Incidental Mutation 'R4208:Cep126'
| ID |
319031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep126
|
| Ensembl Gene |
ENSMUSG00000040729 |
| Gene Name |
centrosomal protein 126 |
| Synonyms |
AK129341 |
| MMRRC Submission |
041037-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8100822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 571
(E571K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
| AlphaFold |
Q0VBV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037397
AA Change: E571K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: E571K
| 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 |
0.1354 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,910,060 (GRCm39) |
L284P |
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
| Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,071,840 (GRCm39) |
H128R |
probably benign |
Het |
| Aoc1l2 |
A |
T |
6: 48,908,581 (GRCm39) |
D527V |
probably damaging |
Het |
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,192,063 (GRCm39) |
S557P |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Casp12 |
T |
C |
9: 5,346,629 (GRCm39) |
L52P |
probably damaging |
Het |
| Cfhr1 |
A |
G |
1: 139,475,616 (GRCm39) |
|
probably benign |
Het |
| Cmah |
A |
G |
13: 24,601,410 (GRCm39) |
|
probably null |
Het |
| Col10a1 |
C |
T |
10: 34,271,539 (GRCm39) |
P504S |
probably damaging |
Het |
| Ctnna3 |
T |
A |
10: 64,795,557 (GRCm39) |
D758E |
probably benign |
Het |
| Cyp2c65 |
T |
C |
19: 39,079,099 (GRCm39) |
S393P |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
| Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
| F13b |
G |
T |
1: 139,444,079 (GRCm39) |
W471L |
probably damaging |
Het |
| Fam181a |
A |
G |
12: 103,282,173 (GRCm39) |
D26G |
probably damaging |
Het |
| Gabpb2 |
A |
G |
3: 95,111,245 (GRCm39) |
|
probably benign |
Het |
| Gm7293 |
A |
G |
9: 51,534,879 (GRCm39) |
|
noncoding transcript |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,362,768 (GRCm39) |
E557G |
probably benign |
Het |
| Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
| Lsr |
A |
G |
7: 30,672,519 (GRCm39) |
I27T |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
| Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,426 (GRCm39) |
T571A |
probably benign |
Het |
| Or4c1 |
A |
T |
2: 89,133,270 (GRCm39) |
I222N |
probably damaging |
Het |
| Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
| Padi1 |
C |
A |
4: 140,544,538 (GRCm39) |
V552L |
possibly damaging |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| RP24-126A19.1 |
C |
A |
5: 146,832,606 (GRCm39) |
R123L |
noncoding transcript |
Het |
| Scn10a |
T |
A |
9: 119,445,842 (GRCm39) |
E1438V |
probably damaging |
Het |
| Sfmbt2 |
T |
A |
2: 10,547,793 (GRCm39) |
D458E |
probably damaging |
Het |
| Slitrk3 |
T |
A |
3: 72,958,490 (GRCm39) |
Y94F |
possibly damaging |
Het |
| Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Trbv23 |
A |
T |
6: 41,193,022 (GRCm39) |
I6F |
probably benign |
Het |
| Vmn1r87 |
A |
G |
7: 12,866,185 (GRCm39) |
V34A |
probably benign |
Het |
| Zc3h7a |
C |
T |
16: 10,982,508 (GRCm39) |
E6K |
possibly damaging |
Het |
| Zfp606 |
G |
A |
7: 12,228,102 (GRCm39) |
C683Y |
probably 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 |
|
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'- TAACCACCGTGGAGCCATTC -3'
(R):5'- GACCACCTGTGCACTTCAAAATTC -3'
Sequencing Primer
(F):5'- ACTGGGTGGCAATCATCTAC -3'
(R):5'- CCTGTGCACTTCAAAATTCTAATTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation