Incidental Mutation 'R7272:Cep89'
ID |
565352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep89
|
Ensembl Gene |
ENSMUSG00000023072 |
Gene Name |
centrosomal protein 89 |
Synonyms |
Ccdc123, 2610507L03Rik |
MMRRC Submission |
045391-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R7272 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35137888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 757
(R757S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
|
AlphaFold |
Q9CZX2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079414
AA Change: R757S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000078383 Gene: ENSMUSG00000023072 AA Change: R757S
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 |
|
SMART Domains |
Protein: ENSMUSP00000121422 Gene: ENSMUSG00000023072 AA Change: R164S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
All alleles(5) : Gene trapped(5) |
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,471,655 (GRCm39) |
I1020T |
probably benign |
Het |
2310057N15Rik |
A |
T |
16: 88,570,523 (GRCm39) |
Y172* |
probably null |
Het |
4930558K02Rik |
T |
A |
1: 161,770,092 (GRCm39) |
Y139F |
possibly damaging |
Het |
A830018L16Rik |
T |
G |
1: 11,658,695 (GRCm39) |
M202R |
probably damaging |
Het |
Abca12 |
T |
C |
1: 71,287,591 (GRCm39) |
E2450G |
probably damaging |
Het |
Ank2 |
C |
T |
3: 126,736,782 (GRCm39) |
R3034H |
unknown |
Het |
Anxa9 |
A |
G |
3: 95,213,184 (GRCm39) |
I54T |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,961,941 (GRCm39) |
|
probably null |
Het |
Aspm |
T |
C |
1: 139,386,066 (GRCm39) |
I570T |
probably benign |
Het |
Bcar3 |
A |
T |
3: 122,302,045 (GRCm39) |
I247F |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,829,334 (GRCm39) |
V130A |
probably damaging |
Het |
Cryga |
A |
T |
1: 65,142,381 (GRCm39) |
I4N |
probably damaging |
Het |
Cyp2d26 |
T |
A |
15: 82,676,764 (GRCm39) |
Y194F |
probably benign |
Het |
Edn2 |
G |
A |
4: 120,019,143 (GRCm39) |
R44H |
probably damaging |
Het |
Ep400 |
G |
A |
5: 110,903,511 (GRCm39) |
Q363* |
probably null |
Het |
Gpr33 |
T |
C |
12: 52,070,848 (GRCm39) |
T64A |
probably damaging |
Het |
Ice2 |
T |
A |
9: 69,324,365 (GRCm39) |
S763T |
possibly damaging |
Het |
Itgad |
C |
A |
7: 127,804,245 (GRCm39) |
F1169L |
probably damaging |
Het |
Kcnv1 |
A |
G |
15: 44,976,576 (GRCm39) |
L237P |
probably benign |
Het |
Kctd18 |
T |
C |
1: 57,995,710 (GRCm39) |
E356G |
probably damaging |
Het |
Krt33a |
C |
T |
11: 99,902,837 (GRCm39) |
R329Q |
probably damaging |
Het |
Lama2 |
C |
A |
10: 27,000,552 (GRCm39) |
G1657C |
probably damaging |
Het |
Marchf3 |
T |
G |
18: 56,895,593 (GRCm39) |
R217S |
probably benign |
Het |
Mmel1 |
A |
T |
4: 154,978,547 (GRCm39) |
T660S |
probably damaging |
Het |
Ms4a7 |
T |
A |
19: 11,310,642 (GRCm39) |
K59* |
probably null |
Het |
Mss51 |
G |
A |
14: 20,534,981 (GRCm39) |
T263I |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,248,385 (GRCm39) |
M199V |
probably benign |
Het |
Ndufa4 |
G |
A |
6: 11,905,209 (GRCm39) |
Q62* |
probably null |
Het |
Nectin4 |
A |
G |
1: 171,214,212 (GRCm39) |
T456A |
probably damaging |
Het |
Nek1 |
T |
C |
8: 61,578,120 (GRCm39) |
M1214T |
probably benign |
Het |
Nsf |
T |
A |
11: 103,718,064 (GRCm39) |
L710F |
probably damaging |
Het |
Nynrin |
G |
T |
14: 56,107,872 (GRCm39) |
G993V |
probably damaging |
Het |
Or1e31 |
T |
A |
11: 73,689,695 (GRCm39) |
D296V |
probably damaging |
Het |
Pbk |
T |
A |
14: 66,052,621 (GRCm39) |
Y155N |
probably damaging |
Het |
Plec |
T |
C |
15: 76,059,153 (GRCm39) |
I3595V |
possibly damaging |
Het |
Pom121 |
G |
A |
5: 135,409,941 (GRCm39) |
T1072I |
unknown |
Het |
Sdc1 |
T |
A |
12: 8,840,554 (GRCm39) |
H106Q |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,254,764 (GRCm39) |
D618G |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,401,878 (GRCm39) |
D755G |
possibly damaging |
Het |
Slfn9 |
T |
C |
11: 82,872,387 (GRCm39) |
Y783C |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,975,006 (GRCm39) |
|
probably null |
Het |
Spindoc |
C |
T |
19: 7,360,085 (GRCm39) |
E28K |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,064,859 (GRCm39) |
D1880G |
possibly damaging |
Het |
Sspn |
T |
A |
6: 145,907,200 (GRCm39) |
D210E |
probably benign |
Het |
Stx12 |
A |
T |
4: 132,584,687 (GRCm39) |
I219K |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,095,417 (GRCm39) |
V508A |
probably benign |
Het |
Tkt |
G |
T |
14: 30,287,564 (GRCm39) |
R186L |
probably damaging |
Het |
Trmt10a |
T |
A |
3: 137,860,527 (GRCm39) |
M241K |
probably damaging |
Het |
Vgll2 |
C |
A |
10: 51,903,758 (GRCm39) |
A207E |
possibly damaging |
Het |
Vmn1r114 |
A |
G |
7: 20,545,543 (GRCm39) |
F190S |
probably damaging |
Het |
Xpot |
C |
T |
10: 121,453,094 (GRCm39) |
|
probably null |
Het |
Yrdc |
G |
A |
4: 124,744,820 (GRCm39) |
A85T |
probably benign |
Het |
Zfp385c |
C |
T |
11: 100,520,865 (GRCm39) |
R265K |
possibly damaging |
Het |
Zgrf1 |
A |
T |
3: 127,392,409 (GRCm39) |
I1310F |
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 |
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 |
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'- AGGTCCTTGACTAACTGGGC -3'
(R):5'- CTATGACACTCAGTGGCTTCC -3'
Sequencing Primer
(F):5'- TGACTAACTGGGCCACCTC -3'
(R):5'- CACGGGCCTTCTTGTCACAC -3'
|
Posted On |
2019-06-26 |