2: 73,104,796 (GRCm39) |
V450D |
possibly damaging |
Het |
Sstr3 |
T |
C |
15: 78,424,693 (GRCm39) |
N18S |
probably damaging |
Het |
Sugct |
T |
A |
13: 17,032,504 (GRCm39) |
Y416F |
probably benign |
Het |
Tcf3 |
T |
C |
10: 80,257,000 (GRCm39) |
T75A |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,746,808 (GRCm39) |
V999A |
probably damaging |
Het |
Tfap2c |
T |
A |
2: 172,399,112 (GRCm39) |
L453* |
probably null |
Het |
Trip12 |
A |
T |
1: 84,743,762 (GRCm39) |
M515K |
probably benign |
Het |
Vstm2a |
G |
A |
11: 16,207,801 (GRCm39) |
|
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 |
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 |
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'- ACTACCACACCTGTCTAATACTTATAT -3'
(R):5'- CAGATTCTAGGCCCCGGTG -3'
Sequencing Primer
(F):5'- ACTCTGGACCTTTGGAAGAGC -3'
(R):5'- AAAACAAAAAGCAGCAACAACAAAG -3'
|
Posted On |
2020-09-02 |