Incidental Mutation 'IGL02612:Cep89'
ID |
300539 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cep89
|
Ensembl Gene |
ENSMUSG00000023072 |
Gene Name |
centrosomal protein 89 |
Synonyms |
Ccdc123, 2610507L03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
IGL02612
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 35124080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
[ENSMUST00000206230]
|
AlphaFold |
Q9CZX2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000079414
|
SMART Domains |
Protein: ENSMUSP00000078383 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 |
coiled coil region
|
670 |
732 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140418
|
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 |
noncoding transcript
Transcript: ENSMUST00000148166
|
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 |
noncoding transcript
Transcript: ENSMUST00000152020
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206230
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(5) : Gene trapped(5) |
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,654,971 (GRCm39) |
M1432L |
probably benign |
Het |
Alg11 |
A |
G |
8: 22,551,999 (GRCm39) |
R48G |
probably benign |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Bmp4 |
T |
A |
14: 46,621,938 (GRCm39) |
D202V |
probably damaging |
Het |
Car12 |
T |
G |
9: 66,669,706 (GRCm39) |
L300R |
probably damaging |
Het |
Cdc37l1 |
T |
A |
19: 28,993,502 (GRCm39) |
*336R |
probably null |
Het |
Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,445,033 (GRCm39) |
D338G |
probably damaging |
Het |
Crot |
A |
G |
5: 9,019,945 (GRCm39) |
C466R |
probably damaging |
Het |
Dach2 |
T |
C |
X: 112,660,101 (GRCm39) |
M194T |
probably benign |
Het |
Dmrtc1b |
A |
G |
X: 101,756,873 (GRCm39) |
D100G |
probably benign |
Het |
Epm2a |
G |
A |
10: 11,332,980 (GRCm39) |
R271H |
probably damaging |
Het |
Fem1c |
G |
T |
18: 46,638,781 (GRCm39) |
T407K |
probably benign |
Het |
Fer1l4 |
T |
C |
2: 155,889,848 (GRCm39) |
Y273C |
probably damaging |
Het |
Foxc2 |
C |
A |
8: 121,844,576 (GRCm39) |
A408E |
probably benign |
Het |
Gbp10 |
A |
T |
5: 105,366,368 (GRCm39) |
M512K |
possibly damaging |
Het |
Gm5134 |
T |
C |
10: 75,828,323 (GRCm39) |
L301P |
probably damaging |
Het |
Grk3 |
A |
T |
5: 113,117,100 (GRCm39) |
D100E |
probably benign |
Het |
Gsdma3 |
T |
A |
11: 98,526,707 (GRCm39) |
D322E |
probably damaging |
Het |
Gucy1a2 |
C |
A |
9: 3,894,556 (GRCm39) |
L680I |
possibly damaging |
Het |
Ighv7-2 |
T |
C |
12: 113,875,766 (GRCm39) |
Y79C |
probably damaging |
Het |
Igkv4-50 |
T |
C |
6: 69,678,024 (GRCm39) |
T27A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,106,404 (GRCm39) |
D1002G |
probably damaging |
Het |
Map4k5 |
T |
A |
12: 69,896,358 (GRCm39) |
I169F |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,488,052 (GRCm39) |
V39A |
probably damaging |
Het |
Mms22l |
T |
A |
4: 24,508,482 (GRCm39) |
H301Q |
probably benign |
Het |
Myh4 |
C |
T |
11: 67,147,305 (GRCm39) |
T1650I |
probably benign |
Het |
Or52n4 |
A |
T |
7: 104,293,870 (GRCm39) |
D234E |
probably benign |
Het |
Or8b37 |
T |
A |
9: 37,958,662 (GRCm39) |
L48Q |
probably damaging |
Het |
Or8b44 |
T |
C |
9: 38,410,769 (GRCm39) |
M268T |
probably benign |
Het |
Pate10 |
T |
C |
9: 35,653,460 (GRCm39) |
I88T |
possibly damaging |
Het |
Pbxip1 |
C |
T |
3: 89,350,988 (GRCm39) |
T117M |
probably damaging |
Het |
Pgghg |
C |
T |
7: 140,526,251 (GRCm39) |
T572M |
probably damaging |
Het |
Phactr2 |
G |
A |
10: 13,121,167 (GRCm39) |
T511I |
probably damaging |
Het |
Pip5k1a |
T |
C |
3: 94,974,724 (GRCm39) |
I385V |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,018,828 (GRCm39) |
C60R |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Rttn |
G |
T |
18: 88,991,750 (GRCm39) |
D110Y |
probably damaging |
Het |
Setbp1 |
G |
T |
18: 78,798,925 (GRCm39) |
H1418Q |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,569,608 (GRCm39) |
I37V |
probably benign |
Het |
Slc27a6 |
A |
T |
18: 58,689,977 (GRCm39) |
I148F |
probably benign |
Het |
Slmap |
A |
G |
14: 26,180,621 (GRCm39) |
|
probably benign |
Het |
Speer4a3 |
A |
C |
5: 26,156,614 (GRCm39) |
Y122D |
probably benign |
Het |
Stil |
A |
G |
4: 114,880,893 (GRCm39) |
Q479R |
possibly damaging |
Het |
Svop |
A |
G |
5: 114,166,321 (GRCm39) |
*549Q |
probably null |
Het |
Tnks |
C |
T |
8: 35,316,453 (GRCm39) |
V889I |
possibly damaging |
Het |
Tnrc6c |
T |
A |
11: 117,633,826 (GRCm39) |
V1308E |
possibly damaging |
Het |
Vmn1r208 |
C |
A |
13: 22,956,993 (GRCm39) |
C168F |
probably damaging |
Het |
Vmn2r117 |
A |
T |
17: 23,678,758 (GRCm39) |
M822K |
possibly damaging |
Het |
Vwa8 |
A |
G |
14: 79,420,552 (GRCm39) |
N1751S |
probably benign |
Het |
Vwde |
A |
T |
6: 13,187,148 (GRCm39) |
F780I |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,197,577 (GRCm39) |
I184T |
possibly damaging |
Het |
Wdr26 |
A |
T |
1: 181,005,361 (GRCm39) |
|
probably benign |
Het |
Zfp608 |
G |
A |
18: 55,031,273 (GRCm39) |
T889M |
probably damaging |
Het |
Zfp955a |
G |
T |
17: 33,463,039 (GRCm39) |
Q31K |
probably damaging |
Het |
Zpbp2 |
T |
C |
11: 98,446,343 (GRCm39) |
L145S |
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 |
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 |
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 |
|
|
Posted On |
2015-04-16 |