Incidental Mutation 'R8858:Cep126'
| ID |
675468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep126
|
| Ensembl Gene |
ENSMUSG00000040729 |
| Gene Name |
centrosomal protein 126 |
| Synonyms |
AK129341 |
| MMRRC Submission |
068738-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8130270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 54
(M54V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
| AlphaFold |
Q0VBV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037397
AA Change: M54V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: M54V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,638,338 (GRCm39) |
Q91R |
probably benign |
Het |
| Abca16 |
G |
T |
7: 120,052,327 (GRCm39) |
C465F |
probably benign |
Het |
| Amfr |
A |
G |
8: 94,714,070 (GRCm39) |
Y254H |
probably damaging |
Het |
| Arl6ip6 |
A |
G |
2: 53,093,018 (GRCm39) |
E181G |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,465,971 (GRCm39) |
E1066G |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,101,964 (GRCm39) |
V100A |
probably benign |
Het |
| Ciao2a |
T |
C |
9: 66,039,824 (GRCm39) |
I47T |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,120,318 (GRCm39) |
V1829A |
probably benign |
Het |
| Cyp2c54 |
G |
A |
19: 40,062,227 (GRCm39) |
T10I |
probably benign |
Het |
| Dennd11 |
T |
C |
6: 40,399,669 (GRCm39) |
N173S |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,977,781 (GRCm39) |
Y799C |
probably damaging |
Het |
| Dnajc17 |
T |
C |
2: 119,011,445 (GRCm39) |
T162A |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,666,339 (GRCm39) |
E695G |
possibly damaging |
Het |
| Gadl1 |
A |
T |
9: 115,835,669 (GRCm39) |
S366C |
probably damaging |
Het |
| Gbp11 |
C |
A |
5: 105,473,392 (GRCm39) |
E454* |
probably null |
Het |
| Gm32742 |
T |
A |
9: 51,062,256 (GRCm39) |
T691S |
probably benign |
Het |
| Gsdma3 |
C |
A |
11: 98,520,695 (GRCm39) |
Q109K |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,548,576 (GRCm39) |
V482E |
probably damaging |
Het |
| Ighv1-23 |
T |
A |
12: 114,728,083 (GRCm39) |
Y113F |
probably benign |
Het |
| Lactb |
G |
T |
9: 66,863,182 (GRCm39) |
Y477* |
probably null |
Het |
| Lgr6 |
T |
C |
1: 134,923,849 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,560,827 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
A |
C |
17: 12,490,759 (GRCm39) |
L224R |
probably damaging |
Het |
| Mex3d |
A |
T |
10: 80,217,217 (GRCm39) |
C667S |
unknown |
Het |
| Myh8 |
A |
G |
11: 67,192,820 (GRCm39) |
E1537G |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,091,965 (GRCm39) |
S1205P |
probably damaging |
Het |
| Nfic |
A |
T |
10: 81,262,965 (GRCm39) |
|
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,644,554 (GRCm39) |
|
probably benign |
Het |
| Or2aj6 |
A |
G |
16: 19,443,109 (GRCm39) |
V247A |
probably damaging |
Het |
| Or4f54 |
G |
A |
2: 111,123,503 (GRCm39) |
V297M |
probably benign |
Het |
| Orc2 |
A |
T |
1: 58,532,857 (GRCm39) |
D127E |
probably benign |
Het |
| Ppp2r5c |
T |
A |
12: 110,519,329 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
A |
G |
1: 34,502,196 (GRCm39) |
T71A |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,526,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
C |
A |
2: 146,102,285 (GRCm39) |
|
probably null |
Het |
| Rnase9 |
G |
A |
14: 51,276,766 (GRCm39) |
P71S |
|
Het |
| Ryr1 |
A |
G |
7: 28,808,638 (GRCm39) |
L485P |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,118,302 (GRCm39) |
D476G |
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,438,850 (GRCm39) |
Y170C |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,423 (GRCm39) |
S354P |
probably benign |
Het |
| St8sia5 |
C |
T |
18: 77,320,511 (GRCm39) |
P88S |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 78,854,497 (GRCm39) |
|
probably null |
Het |
| Tnfrsf13b |
A |
G |
11: 61,038,363 (GRCm39) |
I215M |
possibly damaging |
Het |
| Unc13d |
G |
T |
11: 115,953,618 (GRCm39) |
L1052M |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,466,833 (GRCm39) |
D260G |
probably benign |
Het |
| Wdr77 |
T |
C |
3: 105,868,978 (GRCm39) |
V116A |
probably damaging |
Het |
| Zfp560 |
A |
G |
9: 20,260,403 (GRCm39) |
I153T |
probably benign |
Het |
| Zfp672 |
G |
A |
11: 58,208,145 (GRCm39) |
R59C |
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 |
|
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 |
|
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'- ATAGACTTGGTCCTTTAGGCAG -3'
(R):5'- ACACGGATTAGCTGTCCCAC -3'
Sequencing Primer
(F):5'- GTGGTCATGACTCAAGTAC -3'
(R):5'- TGTCCCACAAGAGCCTTATGATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation