Incidental Mutation 'R9532:Cep95'
| ID |
719536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep95
|
| Ensembl Gene |
ENSMUSG00000018372 |
| Gene Name |
centrosomal protein 95 |
| Synonyms |
4732496G21Rik, Ccdc45, F630025I20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R9532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106679466-106709687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106687042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 117
(E117G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018516]
[ENSMUST00000103068]
|
| AlphaFold |
Q8BVV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018516
AA Change: E117G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: E117G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: E117G
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,350,397 (GRCm39) |
N165S |
unknown |
Het |
| 9530002B09Rik |
C |
A |
4: 122,596,133 (GRCm39) |
N121K |
unknown |
Het |
| Abca1 |
A |
T |
4: 53,109,284 (GRCm39) |
N141K |
probably benign |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,457,371 (GRCm39) |
N57S |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,338,246 (GRCm39) |
W1709R |
probably damaging |
Het |
| D17H6S53E |
T |
A |
17: 35,346,145 (GRCm39) |
S19T |
possibly damaging |
Het |
| Dab2 |
G |
T |
15: 6,451,762 (GRCm39) |
R126L |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 86,893,916 (GRCm39) |
D31G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,228,260 (GRCm39) |
L1678* |
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,212 (GRCm39) |
V628A |
probably damaging |
Het |
| Fgf8 |
A |
T |
19: 45,725,679 (GRCm39) |
V186E |
probably damaging |
Het |
| Fmnl2 |
A |
T |
2: 53,006,941 (GRCm39) |
Y751F |
unknown |
Het |
| Frmpd1 |
A |
T |
4: 45,278,886 (GRCm39) |
E537V |
|
Het |
| Garin3 |
A |
G |
11: 46,297,673 (GRCm39) |
T326A |
|
Het |
| Grin1 |
C |
T |
2: 25,187,909 (GRCm39) |
G529D |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,429,306 (GRCm39) |
T872I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,502,616 (GRCm39) |
I4240T |
probably benign |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,473,398 (GRCm39) |
Q6L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,897,229 (GRCm39) |
D1112E |
possibly damaging |
Het |
| Ighv1-82 |
T |
G |
12: 115,916,158 (GRCm39) |
R117S |
probably damaging |
Het |
| Iqch |
G |
A |
9: 63,389,935 (GRCm39) |
A748V |
|
Het |
| Kcnd2 |
G |
T |
6: 21,727,180 (GRCm39) |
A578S |
probably benign |
Het |
| Klc2 |
A |
G |
19: 5,161,565 (GRCm39) |
V315A |
possibly damaging |
Het |
| Klhl20 |
A |
T |
1: 160,937,329 (GRCm39) |
D15E |
probably benign |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,024 (GRCm39) |
I96F |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,522,168 (GRCm39) |
T143A |
probably benign |
Het |
| Nup93 |
G |
A |
8: 95,041,249 (GRCm39) |
A796T |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,628,475 (GRCm39) |
V513A |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,746 (GRCm39) |
V100A |
probably benign |
Het |
| Or52e4 |
A |
T |
7: 104,706,275 (GRCm39) |
H274L |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,008,206 (GRCm39) |
V119A |
possibly damaging |
Het |
| Pkmyt1 |
T |
C |
17: 23,954,691 (GRCm39) |
I427T |
probably benign |
Het |
| Polr1g |
A |
T |
7: 19,091,817 (GRCm39) |
S97T |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,629,866 (GRCm39) |
D222G |
probably null |
Het |
| Prickle2 |
A |
T |
6: 92,683,096 (GRCm39) |
S11T |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,385,608 (GRCm39) |
A930T |
probably benign |
Het |
| Prss40 |
G |
T |
1: 34,597,106 (GRCm39) |
H147Q |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,099,794 (GRCm39) |
D1766V |
probably benign |
Het |
| Qrich1 |
C |
T |
9: 108,411,519 (GRCm39) |
T348M |
probably benign |
Het |
| Slc20a1 |
T |
C |
2: 129,041,933 (GRCm39) |
Y99H |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,333 (GRCm39) |
V352A |
probably damaging |
Het |
| Ttll3 |
A |
G |
6: 113,385,970 (GRCm39) |
Q601R |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,507,078 (GRCm39) |
|
probably null |
Het |
| Washc4 |
A |
G |
10: 83,417,258 (GRCm39) |
|
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,342,541 (GRCm39) |
M191K |
possibly damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,894 (GRCm39) |
N624S |
probably benign |
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 |
|
R6540:Cep95
|
UTSW |
11 |
106,692,328 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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'- GTCTTCAGACACAGGCAGAC -3'
(R):5'- TTTAAGAGCCACATCCAAGTTAGC -3'
Sequencing Primer
(F):5'- AGTTTATACCTCTCTTCCCAAACAG -3'
(R):5'- TCCAAGTTAGCAAAGCGTATAATGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation