Incidental Mutation 'R4292:Cep68'
ID |
323127 |
Institutional Source |
Beutler Lab
|
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 # |
R4292 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
20177037-20199424 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 20190079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 311
(V311D)
|
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: V311D
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000054943 Gene: ENSMUSG00000044066 AA Change: V311D
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: V311D
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105225 Gene: ENSMUSG00000044066 AA Change: V311D
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 damaging
Transcript: ENSMUST00000162811
AA Change: V311D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125113 Gene: ENSMUSG00000044066 AA Change: V311D
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,772,977 (GRCm39) |
K1232E |
possibly damaging |
Het |
Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gcn1 |
G |
A |
5: 115,714,207 (GRCm39) |
A116T |
possibly damaging |
Het |
Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
Kif18a |
A |
T |
2: 109,128,471 (GRCm39) |
I376L |
probably damaging |
Het |
Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,085,723 (GRCm39) |
K1855R |
possibly damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
Or5b98 |
G |
A |
19: 12,931,520 (GRCm39) |
C189Y |
possibly damaging |
Het |
Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,097,834 (GRCm39) |
Y26C |
probably benign |
Het |
Pgm2l1 |
A |
G |
7: 99,899,508 (GRCm39) |
T41A |
probably damaging |
Het |
Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
Rrp12 |
T |
C |
19: 41,861,344 (GRCm39) |
|
probably null |
Het |
Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
Slco4c1 |
C |
G |
1: 96,772,381 (GRCm39) |
|
probably null |
Het |
Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
Tgfb2 |
T |
C |
1: 186,364,735 (GRCm39) |
H253R |
probably damaging |
Het |
Top3b |
A |
T |
16: 16,701,383 (GRCm39) |
I232F |
probably damaging |
Het |
Trim24 |
G |
A |
6: 37,877,627 (GRCm39) |
R39H |
possibly damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,656,320 (GRCm39) |
M851K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,762,855 (GRCm39) |
V3268A |
possibly damaging |
Het |
Unc79 |
A |
T |
12: 103,149,703 (GRCm39) |
Q2599L |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACAAGCTTGTGCCACC -3'
(R):5'- TACAGGCCTGGGTAAGAGAC -3'
Sequencing Primer
(F):5'- GTGCCACCCTGTTTCTGGAATATTC -3'
(R):5'- CTCCTTTCAGGCAGAATACTGGG -3'
|
Posted On |
2015-06-20 |