Incidental Mutation 'R5658:Cep68'
ID |
443938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep68
|
Ensembl Gene |
ENSMUSG00000044066 |
Gene Name |
centrosomal protein 68 |
Synonyms |
6030463E10Rik |
MMRRC Submission |
043172-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
R5658 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
20177037-20199424 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 20191885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050611]
[ENSMUST00000050611]
[ENSMUST00000050611]
[ENSMUST00000050611]
[ENSMUST00000109596]
[ENSMUST00000109596]
[ENSMUST00000109596]
[ENSMUST00000109596]
[ENSMUST00000162811]
[ENSMUST00000162811]
[ENSMUST00000162811]
[ENSMUST00000162811]
|
AlphaFold |
Q8C0D9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050611
|
SMART Domains |
Protein: ENSMUSP00000054943 Gene: ENSMUSG00000044066
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 null
Transcript: ENSMUST00000050611
|
SMART Domains |
Protein: ENSMUSP00000054943 Gene: ENSMUSG00000044066
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 null
Transcript: ENSMUST00000050611
|
SMART Domains |
Protein: ENSMUSP00000054943 Gene: ENSMUSG00000044066
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 null
Transcript: ENSMUST00000050611
|
SMART Domains |
Protein: ENSMUSP00000054943 Gene: ENSMUSG00000044066
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 null
Transcript: ENSMUST00000109596
|
SMART Domains |
Protein: ENSMUSP00000105225 Gene: ENSMUSG00000044066
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 |
probably null
Transcript: ENSMUST00000109596
|
SMART Domains |
Protein: ENSMUSP00000105225 Gene: ENSMUSG00000044066
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 |
probably null
Transcript: ENSMUST00000109596
|
SMART Domains |
Protein: ENSMUSP00000105225 Gene: ENSMUSG00000044066
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 |
probably null
Transcript: ENSMUST00000109596
|
SMART Domains |
Protein: ENSMUSP00000105225 Gene: ENSMUSG00000044066
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 |
probably null
Transcript: ENSMUST00000162811
|
SMART Domains |
Protein: ENSMUSP00000125113 Gene: ENSMUSG00000044066
Domain | Start | End | E-Value | Type |
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162811
|
SMART Domains |
Protein: ENSMUSP00000125113 Gene: ENSMUSG00000044066
Domain | Start | End | E-Value | Type |
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162811
|
SMART Domains |
Protein: ENSMUSP00000125113 Gene: ENSMUSG00000044066
Domain | Start | End | E-Value | Type |
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162811
|
SMART Domains |
Protein: ENSMUSP00000125113 Gene: ENSMUSG00000044066
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522H14Rik |
A |
G |
4: 109,362,644 (GRCm39) |
L221P |
probably damaging |
Het |
Art2b |
A |
G |
7: 101,229,569 (GRCm39) |
V110A |
probably damaging |
Het |
Bccip |
A |
G |
7: 133,319,349 (GRCm39) |
I147V |
possibly damaging |
Het |
Bcl9l |
G |
T |
9: 44,420,466 (GRCm39) |
G1254W |
probably damaging |
Het |
Chst5 |
A |
G |
8: 112,617,422 (GRCm39) |
V66A |
probably damaging |
Het |
F5 |
C |
A |
1: 164,019,907 (GRCm39) |
T794K |
probably damaging |
Het |
Faf2 |
T |
C |
13: 54,789,347 (GRCm39) |
V55A |
probably benign |
Het |
Gm7535 |
T |
A |
17: 18,131,582 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,326,852 (GRCm39) |
V1471A |
possibly damaging |
Het |
Kbtbd4 |
T |
A |
2: 90,736,423 (GRCm39) |
S145T |
probably benign |
Het |
Kcnh3 |
C |
T |
15: 99,139,957 (GRCm39) |
P948S |
possibly damaging |
Het |
Kcnq1 |
G |
A |
7: 142,917,432 (GRCm39) |
|
probably null |
Het |
Kng2 |
T |
C |
16: 22,815,770 (GRCm39) |
|
probably null |
Het |
Krt9 |
A |
G |
11: 100,081,593 (GRCm39) |
I312T |
probably damaging |
Het |
Lactb2 |
T |
A |
1: 13,697,642 (GRCm39) |
H254L |
probably benign |
Het |
Lama5 |
A |
T |
2: 179,850,069 (GRCm39) |
Y187* |
probably null |
Het |
Ldc1 |
A |
G |
4: 130,114,234 (GRCm39) |
V61A |
probably benign |
Het |
Maf1 |
T |
C |
15: 76,237,420 (GRCm39) |
V154A |
possibly damaging |
Het |
Mlh1 |
A |
G |
9: 111,076,448 (GRCm39) |
V303A |
probably damaging |
Het |
Mrgprh |
A |
T |
17: 13,096,646 (GRCm39) |
K295N |
possibly damaging |
Het |
Mtrr |
G |
T |
13: 68,717,034 (GRCm39) |
A393D |
possibly damaging |
Het |
Myef2l |
C |
T |
3: 10,153,837 (GRCm39) |
S202F |
probably damaging |
Het |
Nebl |
A |
G |
2: 17,353,663 (GRCm39) |
Y963H |
probably damaging |
Het |
Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Pmpcb |
A |
G |
5: 21,943,999 (GRCm39) |
T78A |
probably damaging |
Het |
Ptprz1 |
G |
A |
6: 23,016,188 (GRCm39) |
R1677Q |
probably damaging |
Het |
Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,790,514 (GRCm39) |
|
probably null |
Het |
Sh3bp2 |
T |
A |
5: 34,714,291 (GRCm39) |
I162N |
probably damaging |
Het |
Slc38a10 |
C |
T |
11: 119,996,218 (GRCm39) |
A960T |
probably benign |
Het |
Sntb1 |
C |
T |
15: 55,655,472 (GRCm39) |
C248Y |
probably damaging |
Het |
Sowahc |
G |
A |
10: 59,059,049 (GRCm39) |
R395H |
possibly damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,120,869 (GRCm39) |
R416G |
probably benign |
Het |
Tnfaip6 |
A |
T |
2: 51,941,047 (GRCm39) |
Y196F |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
Try5 |
T |
C |
6: 41,289,361 (GRCm39) |
R72G |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,219,838 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTGATCCACAGTAGGTTC -3'
(R):5'- CAGATCAGCCCCTACATCTG -3'
Sequencing Primer
(F):5'- ATCCACAGTAGGTTCCTGGTG -3'
(R):5'- CCCCTACATCTGGGTGTTGAG -3'
|
Posted On |
2016-11-09 |