Incidental Mutation 'R1351:Cep126'
ID |
156663 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep126
|
Ensembl Gene |
ENSMUSG00000040729 |
Gene Name |
centrosomal protein 126 |
Synonyms |
AK129341 |
MMRRC Submission |
039416-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1351 (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 8100087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 816
(E816K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
AlphaFold |
Q0VBV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037397
AA Change: E816K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000042904 Gene: ENSMUSG00000040729 AA Change: E816K
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 |
0.1095 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef26 |
A |
G |
3: 62,288,262 (GRCm39) |
E444G |
probably damaging |
Het |
Astl |
G |
A |
2: 127,189,105 (GRCm39) |
V144M |
possibly damaging |
Het |
AW146154 |
A |
T |
7: 41,129,878 (GRCm39) |
C413S |
probably damaging |
Het |
Bicdl2 |
G |
A |
17: 23,886,519 (GRCm39) |
|
probably benign |
Het |
Cacna1h |
G |
T |
17: 25,610,925 (GRCm39) |
S624R |
probably benign |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cyp2j13 |
T |
C |
4: 95,945,155 (GRCm39) |
K291R |
probably benign |
Het |
Defb26 |
A |
T |
2: 152,349,737 (GRCm39) |
M181K |
unknown |
Het |
Dicer1 |
G |
A |
12: 104,695,401 (GRCm39) |
R177C |
probably damaging |
Het |
Eif4g2 |
A |
G |
7: 110,673,287 (GRCm39) |
Y831H |
probably damaging |
Het |
Ermap |
C |
T |
4: 119,038,558 (GRCm39) |
|
probably null |
Het |
Fcamr |
C |
T |
1: 130,740,757 (GRCm39) |
T392I |
possibly damaging |
Het |
Fgf3 |
T |
C |
7: 144,394,517 (GRCm39) |
|
probably benign |
Het |
Gpr162 |
T |
C |
6: 124,838,161 (GRCm39) |
Y163C |
probably damaging |
Het |
Gprc5d |
T |
C |
6: 135,093,230 (GRCm39) |
R226G |
possibly damaging |
Het |
Hapln3 |
A |
C |
7: 78,771,708 (GRCm39) |
S60R |
probably damaging |
Het |
Hif1a |
T |
C |
12: 73,987,235 (GRCm39) |
S443P |
probably benign |
Het |
Irf2bpl |
A |
G |
12: 86,929,398 (GRCm39) |
M425T |
probably benign |
Het |
Lrrc39 |
G |
T |
3: 116,359,469 (GRCm39) |
A5S |
possibly damaging |
Het |
Mbtps1 |
A |
G |
8: 120,244,901 (GRCm39) |
L850S |
possibly damaging |
Het |
Mios |
T |
A |
6: 8,228,120 (GRCm39) |
M679K |
possibly damaging |
Het |
Mocos |
T |
C |
18: 24,793,107 (GRCm39) |
F68S |
probably damaging |
Het |
Nuf2 |
T |
C |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
Or51k1 |
A |
G |
7: 103,661,523 (GRCm39) |
Y129H |
possibly damaging |
Het |
Orc1 |
T |
A |
4: 108,452,564 (GRCm39) |
D146E |
probably benign |
Het |
Pcdhb22 |
T |
C |
18: 37,651,627 (GRCm39) |
F32L |
probably benign |
Het |
Pde4d |
G |
T |
13: 110,087,809 (GRCm39) |
E562D |
possibly damaging |
Het |
Pgk2 |
T |
C |
17: 40,518,691 (GRCm39) |
K246E |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,884,574 (GRCm39) |
|
probably benign |
Het |
Pou3f2 |
A |
T |
4: 22,487,162 (GRCm39) |
C324S |
probably damaging |
Het |
Prkdc |
C |
T |
16: 15,485,564 (GRCm39) |
L464F |
possibly damaging |
Het |
Prrc2a |
T |
C |
17: 35,376,863 (GRCm39) |
H749R |
possibly damaging |
Het |
Rad18 |
T |
C |
6: 112,597,863 (GRCm39) |
N218S |
possibly damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,531 (GRCm39) |
Y76H |
possibly damaging |
Het |
Rif1 |
T |
G |
2: 52,001,567 (GRCm39) |
Y1674D |
possibly damaging |
Het |
Rrp1b |
A |
G |
17: 32,275,611 (GRCm39) |
H386R |
possibly damaging |
Het |
Sacs |
T |
C |
14: 61,440,210 (GRCm39) |
V752A |
probably benign |
Het |
Sema3c |
A |
G |
5: 17,883,334 (GRCm39) |
D314G |
possibly damaging |
Het |
Spata2l |
G |
A |
8: 123,960,072 (GRCm39) |
R406C |
probably damaging |
Het |
Tacc2 |
C |
T |
7: 130,264,733 (GRCm39) |
|
probably benign |
Het |
Tent4b |
C |
A |
8: 88,927,002 (GRCm39) |
Y137* |
probably null |
Het |
Trpc4 |
A |
G |
3: 54,102,423 (GRCm39) |
E107G |
probably damaging |
Het |
Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,230,073 (GRCm39) |
I286T |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,031,463 (GRCm39) |
T826A |
probably benign |
Het |
Zfp646 |
T |
A |
7: 127,482,683 (GRCm39) |
V1620E |
probably benign |
Het |
Zfyve28 |
T |
G |
5: 34,389,549 (GRCm39) |
D217A |
probably damaging |
Het |
Zmym6 |
G |
A |
4: 127,016,798 (GRCm39) |
G768R |
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 |
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'- AGGAGTTGGTAGAGCTGGACTCAC -3'
(R):5'- AGAGCAAAGCCCCTGTACATGC -3'
Sequencing Primer
(F):5'- TAGAGCTGGACTCACAGCAG -3'
(R):5'- CCTGTACATGCTAGTGACTCTAAGAC -3'
|
Posted On |
2014-02-11 |