Incidental Mutation 'R0980:Cep126'
ID |
97007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep126
|
Ensembl Gene |
ENSMUSG00000040729 |
Gene Name |
centrosomal protein 126 |
Synonyms |
AK129341 |
MMRRC Submission |
039106-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0980 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
8076462-8134295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8100720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 605
(T605A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042904
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037397]
|
AlphaFold |
Q0VBV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037397
AA Change: T605A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000042904 Gene: ENSMUSG00000040729 AA Change: T605A
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: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 89.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankdd1a |
T |
C |
9: 65,424,253 (GRCm39) |
H20R |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,467,866 (GRCm39) |
E1778G |
possibly damaging |
Het |
Arhgef18 |
C |
T |
8: 3,439,095 (GRCm39) |
|
probably benign |
Het |
Blm |
A |
T |
7: 80,149,706 (GRCm39) |
|
probably null |
Het |
Ccr6 |
A |
G |
17: 8,474,846 (GRCm39) |
E17G |
probably benign |
Het |
Cnga4 |
C |
A |
7: 105,057,213 (GRCm39) |
P439T |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
Cyp2a5 |
A |
G |
7: 26,538,431 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
Elp3 |
T |
C |
14: 65,815,402 (GRCm39) |
T197A |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,806,378 (GRCm39) |
D1200G |
probably damaging |
Het |
Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
Gprin1 |
T |
C |
13: 54,888,214 (GRCm39) |
D20G |
possibly damaging |
Het |
Hltf |
T |
C |
3: 20,145,665 (GRCm39) |
S432P |
probably benign |
Het |
Immt |
T |
C |
6: 71,851,310 (GRCm39) |
V54A |
probably benign |
Het |
Jhy |
T |
G |
9: 40,856,133 (GRCm39) |
Y118S |
possibly damaging |
Het |
Kif23 |
C |
A |
9: 61,844,046 (GRCm39) |
K154N |
possibly damaging |
Het |
Krt79 |
T |
C |
15: 101,846,442 (GRCm39) |
T169A |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,740,827 (GRCm39) |
E443G |
probably damaging |
Het |
Ltbp4 |
A |
T |
7: 27,023,587 (GRCm39) |
C786S |
probably damaging |
Het |
Mme |
A |
T |
3: 63,247,550 (GRCm39) |
E278D |
probably benign |
Het |
Nt5c2 |
G |
T |
19: 46,887,317 (GRCm39) |
Q162K |
probably benign |
Het |
Obscn |
A |
G |
11: 58,888,887 (GRCm39) |
V2109A |
possibly damaging |
Het |
Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
Or8k28 |
T |
C |
2: 86,285,704 (GRCm39) |
T304A |
probably benign |
Het |
Or8k38 |
T |
A |
2: 86,488,209 (GRCm39) |
I198L |
probably benign |
Het |
Osmr |
G |
T |
15: 6,881,921 (GRCm39) |
N74K |
probably benign |
Het |
Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
Pgd |
A |
T |
4: 149,238,768 (GRCm39) |
|
probably null |
Het |
Pld1 |
T |
A |
3: 28,178,724 (GRCm39) |
S873T |
probably damaging |
Het |
Polk |
A |
T |
13: 96,620,272 (GRCm39) |
C664S |
probably benign |
Het |
Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
Ptgs2 |
A |
C |
1: 149,980,061 (GRCm39) |
D333A |
probably damaging |
Het |
Rexo5 |
T |
C |
7: 119,423,035 (GRCm39) |
V289A |
probably damaging |
Het |
Rnf125 |
T |
A |
18: 21,112,117 (GRCm39) |
C49* |
probably null |
Het |
Rprd2 |
C |
A |
3: 95,673,216 (GRCm39) |
R729L |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,388,994 (GRCm39) |
S407G |
possibly damaging |
Het |
Slc35a4 |
C |
A |
18: 36,815,834 (GRCm39) |
N221K |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,220,761 (GRCm39) |
D563G |
probably benign |
Het |
Stk39 |
G |
T |
2: 68,222,515 (GRCm39) |
T183K |
probably damaging |
Het |
Tc2n |
T |
A |
12: 101,644,835 (GRCm39) |
K264* |
probably null |
Het |
Trim23 |
C |
T |
13: 104,324,635 (GRCm39) |
R238W |
probably damaging |
Het |
Trim66 |
C |
A |
7: 109,054,877 (GRCm39) |
V1240L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,584,389 (GRCm39) |
T13913A |
probably damaging |
Het |
Ubap1 |
T |
G |
4: 41,379,832 (GRCm39) |
C349G |
probably damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTTCTTTCCAGCAGCAGAATG -3'
(R):5'- GTGTAACAACCCTCCTGACTGTGAC -3'
Sequencing Primer
(F):5'- CACTCAGGAATACTTGTCAGGTTG -3'
(R):5'- CTGACTGTGACTTGCCAGAG -3'
|
Posted On |
2014-01-05 |