Incidental Mutation 'R3981:Cep89'
| ID |
351168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep89
|
| Ensembl Gene |
ENSMUSG00000023072 |
| Gene Name |
centrosomal protein 89 |
| Synonyms |
Ccdc123, 2610507L03Rik |
| MMRRC Submission |
040943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R3981 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35137808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 731
(R731G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
|
| AlphaFold |
Q9CZX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079414
AA Change: R731G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: R731G
| 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 |
possibly damaging
Transcript: ENSMUST00000150421
AA Change: R138G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121422
Gene: ENSMUSG00000023072
AA Change: R138G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
35 |
N/A |
INTRINSIC |
|
coiled coil region
|
77 |
139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185699
|
| Meta Mutation Damage Score |
0.4438 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (58/59) |
| 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 |
|---|
| Abca13 |
T |
G |
11: 9,482,407 (GRCm39) |
C4313G |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bhlhe22 |
G |
T |
3: 18,109,058 (GRCm39) |
R36L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,609,314 (GRCm39) |
E18G |
probably benign |
Het |
| Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
| Cep295 |
G |
T |
9: 15,228,363 (GRCm39) |
|
probably benign |
Het |
| Chrnb3 |
C |
T |
8: 27,884,034 (GRCm39) |
T257M |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,631,797 (GRCm39) |
K236R |
probably benign |
Het |
| Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
| Cry1 |
A |
T |
10: 84,982,456 (GRCm39) |
Y297N |
probably damaging |
Het |
| Defb38 |
A |
G |
8: 19,076,483 (GRCm39) |
|
probably null |
Het |
| Dlgap1 |
A |
G |
17: 70,823,780 (GRCm39) |
K255R |
probably damaging |
Het |
| Erich6 |
T |
C |
3: 58,544,125 (GRCm39) |
E154G |
probably benign |
Het |
| Esf1 |
G |
A |
2: 140,000,476 (GRCm39) |
P437S |
probably benign |
Het |
| Fkbp7 |
A |
C |
2: 76,493,601 (GRCm39) |
N197K |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,789,006 (GRCm39) |
D342E |
probably benign |
Het |
| Gbx1 |
T |
C |
5: 24,731,213 (GRCm39) |
D201G |
probably benign |
Het |
| Gm15056 |
T |
A |
8: 21,390,957 (GRCm39) |
K25N |
possibly damaging |
Het |
| Grb7 |
T |
G |
11: 98,345,391 (GRCm39) |
|
probably benign |
Het |
| H2-M3 |
C |
T |
17: 37,582,021 (GRCm39) |
A159V |
probably damaging |
Het |
| Hcar1 |
T |
C |
5: 124,016,683 (GRCm39) |
N336S |
probably benign |
Het |
| Ift122 |
T |
C |
6: 115,890,882 (GRCm39) |
V807A |
probably benign |
Het |
| Maml2 |
T |
C |
9: 13,532,364 (GRCm39) |
V526A |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
| Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
| Mras |
T |
C |
9: 99,293,469 (GRCm39) |
D57G |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,367,512 (GRCm39) |
C2274R |
possibly damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,186 (GRCm39) |
Y278F |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
| Ros1 |
G |
A |
10: 51,996,974 (GRCm39) |
H1233Y |
possibly damaging |
Het |
| Samd8 |
A |
G |
14: 21,830,248 (GRCm39) |
R225G |
probably null |
Het |
| Slc7a11 |
C |
A |
3: 50,382,223 (GRCm39) |
V175L |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,182,925 (GRCm39) |
T156A |
possibly damaging |
Het |
| Spata31g1 |
C |
T |
4: 42,971,534 (GRCm39) |
T289I |
probably damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,283 (GRCm39) |
N170D |
possibly damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,665,060 (GRCm39) |
|
probably benign |
Het |
| Tec |
T |
A |
5: 72,980,942 (GRCm39) |
|
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,284,514 (GRCm39) |
W728R |
possibly damaging |
Het |
| Xirp1 |
T |
C |
9: 119,846,810 (GRCm39) |
E691G |
probably damaging |
Het |
| Zfp605 |
T |
C |
5: 110,275,604 (GRCm39) |
S241P |
probably damaging |
Het |
| Zfp839 |
G |
A |
12: 110,832,765 (GRCm39) |
G561D |
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 |
|
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 |
|
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'- CAGGACTCACACAGGCTATTG -3'
(R):5'- AGACAGGAGATCTACGCCATAG -3'
Sequencing Primer
(F):5'- CGGAAGTTGACATCAGGATCTTCC -3'
(R):5'- GCCATAGATTCCCCCAGACTCTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation