Incidental Mutation 'IGL02229:Cspp1'
ID 285427
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) question?
Stock # IGL02229
Quality Score
Status
Chromosome 1
Chromosomal Location 10108212-10206993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10153781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 397 (S397P)
Ref Sequence ENSEMBL: ENSMUSP00000068804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071087] [ENSMUST00000186294]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071087
AA Change: S397P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: S397P

DomainStartEndE-ValueType
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: ENSMUST00000123261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153804
Predicted Effect possibly damaging
Transcript: ENSMUST00000186294
AA Change: S393P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: S393P

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000188249
Predicted Effect unknown
Transcript: ENSMUST00000188449
AA Change: S85P
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Cspp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16