Incidental Mutation 'R4557:Cep68'
ID |
341914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep68
|
Ensembl Gene |
ENSMUSG00000044066 |
Gene Name |
centrosomal protein 68 |
Synonyms |
6030463E10Rik |
MMRRC Submission |
041784-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
R4557 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
20177037-20199424 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 20189113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105225
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050611]
[ENSMUST00000109596]
[ENSMUST00000162811]
|
AlphaFold |
Q8C0D9 |
Predicted Effect |
probably benign
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 benign
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 |
unknown
Transcript: ENSMUST00000162811
AA Change: I633K
|
SMART Domains |
Protein: ENSMUSP00000125113 Gene: ENSMUSG00000044066 AA Change: I633K
Domain | Start | End | E-Value | Type |
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
low complexity region
|
311 |
325 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
Acad11 |
T |
C |
9: 103,960,038 (GRCm39) |
F219L |
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 89,848,346 (GRCm39) |
Y659H |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
Apba1 |
T |
A |
19: 23,894,956 (GRCm39) |
I464N |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,165,914 (GRCm39) |
T1057A |
probably damaging |
Het |
Bcl11a |
A |
G |
11: 24,114,004 (GRCm39) |
E449G |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,463,384 (GRCm39) |
I1453L |
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,175,080 (GRCm39) |
E531V |
probably benign |
Het |
Dlgap1 |
C |
A |
17: 70,823,684 (GRCm39) |
T223K |
probably benign |
Het |
Exoc1 |
G |
A |
5: 76,709,290 (GRCm39) |
V24M |
probably damaging |
Het |
Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
Gm10100 |
G |
A |
10: 77,562,365 (GRCm39) |
|
probably benign |
Het |
Gpr149 |
A |
G |
3: 62,438,291 (GRCm39) |
V622A |
probably damaging |
Het |
Gpr149 |
A |
C |
3: 62,511,918 (GRCm39) |
M27R |
probably benign |
Het |
Ighv3-6 |
T |
C |
12: 114,251,818 (GRCm39) |
N101D |
probably benign |
Het |
Igkv4-78 |
A |
G |
6: 69,036,755 (GRCm39) |
S93P |
possibly damaging |
Het |
Kmt2c |
A |
T |
5: 25,505,313 (GRCm39) |
W3332R |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
Mcrs1 |
A |
G |
15: 99,141,028 (GRCm39) |
I459T |
probably benign |
Het |
Mdn1 |
G |
T |
4: 32,754,437 (GRCm39) |
C4646F |
probably damaging |
Het |
Med17 |
T |
C |
9: 15,182,993 (GRCm39) |
K351E |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,558,647 (GRCm39) |
|
probably benign |
Het |
Or14j8 |
C |
A |
17: 38,263,142 (GRCm39) |
A258S |
probably benign |
Het |
Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,425 (GRCm39) |
V3E |
probably benign |
Het |
Or6c69 |
A |
G |
10: 129,747,398 (GRCm39) |
Y250H |
probably damaging |
Het |
Phrf1 |
C |
T |
7: 140,838,842 (GRCm39) |
|
probably benign |
Het |
Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
Prdm16 |
T |
A |
4: 154,613,284 (GRCm39) |
M48L |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,688,976 (GRCm39) |
E923G |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,414,886 (GRCm39) |
S2075R |
possibly damaging |
Het |
Sft2d2 |
A |
G |
1: 165,011,553 (GRCm39) |
C114R |
probably damaging |
Het |
Sipa1l2 |
T |
G |
8: 126,191,154 (GRCm39) |
R945S |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,028,561 (GRCm39) |
N517S |
probably damaging |
Het |
Slc44a2 |
T |
G |
9: 21,258,079 (GRCm39) |
L443R |
possibly damaging |
Het |
Smok4a |
T |
C |
17: 13,746,643 (GRCm39) |
|
noncoding transcript |
Het |
Snx18 |
A |
G |
13: 113,754,364 (GRCm39) |
S190P |
probably damaging |
Het |
Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
Ttc27 |
T |
G |
17: 75,136,544 (GRCm39) |
S584A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,779,359 (GRCm39) |
Y1174N |
probably damaging |
Het |
Zbtb44 |
T |
G |
9: 30,975,544 (GRCm39) |
S391R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGACCACTAAACTTTCTCTGCAG -3'
(R):5'- TCGGGGTCTCTTCAAAACCAC -3'
Sequencing Primer
(F):5'- ACTAAACTTTCTCTGCAGAAAAGC -3'
(R):5'- GGGGTCTCTTCAAAACCACTGAAAAC -3'
|
Posted On |
2015-09-24 |