Incidental Mutation 'R9064:Cep126'
ID |
689151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep126
|
Ensembl Gene |
ENSMUSG00000040729 |
Gene Name |
centrosomal protein 126 |
Synonyms |
AK129341 |
MMRRC Submission |
068889-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9064 (G1)
|
Quality Score |
212.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8103341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 223
(D223G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
AlphaFold |
Q0VBV7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037397
AA Change: D223G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042904 Gene: ENSMUSG00000040729 AA Change: D223G
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 |
|
Meta Mutation Damage Score |
0.0948 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
T |
C |
2: 150,463,510 (GRCm39) |
E598G |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,570,965 (GRCm39) |
E504G |
possibly damaging |
Het |
Ank3 |
T |
C |
10: 69,822,185 (GRCm39) |
S285P |
|
Het |
Ankrd28 |
G |
A |
14: 31,454,005 (GRCm39) |
H410Y |
probably damaging |
Het |
Armh1 |
C |
A |
4: 117,094,855 (GRCm39) |
V62L |
probably benign |
Het |
Atp8b1 |
A |
G |
18: 64,697,491 (GRCm39) |
I451T |
probably benign |
Het |
C2cd3 |
A |
G |
7: 100,059,608 (GRCm39) |
D245G |
|
Het |
Calr3 |
T |
C |
8: 73,188,674 (GRCm39) |
K151R |
possibly damaging |
Het |
Cenpq |
G |
A |
17: 41,243,731 (GRCm39) |
T39I |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,143,279 (GRCm39) |
I538K |
possibly damaging |
Het |
Cyp3a41b |
C |
T |
5: 145,514,910 (GRCm39) |
R105Q |
probably damaging |
Het |
Dnah6 |
C |
A |
6: 73,126,156 (GRCm39) |
R1327L |
probably benign |
Het |
Exd2 |
T |
C |
12: 80,531,148 (GRCm39) |
|
probably null |
Het |
Fam118a |
T |
C |
15: 84,930,039 (GRCm39) |
V89A |
probably damaging |
Het |
Fbxo40 |
A |
T |
16: 36,791,002 (GRCm39) |
I36K |
probably damaging |
Het |
Fntb |
A |
G |
12: 76,934,640 (GRCm39) |
N170S |
probably benign |
Het |
Frzb |
A |
G |
2: 80,277,052 (GRCm39) |
S45P |
probably benign |
Het |
Gm4841 |
T |
C |
18: 60,403,961 (GRCm39) |
E44G |
probably benign |
Het |
Hecw2 |
C |
A |
1: 53,866,045 (GRCm39) |
A1539S |
probably benign |
Het |
Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
Kcnh5 |
A |
T |
12: 75,177,727 (GRCm39) |
C126* |
probably null |
Het |
Kdm5a |
TAGAAGAAG |
TAGAAG |
6: 120,403,869 (GRCm39) |
|
probably benign |
Het |
Kremen2 |
A |
G |
17: 23,961,736 (GRCm39) |
L257P |
possibly damaging |
Het |
Mcat |
A |
C |
15: 83,432,134 (GRCm39) |
F245V |
probably damaging |
Het |
Mdm2 |
T |
C |
10: 117,538,235 (GRCm39) |
I54M |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,754,397 (GRCm38) |
T1424A |
possibly damaging |
Het |
Mylk3 |
T |
C |
8: 86,081,940 (GRCm39) |
T416A |
probably benign |
Het |
Nol4 |
T |
A |
18: 22,903,850 (GRCm39) |
D156V |
|
Het |
Nxpe4 |
T |
C |
9: 48,309,964 (GRCm39) |
V409A |
probably benign |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Obscn |
G |
T |
11: 58,899,935 (GRCm39) |
T966K |
|
Het |
Or10j3b |
C |
T |
1: 173,044,060 (GRCm39) |
L281F |
possibly damaging |
Het |
Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
Or14c42-ps1 |
A |
G |
7: 86,211,371 (GRCm39) |
T144A |
unknown |
Het |
Phip |
C |
T |
9: 82,753,540 (GRCm39) |
V1735I |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,426,038 (GRCm39) |
T3200S |
possibly damaging |
Het |
Prdm4 |
T |
C |
10: 85,737,678 (GRCm39) |
N496S |
probably damaging |
Het |
Proser1 |
C |
T |
3: 53,384,927 (GRCm39) |
L270F |
probably damaging |
Het |
Psmd11 |
T |
C |
11: 80,336,069 (GRCm39) |
V107A |
probably damaging |
Het |
Rassf10 |
A |
T |
7: 112,554,315 (GRCm39) |
E305D |
probably benign |
Het |
Rbm45 |
T |
C |
2: 76,202,446 (GRCm39) |
I123T |
probably damaging |
Het |
Rpp25 |
G |
T |
9: 57,411,635 (GRCm39) |
R39L |
probably damaging |
Het |
Rreb1 |
A |
G |
13: 38,115,326 (GRCm39) |
N895S |
possibly damaging |
Het |
Sirpa |
A |
T |
2: 129,458,460 (GRCm39) |
S359C |
possibly damaging |
Het |
Slc26a9 |
T |
A |
1: 131,680,703 (GRCm39) |
C83S |
probably benign |
Het |
Spink5 |
T |
G |
18: 44,100,193 (GRCm39) |
L70R |
probably damaging |
Het |
Stil |
T |
G |
4: 114,898,932 (GRCm39) |
N1187K |
probably benign |
Het |
Sucla2 |
A |
T |
14: 73,828,303 (GRCm39) |
E303D |
probably benign |
Het |
Supt3 |
G |
A |
17: 45,305,295 (GRCm39) |
|
probably null |
Het |
Tmc5 |
G |
T |
7: 118,233,270 (GRCm39) |
S28I |
probably benign |
Het |
Vps8 |
T |
C |
16: 21,288,979 (GRCm39) |
V444A |
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 |
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 |
|
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'- CCCAAATGAGGTCCATGGAG -3'
(R):5'- AGAGCTATAGATTCTGCCTTGCC -3'
Sequencing Primer
(F):5'- TGGCTTAGTAGTAAAGAGCACTTGC -3'
(R):5'- AGATTCTGCCTTGCCTTCAACATTG -3'
|
Posted On |
2021-11-19 |