Incidental Mutation 'R1341:Cep126'
| ID |
157049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep126
|
| Ensembl Gene |
ENSMUSG00000040729 |
| Gene Name |
centrosomal protein 126 |
| Synonyms |
AK129341 |
| MMRRC Submission |
039406-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1341 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 8099777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 919
(P919Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
| AlphaFold |
Q0VBV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037397
AA Change: P919Q
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: P919Q
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.9%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0e2 |
A |
G |
6: 48,517,045 (GRCm39) |
Y75C |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,096,393 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,324,582 (GRCm39) |
L1190P |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,757,586 (GRCm39) |
D15G |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,131 (GRCm39) |
T665S |
probably damaging |
Het |
| Chchd6 |
A |
G |
6: 89,361,623 (GRCm39) |
V260A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,196,514 (GRCm39) |
K867E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,168,602 (GRCm39) |
N440K |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm17421 |
A |
T |
12: 113,333,334 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc13 |
T |
C |
13: 21,900,280 (GRCm39) |
K12E |
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,087,766 (GRCm39) |
V36A |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Itga10 |
G |
A |
3: 96,559,811 (GRCm39) |
E489K |
probably damaging |
Het |
| Mgat5b |
A |
C |
11: 116,869,223 (GRCm39) |
I589L |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,232,601 (GRCm39) |
N348S |
probably benign |
Het |
| Mmp15 |
A |
G |
8: 96,098,931 (GRCm39) |
D586G |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,247 (GRCm39) |
D139G |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,630,216 (GRCm39) |
L471I |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,536,303 (GRCm39) |
|
probably benign |
Het |
| Mylip |
T |
A |
13: 45,559,412 (GRCm39) |
S105T |
probably damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,406 (GRCm39) |
L39Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,920,198 (GRCm39) |
|
probably benign |
Het |
| Or10ak13 |
T |
C |
4: 118,639,579 (GRCm39) |
T68A |
probably benign |
Het |
| Or11m3 |
G |
A |
15: 98,396,135 (GRCm39) |
V261M |
possibly damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,589 (GRCm39) |
V272D |
possibly damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,507 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or9k2 |
G |
T |
10: 129,999,185 (GRCm39) |
D3E |
probably benign |
Het |
| Pramel29 |
T |
C |
4: 143,934,129 (GRCm39) |
D326G |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,633,388 (GRCm39) |
A1106E |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,448,537 (GRCm39) |
S363P |
probably damaging |
Het |
| Skint10 |
A |
G |
4: 112,622,228 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,196,711 (GRCm39) |
N3595D |
possibly damaging |
Het |
| Swsap1 |
A |
G |
9: 21,868,450 (GRCm39) |
K241E |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,044,315 (GRCm39) |
T448A |
possibly damaging |
Het |
| Tktl1 |
G |
T |
X: 73,241,289 (GRCm39) |
G302V |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,912,331 (GRCm39) |
T1017A |
probably benign |
Het |
| Vmn2r78 |
T |
A |
7: 86,571,477 (GRCm39) |
M429K |
possibly damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,640 (GRCm39) |
F356I |
probably damaging |
Het |
| Wnt1 |
T |
C |
15: 98,689,764 (GRCm39) |
F184L |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,759,445 (GRCm39) |
I36T |
unknown |
Het |
| Zbtb39 |
A |
G |
10: 127,579,369 (GRCm39) |
I648V |
possibly damaging |
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 |
|
|
IGL02065:Cep126
|
APN |
9 |
8,099,925 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAGGACATAAATGATCTCAGCAGAA -3'
(R):5'- TGAGTCCAGCTCTACCAACTCCTTAC -3'
Sequencing Primer
(F):5'- ggctaacaagaatctgtaactcaag -3'
(R):5'- ACTCTTCTGAGTGCCAAACC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation