Incidental Mutation 'R7345:Cep126'
ID |
570149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep126
|
Ensembl Gene |
ENSMUSG00000040729 |
Gene Name |
centrosomal protein 126 |
Synonyms |
AK129341 |
MMRRC Submission |
045379-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7345 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8099817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 906
(S906P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
AlphaFold |
Q0VBV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037397
AA Change: S906P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042904 Gene: ENSMUSG00000040729 AA Change: S906P
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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anks3 |
A |
G |
16: 4,773,774 (GRCm39) |
M174T |
possibly damaging |
Het |
Arhgap23 |
G |
A |
11: 97,357,304 (GRCm39) |
R934Q |
possibly damaging |
Het |
Atad5 |
T |
C |
11: 79,986,832 (GRCm39) |
S640P |
probably damaging |
Het |
B3galnt2 |
C |
T |
13: 14,155,065 (GRCm39) |
|
probably null |
Het |
B430305J03Rik |
T |
C |
3: 61,271,539 (GRCm39) |
S69G |
unknown |
Het |
Cd163 |
A |
T |
6: 124,295,897 (GRCm39) |
N747I |
possibly damaging |
Het |
Cimip2b |
T |
C |
4: 43,428,022 (GRCm39) |
D145G |
possibly damaging |
Het |
Cyp4f39 |
G |
A |
17: 32,705,753 (GRCm39) |
G318R |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,059,129 (GRCm39) |
G257D |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,342,583 (GRCm39) |
L139P |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,511,895 (GRCm39) |
V840A |
probably benign |
Het |
Dnhd1 |
A |
T |
7: 105,353,174 (GRCm39) |
I2776L |
probably benign |
Het |
Fbxo24 |
G |
T |
5: 137,619,523 (GRCm39) |
F234L |
probably damaging |
Het |
Gm21190 |
T |
C |
5: 15,732,902 (GRCm39) |
|
probably null |
Het |
Grhl3 |
C |
T |
4: 135,273,557 (GRCm39) |
R565Q |
probably damaging |
Het |
Gtf3c1 |
A |
T |
7: 125,244,842 (GRCm39) |
Y1731N |
probably damaging |
Het |
Il1a |
C |
A |
2: 129,146,693 (GRCm39) |
R133S |
probably benign |
Het |
Ipo4 |
C |
T |
14: 55,872,988 (GRCm39) |
R23Q |
probably benign |
Het |
Klc3 |
G |
A |
7: 19,128,814 (GRCm39) |
T481M |
probably benign |
Het |
Map2k6 |
A |
T |
11: 110,383,734 (GRCm39) |
I127F |
|
Het |
Mapk8 |
A |
T |
14: 33,130,068 (GRCm39) |
N63K |
probably damaging |
Het |
Med13l |
T |
C |
5: 118,880,825 (GRCm39) |
W1306R |
probably damaging |
Het |
Megf6 |
C |
A |
4: 154,351,772 (GRCm39) |
Q1162K |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,841,095 (GRCm39) |
E992G |
possibly damaging |
Het |
Ndst4 |
C |
T |
3: 125,508,308 (GRCm39) |
T291M |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,955,503 (GRCm38) |
F838L |
probably benign |
Het |
Nrm |
A |
G |
17: 36,175,476 (GRCm39) |
H194R |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,230,613 (GRCm39) |
S1384P |
probably benign |
Het |
Olfml2a |
C |
A |
2: 38,850,139 (GRCm39) |
D618E |
probably damaging |
Het |
Or5p78 |
C |
T |
7: 108,212,270 (GRCm39) |
T252I |
probably benign |
Het |
Or8g23 |
A |
G |
9: 38,971,875 (GRCm39) |
L29P |
probably damaging |
Het |
Or8g24 |
G |
A |
9: 38,989,630 (GRCm39) |
S137F |
probably damaging |
Het |
Or9s18 |
A |
C |
13: 65,300,557 (GRCm39) |
N173T |
possibly damaging |
Het |
P2ry1 |
T |
C |
3: 60,911,095 (GRCm39) |
F78S |
possibly damaging |
Het |
Pcdhb18 |
T |
C |
18: 37,624,976 (GRCm39) |
F769L |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,533,304 (GRCm39) |
E144G |
probably damaging |
Het |
Pole |
T |
A |
5: 110,451,769 (GRCm39) |
N870K |
possibly damaging |
Het |
Polr2b |
T |
C |
5: 77,496,966 (GRCm39) |
F1159L |
possibly damaging |
Het |
Pramel32 |
T |
C |
4: 88,546,416 (GRCm39) |
K309E |
possibly damaging |
Het |
Rubcnl |
A |
G |
14: 75,279,793 (GRCm39) |
Y392C |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
Serpinh1 |
A |
C |
7: 98,995,563 (GRCm39) |
S340A |
probably damaging |
Het |
Slc1a5 |
T |
A |
7: 16,530,085 (GRCm39) |
|
probably null |
Het |
Soat2 |
A |
G |
15: 102,071,013 (GRCm39) |
D469G |
probably benign |
Het |
Speg |
T |
C |
1: 75,361,479 (GRCm39) |
L70P |
probably damaging |
Het |
Spred2 |
T |
C |
11: 19,874,958 (GRCm39) |
|
probably null |
Het |
Stac2 |
A |
C |
11: 97,933,439 (GRCm39) |
S168A |
probably damaging |
Het |
Stx1a |
T |
A |
5: 135,066,042 (GRCm39) |
D31E |
probably benign |
Het |
Timeless |
C |
T |
10: 128,085,623 (GRCm39) |
T885M |
probably damaging |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Tsen34 |
T |
C |
7: 3,698,614 (GRCm39) |
Y253H |
probably damaging |
Het |
Unc13b |
T |
C |
4: 43,173,966 (GRCm39) |
V1598A |
unknown |
Het |
Zfat |
A |
T |
15: 67,976,892 (GRCm39) |
Y1086N |
probably damaging |
Het |
Zfp551 |
G |
A |
7: 12,150,522 (GRCm39) |
H296Y |
probably benign |
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 |
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'- TACAGGATTTAGAGCTACTGAGATC -3'
(R):5'- AGTAGTCTCCCGTTCTCAGACAC -3'
Sequencing Primer
(F):5'- ATCTGTAACTCAAGGTGCATGG -3'
(R):5'- CGTTCTCAGACACCTGTTCTAAC -3'
|
Posted On |
2019-09-13 |