Incidental Mutation 'IGL02616:Cep128'
| ID |
300665 |
| 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: 0.267)
|
| Stock # |
IGL02616
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91263032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 289
(I289T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141429]
|
| AlphaFold |
Q8BI22 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141429
AA Change: I289T
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: I289T
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,138,644 (GRCm39) |
R190G |
probably benign |
Het |
| 4931406B18Rik |
T |
C |
7: 43,150,437 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,020,971 (GRCm39) |
|
probably null |
Het |
| Ahnak |
C |
A |
19: 8,982,991 (GRCm39) |
P1425Q |
probably benign |
Het |
| Arih1 |
A |
G |
9: 59,319,759 (GRCm39) |
V285A |
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 70,257,963 (GRCm39) |
V906A |
probably benign |
Het |
| Atp2a2 |
A |
T |
5: 122,599,747 (GRCm39) |
I548N |
probably benign |
Het |
| C2cd5 |
A |
T |
6: 142,980,837 (GRCm39) |
S643T |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,624,285 (GRCm39) |
D210G |
probably damaging |
Het |
| Ces1c |
C |
T |
8: 93,833,243 (GRCm39) |
M407I |
probably benign |
Het |
| Cntln |
T |
G |
4: 85,033,689 (GRCm39) |
|
probably null |
Het |
| Cypt12 |
T |
A |
3: 18,002,892 (GRCm39) |
H88Q |
possibly damaging |
Het |
| Ddc |
T |
A |
11: 11,830,645 (GRCm39) |
|
probably benign |
Het |
| Dnajb12 |
T |
C |
10: 59,728,685 (GRCm39) |
|
probably null |
Het |
| Gata2 |
A |
G |
6: 88,182,462 (GRCm39) |
T477A |
possibly damaging |
Het |
| Gckr |
A |
G |
5: 31,484,419 (GRCm39) |
D619G |
probably benign |
Het |
| Gm5699 |
A |
T |
1: 31,037,432 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8257 |
T |
A |
14: 44,892,683 (GRCm39) |
S106C |
probably damaging |
Het |
| Gpr15 |
A |
C |
16: 58,538,567 (GRCm39) |
L174R |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,855,264 (GRCm39) |
H7L |
possibly damaging |
Het |
| Ide |
A |
T |
19: 37,275,455 (GRCm39) |
I518N |
unknown |
Het |
| Igdcc4 |
G |
A |
9: 65,040,360 (GRCm39) |
G957D |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,226,027 (GRCm39) |
P2549S |
probably benign |
Het |
| Kcnj9 |
A |
G |
1: 172,153,531 (GRCm39) |
S198P |
probably damaging |
Het |
| Lclat1 |
T |
C |
17: 73,476,528 (GRCm39) |
I45T |
probably benign |
Het |
| Met |
T |
C |
6: 17,553,346 (GRCm39) |
L1044S |
probably damaging |
Het |
| Msh4 |
T |
C |
3: 153,563,160 (GRCm39) |
T739A |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,419,988 (GRCm39) |
E776G |
probably benign |
Het |
| Ndufv3 |
G |
A |
17: 31,746,643 (GRCm39) |
V178M |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,488,409 (GRCm39) |
Y613C |
probably damaging |
Het |
| Nmbr |
T |
C |
10: 14,636,431 (GRCm39) |
|
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,452,676 (GRCm39) |
W184R |
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,579,407 (GRCm39) |
S850P |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
C |
11: 29,085,505 (GRCm39) |
|
probably benign |
Het |
| Pomt2 |
T |
A |
12: 87,171,636 (GRCm39) |
H378L |
probably damaging |
Het |
| Sh3gl3 |
C |
T |
7: 81,934,226 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,408,984 (GRCm39) |
N679K |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,019,850 (GRCm39) |
M572T |
probably benign |
Het |
| Twf2 |
C |
T |
9: 106,089,955 (GRCm39) |
Q103* |
probably null |
Het |
| Uncx |
T |
C |
5: 139,532,523 (GRCm39) |
I196T |
possibly damaging |
Het |
| Urgcp |
A |
G |
11: 5,667,400 (GRCm39) |
S313P |
probably damaging |
Het |
| Vmn1r222 |
A |
T |
13: 23,416,311 (GRCm39) |
C301S |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,031 (GRCm39) |
Q325L |
possibly damaging |
Het |
| Vps4a |
C |
T |
8: 107,768,909 (GRCm39) |
R236W |
probably damaging |
Het |
| Wdr19 |
T |
A |
5: 65,380,924 (GRCm39) |
H344Q |
probably damaging |
Het |
| Wiz |
A |
T |
17: 32,578,443 (GRCm39) |
D356E |
probably damaging |
Het |
| Zc3h10 |
T |
C |
10: 128,380,751 (GRCm39) |
E202G |
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 |
|
IGL02043:Cep128
|
APN |
12 |
91,233,504 (GRCm39) |
splice site |
probably benign |
|
|
IGL02405:Cep128
|
APN |
12 |
91,233,760 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
2015-04-16 |
Incidental Mutation