Incidental Mutation 'IGL02468:Cep89'
| ID |
294610 |
| 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: 0.167)
|
| Stock # |
IGL02468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
35096460-35138114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 35102577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 97
(S97A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079414]
[ENSMUST00000141704]
[ENSMUST00000206854]
|
| AlphaFold |
Q9CZX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079414
AA Change: S97A
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072
AA Change: S97A
| 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: ENSMUST00000125041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141704
AA Change: S97A
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072
AA Change: S97A
| 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 |
probably benign
Transcript: ENSMUST00000206854
|
| Meta Mutation Damage Score |
0.0773 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,596,116 (GRCm39) |
D73E |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,688 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Clec16a |
T |
A |
16: 10,559,742 (GRCm39) |
I1005N |
probably benign |
Het |
| Cog5 |
T |
C |
12: 31,887,357 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,809,898 (GRCm39) |
S1217P |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,024,025 (GRCm39) |
M265K |
probably benign |
Het |
| Ddx60 |
T |
G |
8: 62,411,676 (GRCm39) |
S509R |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,195 (GRCm39) |
S3616P |
probably benign |
Het |
| Galnt9 |
T |
C |
5: 110,762,089 (GRCm39) |
F409S |
possibly damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,828 (GRCm39) |
V268A |
probably benign |
Het |
| Ifi47 |
T |
A |
11: 48,986,810 (GRCm39) |
S192R |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,034,114 (GRCm39) |
Y596H |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,364,348 (GRCm39) |
C1096R |
probably damaging |
Het |
| Marchf1 |
A |
G |
8: 66,871,563 (GRCm39) |
Q109R |
probably damaging |
Het |
| Or2y1d |
A |
T |
11: 49,321,941 (GRCm39) |
I213F |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,574 (GRCm39) |
L201P |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,408,473 (GRCm39) |
C143F |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,909,574 (GRCm39) |
V500D |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,589 (GRCm39) |
L57H |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,231 (GRCm39) |
V394A |
probably benign |
Het |
| Pogz |
A |
G |
3: 94,786,394 (GRCm39) |
N994S |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,187,040 (GRCm39) |
M406L |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,387 (GRCm39) |
S323G |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,121,504 (GRCm39) |
T854A |
probably benign |
Het |
| Puf60 |
A |
C |
15: 75,947,685 (GRCm39) |
|
probably benign |
Het |
| Six2 |
C |
T |
17: 85,992,931 (GRCm39) |
E191K |
possibly damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,497,753 (GRCm39) |
F40L |
probably benign |
Het |
| Tektip1 |
G |
T |
10: 81,201,563 (GRCm39) |
L20I |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,318,170 (GRCm39) |
V1600A |
probably damaging |
Het |
| Tm4sf19 |
C |
A |
16: 32,226,533 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,334,824 (GRCm39) |
T33A |
probably benign |
Het |
| Troap |
A |
T |
15: 98,973,242 (GRCm39) |
T3S |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,688,389 (GRCm39) |
I3074L |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
|
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 |
|
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 |
Incidental Mutation