Incidental Mutation 'R6540:Cep95'
ID |
520708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep95
|
Ensembl Gene |
ENSMUSG00000018372 |
Gene Name |
centrosomal protein 95 |
Synonyms |
4732496G21Rik, Ccdc45, F630025I20Rik |
MMRRC Submission |
044666-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R6540 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
106679466-106709687 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106692328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 169
(D169E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018516]
[ENSMUST00000103068]
|
AlphaFold |
Q8BVV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018516
AA Change: D169E
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000018516 Gene: ENSMUSG00000018372 AA Change: D169E
Domain | Start | End | E-Value | Type |
low complexity region
|
389 |
407 |
N/A |
INTRINSIC |
coiled coil region
|
584 |
633 |
N/A |
INTRINSIC |
coiled coil region
|
701 |
793 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103068
AA Change: D169E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099357 Gene: ENSMUSG00000018372 AA Change: D169E
Domain | Start | End | E-Value | Type |
low complexity region
|
346 |
364 |
N/A |
INTRINSIC |
coiled coil region
|
541 |
590 |
N/A |
INTRINSIC |
coiled coil region
|
658 |
750 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,660,779 (GRCm39) |
Y143H |
possibly damaging |
Het |
Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,679,567 (GRCm39) |
V849A |
possibly damaging |
Het |
Ash1l |
A |
T |
3: 88,892,368 (GRCm39) |
T1416S |
probably damaging |
Het |
Cdc5l |
A |
G |
17: 45,737,570 (GRCm39) |
W63R |
probably damaging |
Het |
Col14a1 |
A |
C |
15: 55,235,977 (GRCm39) |
N297T |
unknown |
Het |
Cp |
T |
C |
3: 20,018,693 (GRCm39) |
|
probably null |
Het |
Fbxl19 |
G |
T |
7: 127,347,525 (GRCm39) |
|
probably benign |
Het |
Flnc |
T |
C |
6: 29,446,376 (GRCm39) |
V931A |
possibly damaging |
Het |
Foxj2 |
A |
G |
6: 122,810,202 (GRCm39) |
H187R |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,441,634 (GRCm39) |
V1199I |
probably benign |
Het |
Ighv7-4 |
A |
G |
12: 114,186,470 (GRCm39) |
Y101H |
possibly damaging |
Het |
Igkv10-94 |
T |
A |
6: 68,681,507 (GRCm39) |
Y111F |
probably benign |
Het |
Lin28a |
C |
T |
4: 133,745,372 (GRCm39) |
V74M |
possibly damaging |
Het |
Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
Mroh9 |
T |
G |
1: 162,866,541 (GRCm39) |
T701P |
possibly damaging |
Het |
Ndst4 |
A |
T |
3: 125,515,801 (GRCm39) |
K309* |
probably null |
Het |
Nlrp9a |
T |
C |
7: 26,256,817 (GRCm39) |
V145A |
possibly damaging |
Het |
Or2l5 |
T |
C |
16: 19,333,571 (GRCm39) |
I272V |
probably benign |
Het |
Ovgp1 |
A |
T |
3: 105,893,897 (GRCm39) |
K557* |
probably null |
Het |
Pde4b |
T |
C |
4: 102,459,073 (GRCm39) |
L546P |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,794,951 (GRCm39) |
V2213M |
probably damaging |
Het |
Plekhh1 |
A |
G |
12: 79,111,263 (GRCm39) |
I542V |
probably benign |
Het |
Ppan |
A |
G |
9: 20,802,506 (GRCm39) |
|
probably null |
Het |
Prdm15 |
A |
T |
16: 97,637,005 (GRCm39) |
V104E |
probably benign |
Het |
Semp2l2a |
A |
C |
8: 13,887,573 (GRCm39) |
S173A |
probably benign |
Het |
Sik3 |
A |
G |
9: 46,123,351 (GRCm39) |
H1050R |
probably benign |
Het |
Slc35d3 |
A |
G |
10: 19,725,086 (GRCm39) |
F257L |
possibly damaging |
Het |
Tfip11 |
A |
G |
5: 112,482,263 (GRCm39) |
|
probably null |
Het |
Tmem132d |
A |
G |
5: 128,345,596 (GRCm39) |
S309P |
possibly damaging |
Het |
Tmem87a |
T |
C |
2: 120,234,400 (GRCm39) |
I48V |
probably benign |
Het |
V1rd19 |
T |
A |
7: 23,703,056 (GRCm39) |
L174* |
probably null |
Het |
Zfp729a |
A |
G |
13: 67,767,767 (GRCm39) |
C821R |
possibly damaging |
Het |
Zfp970 |
C |
A |
2: 177,167,388 (GRCm39) |
H321N |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,804,055 (GRCm39) |
L2599P |
probably damaging |
Het |
|
Other mutations in Cep95 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00834:Cep95
|
APN |
11 |
106,709,043 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00988:Cep95
|
APN |
11 |
106,697,220 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01306:Cep95
|
APN |
11 |
106,704,641 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01995:Cep95
|
APN |
11 |
106,697,197 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02541:Cep95
|
APN |
11 |
106,706,407 (GRCm39) |
missense |
probably damaging |
0.99 |
ANU23:Cep95
|
UTSW |
11 |
106,704,641 (GRCm39) |
missense |
probably benign |
0.00 |
R0071:Cep95
|
UTSW |
11 |
106,681,554 (GRCm39) |
unclassified |
probably benign |
|
R0071:Cep95
|
UTSW |
11 |
106,681,554 (GRCm39) |
unclassified |
probably benign |
|
R0255:Cep95
|
UTSW |
11 |
106,702,097 (GRCm39) |
missense |
probably benign |
0.10 |
R0427:Cep95
|
UTSW |
11 |
106,681,578 (GRCm39) |
missense |
probably benign |
0.18 |
R0436:Cep95
|
UTSW |
11 |
106,709,511 (GRCm39) |
missense |
probably null |
0.98 |
R0583:Cep95
|
UTSW |
11 |
106,705,449 (GRCm39) |
missense |
probably benign |
|
R0831:Cep95
|
UTSW |
11 |
106,705,530 (GRCm39) |
missense |
probably benign |
0.00 |
R1459:Cep95
|
UTSW |
11 |
106,708,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R1589:Cep95
|
UTSW |
11 |
106,690,930 (GRCm39) |
missense |
probably benign |
0.00 |
R1627:Cep95
|
UTSW |
11 |
106,700,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R1768:Cep95
|
UTSW |
11 |
106,697,177 (GRCm39) |
nonsense |
probably null |
|
R1914:Cep95
|
UTSW |
11 |
106,705,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R1915:Cep95
|
UTSW |
11 |
106,705,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:Cep95
|
UTSW |
11 |
106,681,554 (GRCm39) |
unclassified |
probably benign |
|
R2495:Cep95
|
UTSW |
11 |
106,700,108 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3157:Cep95
|
UTSW |
11 |
106,700,013 (GRCm39) |
splice site |
probably benign |
|
R3158:Cep95
|
UTSW |
11 |
106,700,013 (GRCm39) |
splice site |
probably benign |
|
R3712:Cep95
|
UTSW |
11 |
106,702,112 (GRCm39) |
nonsense |
probably null |
|
R3881:Cep95
|
UTSW |
11 |
106,697,118 (GRCm39) |
missense |
probably damaging |
0.98 |
R4739:Cep95
|
UTSW |
11 |
106,706,560 (GRCm39) |
missense |
probably benign |
0.34 |
R4908:Cep95
|
UTSW |
11 |
106,702,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Cep95
|
UTSW |
11 |
106,707,480 (GRCm39) |
splice site |
probably null |
|
R5913:Cep95
|
UTSW |
11 |
106,709,335 (GRCm39) |
unclassified |
probably benign |
|
R5925:Cep95
|
UTSW |
11 |
106,703,227 (GRCm39) |
missense |
probably benign |
0.00 |
R6291:Cep95
|
UTSW |
11 |
106,706,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R6924:Cep95
|
UTSW |
11 |
106,702,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R6985:Cep95
|
UTSW |
11 |
106,709,529 (GRCm39) |
missense |
probably damaging |
0.99 |
R7156:Cep95
|
UTSW |
11 |
106,700,050 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7940:Cep95
|
UTSW |
11 |
106,686,974 (GRCm39) |
missense |
probably benign |
|
R8348:Cep95
|
UTSW |
11 |
106,704,593 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8509:Cep95
|
UTSW |
11 |
106,695,876 (GRCm39) |
missense |
probably benign |
0.08 |
R8849:Cep95
|
UTSW |
11 |
106,707,630 (GRCm39) |
missense |
|
|
R9284:Cep95
|
UTSW |
11 |
106,704,624 (GRCm39) |
missense |
probably benign |
|
R9532:Cep95
|
UTSW |
11 |
106,687,042 (GRCm39) |
missense |
probably damaging |
0.98 |
R9673:Cep95
|
UTSW |
11 |
106,703,322 (GRCm39) |
missense |
probably benign |
0.05 |
X0028:Cep95
|
UTSW |
11 |
106,703,236 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGCTGTTTCCACCTTGC -3'
(R):5'- CTGAAGCTCTAGCATCTCAACC -3'
Sequencing Primer
(F):5'- CTTTAAGCATGGTAGGCAAGTACTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
Posted On |
2018-06-06 |