Incidental Mutation 'IGL02065:Cep126'
| ID |
185596 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep126
|
| Ensembl Gene |
ENSMUSG00000040729 |
| Gene Name |
centrosomal protein 126 |
| Synonyms |
AK129341 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8099925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 870
(S870P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
| AlphaFold |
Q0VBV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037397
AA Change: S870P
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: S870P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
Pfam:K1377
|
100 |
1061 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214150
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
T |
17: 46,623,827 (GRCm39) |
E770K |
possibly damaging |
Het |
| Abhd17a |
C |
A |
10: 80,422,395 (GRCm39) |
A22S |
probably benign |
Het |
| Actbl2 |
A |
G |
13: 111,392,225 (GRCm39) |
T187A |
probably benign |
Het |
| Adgrl3 |
G |
A |
5: 81,660,064 (GRCm39) |
G278R |
probably damaging |
Het |
| Apoh |
C |
A |
11: 108,305,131 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,828 (GRCm39) |
F192S |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,268,754 (GRCm39) |
I163T |
possibly damaging |
Het |
| Bmp1 |
G |
T |
14: 70,723,660 (GRCm39) |
N725K |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,727,547 (GRCm39) |
I679F |
probably damaging |
Het |
| Bmp2 |
T |
A |
2: 133,402,844 (GRCm39) |
F132I |
probably benign |
Het |
| Bpifb5 |
T |
C |
2: 154,069,103 (GRCm39) |
L140P |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,279 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,764,586 (GRCm39) |
T730A |
possibly damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,342 (GRCm39) |
K647N |
probably damaging |
Het |
| Cdh17 |
A |
C |
4: 11,771,373 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,954,302 (GRCm39) |
T346A |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,530,024 (GRCm39) |
V2592G |
probably damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,504,244 (GRCm39) |
F239I |
probably damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| F5 |
G |
A |
1: 164,017,695 (GRCm39) |
V591M |
probably damaging |
Het |
| Fchsd2 |
T |
G |
7: 100,826,429 (GRCm39) |
|
probably null |
Het |
| Flad1 |
A |
T |
3: 89,316,294 (GRCm39) |
D89E |
probably damaging |
Het |
| Fsd1 |
C |
A |
17: 56,303,499 (GRCm39) |
P457Q |
probably damaging |
Het |
| Gm21985 |
A |
G |
2: 112,187,929 (GRCm39) |
D1012G |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,764,517 (GRCm39) |
D366G |
probably null |
Het |
| Hadha |
A |
G |
5: 30,347,843 (GRCm39) |
|
probably benign |
Het |
| Kdr |
A |
G |
5: 76,122,513 (GRCm39) |
|
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,426,136 (GRCm39) |
K24R |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,397 (GRCm39) |
D661G |
probably benign |
Het |
| Mical1 |
A |
T |
10: 41,360,407 (GRCm39) |
K615N |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,310,435 (GRCm39) |
K204E |
possibly damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,346 (GRCm39) |
I32F |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,963,492 (GRCm39) |
D175G |
possibly damaging |
Het |
| Or10ak8 |
G |
A |
4: 118,773,968 (GRCm39) |
T232I |
probably benign |
Het |
| Or12j5 |
T |
C |
7: 140,084,077 (GRCm39) |
I98M |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,587,143 (GRCm39) |
F4713L |
possibly damaging |
Het |
| Serpinb1b |
G |
A |
13: 33,275,301 (GRCm39) |
G142D |
possibly damaging |
Het |
| Slc10a1 |
A |
G |
12: 81,007,248 (GRCm39) |
S178P |
possibly damaging |
Het |
| Spint1 |
G |
A |
2: 119,068,698 (GRCm39) |
R144H |
probably benign |
Het |
| Sult6b1 |
C |
T |
17: 79,196,504 (GRCm39) |
G213R |
probably damaging |
Het |
| Themis3 |
G |
T |
17: 66,862,900 (GRCm39) |
H353N |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,289,525 (GRCm39) |
S619P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,645,134 (GRCm39) |
V11161E |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,987,314 (GRCm39) |
V837I |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,880,670 (GRCm39) |
V677A |
probably benign |
Het |
| Wdr62 |
A |
G |
7: 29,942,894 (GRCm39) |
V1001A |
possibly damaging |
Het |
| Whrn |
A |
T |
4: 63,336,822 (GRCm39) |
I580N |
possibly damaging |
Het |
| Wls |
T |
A |
3: 159,616,993 (GRCm39) |
V344D |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,385,222 (GRCm39) |
Y5070* |
probably null |
Het |
|
| Other mutations in Cep126 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01633:Cep126
|
APN |
9 |
8,103,320 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01967:Cep126
|
APN |
9 |
8,095,209 (GRCm39) |
splice site |
probably null |
|
|
IGL03215:Cep126
|
APN |
9 |
8,100,531 (GRCm39) |
nonsense |
probably null |
|
|
R0064:Cep126
|
UTSW |
9 |
8,130,183 (GRCm39) |
splice site |
probably benign |
|
|
R0064:Cep126
|
UTSW |
9 |
8,130,183 (GRCm39) |
splice site |
probably benign |
|
|
R0184:Cep126
|
UTSW |
9 |
8,103,396 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0835:Cep126
|
UTSW |
9 |
8,130,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0980:Cep126
|
UTSW |
9 |
8,100,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1288:Cep126
|
UTSW |
9 |
8,112,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1341:Cep126
|
UTSW |
9 |
8,099,777 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1351:Cep126
|
UTSW |
9 |
8,100,087 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1484:Cep126
|
UTSW |
9 |
8,100,554 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1707:Cep126
|
UTSW |
9 |
8,100,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1732:Cep126
|
UTSW |
9 |
8,099,762 (GRCm39) |
missense |
probably benign |
|
|
R1903:Cep126
|
UTSW |
9 |
8,120,748 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1968:Cep126
|
UTSW |
9 |
8,100,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2216:Cep126
|
UTSW |
9 |
8,120,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2260:Cep126
|
UTSW |
9 |
8,101,749 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2444:Cep126
|
UTSW |
9 |
8,101,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4208:Cep126
|
UTSW |
9 |
8,100,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Cep126
|
UTSW |
9 |
8,101,589 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4585:Cep126
|
UTSW |
9 |
8,103,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5547:Cep126
|
UTSW |
9 |
8,100,428 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5752:Cep126
|
UTSW |
9 |
8,120,746 (GRCm39) |
nonsense |
probably null |
|
|
R5794:Cep126
|
UTSW |
9 |
8,103,440 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5932:Cep126
|
UTSW |
9 |
8,103,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Cep126
|
UTSW |
9 |
8,112,120 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6354:Cep126
|
UTSW |
9 |
8,099,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6442:Cep126
|
UTSW |
9 |
8,100,564 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6964:Cep126
|
UTSW |
9 |
8,112,101 (GRCm39) |
missense |
probably null |
0.99 |
|
R7134:Cep126
|
UTSW |
9 |
8,103,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Cep126
|
UTSW |
9 |
8,087,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7221:Cep126
|
UTSW |
9 |
8,100,988 (GRCm39) |
nonsense |
probably null |
|
|
R7338:Cep126
|
UTSW |
9 |
8,099,799 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7345:Cep126
|
UTSW |
9 |
8,099,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Cep126
|
UTSW |
9 |
8,101,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Cep126
|
UTSW |
9 |
8,120,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Cep126
|
UTSW |
9 |
8,120,764 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8150:Cep126
|
UTSW |
9 |
8,101,791 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8204:Cep126
|
UTSW |
9 |
8,120,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Cep126
|
UTSW |
9 |
8,087,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Cep126
|
UTSW |
9 |
8,130,270 (GRCm39) |
missense |
probably benign |
|
|
R9064:Cep126
|
UTSW |
9 |
8,103,341 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9355:Cep126
|
UTSW |
9 |
8,100,038 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
X0060:Cep126
|
UTSW |
9 |
8,087,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation