Incidental Mutation 'R1394:Cep128'
ID |
162759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep128
|
Ensembl Gene |
ENSMUSG00000061533 |
Gene Name |
centrosomal protein 128 |
Synonyms |
5430424K18Rik, 4930534B04Rik |
MMRRC Submission |
039456-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R1394 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 91233754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 438
(R438Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115679
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000141429]
[ENSMUST00000143415]
|
AlphaFold |
Q8BI22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000141429
AA Change: R438Q
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000115679 Gene: ENSMUSG00000061533 AA Change: R438Q
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 benign
Transcript: ENSMUST00000143415
|
SMART Domains |
Protein: ENSMUSP00000122627 Gene: ENSMUSG00000061533
Domain | Start | End | E-Value | Type |
coiled coil region
|
2 |
369 |
N/A |
INTRINSIC |
coiled coil region
|
423 |
507 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
A |
G |
5: 113,249,362 (GRCm39) |
Y122H |
probably damaging |
Het |
Ankrd27 |
T |
C |
7: 35,315,294 (GRCm39) |
F481S |
possibly damaging |
Het |
Casd1 |
T |
G |
6: 4,624,117 (GRCm39) |
C303W |
probably damaging |
Het |
Cep192 |
A |
G |
18: 67,991,992 (GRCm39) |
T1957A |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,373,391 (GRCm39) |
S1224P |
possibly damaging |
Het |
Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
Cwc22 |
G |
A |
2: 77,759,823 (GRCm39) |
R75C |
possibly damaging |
Het |
Cyp4a30b |
A |
T |
4: 115,328,089 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
C |
12: 117,936,099 (GRCm39) |
D3298G |
possibly damaging |
Het |
Drc3 |
T |
C |
11: 60,284,545 (GRCm39) |
I450T |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,204,236 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,792,804 (GRCm39) |
H936R |
probably damaging |
Het |
Fkbp15 |
T |
A |
4: 62,246,109 (GRCm39) |
M440L |
probably benign |
Het |
Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
Gm44511 |
G |
A |
6: 128,797,293 (GRCm39) |
S32L |
possibly damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Ift81 |
G |
T |
5: 122,706,986 (GRCm39) |
D485E |
probably benign |
Het |
Ipp |
T |
A |
4: 116,395,109 (GRCm39) |
L548* |
probably null |
Het |
Itm2a |
C |
T |
X: 106,441,807 (GRCm39) |
V200I |
possibly damaging |
Het |
Kank1 |
A |
G |
19: 25,405,528 (GRCm39) |
N1182S |
probably damaging |
Het |
Mkks |
C |
T |
2: 136,722,882 (GRCm39) |
G92S |
probably damaging |
Het |
Mybbp1a |
C |
T |
11: 72,334,474 (GRCm39) |
P243L |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,802,714 (GRCm39) |
D386G |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,469,309 (GRCm39) |
S109G |
probably damaging |
Het |
Or6z6 |
T |
A |
7: 6,491,361 (GRCm39) |
T171S |
probably damaging |
Het |
Or9s13 |
T |
A |
1: 92,548,267 (GRCm39) |
I213N |
probably benign |
Het |
Pcdh12 |
A |
G |
18: 38,414,242 (GRCm39) |
|
probably null |
Het |
Phlpp1 |
T |
C |
1: 106,278,348 (GRCm39) |
V920A |
possibly damaging |
Het |
Phlpp2 |
T |
A |
8: 110,603,662 (GRCm39) |
C109* |
probably null |
Het |
Prickle2 |
T |
A |
6: 92,353,363 (GRCm39) |
H701L |
possibly damaging |
Het |
Psen1 |
G |
A |
12: 83,771,346 (GRCm39) |
G209R |
probably damaging |
Het |
Psg19 |
T |
C |
7: 18,530,983 (GRCm39) |
N57S |
probably damaging |
Het |
Rdh12 |
A |
G |
12: 79,255,839 (GRCm39) |
T9A |
probably benign |
Het |
Rgma |
G |
T |
7: 73,067,542 (GRCm39) |
A360S |
probably benign |
Het |
Scyl2 |
T |
A |
10: 89,476,827 (GRCm39) |
K766M |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Spata31e5 |
T |
C |
1: 28,815,890 (GRCm39) |
E714G |
possibly damaging |
Het |
Spata46 |
A |
G |
1: 170,139,573 (GRCm39) |
T191A |
probably benign |
Het |
Spin1 |
T |
C |
13: 51,298,517 (GRCm39) |
Y179H |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,143,357 (GRCm39) |
T673A |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,729,435 (GRCm39) |
M1508L |
probably benign |
Het |
Vasn |
C |
T |
16: 4,467,576 (GRCm39) |
R508* |
probably null |
Het |
Vmn2r15 |
T |
A |
5: 109,442,014 (GRCm39) |
I140L |
probably benign |
Het |
Wdr44 |
T |
G |
X: 23,662,298 (GRCm39) |
C645G |
probably damaging |
Het |
Zfand1 |
G |
T |
3: 10,411,269 (GRCm39) |
T62K |
probably benign |
Het |
Zfy1 |
C |
T |
Y: 725,957 (GRCm39) |
V603I |
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 |
|
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 |
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'- TAGAGACACAGCATGGCCCTCAAG -3'
(R):5'- TGCATGGTACATACCCAACACTGAC -3'
Sequencing Primer
(F):5'- GAACCTGGCTCATATACCTGG -3'
(R):5'- TGACAAGAATTTCACCCTAACGTTC -3'
|
Posted On |
2014-03-17 |