Incidental Mutation 'IGL01384:Cspp1'
| ID |
78971 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cspp1
|
| Ensembl Gene |
ENSMUSG00000056763 |
| Gene Name |
centrosome and spindle pole associated protein 1 |
| Synonyms |
2310020J12Rik, 4930413O22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
IGL01384
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
10108212-10206993 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10186905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 129
(R129H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071087]
[ENSMUST00000186294]
[ENSMUST00000187226]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071087
AA Change: R897H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: R897H
| 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 |
noncoding transcript
Transcript: ENSMUST00000136283
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186294
AA Change: R842H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: R842H
| 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 |
probably damaging
Transcript: ENSMUST00000187226
AA Change: R129H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140076
Gene: ENSMUSG00000056763
AA Change: R129H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
37 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
135 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,575,749 (GRCm39) |
R683G |
possibly damaging |
Het |
| Abca9 |
A |
G |
11: 110,036,463 (GRCm39) |
S549P |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,174,273 (GRCm39) |
S17P |
possibly damaging |
Het |
| Ankrd36 |
C |
A |
11: 5,578,348 (GRCm39) |
H546N |
probably benign |
Het |
| Aopep |
C |
T |
13: 63,338,290 (GRCm39) |
|
probably benign |
Het |
| Bivm |
T |
G |
1: 44,165,907 (GRCm39) |
I119S |
possibly damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,453,915 (GRCm39) |
D1693Y |
probably damaging |
Het |
| Clcn6 |
G |
A |
4: 148,103,423 (GRCm39) |
R242C |
probably damaging |
Het |
| Clec4a2 |
A |
C |
6: 123,104,947 (GRCm39) |
K79T |
probably damaging |
Het |
| Cyp2c40 |
A |
T |
19: 39,801,027 (GRCm39) |
M47K |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,990,401 (GRCm39) |
D280G |
probably benign |
Het |
| Fbxo38 |
A |
G |
18: 62,655,487 (GRCm39) |
S400P |
probably damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,305,242 (GRCm39) |
I184M |
probably benign |
Het |
| Gm9949 |
A |
T |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
| Grtp1 |
A |
T |
8: 13,229,629 (GRCm39) |
V253E |
probably damaging |
Het |
| Irag1 |
A |
G |
7: 110,525,708 (GRCm39) |
V148A |
possibly damaging |
Het |
| Lamb1 |
T |
A |
12: 31,370,930 (GRCm39) |
M1327K |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,313,846 (GRCm39) |
D2295V |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,284,156 (GRCm39) |
D3874G |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,400,555 (GRCm39) |
I509F |
unknown |
Het |
| Mug1 |
A |
C |
6: 121,826,433 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,208,916 (GRCm39) |
L1903Q |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,759,322 (GRCm39) |
A1229S |
probably benign |
Het |
| Myorg |
G |
T |
4: 41,498,151 (GRCm39) |
A493E |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,421,152 (GRCm39) |
I721N |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,858 (GRCm39) |
I287N |
probably damaging |
Het |
| Pla2g2c |
A |
G |
4: 138,471,012 (GRCm39) |
K131R |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 92,000,268 (GRCm39) |
I557N |
probably benign |
Het |
| Sirpb1b |
T |
A |
3: 15,613,789 (GRCm39) |
N98Y |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,872,365 (GRCm39) |
V1182A |
probably benign |
Het |
| Tagap1 |
T |
C |
17: 7,224,282 (GRCm39) |
D138G |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,477,477 (GRCm39) |
F567I |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,285,425 (GRCm39) |
D1987V |
possibly damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,446 (GRCm39) |
I37N |
probably damaging |
Het |
| Wif1 |
A |
T |
10: 120,920,855 (GRCm39) |
T226S |
possibly damaging |
Het |
| Zfp428 |
A |
G |
7: 24,210,167 (GRCm39) |
D22G |
possibly damaging |
Het |
| Zfp521 |
A |
T |
18: 13,976,980 (GRCm39) |
N1144K |
probably benign |
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 |
|
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 |
|
|
R5081:Cspp1
|
UTSW |
1 |
10,117,691 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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 |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation