Incidental Mutation 'R7713:Cep128'
| ID |
594748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep128
|
| Ensembl Gene |
ENSMUSG00000061533 |
| Gene Name |
centrosomal protein 128 |
| Synonyms |
5430424K18Rik, 4930534B04Rik |
| MMRRC Submission |
045771-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R7713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
90965266-91351183 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90986096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1013
(D1013E)
|
| 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: D1013E
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000115679
Gene: ENSMUSG00000061533
AA Change: D1013E
| 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
AA Change: D560E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000122627
Gene: ENSMUSG00000061533
AA Change: D560E
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
| Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,071,425 (GRCm39) |
M355K |
possibly damaging |
Het |
| Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
| D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
| Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
| Esrp2 |
T |
C |
8: 106,860,908 (GRCm39) |
T205A |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
| Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
| G2e3 |
C |
A |
12: 51,415,839 (GRCm39) |
A525E |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
| Hapln3 |
C |
T |
7: 78,767,121 (GRCm39) |
R306H |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
| Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
| Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
| Lrrc32 |
G |
T |
7: 98,148,545 (GRCm39) |
G442W |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,488,550 (GRCm39) |
V68A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
| Naa35 |
T |
C |
13: 59,745,919 (GRCm39) |
I75T |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
| Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
| Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
| Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
| Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
| Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,701,525 (GRCm39) |
N402S |
unknown |
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 |
|
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 |
|
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'- CATCTTTGCATATGCTTGCGG -3'
(R):5'- ATCCTAATTTCAATCCCTGGTTGG -3'
Sequencing Primer
(F):5'- GCATATGCTTGCGGAATTGAAAAC -3'
(R):5'- CTGGGAATTGAACTCAGGACCTCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation