Incidental Mutation 'R5282:Cep128'
| ID |
402831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep128
|
| Ensembl Gene |
ENSMUSG00000061533 |
| Gene Name |
centrosomal protein 128 |
| Synonyms |
5430424K18Rik, 4930534B04Rik |
| MMRRC Submission |
042867-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R5282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91305893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 170
(L170P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141429]
|
| AlphaFold |
Q8BI22 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129111
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141429
AA Change: L170P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: L170P
| 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 |
noncoding transcript
Transcript: ENSMUST00000145094
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
T |
A |
9: 108,270,439 (GRCm39) |
M1K |
probably null |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,166 (GRCm39) |
L216S |
possibly damaging |
Het |
| 4933405O20Rik |
G |
A |
7: 50,249,220 (GRCm39) |
E85K |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,257,492 (GRCm39) |
F1153L |
probably damaging |
Het |
| Cbx8 |
A |
G |
11: 118,929,742 (GRCm39) |
S284P |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,126,959 (GRCm39) |
T324S |
probably damaging |
Het |
| Daw1 |
G |
T |
1: 83,170,419 (GRCm39) |
V244L |
probably benign |
Het |
| Eef2kmt |
A |
G |
16: 5,063,222 (GRCm39) |
V306A |
probably benign |
Het |
| Enah |
A |
T |
1: 181,763,293 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,683,949 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,808,925 (GRCm39) |
T1748I |
possibly damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,862,559 (GRCm39) |
G175D |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,458,047 (GRCm39) |
N33K |
probably damaging |
Het |
| Incenp |
T |
A |
19: 9,855,770 (GRCm39) |
E514V |
unknown |
Het |
| Kank3 |
T |
C |
17: 34,036,917 (GRCm39) |
S74P |
probably benign |
Het |
| Lrriq1 |
G |
T |
10: 103,051,206 (GRCm39) |
N515K |
probably benign |
Het |
| Mfsd13b |
G |
A |
7: 120,591,056 (GRCm39) |
D266N |
probably damaging |
Het |
| Neto1 |
T |
C |
18: 86,422,998 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nub1 |
C |
A |
5: 24,900,533 (GRCm39) |
F145L |
probably benign |
Het |
| Nufip1 |
T |
C |
14: 76,351,715 (GRCm39) |
|
probably null |
Het |
| Pard6g |
T |
A |
18: 80,123,116 (GRCm39) |
V50E |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,703,379 (GRCm39) |
N431T |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,205 (GRCm39) |
T196S |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,865,029 (GRCm39) |
Y764C |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,908,550 (GRCm39) |
|
probably null |
Het |
| Smox |
T |
A |
2: 131,363,026 (GRCm39) |
V265D |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,678,510 (GRCm39) |
I105V |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,045,554 (GRCm39) |
D22G |
probably damaging |
Het |
| Tbck |
G |
A |
3: 132,456,977 (GRCm39) |
M630I |
possibly damaging |
Het |
| Tenm4 |
G |
C |
7: 96,486,538 (GRCm39) |
G965R |
possibly damaging |
Het |
| Trappc10 |
G |
A |
10: 78,023,694 (GRCm39) |
T1258I |
probably damaging |
Het |
| Tssk1 |
G |
A |
16: 17,713,123 (GRCm39) |
G303S |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,120,461 (GRCm39) |
Y313C |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,707,401 (GRCm39) |
T260M |
probably damaging |
Het |
| Wdr43 |
T |
A |
17: 71,955,772 (GRCm39) |
V479E |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,921,171 (GRCm39) |
T599I |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,836,013 (GRCm39) |
K523E |
probably benign |
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 |
|
|
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'- TTACAGGAATGAACTGGTCCGC -3'
(R):5'- GTGATGGTCACTGGAGGACTAG -3'
Sequencing Primer
(F):5'- ATGAACTGGTCCGCTCGGTAAG -3'
(R):5'- GGCGTATGTCTTAATGAGAAGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation