Incidental Mutation 'R6924:Cep95'
| ID |
539804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep95
|
| Ensembl Gene |
ENSMUSG00000018372 |
| Gene Name |
centrosomal protein 95 |
| Synonyms |
4732496G21Rik, Ccdc45, F630025I20Rik |
| MMRRC Submission |
045042-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R6924 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106679466-106709687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106702023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 383
(M383T)
|
| 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: M383T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372
AA Change: M383T
| 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 |
possibly damaging
Transcript: ENSMUST00000103068
AA Change: M340T
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372
AA Change: M340T
| 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: 97.8%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
C |
4: 39,450,884 (GRCm39) |
H30P |
probably damaging |
Het |
| Abhd6 |
A |
T |
14: 8,049,850 (GRCm38) |
H213L |
possibly damaging |
Het |
| Adam22 |
T |
A |
5: 8,417,322 (GRCm39) |
N40I |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,231,224 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
C |
T |
2: 158,369,066 (GRCm39) |
R63C |
probably benign |
Het |
| Atf7ip |
T |
G |
6: 136,536,755 (GRCm39) |
|
probably null |
Het |
| Atg7 |
T |
C |
6: 114,686,172 (GRCm39) |
|
probably null |
Het |
| Car6 |
A |
C |
4: 150,273,713 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,259,667 (GRCm39) |
C302* |
probably null |
Het |
| Ccdc117 |
A |
T |
11: 5,484,255 (GRCm39) |
M195K |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,638,643 (GRCm39) |
E419G |
probably damaging |
Het |
| Cyp2d9 |
C |
G |
15: 82,339,413 (GRCm39) |
R272G |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,546,244 (GRCm39) |
M1380K |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,455,517 (GRCm39) |
S881G |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,793,248 (GRCm39) |
I1084N |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,878,981 (GRCm39) |
C21* |
probably null |
Het |
| Gemin4 |
A |
G |
11: 76,103,162 (GRCm39) |
L533P |
probably damaging |
Het |
| Gkn3 |
T |
C |
6: 87,365,784 (GRCm39) |
R12G |
probably benign |
Het |
| Gpr161 |
G |
T |
1: 165,149,188 (GRCm39) |
R519L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,481,092 (GRCm39) |
V535A |
possibly damaging |
Het |
| Gys1 |
G |
A |
7: 45,093,059 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
C |
T |
5: 106,998,276 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,240,517 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,808,873 (GRCm39) |
Y738H |
unknown |
Het |
| Hycc1 |
T |
C |
5: 24,191,133 (GRCm39) |
|
probably null |
Het |
| Igsf23 |
A |
G |
7: 19,675,684 (GRCm39) |
S141P |
possibly damaging |
Het |
| Lamc3 |
A |
C |
2: 31,828,081 (GRCm39) |
M1423L |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,970,484 (GRCm39) |
T200A |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,784 (GRCm39) |
V899A |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,421,145 (GRCm39) |
R36S |
possibly damaging |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,871 (GRCm39) |
K181E |
possibly damaging |
Het |
| Muc2 |
G |
A |
7: 141,284,077 (GRCm39) |
V786M |
possibly damaging |
Het |
| Nacc2 |
T |
C |
2: 25,980,041 (GRCm39) |
T132A |
probably damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,250,774 (GRCm39) |
I15K |
probably damaging |
Het |
| Or10p22 |
T |
G |
10: 128,825,960 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or4k15c |
A |
G |
14: 50,321,307 (GRCm39) |
I277T |
possibly damaging |
Het |
| Otoa |
A |
T |
7: 120,730,724 (GRCm39) |
|
probably null |
Het |
| Otogl |
A |
G |
10: 107,644,502 (GRCm39) |
I1248T |
probably damaging |
Het |
| Ppp1r17 |
T |
A |
6: 56,003,007 (GRCm39) |
D32E |
probably damaging |
Het |
| Relt |
A |
C |
7: 100,496,468 (GRCm39) |
V427G |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,546,788 (GRCm39) |
V256D |
probably damaging |
Het |
| Samhd1 |
T |
C |
2: 156,951,403 (GRCm39) |
T445A |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,821,646 (GRCm39) |
I189V |
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,112,262 (GRCm39) |
D1793E |
probably damaging |
Het |
| Sim1 |
C |
T |
10: 50,784,635 (GRCm39) |
T137I |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,800,218 (GRCm39) |
D253E |
possibly damaging |
Het |
| Stmnd1 |
T |
C |
13: 46,452,969 (GRCm39) |
V215A |
probably benign |
Het |
| Tcl1 |
A |
G |
12: 105,185,015 (GRCm39) |
L65P |
probably damaging |
Het |
| Tiam2 |
A |
C |
17: 3,558,070 (GRCm39) |
K1231N |
probably damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,206,717 (GRCm39) |
Y476C |
probably damaging |
Het |
| Trim63 |
T |
C |
4: 134,048,572 (GRCm39) |
S194P |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,379 (GRCm39) |
I59N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,613,198 (GRCm39) |
F7S |
probably benign |
Het |
| Zfp775 |
T |
A |
6: 48,596,589 (GRCm39) |
H154Q |
probably damaging |
Het |
| Zfp804b |
C |
T |
5: 6,819,902 (GRCm39) |
V1018I |
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 |
|
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'- GCGCAAAGAAATCCTAGCTC -3'
(R):5'- TGGAAAGCTATCATGGACGC -3'
Sequencing Primer
(F):5'- GCGCAAAGAAATCCTAGCTCAAATC -3'
(R):5'- GGAAAGCTATCATGGACGCTTCATTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation