Incidental Mutation 'IGL02043:Cep128'
| ID |
184860 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep128
|
| Ensembl Gene |
ENSMUSG00000061533 |
| Gene Name |
centrosomal protein 128 |
| Synonyms |
5430424K18Rik, 4930534B04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.286)
|
| Stock # |
IGL02043
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 91233504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141429]
[ENSMUST00000143415]
|
| AlphaFold |
Q8BI22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141429
|
| SMART Domains |
Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
110 |
N/A |
INTRINSIC |
|
coiled coil region
|
216 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
coiled coil region
|
377 |
822 |
N/A |
INTRINSIC |
|
coiled coil region
|
876 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143415
|
| SMART Domains |
Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
2 |
369 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
507 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
T |
C |
11: 69,496,102 (GRCm39) |
T33A |
probably benign |
Het |
| Brd2 |
A |
T |
17: 34,331,590 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,208,299 (GRCm39) |
|
probably benign |
Het |
| Cdh9 |
A |
T |
15: 16,856,318 (GRCm39) |
D786V |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,883,038 (GRCm39) |
T284A |
probably benign |
Het |
| Chrna1 |
C |
T |
2: 73,398,450 (GRCm39) |
E330K |
probably benign |
Het |
| Clec2l |
T |
C |
6: 38,653,785 (GRCm39) |
Y104H |
probably damaging |
Het |
| Clybl |
G |
T |
14: 122,616,664 (GRCm39) |
K226N |
probably damaging |
Het |
| Cmip |
T |
A |
8: 118,172,067 (GRCm39) |
D467E |
probably benign |
Het |
| Cpne3 |
A |
T |
4: 19,543,340 (GRCm39) |
|
probably null |
Het |
| Crisp4 |
A |
G |
1: 18,204,324 (GRCm39) |
V46A |
probably damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,116,070 (GRCm39) |
Y261H |
probably damaging |
Het |
| Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
| Czib |
T |
G |
4: 107,752,065 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
C |
2: 104,560,626 (GRCm39) |
T123A |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,547,661 (GRCm39) |
T384A |
probably damaging |
Het |
| F8 |
C |
T |
X: 74,376,247 (GRCm39) |
M377I |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,021,367 (GRCm39) |
|
probably null |
Het |
| Fez2 |
T |
C |
17: 78,689,051 (GRCm39) |
D366G |
probably damaging |
Het |
| Gm4841 |
A |
C |
18: 60,404,037 (GRCm39) |
S19A |
probably benign |
Het |
| Gm4862 |
T |
A |
3: 138,834,396 (GRCm39) |
|
noncoding transcript |
Het |
| Hk3 |
T |
A |
13: 55,162,908 (GRCm39) |
Q44L |
probably damaging |
Het |
| Irgm1 |
C |
A |
11: 48,757,642 (GRCm39) |
L56F |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,644,795 (GRCm39) |
T108A |
probably benign |
Het |
| Lgr4 |
T |
A |
2: 109,841,635 (GRCm39) |
M516K |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,587,537 (GRCm39) |
N3906S |
probably null |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,845 (GRCm39) |
N86D |
possibly damaging |
Het |
| Map3k2 |
A |
G |
18: 32,340,587 (GRCm39) |
D198G |
probably damaging |
Het |
| Mapkapk3 |
C |
T |
9: 107,139,621 (GRCm39) |
|
probably null |
Het |
| Mvp |
A |
T |
7: 126,592,790 (GRCm39) |
Y374N |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,404,776 (GRCm39) |
S711P |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,497,986 (GRCm39) |
K189E |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
| Nlrp10 |
T |
C |
7: 108,524,709 (GRCm39) |
E257G |
probably damaging |
Het |
| Nptn |
T |
G |
9: 58,548,012 (GRCm39) |
M139R |
possibly damaging |
Het |
| Nrk |
T |
G |
X: 137,889,544 (GRCm39) |
M1105R |
possibly damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,046 (GRCm39) |
C189* |
probably null |
Het |
| Or10d4 |
T |
G |
9: 39,580,374 (GRCm39) |
V7G |
probably damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,477 (GRCm39) |
Y218* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,248 (GRCm39) |
T403A |
probably benign |
Het |
| Pcyt1b |
A |
G |
X: 92,745,722 (GRCm39) |
E50G |
possibly damaging |
Het |
| Pigg |
C |
T |
5: 108,492,190 (GRCm39) |
T892I |
probably damaging |
Het |
| Ppig |
T |
G |
2: 69,566,327 (GRCm39) |
|
probably null |
Het |
| Prr12 |
A |
G |
7: 44,699,429 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
G |
T |
8: 71,345,073 (GRCm39) |
A78E |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,364,095 (GRCm39) |
M436R |
probably benign |
Het |
| Sp7 |
T |
A |
15: 102,267,690 (GRCm39) |
M39L |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,068,556 (GRCm39) |
S3077P |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,371 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
C |
T |
1: 180,800,353 (GRCm39) |
T714I |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,193,028 (GRCm39) |
L535P |
probably damaging |
Het |
| Tuba8 |
A |
C |
6: 121,197,470 (GRCm39) |
N44T |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,926,039 (GRCm39) |
|
probably benign |
Het |
| Zfp654 |
A |
T |
16: 64,605,391 (GRCm39) |
I396K |
probably benign |
Het |
|
| Other mutations in Cep128 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Cep128
|
APN |
12 |
91,200,965 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00800:Cep128
|
APN |
12 |
91,222,438 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01738:Cep128
|
APN |
12 |
91,197,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01844:Cep128
|
APN |
12 |
90,975,628 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01918:Cep128
|
APN |
12 |
91,200,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02405:Cep128
|
APN |
12 |
91,233,760 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02616:Cep128
|
APN |
12 |
91,263,032 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4260001:Cep128
|
UTSW |
12 |
91,265,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0416:Cep128
|
UTSW |
12 |
91,197,641 (GRCm39) |
splice site |
probably benign |
|
|
R0442:Cep128
|
UTSW |
12 |
91,233,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Cep128
|
UTSW |
12 |
90,966,309 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1108:Cep128
|
UTSW |
12 |
91,305,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1178:Cep128
|
UTSW |
12 |
91,226,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1183:Cep128
|
UTSW |
12 |
91,292,372 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1394:Cep128
|
UTSW |
12 |
91,233,754 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1395:Cep128
|
UTSW |
12 |
91,233,754 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1498:Cep128
|
UTSW |
12 |
91,333,191 (GRCm39) |
missense |
probably benign |
|
|
R1541:Cep128
|
UTSW |
12 |
91,315,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Cep128
|
UTSW |
12 |
91,333,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1643:Cep128
|
UTSW |
12 |
91,292,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Cep128
|
UTSW |
12 |
91,197,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1739:Cep128
|
UTSW |
12 |
90,989,265 (GRCm39) |
splice site |
probably null |
|
|
R1758:Cep128
|
UTSW |
12 |
91,314,352 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1845:Cep128
|
UTSW |
12 |
91,256,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1987:Cep128
|
UTSW |
12 |
91,197,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2017:Cep128
|
UTSW |
12 |
91,333,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2237:Cep128
|
UTSW |
12 |
91,314,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2239:Cep128
|
UTSW |
12 |
91,314,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3103:Cep128
|
UTSW |
12 |
90,986,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4552:Cep128
|
UTSW |
12 |
91,260,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4664:Cep128
|
UTSW |
12 |
91,263,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Cep128
|
UTSW |
12 |
91,200,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4838:Cep128
|
UTSW |
12 |
90,966,319 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4858:Cep128
|
UTSW |
12 |
91,226,936 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4924:Cep128
|
UTSW |
12 |
90,989,174 (GRCm39) |
splice site |
silent |
|
|
R5002:Cep128
|
UTSW |
12 |
91,222,497 (GRCm39) |
splice site |
probably null |
|
|
R5282:Cep128
|
UTSW |
12 |
91,305,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Cep128
|
UTSW |
12 |
90,966,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5476:Cep128
|
UTSW |
12 |
91,180,392 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5643:Cep128
|
UTSW |
12 |
91,315,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Cep128
|
UTSW |
12 |
91,315,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Cep128
|
UTSW |
12 |
90,966,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6057:Cep128
|
UTSW |
12 |
91,262,998 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6831:Cep128
|
UTSW |
12 |
91,233,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6852:Cep128
|
UTSW |
12 |
91,333,116 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7078:Cep128
|
UTSW |
12 |
91,200,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7144:Cep128
|
UTSW |
12 |
91,260,933 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7487:Cep128
|
UTSW |
12 |
90,966,404 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7582:Cep128
|
UTSW |
12 |
91,314,340 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7713:Cep128
|
UTSW |
12 |
90,986,096 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8245:Cep128
|
UTSW |
12 |
90,966,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8893:Cep128
|
UTSW |
12 |
91,263,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Cep128
|
UTSW |
12 |
91,331,221 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8935:Cep128
|
UTSW |
12 |
91,233,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8991:Cep128
|
UTSW |
12 |
91,200,987 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9168:Cep128
|
UTSW |
12 |
91,233,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cep128
|
UTSW |
12 |
91,331,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cep128
|
UTSW |
12 |
91,256,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2014-05-07 |
Incidental Mutation