Incidental Mutation 'IGL01633:Cep126'
| ID |
93641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep126
|
| Ensembl Gene |
ENSMUSG00000040729 |
| Gene Name |
centrosomal protein 126 |
| Synonyms |
AK129341 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01633
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8103320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 230
(Q230P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
| AlphaFold |
Q0VBV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037397
AA Change: Q230P
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042904
Gene: ENSMUSG00000040729
AA Change: Q230P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,334,406 (GRCm39) |
S1868T |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,616,327 (GRCm39) |
W923* |
probably null |
Het |
| Abca8b |
A |
G |
11: 109,827,580 (GRCm39) |
M1476T |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,498,163 (GRCm39) |
F729S |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,356,919 (GRCm39) |
|
probably benign |
Het |
| Aldh3a2 |
A |
G |
11: 61,139,731 (GRCm39) |
L467P |
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,684,795 (GRCm39) |
T85A |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,574 (GRCm39) |
I2487N |
possibly damaging |
Het |
| Bcl2a1c |
G |
A |
9: 114,159,290 (GRCm39) |
V23I |
probably benign |
Het |
| C2cd2 |
T |
A |
16: 97,676,323 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,731,684 (GRCm39) |
H170L |
possibly damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,919,593 (GRCm39) |
V305I |
probably benign |
Het |
| Ccdc174 |
G |
A |
6: 91,857,343 (GRCm39) |
|
probably null |
Het |
| Chrm1 |
T |
C |
19: 8,655,859 (GRCm39) |
I188T |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,081,544 (GRCm39) |
S569P |
probably damaging |
Het |
| Drc1 |
G |
A |
5: 30,503,007 (GRCm39) |
E177K |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,164,279 (GRCm39) |
E913G |
probably benign |
Het |
| Fbxw9 |
T |
C |
8: 85,791,055 (GRCm39) |
S241P |
probably damaging |
Het |
| Fez2 |
C |
A |
17: 78,712,147 (GRCm39) |
|
probably benign |
Het |
| Fga |
G |
T |
3: 82,937,606 (GRCm39) |
R161L |
possibly damaging |
Het |
| Fn3krp |
G |
T |
11: 121,320,533 (GRCm39) |
G293* |
probably null |
Het |
| Gfra1 |
C |
T |
19: 58,255,479 (GRCm39) |
E318K |
probably benign |
Het |
| Gli3 |
C |
T |
13: 15,823,219 (GRCm39) |
P314S |
probably damaging |
Het |
| Gm5114 |
A |
T |
7: 39,057,490 (GRCm39) |
S710T |
probably benign |
Het |
| Gpr141 |
T |
C |
13: 19,936,769 (GRCm39) |
D2G |
probably benign |
Het |
| Inppl1 |
G |
A |
7: 101,483,041 (GRCm39) |
Q63* |
probably null |
Het |
| Lrrc73 |
T |
A |
17: 46,566,657 (GRCm39) |
V169E |
possibly damaging |
Het |
| Lsm11 |
C |
T |
11: 45,824,615 (GRCm39) |
R304Q |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,395,964 (GRCm39) |
D788G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,533,898 (GRCm39) |
D1844E |
probably damaging |
Het |
| Nt5c |
A |
G |
11: 115,382,161 (GRCm39) |
F73L |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,854,085 (GRCm39) |
I541N |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,413 (GRCm39) |
I1203V |
probably benign |
Het |
| Pram1 |
C |
A |
17: 33,861,109 (GRCm39) |
P510Q |
possibly damaging |
Het |
| Prepl |
A |
G |
17: 85,379,444 (GRCm39) |
Y415H |
probably benign |
Het |
| Prss27 |
A |
T |
17: 24,264,650 (GRCm39) |
H271L |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,510,989 (GRCm39) |
S287G |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,535,584 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,446,974 (GRCm39) |
K218E |
probably benign |
Het |
| Senp6 |
G |
T |
9: 79,999,676 (GRCm39) |
S31I |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,971,136 (GRCm39) |
T31K |
probably damaging |
Het |
| Skint6 |
C |
A |
4: 113,095,246 (GRCm39) |
V138F |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,685,128 (GRCm39) |
H168N |
probably damaging |
Het |
| Tbx15 |
T |
G |
3: 99,220,358 (GRCm39) |
I150S |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,959,125 (GRCm39) |
N103D |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,222,809 (GRCm39) |
N170D |
probably damaging |
Het |
| Tmem108 |
A |
T |
9: 103,361,950 (GRCm39) |
N545K |
probably benign |
Het |
| Trub1 |
A |
G |
19: 57,441,616 (GRCm39) |
K80E |
possibly damaging |
Het |
| Tulp3 |
A |
T |
6: 128,302,923 (GRCm39) |
Y299N |
probably damaging |
Het |
|
| Other mutations in Cep126 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation