Incidental Mutation 'R0442:Cep128'
ID |
39235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep128
|
Ensembl Gene |
ENSMUSG00000061533 |
Gene Name |
centrosomal protein 128 |
Synonyms |
5430424K18Rik, 4930534B04Rik |
MMRRC Submission |
038643-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R0442 (G1)
|
Quality Score |
174 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 91233545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 508
(E508K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141429]
[ENSMUST00000143415]
|
AlphaFold |
Q8BI22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141429
AA Change: E508K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115679 Gene: ENSMUSG00000061533 AA Change: E508K
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 |
probably damaging
Transcript: ENSMUST00000143415
AA Change: E55K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122627 Gene: ENSMUSG00000061533 AA Change: E55K
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: 98.8%
- 3x: 97.5%
- 10x: 93.4%
- 20x: 81.2%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,435,551 (GRCm39) |
N816Y |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,553,563 (GRCm39) |
|
probably benign |
Het |
Cd200 |
T |
A |
16: 45,217,518 (GRCm39) |
S58C |
probably damaging |
Het |
Dnah2 |
C |
A |
11: 69,339,368 (GRCm39) |
L3046F |
probably damaging |
Het |
Duox2 |
T |
C |
2: 122,119,813 (GRCm39) |
N872D |
probably benign |
Het |
Fam90a1a |
C |
T |
8: 22,453,074 (GRCm39) |
T143I |
probably benign |
Het |
Fdft1 |
T |
C |
14: 63,400,798 (GRCm39) |
T112A |
probably benign |
Het |
Gimap9 |
G |
T |
6: 48,655,000 (GRCm39) |
G196* |
probably null |
Het |
Grhl1 |
G |
A |
12: 24,662,169 (GRCm39) |
R536Q |
probably damaging |
Het |
Gtpbp3 |
T |
A |
8: 71,944,135 (GRCm39) |
V293E |
probably damaging |
Het |
Hcn3 |
A |
T |
3: 89,058,847 (GRCm39) |
F251Y |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,462,045 (GRCm39) |
C971S |
possibly damaging |
Het |
Helz2 |
T |
A |
2: 180,874,002 (GRCm39) |
D2164V |
probably damaging |
Het |
Hif1an |
T |
G |
19: 44,554,451 (GRCm39) |
L188R |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
C |
T |
3: 88,023,266 (GRCm39) |
P519L |
probably damaging |
Het |
Jakmip1 |
T |
G |
5: 37,292,897 (GRCm39) |
|
probably null |
Het |
Klra1 |
T |
C |
6: 130,349,835 (GRCm39) |
Y201C |
probably damaging |
Het |
Minpp1 |
T |
C |
19: 32,471,348 (GRCm39) |
F299L |
possibly damaging |
Het |
Myb |
A |
G |
10: 21,002,095 (GRCm39) |
S749P |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,069,305 (GRCm39) |
|
probably null |
Het |
Naip1 |
T |
A |
13: 100,581,024 (GRCm39) |
R74S |
probably benign |
Het |
Nt5m |
A |
G |
11: 59,765,445 (GRCm39) |
T158A |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,893,000 (GRCm39) |
|
probably benign |
Het |
Or5af1 |
T |
A |
11: 58,722,257 (GRCm39) |
Y92* |
probably null |
Het |
Or5b119 |
T |
G |
19: 13,457,412 (GRCm39) |
D50A |
probably damaging |
Het |
Or6c210 |
T |
C |
10: 129,495,693 (GRCm39) |
I6T |
probably benign |
Het |
Otogl |
T |
A |
10: 107,712,716 (GRCm39) |
T543S |
probably damaging |
Het |
Pds5b |
T |
C |
5: 150,640,009 (GRCm39) |
|
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,288,000 (GRCm39) |
M49T |
possibly damaging |
Het |
Rabl6 |
A |
T |
2: 25,477,534 (GRCm39) |
S305R |
probably damaging |
Het |
Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
Rad54b |
C |
A |
4: 11,610,362 (GRCm39) |
R660S |
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,442,508 (GRCm39) |
L542P |
probably damaging |
Het |
Rp1 |
C |
T |
1: 4,416,970 (GRCm39) |
D1381N |
probably benign |
Het |
Scnn1a |
T |
G |
6: 125,316,100 (GRCm39) |
M346R |
probably damaging |
Het |
Sirpb1c |
A |
G |
3: 15,856,710 (GRCm39) |
I380T |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Sstr3 |
A |
T |
15: 78,424,597 (GRCm39) |
L50Q |
probably damaging |
Het |
St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
Sun5 |
T |
C |
2: 153,712,872 (GRCm39) |
D16G |
possibly damaging |
Het |
Svil |
A |
T |
18: 5,046,870 (GRCm39) |
T39S |
probably damaging |
Het |
Taar1 |
A |
G |
10: 23,796,380 (GRCm39) |
Y26C |
possibly damaging |
Het |
Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
Use1 |
T |
C |
8: 71,819,702 (GRCm39) |
|
probably benign |
Het |
Usp54 |
T |
C |
14: 20,657,277 (GRCm39) |
Y7C |
probably damaging |
Het |
Zbtb37 |
A |
G |
1: 160,859,918 (GRCm39) |
F129S |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
Zfp28 |
T |
C |
7: 6,397,998 (GRCm39) |
L811P |
probably damaging |
Het |
Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
possibly 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 |
|
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 |
R5476:Cep128
|
UTSW |
12 |
91,180,392 (GRCm39) |
missense |
probably damaging |
0.96 |
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'- GCACTTGCTGTCAATGAGACCACC -3'
(R):5'- CAAGCAGGCGGAACACTACCTTAG -3'
Sequencing Primer
(F):5'- GGTAGAAGATCCCTCAACTCTG -3'
(R):5'- GGAACACTACCTTAGTGAGTTCCAG -3'
|
Posted On |
2013-05-23 |