Incidental Mutation 'IGL02554:Cep68'
| ID |
298434 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cep68
|
| Ensembl Gene |
ENSMUSG00000044066 |
| Gene Name |
centrosomal protein 68 |
| Synonyms |
6030463E10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
IGL02554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
20177037-20199424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20190096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 305
(H305Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050611]
[ENSMUST00000109596]
[ENSMUST00000162811]
|
| AlphaFold |
Q8C0D9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050611
AA Change: H305Q
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: H305Q
| 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 |
possibly damaging
Transcript: ENSMUST00000109596
AA Change: H305Q
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: H305Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
SCOP:d1quua1
|
594 |
648 |
1e-2 |
SMART |
|
Blast:SPEC
|
605 |
646 |
6e-21 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161218
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162811
AA Change: H305Q
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: H305Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,830 (GRCm39) |
M586L |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,117,318 (GRCm39) |
D204G |
possibly damaging |
Het |
| Acox3 |
C |
A |
5: 35,765,710 (GRCm39) |
L588I |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,857,828 (GRCm39) |
L849I |
probably benign |
Het |
| Alkbh3 |
T |
G |
2: 93,826,692 (GRCm39) |
T170P |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,757,240 (GRCm39) |
H300L |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,786,173 (GRCm39) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,726,068 (GRCm39) |
S112P |
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,438,847 (GRCm39) |
G181D |
probably benign |
Het |
| Cimip4 |
A |
G |
15: 78,262,736 (GRCm39) |
M245T |
possibly damaging |
Het |
| Clptm1l |
A |
T |
13: 73,755,879 (GRCm39) |
D165V |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,159,704 (GRCm39) |
Y61H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,657,205 (GRCm39) |
M857K |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,407 (GRCm39) |
M836V |
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,180,314 (GRCm39) |
A755S |
possibly damaging |
Het |
| Helb |
G |
A |
10: 119,925,617 (GRCm39) |
T920M |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,797,306 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,994 (GRCm39) |
S152P |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,646,327 (GRCm39) |
Y784C |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,333,935 (GRCm39) |
C275* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,738,707 (GRCm39) |
S220P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,774,473 (GRCm39) |
|
probably null |
Het |
| Mllt1 |
T |
C |
17: 57,206,806 (GRCm39) |
D346G |
probably benign |
Het |
| Myef2 |
A |
C |
2: 124,942,345 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,079,991 (GRCm39) |
S1095G |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,512,651 (GRCm39) |
|
silent |
Het |
| Or10a3m |
A |
G |
7: 108,312,949 (GRCm39) |
M118V |
possibly damaging |
Het |
| Piwil2 |
G |
A |
14: 70,628,935 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,441,896 (GRCm39) |
F3612I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,075,644 (GRCm39) |
|
probably null |
Het |
| Scnn1b |
T |
C |
7: 121,516,746 (GRCm39) |
I495T |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,379,571 (GRCm39) |
V1087G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,481,786 (GRCm39) |
V91E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,946,685 (GRCm39) |
I29T |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,148,661 (GRCm39) |
N908I |
probably benign |
Het |
| Svopl |
A |
C |
6: 37,993,978 (GRCm39) |
I351S |
probably damaging |
Het |
| Syngr3 |
A |
G |
17: 24,905,302 (GRCm39) |
V198A |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,456,953 (GRCm39) |
Y622* |
probably null |
Het |
| Tkt |
T |
A |
14: 30,280,737 (GRCm39) |
M56K |
probably damaging |
Het |
| Trip10 |
T |
C |
17: 57,570,135 (GRCm39) |
V544A |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,409,995 (GRCm39) |
E195G |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,059,014 (GRCm39) |
P516S |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,581 (GRCm39) |
N255S |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,827,545 (GRCm39) |
T884A |
probably benign |
Het |
| Zdhhc2 |
A |
G |
8: 40,915,155 (GRCm39) |
N167S |
probably damaging |
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 |
|
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 |
|
R8388:Cep68
|
UTSW |
11 |
20,180,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation