Incidental Mutation 'R5476:Cep128'
ID |
434090 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep128
|
Ensembl Gene |
ENSMUSG00000061533 |
Gene Name |
centrosomal protein 128 |
Synonyms |
5430424K18Rik, 4930534B04Rik |
MMRRC Submission |
043037-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.286)
|
Stock # |
R5476 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91180392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 917
(E917G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140674]
[ENSMUST00000141429]
[ENSMUST00000143415]
|
AlphaFold |
Q8BI22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000140674
|
SMART Domains |
Protein: ENSMUSP00000119394 Gene: ENSMUSG00000061533
Domain | Start | End | E-Value | Type |
low complexity region
|
112 |
119 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141429
AA Change: E917G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000115679 Gene: ENSMUSG00000061533 AA Change: E917G
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
110 |
N/A |
INTRINSIC |
coiled coil region
|
216 |
329 |
N/A |
INTRINSIC |
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
coiled coil region
|
377 |
822 |
N/A |
INTRINSIC |
coiled coil region
|
876 |
960 |
N/A |
INTRINSIC |
low complexity region
|
1091 |
1102 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143415
AA Change: E464G
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122627 Gene: ENSMUSG00000061533 AA Change: E464G
Domain | Start | End | E-Value | Type |
coiled coil region
|
2 |
369 |
N/A |
INTRINSIC |
coiled coil region
|
423 |
507 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
Ccdc96 |
A |
G |
5: 36,642,981 (GRCm39) |
D329G |
possibly damaging |
Het |
Cpox |
G |
C |
16: 58,499,088 (GRCm39) |
V434L |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
Mroh4 |
A |
T |
15: 74,483,510 (GRCm39) |
I609N |
probably benign |
Het |
Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
Phf21b |
A |
G |
15: 84,671,466 (GRCm39) |
M476T |
probably benign |
Het |
Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
Slc25a12 |
A |
G |
2: 71,105,666 (GRCm39) |
S623P |
probably benign |
Het |
Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
Spata2 |
A |
T |
2: 167,326,079 (GRCm39) |
S247T |
probably damaging |
Het |
Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
Zfp157 |
T |
G |
5: 138,455,443 (GRCm39) |
V547G |
possibly damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,079 (GRCm39) |
C551S |
probably damaging |
Het |
|
Other mutations in Cep128 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Cep128
|
APN |
12 |
91,200,965 (GRCm39) |
missense |
probably benign |
0.17 |
IGL00800:Cep128
|
APN |
12 |
91,222,438 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01738:Cep128
|
APN |
12 |
91,197,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Cep128
|
APN |
12 |
90,975,628 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01918:Cep128
|
APN |
12 |
91,200,984 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02043:Cep128
|
APN |
12 |
91,233,504 (GRCm39) |
splice site |
probably benign |
|
IGL02405:Cep128
|
APN |
12 |
91,233,760 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02616:Cep128
|
APN |
12 |
91,263,032 (GRCm39) |
missense |
probably benign |
0.03 |
PIT4260001:Cep128
|
UTSW |
12 |
91,265,808 (GRCm39) |
missense |
probably benign |
0.00 |
R0416:Cep128
|
UTSW |
12 |
91,197,641 (GRCm39) |
splice site |
probably benign |
|
R0442:Cep128
|
UTSW |
12 |
91,233,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R0608:Cep128
|
UTSW |
12 |
90,966,309 (GRCm39) |
utr 3 prime |
probably benign |
|
R1108:Cep128
|
UTSW |
12 |
91,305,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R1178:Cep128
|
UTSW |
12 |
91,226,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1183:Cep128
|
UTSW |
12 |
91,292,372 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1394:Cep128
|
UTSW |
12 |
91,233,754 (GRCm39) |
missense |
probably benign |
0.07 |
R1395:Cep128
|
UTSW |
12 |
91,233,754 (GRCm39) |
missense |
probably benign |
0.07 |
R1498:Cep128
|
UTSW |
12 |
91,333,191 (GRCm39) |
missense |
probably benign |
|
R1541:Cep128
|
UTSW |
12 |
91,315,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1639:Cep128
|
UTSW |
12 |
91,333,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Cep128
|
UTSW |
12 |
91,292,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1682:Cep128
|
UTSW |
12 |
91,197,596 (GRCm39) |
missense |
probably damaging |
0.99 |
R1739:Cep128
|
UTSW |
12 |
90,989,265 (GRCm39) |
splice site |
probably null |
|
R1758:Cep128
|
UTSW |
12 |
91,314,352 (GRCm39) |
missense |
probably benign |
0.02 |
R1845:Cep128
|
UTSW |
12 |
91,256,372 (GRCm39) |
missense |
probably benign |
0.01 |
R1987:Cep128
|
UTSW |
12 |
91,197,603 (GRCm39) |
missense |
probably benign |
0.01 |
R2017:Cep128
|
UTSW |
12 |
91,333,238 (GRCm39) |
missense |
probably damaging |
0.98 |
R2237:Cep128
|
UTSW |
12 |
91,314,341 (GRCm39) |
missense |
probably benign |
0.01 |
R2239:Cep128
|
UTSW |
12 |
91,314,341 (GRCm39) |
missense |
probably benign |
0.01 |
R3103:Cep128
|
UTSW |
12 |
90,986,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R4552:Cep128
|
UTSW |
12 |
91,260,936 (GRCm39) |
missense |
probably damaging |
0.98 |
R4664:Cep128
|
UTSW |
12 |
91,263,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Cep128
|
UTSW |
12 |
91,200,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R4838:Cep128
|
UTSW |
12 |
90,966,319 (GRCm39) |
utr 3 prime |
probably benign |
|
R4858:Cep128
|
UTSW |
12 |
91,226,936 (GRCm39) |
missense |
probably benign |
0.04 |
R4924:Cep128
|
UTSW |
12 |
90,989,174 (GRCm39) |
splice site |
silent |
|
R5002:Cep128
|
UTSW |
12 |
91,222,497 (GRCm39) |
splice site |
probably null |
|
R5282:Cep128
|
UTSW |
12 |
91,305,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Cep128
|
UTSW |
12 |
90,966,345 (GRCm39) |
missense |
probably benign |
0.03 |
R5643:Cep128
|
UTSW |
12 |
91,315,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Cep128
|
UTSW |
12 |
91,315,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R5668:Cep128
|
UTSW |
12 |
90,966,410 (GRCm39) |
missense |
probably benign |
0.01 |
R6057:Cep128
|
UTSW |
12 |
91,262,998 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6831:Cep128
|
UTSW |
12 |
91,233,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R6852:Cep128
|
UTSW |
12 |
91,333,116 (GRCm39) |
critical splice donor site |
probably null |
|
R7078:Cep128
|
UTSW |
12 |
91,200,878 (GRCm39) |
missense |
probably damaging |
0.99 |
R7144:Cep128
|
UTSW |
12 |
91,260,933 (GRCm39) |
missense |
probably damaging |
0.98 |
R7487:Cep128
|
UTSW |
12 |
90,966,404 (GRCm39) |
missense |
probably benign |
0.05 |
R7582:Cep128
|
UTSW |
12 |
91,314,340 (GRCm39) |
missense |
probably damaging |
0.96 |
R7713:Cep128
|
UTSW |
12 |
90,986,096 (GRCm39) |
missense |
probably benign |
0.07 |
R8245:Cep128
|
UTSW |
12 |
90,966,419 (GRCm39) |
missense |
probably benign |
0.03 |
R8893:Cep128
|
UTSW |
12 |
91,263,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R8913:Cep128
|
UTSW |
12 |
91,331,221 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8935:Cep128
|
UTSW |
12 |
91,233,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R8991:Cep128
|
UTSW |
12 |
91,200,987 (GRCm39) |
missense |
probably damaging |
0.97 |
R9168:Cep128
|
UTSW |
12 |
91,233,794 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cep128
|
UTSW |
12 |
91,331,145 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cep128
|
UTSW |
12 |
91,256,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- AATAGTTATCTCTGATAGTCCCAGC -3'
(R):5'- CCCTTAGGCTGTTATGATCTGGAC -3'
Sequencing Primer
(F):5'- TCTCTGATAGTCCCAGCAATGAAG -3'
(R):5'- ACTAAACTGCAGTGGCTG -3'
|
Posted On |
2016-10-06 |