Incidental Mutation 'R5767:Cep89'
| ID |
446326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep89
|
| Ensembl Gene |
ENSMUSG00000023072 |
| Gene Name |
centrosomal protein 89 |
| Synonyms |
Ccdc123, 2610507L03Rik |
| MMRRC Submission |
043367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R5767 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35117070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 224
(V224E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
[ENSMUST00000206230]
|
| AlphaFold |
Q9CZX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079414
AA Change: V224E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: V224E
| 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 |
possibly damaging
Transcript: ENSMUST00000141704
AA Change: V224E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: V224E
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
A |
T |
10: 89,562,617 (GRCm39) |
D87E |
probably damaging |
Het |
| AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
| Ano3 |
A |
T |
2: 110,491,616 (GRCm39) |
Y887N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,106,867 (GRCm39) |
D313G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,887,923 (GRCm39) |
V20A |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,623,061 (GRCm39) |
D312G |
possibly damaging |
Het |
| C2 |
T |
A |
17: 35,095,432 (GRCm39) |
N171I |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,395,187 (GRCm39) |
N865K |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,436,584 (GRCm39) |
V1038I |
probably benign |
Het |
| Dennd2d |
C |
T |
3: 106,395,131 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,986,408 (GRCm39) |
K1157N |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,595,549 (GRCm39) |
L584* |
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,895,367 (GRCm39) |
A795T |
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,731,468 (GRCm39) |
I242N |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,041,090 (GRCm39) |
H394R |
probably damaging |
Het |
| Gm27013 |
C |
T |
6: 130,652,921 (GRCm39) |
C847Y |
possibly damaging |
Het |
| Ifna5 |
C |
A |
4: 88,754,036 (GRCm39) |
T92K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,807,800 (GRCm39) |
M674V |
probably benign |
Het |
| Itga2 |
C |
T |
13: 114,976,106 (GRCm39) |
V1089M |
possibly damaging |
Het |
| Kctd16 |
A |
T |
18: 40,391,922 (GRCm39) |
Y170F |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,843,039 (GRCm39) |
N45D |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,496,901 (GRCm39) |
K420E |
possibly damaging |
Het |
| Ms4a14 |
G |
T |
19: 11,279,391 (GRCm39) |
Q1056K |
probably benign |
Het |
| Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,316 (GRCm39) |
Y252C |
probably benign |
Het |
| Or8k21 |
T |
A |
2: 86,144,742 (GRCm39) |
E296V |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,381,185 (GRCm39) |
E571G |
probably benign |
Het |
| Pmel |
T |
C |
10: 128,550,250 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptger2 |
G |
T |
14: 45,226,599 (GRCm39) |
G60C |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,312,647 (GRCm39) |
S1122R |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,003,732 (GRCm39) |
D309G |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,443,230 (GRCm39) |
C303S |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpini1 |
C |
T |
3: 75,520,388 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
G |
T |
1: 58,058,819 (GRCm39) |
E1133* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Smarcc1 |
G |
A |
9: 109,961,251 (GRCm39) |
|
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,483,518 (GRCm39) |
E749G |
probably benign |
Het |
| Tmc3 |
G |
A |
7: 83,249,190 (GRCm39) |
A260T |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,348,550 (GRCm39) |
Y54C |
probably damaging |
Het |
| Urb1 |
T |
A |
16: 90,573,051 (GRCm39) |
M994L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 10,009,935 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,641,928 (GRCm39) |
Y2233C |
probably damaging |
Het |
| Wnt2 |
G |
T |
6: 17,990,027 (GRCm39) |
A290E |
probably damaging |
Het |
| Zc3h8 |
A |
T |
2: 128,772,812 (GRCm39) |
C225* |
probably null |
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 |
|
|
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'- TGTTTGGACACCAGGGACAC -3'
(R):5'- TGTCCCTTAATAATGGTGCCAGG -3'
Sequencing Primer
(F):5'- AGGGACACGGCCTCAGG -3'
(R):5'- TCCTGACAGGAAGCCTTTTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation