Incidental Mutation 'R2444:Cep126'
ID |
249917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep126
|
Ensembl Gene |
ENSMUSG00000040729 |
Gene Name |
centrosomal protein 126 |
Synonyms |
AK129341 |
MMRRC Submission |
040402-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2444 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 8101307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 409
(T409M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
AlphaFold |
Q0VBV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037397
AA Change: T409M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042904 Gene: ENSMUSG00000040729 AA Change: T409M
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
T |
10: 78,904,561 (GRCm39) |
D112E |
possibly damaging |
Het |
Abca15 |
A |
G |
7: 119,965,120 (GRCm39) |
Y794C |
probably damaging |
Het |
Bicd2 |
T |
C |
13: 49,532,500 (GRCm39) |
V362A |
probably benign |
Het |
Cep131 |
A |
G |
11: 119,961,321 (GRCm39) |
F610S |
probably damaging |
Het |
Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
Chd1l |
A |
G |
3: 97,497,882 (GRCm39) |
Y320H |
probably damaging |
Het |
Dnajc30 |
A |
G |
5: 135,093,439 (GRCm39) |
D112G |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,196,289 (GRCm39) |
D486G |
possibly damaging |
Het |
Fam184a |
A |
C |
10: 53,517,045 (GRCm39) |
L410R |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,172,799 (GRCm39) |
N2638S |
probably damaging |
Het |
Fgf15 |
A |
G |
7: 144,453,429 (GRCm39) |
D134G |
probably benign |
Het |
Flywch2 |
A |
T |
17: 23,996,024 (GRCm39) |
S124R |
possibly damaging |
Het |
Gabra5 |
G |
A |
7: 57,058,623 (GRCm39) |
T375I |
probably benign |
Het |
Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
Hltf |
T |
A |
3: 20,118,071 (GRCm39) |
N44K |
possibly damaging |
Het |
Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
Kcnb2 |
A |
T |
1: 15,779,791 (GRCm39) |
N221I |
probably benign |
Het |
Marco |
G |
A |
1: 120,422,499 (GRCm39) |
T61M |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,222,786 (GRCm39) |
I180T |
probably damaging |
Het |
Mei1 |
C |
T |
15: 81,997,142 (GRCm39) |
T626M |
probably damaging |
Het |
Mtnr1a |
C |
T |
8: 45,540,695 (GRCm39) |
Q219* |
probably null |
Het |
Nav3 |
A |
G |
10: 109,600,776 (GRCm39) |
S1284P |
probably benign |
Het |
Or1j10 |
T |
C |
2: 36,267,625 (GRCm39) |
V279A |
possibly damaging |
Het |
Or7g30 |
T |
A |
9: 19,352,311 (GRCm39) |
I34K |
possibly damaging |
Het |
Pcdh9 |
T |
A |
14: 94,124,227 (GRCm39) |
T648S |
probably benign |
Het |
Proz |
A |
T |
8: 13,111,027 (GRCm39) |
|
probably benign |
Het |
Rec114 |
G |
T |
9: 58,567,602 (GRCm39) |
A128E |
probably damaging |
Het |
Rspry1 |
G |
T |
8: 95,349,735 (GRCm39) |
G41V |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 109,929,905 (GRCm39) |
M1388K |
probably benign |
Het |
Spice1 |
C |
T |
16: 44,186,931 (GRCm39) |
Q143* |
probably null |
Het |
Tcstv3 |
A |
T |
13: 120,779,365 (GRCm39) |
K88M |
probably damaging |
Het |
Terb2 |
T |
A |
2: 122,023,788 (GRCm39) |
|
probably null |
Het |
Tmx3 |
A |
T |
18: 90,558,307 (GRCm39) |
K453M |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,933,200 (GRCm39) |
Y688C |
probably damaging |
Het |
Tshz2 |
T |
G |
2: 169,726,726 (GRCm39) |
S441A |
probably benign |
Het |
Usp45 |
A |
T |
4: 21,817,528 (GRCm39) |
M399L |
probably benign |
Het |
Vmn2r82 |
A |
T |
10: 79,213,702 (GRCm39) |
H96L |
possibly damaging |
Het |
Wls |
G |
A |
3: 159,612,867 (GRCm39) |
R261Q |
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 |
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'- CACTGCACAGGGTCAATTTC -3'
(R):5'- CTTTGAGCAGAACTGTGGGAAG -3'
Sequencing Primer
(F):5'- GCACAGGGTCAATTTCTTTTATCTG -3'
(R):5'- TGGGAAGAACCACAAGAACTACTAG -3'
|
Posted On |
2014-11-12 |