Incidental Mutation 'R5890:Cep89'
| ID |
457091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep89
|
| Ensembl Gene |
ENSMUSG00000023072 |
| Gene Name |
centrosomal protein 89 |
| Synonyms |
Ccdc123, 2610507L03Rik |
| MMRRC Submission |
044091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R5890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35128587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 580
(Y580C)
|
| 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: Y580C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: Y580C
| 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 damaging
Transcript: ENSMUST00000141704
AA Change: Y580C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: Y580C
| 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 |
unknown
Transcript: ENSMUST00000150421
AA Change: Y17C
|
| SMART Domains |
Protein: ENSMUSP00000121422
Gene: ENSMUSG00000023072
AA Change: Y17C
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,550,554 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,374,457 (GRCm39) |
T303N |
probably benign |
Het |
| Adamts13 |
A |
T |
2: 26,876,603 (GRCm39) |
R506W |
probably damaging |
Het |
| Adck5 |
C |
T |
15: 76,477,785 (GRCm39) |
T166M |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,687,266 (GRCm39) |
I413F |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,564,811 (GRCm39) |
D252E |
probably damaging |
Het |
| Aldh16a1 |
T |
A |
7: 44,793,969 (GRCm39) |
T636S |
probably benign |
Het |
| Ampd1 |
C |
A |
3: 102,997,391 (GRCm39) |
F264L |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,885,981 (GRCm39) |
|
probably benign |
Het |
| Babam2 |
A |
G |
5: 32,222,151 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,164,096 (GRCm39) |
Q40* |
probably null |
Het |
| Bod1l |
T |
A |
5: 41,977,921 (GRCm39) |
E1131V |
probably benign |
Het |
| Cbs |
C |
T |
17: 31,832,193 (GRCm39) |
V553M |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,454,475 (GRCm39) |
K18R |
probably damaging |
Het |
| Chrnb1 |
T |
A |
11: 69,683,555 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cntf |
A |
G |
19: 12,741,357 (GRCm39) |
W168R |
probably damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,354,237 (GRCm39) |
D648E |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,700,936 (GRCm39) |
L294Q |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,605,414 (GRCm39) |
S532P |
probably damaging |
Het |
| Defb3 |
G |
A |
8: 19,345,200 (GRCm39) |
C52Y |
probably damaging |
Het |
| Dennd5a |
T |
G |
7: 109,533,428 (GRCm39) |
E114A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,428,039 (GRCm39) |
F222L |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,905,820 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
T |
5: 96,793,807 (GRCm39) |
H1043L |
probably benign |
Het |
| Gamt |
C |
A |
10: 80,095,741 (GRCm39) |
R63L |
possibly damaging |
Het |
| Gm1527 |
A |
G |
3: 28,969,544 (GRCm39) |
H298R |
probably benign |
Het |
| Gphb5 |
C |
T |
12: 75,462,596 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
T |
12: 16,783,422 (GRCm39) |
V104D |
possibly damaging |
Het |
| Hck |
A |
G |
2: 152,970,996 (GRCm39) |
D86G |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,833,958 (GRCm39) |
K321* |
probably null |
Het |
| Kcna5 |
C |
T |
6: 126,511,699 (GRCm39) |
R143H |
probably damaging |
Het |
| Kif19a |
G |
T |
11: 114,680,264 (GRCm39) |
W867L |
possibly damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,303 (GRCm39) |
A376V |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,133,914 (GRCm39) |
M661K |
probably benign |
Het |
| Mecp2 |
C |
T |
X: 73,079,043 (GRCm39) |
V496M |
probably damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,917,651 (GRCm39) |
C132S |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,966,666 (GRCm39) |
Y356C |
probably damaging |
Het |
| Mif4gd |
G |
T |
11: 115,500,188 (GRCm39) |
A89E |
probably benign |
Het |
| Mkln1 |
A |
T |
6: 31,467,482 (GRCm39) |
E593D |
probably benign |
Het |
| Mlh1 |
G |
T |
9: 111,057,563 (GRCm39) |
N749K |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,201,707 (GRCm39) |
*339C |
probably null |
Het |
| Nphp4 |
T |
C |
4: 152,631,536 (GRCm39) |
V812A |
probably benign |
Het |
| Nrcam |
G |
T |
12: 44,623,554 (GRCm39) |
V1048L |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,470,503 (GRCm39) |
A856V |
probably damaging |
Het |
| Osgepl1 |
T |
A |
1: 53,357,326 (GRCm39) |
F163I |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 37,102,121 (GRCm39) |
T438K |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,286 (GRCm39) |
M271L |
probably benign |
Het |
| Phip |
T |
C |
9: 82,789,005 (GRCm39) |
T770A |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,217,734 (GRCm39) |
T166A |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,081,932 (GRCm39) |
I1102K |
probably benign |
Het |
| Sbsn |
T |
C |
7: 30,452,692 (GRCm39) |
V569A |
possibly damaging |
Het |
| Skida1 |
T |
A |
2: 18,050,814 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,789,809 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,386,535 (GRCm39) |
Y168H |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,443,172 (GRCm39) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,500 (GRCm39) |
W215R |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,552,067 (GRCm39) |
L2502P |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,890,703 (GRCm39) |
E10V |
probably damaging |
Het |
| Trip11 |
T |
C |
12: 101,852,231 (GRCm39) |
E611G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,540,243 (GRCm39) |
A34248S |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,921,776 (GRCm39) |
N49K |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,863,290 (GRCm39) |
D855G |
possibly damaging |
Het |
| Ugt8a |
A |
G |
3: 125,669,202 (GRCm39) |
S301P |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,824,534 (GRCm39) |
N1295I |
possibly damaging |
Het |
| Wdr47 |
G |
T |
3: 108,517,328 (GRCm39) |
G43C |
probably damaging |
Het |
| Wdtc1 |
A |
C |
4: 133,021,673 (GRCm39) |
L601W |
unknown |
Het |
| Zfp236 |
A |
G |
18: 82,658,276 (GRCm39) |
F614S |
possibly damaging |
Het |
| Zfp637 |
T |
A |
6: 117,822,047 (GRCm39) |
D58E |
possibly 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 |
|
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'- AAAGCCTGTTTTCCCGTTACTG -3'
(R):5'- GTCACGTTTGTATACGAAGCTTAAG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TTCCTTGGTGACAGTCTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation