Incidental Mutation 'R8388:Cep68'
| ID |
647247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep68
|
| Ensembl Gene |
ENSMUSG00000044066 |
| Gene Name |
centrosomal protein 68 |
| Synonyms |
6030463E10Rik |
| MMRRC Submission |
067753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R8388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
20177037-20199424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20180582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 683
(V683D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020358]
[ENSMUST00000050611]
[ENSMUST00000109602]
[ENSMUST00000163483]
|
| AlphaFold |
Q8C0D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020358
|
| SMART Domains |
Protein: ENSMUSP00000020358
Gene: ENSMUSG00000020149
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
9 |
172 |
2.9e-107 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050611
AA Change: V683D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: V683D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
SPEC
|
605 |
706 |
1.28e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109602
|
| SMART Domains |
Protein: ENSMUSP00000105231
Gene: ENSMUSG00000020149
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
10 |
31 |
7.6e-6 |
PFAM |
|
Pfam:Ras
|
29 |
107 |
8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163483
|
| SMART Domains |
Protein: ENSMUSP00000127330
Gene: ENSMUSG00000020149
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
12 |
175 |
2.9e-107 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,209,888 (GRCm39) |
Y173N |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,548,937 (GRCm39) |
T282A |
probably benign |
Het |
| Adamdec1 |
A |
T |
14: 68,810,684 (GRCm39) |
Y157* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,456,815 (GRCm39) |
Y189H |
probably damaging |
Het |
| Alg11 |
G |
A |
8: 22,552,050 (GRCm39) |
V65I |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,939,026 (GRCm39) |
V278M |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,717,744 (GRCm39) |
P950L |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,861,571 (GRCm39) |
I493N |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,521,873 (GRCm39) |
Y59C |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,311,813 (GRCm39) |
E685G |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,498,484 (GRCm39) |
S78T |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,614,139 (GRCm39) |
V430A |
probably damaging |
Het |
| Efr3a |
T |
C |
15: 65,738,671 (GRCm39) |
S767P |
probably benign |
Het |
| Enkd1 |
T |
C |
8: 106,431,025 (GRCm39) |
Q234R |
probably damaging |
Het |
| Ercc6 |
ACGGTACCG |
ACGGTACCGGTACCG |
14: 32,292,297 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
T |
A |
6: 38,722,630 (GRCm39) |
Y468F |
probably damaging |
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
A |
G |
6: 126,511,588 (GRCm39) |
V180A |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 166,947,217 (GRCm39) |
I544V |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,843,327 (GRCm39) |
S1119P |
possibly damaging |
Het |
| Klk13 |
T |
C |
7: 43,373,235 (GRCm39) |
C190R |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,562 (GRCm39) |
S2749P |
probably benign |
Het |
| Mpeg1 |
T |
C |
19: 12,440,278 (GRCm39) |
S579P |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,359,784 (GRCm39) |
I903K |
probably damaging |
Het |
| Or4s2 |
T |
A |
2: 88,473,305 (GRCm39) |
S65T |
probably damaging |
Het |
| Ptx4 |
T |
C |
17: 25,339,897 (GRCm39) |
S25P |
probably damaging |
Het |
| Sipa1l1 |
G |
T |
12: 82,216,259 (GRCm39) |
|
probably benign |
Het |
| Slfn9 |
G |
C |
11: 82,878,112 (GRCm39) |
T339R |
probably benign |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,065,237 (GRCm39) |
I1556V |
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,854,735 (GRCm39) |
N21D |
probably benign |
Het |
|
| Other mutations in Cep68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01617:Cep68
|
APN |
11 |
20,189,510 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02404:Cep68
|
APN |
11 |
20,190,004 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02441:Cep68
|
APN |
11 |
20,189,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02554:Cep68
|
APN |
11 |
20,190,096 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02732:Cep68
|
APN |
11 |
20,186,109 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4366001:Cep68
|
UTSW |
11 |
20,190,007 (GRCm39) |
missense |
probably benign |
0.21 |
|
PIT4418001:Cep68
|
UTSW |
11 |
20,189,731 (GRCm39) |
missense |
probably benign |
|
|
R0399:Cep68
|
UTSW |
11 |
20,180,571 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0792:Cep68
|
UTSW |
11 |
20,190,652 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0882:Cep68
|
UTSW |
11 |
20,189,393 (GRCm39) |
missense |
probably benign |
|
|
R1163:Cep68
|
UTSW |
11 |
20,190,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1869:Cep68
|
UTSW |
11 |
20,190,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Cep68
|
UTSW |
11 |
20,189,888 (GRCm39) |
missense |
probably benign |
|
|
R2901:Cep68
|
UTSW |
11 |
20,190,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2902:Cep68
|
UTSW |
11 |
20,190,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4292:Cep68
|
UTSW |
11 |
20,190,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4393:Cep68
|
UTSW |
11 |
20,188,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4557:Cep68
|
UTSW |
11 |
20,189,113 (GRCm39) |
intron |
probably benign |
|
|
R4581:Cep68
|
UTSW |
11 |
20,189,333 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4647:Cep68
|
UTSW |
11 |
20,189,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4887:Cep68
|
UTSW |
11 |
20,189,239 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5081:Cep68
|
UTSW |
11 |
20,188,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5658:Cep68
|
UTSW |
11 |
20,191,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6380:Cep68
|
UTSW |
11 |
20,180,498 (GRCm39) |
missense |
probably benign |
|
|
R7444:Cep68
|
UTSW |
11 |
20,189,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7455:Cep68
|
UTSW |
11 |
20,180,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7486:Cep68
|
UTSW |
11 |
20,192,166 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8075:Cep68
|
UTSW |
11 |
20,189,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8407:Cep68
|
UTSW |
11 |
20,190,446 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8501:Cep68
|
UTSW |
11 |
20,189,132 (GRCm39) |
missense |
unknown |
|
|
R8830:Cep68
|
UTSW |
11 |
20,180,418 (GRCm39) |
unclassified |
probably benign |
|
|
R8980:Cep68
|
UTSW |
11 |
20,190,390 (GRCm39) |
missense |
probably benign |
|
|
R9354:Cep68
|
UTSW |
11 |
20,188,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Cep68
|
UTSW |
11 |
20,190,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9597:Cep68
|
UTSW |
11 |
20,188,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9780:Cep68
|
UTSW |
11 |
20,192,142 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTAAGTCCTCTTCTTGGGTTTC -3'
(R):5'- GCTCTGGAACCTTTGGAACATC -3'
Sequencing Primer
(F):5'- GGTTTCTCTACTTACTGTGTTAAAGC -3'
(R):5'- TGTAACGAGATCTGATGCCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation