Incidental Mutation 'R5081:Cspp1'
| ID |
387105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cspp1
|
| Ensembl Gene |
ENSMUSG00000056763 |
| Gene Name |
centrosome and spindle pole associated protein 1 |
| Synonyms |
2310020J12Rik, 4930413O22Rik |
| MMRRC Submission |
042670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R5081 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
10108212-10206993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10117691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 48
(I48V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071087]
[ENSMUST00000117415]
[ENSMUST00000118263]
[ENSMUST00000119714]
[ENSMUST00000122156]
[ENSMUST00000186294]
[ENSMUST00000155974]
[ENSMUST00000191012]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071087
AA Change: I48V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: I48V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
|
coiled coil region
|
349 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
484 |
N/A |
INTRINSIC |
|
coiled coil region
|
568 |
610 |
N/A |
INTRINSIC |
|
Pfam:CCDC66
|
661 |
810 |
2e-11 |
PFAM |
|
coiled coil region
|
866 |
903 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117415
AA Change: I48V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112800
Gene: ENSMUSG00000056763
AA Change: I48V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118263
AA Change: I48V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112476
Gene: ENSMUSG00000056763
AA Change: I48V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119714
AA Change: I48V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114091
Gene: ENSMUSG00000056763
AA Change: I48V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122156
AA Change: I48V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113663
Gene: ENSMUSG00000056763
AA Change: I48V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143606
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186294
AA Change: I36V
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: I36V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
266 |
281 |
N/A |
INTRINSIC |
|
coiled coil region
|
345 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
480 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
567 |
748 |
4e-3 |
SMART |
|
coiled coil region
|
811 |
848 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155974
AA Change: I48V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117726
Gene: ENSMUSG00000056763
AA Change: I48V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191521
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191012
AA Change: I48V
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140856
Gene: ENSMUSG00000056763
AA Change: I48V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190063
|
| Meta Mutation Damage Score |
0.1086 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
93% (65/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
| Aig1 |
A |
G |
10: 13,677,644 (GRCm39) |
I116T |
probably benign |
Het |
| Alox12 |
A |
T |
11: 70,146,140 (GRCm39) |
|
probably null |
Het |
| Ap3s1 |
T |
A |
18: 46,887,497 (GRCm39) |
D43E |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,299,059 (GRCm39) |
M2T |
possibly damaging |
Het |
| Asah2 |
T |
A |
19: 31,991,708 (GRCm39) |
E451V |
probably benign |
Het |
| Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
| Ass1 |
G |
A |
2: 31,378,665 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
A |
G |
9: 72,906,360 (GRCm39) |
T39A |
possibly damaging |
Het |
| Cd101 |
T |
A |
3: 100,911,021 (GRCm39) |
Y879F |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh23 |
T |
C |
10: 60,272,586 (GRCm39) |
T530A |
possibly damaging |
Het |
| Cep68 |
G |
T |
11: 20,188,477 (GRCm39) |
Q643K |
probably damaging |
Het |
| Ces1c |
A |
G |
8: 93,854,197 (GRCm39) |
S113P |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,056,232 (GRCm39) |
I278T |
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,842,402 (GRCm39) |
D1440G |
unknown |
Het |
| Ctsj |
T |
A |
13: 61,151,664 (GRCm39) |
S85C |
possibly damaging |
Het |
| Cyp39a1 |
C |
A |
17: 44,057,488 (GRCm39) |
D442E |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,868,292 (GRCm39) |
F664Y |
probably damaging |
Het |
| Gpcpd1 |
A |
T |
2: 132,389,622 (GRCm39) |
H244Q |
probably benign |
Het |
| Gtf3a |
T |
A |
5: 146,888,092 (GRCm39) |
V131E |
probably benign |
Het |
| Gtpbp3 |
A |
T |
8: 71,943,026 (GRCm39) |
R147W |
probably damaging |
Het |
| H2-Oa |
A |
T |
17: 34,313,344 (GRCm39) |
I132F |
probably damaging |
Het |
| Hsd17b8 |
G |
A |
17: 34,246,552 (GRCm39) |
|
probably benign |
Het |
| Idi1 |
T |
A |
13: 8,937,963 (GRCm39) |
C91* |
probably null |
Het |
| Itga11 |
A |
G |
9: 62,662,478 (GRCm39) |
I484V |
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,628,694 (GRCm39) |
S101N |
probably damaging |
Het |
| Larp4 |
G |
A |
15: 99,870,898 (GRCm39) |
|
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,495,970 (GRCm39) |
L390P |
probably damaging |
Het |
| Morc1 |
T |
G |
16: 48,322,715 (GRCm39) |
S337R |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,786,026 (GRCm39) |
R1236G |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,396 (GRCm39) |
I138T |
possibly damaging |
Het |
| Nnt |
T |
C |
13: 119,502,936 (GRCm39) |
N489S |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,617,136 (GRCm39) |
I711F |
probably benign |
Het |
| Ntrk3 |
A |
G |
7: 78,227,522 (GRCm39) |
S4P |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,464,607 (GRCm39) |
T1605A |
possibly damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,655 (GRCm39) |
I214V |
possibly damaging |
Het |
| Or7g32 |
A |
G |
9: 19,408,557 (GRCm39) |
E171G |
probably benign |
Het |
| Pank1 |
T |
C |
19: 34,856,316 (GRCm39) |
H54R |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,917,472 (GRCm39) |
I530V |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,480,405 (GRCm39) |
T709A |
probably benign |
Het |
| Qsox1 |
G |
T |
1: 155,688,581 (GRCm39) |
|
probably benign |
Het |
| Rbm14 |
A |
G |
19: 4,852,823 (GRCm39) |
S520P |
probably benign |
Het |
| Rbm15b |
G |
A |
9: 106,762,120 (GRCm39) |
R683C |
probably benign |
Het |
| Rhbdd2 |
T |
A |
5: 135,664,876 (GRCm39) |
V69D |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,438,576 (GRCm39) |
E27G |
possibly damaging |
Het |
| Scn4a |
G |
A |
11: 106,239,553 (GRCm39) |
P153L |
probably damaging |
Het |
| Serpinb6d |
A |
T |
13: 33,855,230 (GRCm39) |
R301S |
probably benign |
Het |
| Sf3a2 |
C |
A |
10: 80,640,275 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,767 (GRCm39) |
D400G |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 35,915,460 (GRCm39) |
S2025G |
possibly damaging |
Het |
| Ttc16 |
A |
T |
2: 32,657,988 (GRCm39) |
D476E |
probably damaging |
Het |
| Ttc9c |
A |
T |
19: 8,793,396 (GRCm39) |
C81* |
probably null |
Het |
| Ulk2 |
G |
A |
11: 61,694,488 (GRCm39) |
P474L |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,722 (GRCm39) |
C104R |
probably damaging |
Het |
| Vwa2 |
C |
T |
19: 56,897,752 (GRCm39) |
H686Y |
probably damaging |
Het |
|
| Other mutations in Cspp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Cspp1
|
APN |
1 |
10,182,776 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01070:Cspp1
|
APN |
1 |
10,158,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01384:Cspp1
|
APN |
1 |
10,186,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01400:Cspp1
|
APN |
1 |
10,156,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01893:Cspp1
|
APN |
1 |
10,204,366 (GRCm39) |
splice site |
probably null |
|
|
IGL01909:Cspp1
|
APN |
1 |
10,136,886 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02229:Cspp1
|
APN |
1 |
10,153,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02397:Cspp1
|
APN |
1 |
10,178,690 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02983:Cspp1
|
APN |
1 |
10,197,750 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03352:Cspp1
|
APN |
1 |
10,117,662 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4453001:Cspp1
|
UTSW |
1 |
10,145,097 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0312:Cspp1
|
UTSW |
1 |
10,129,054 (GRCm39) |
splice site |
probably benign |
|
|
R0782:Cspp1
|
UTSW |
1 |
10,200,199 (GRCm39) |
splice site |
probably benign |
|
|
R0931:Cspp1
|
UTSW |
1 |
10,174,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1499:Cspp1
|
UTSW |
1 |
10,159,191 (GRCm39) |
splice site |
probably null |
|
|
R1553:Cspp1
|
UTSW |
1 |
10,156,122 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1613:Cspp1
|
UTSW |
1 |
10,203,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1644:Cspp1
|
UTSW |
1 |
10,196,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2042:Cspp1
|
UTSW |
1 |
10,182,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2090:Cspp1
|
UTSW |
1 |
10,160,493 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2178:Cspp1
|
UTSW |
1 |
10,174,471 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2247:Cspp1
|
UTSW |
1 |
10,136,685 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2680:Cspp1
|
UTSW |
1 |
10,174,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3803:Cspp1
|
UTSW |
1 |
10,196,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Cspp1
|
UTSW |
1 |
10,204,452 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4531:Cspp1
|
UTSW |
1 |
10,137,072 (GRCm39) |
intron |
probably benign |
|
|
R4906:Cspp1
|
UTSW |
1 |
10,152,553 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4960:Cspp1
|
UTSW |
1 |
10,196,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Cspp1
|
UTSW |
1 |
10,196,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Cspp1
|
UTSW |
1 |
10,196,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Cspp1
|
UTSW |
1 |
10,153,742 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4979:Cspp1
|
UTSW |
1 |
10,196,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Cspp1
|
UTSW |
1 |
10,196,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Cspp1
|
UTSW |
1 |
10,196,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Cspp1
|
UTSW |
1 |
10,136,744 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5057:Cspp1
|
UTSW |
1 |
10,145,186 (GRCm39) |
splice site |
probably benign |
|
|
R5119:Cspp1
|
UTSW |
1 |
10,196,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Cspp1
|
UTSW |
1 |
10,196,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5146:Cspp1
|
UTSW |
1 |
10,145,101 (GRCm39) |
nonsense |
probably null |
|
|
R5373:Cspp1
|
UTSW |
1 |
10,204,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Cspp1
|
UTSW |
1 |
10,204,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Cspp1
|
UTSW |
1 |
10,147,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6291:Cspp1
|
UTSW |
1 |
10,134,559 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6382:Cspp1
|
UTSW |
1 |
10,153,700 (GRCm39) |
splice site |
probably null |
|
|
R7135:Cspp1
|
UTSW |
1 |
10,159,161 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7388:Cspp1
|
UTSW |
1 |
10,135,572 (GRCm39) |
nonsense |
probably null |
|
|
R7647:Cspp1
|
UTSW |
1 |
10,206,162 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7722:Cspp1
|
UTSW |
1 |
10,145,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8039:Cspp1
|
UTSW |
1 |
10,183,238 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8087:Cspp1
|
UTSW |
1 |
10,174,489 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8339:Cspp1
|
UTSW |
1 |
10,183,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Cspp1
|
UTSW |
1 |
10,160,516 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8774:Cspp1
|
UTSW |
1 |
10,183,139 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8774-TAIL:Cspp1
|
UTSW |
1 |
10,183,139 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8979:Cspp1
|
UTSW |
1 |
10,134,630 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9068:Cspp1
|
UTSW |
1 |
10,147,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9071:Cspp1
|
UTSW |
1 |
10,159,121 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9080:Cspp1
|
UTSW |
1 |
10,183,919 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9139:Cspp1
|
UTSW |
1 |
10,186,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9630:Cspp1
|
UTSW |
1 |
10,108,292 (GRCm39) |
start gained |
probably benign |
|
|
R9685:Cspp1
|
UTSW |
1 |
10,196,639 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1088:Cspp1
|
UTSW |
1 |
10,153,771 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1177:Cspp1
|
UTSW |
1 |
10,166,103 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCAGTGTACTTAATAGTAACTC -3'
(R):5'- ACCCCATTGCCATATGTAAGAC -3'
Sequencing Primer
(F):5'- GGTATCAGAACAGTTGTTACAGTATG -3'
(R):5'- GCCATATGTAAGACTCAAAAATGAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation