Incidental Mutation 'IGL01070:Cspp1'
ID 50196
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 # IGL01070
Quality Score
Status
Chromosome 1
Chromosomal Location 10108212-10206993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10158370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 494 (Y494H)
Ref Sequence ENSEMBL: ENSMUSP00000139775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071087] [ENSMUST00000186294]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000071087
AA Change: Y498H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: Y498H

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 probably damaging
Transcript: ENSMUST00000186294
AA Change: Y494H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: Y494H

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 probably benign
Transcript: ENSMUST00000188449
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
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adamts5 T C 16: 85,660,021 (GRCm39) H757R probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap3 A T 6: 126,842,842 (GRCm39) E487V possibly damaging Het
Bicd2 T C 13: 49,531,792 (GRCm39) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cma1 A G 14: 56,180,154 (GRCm39) S71P probably benign Het
Cyp39a1 A G 17: 43,993,913 (GRCm39) K191R probably benign Het
Efr3a G A 15: 65,724,927 (GRCm39) V507I probably benign Het
Fam178b C T 1: 36,603,484 (GRCm39) R489Q possibly damaging Het
Kcnj4 A G 15: 79,368,780 (GRCm39) L400P probably benign Het
Kif27 A G 13: 58,491,907 (GRCm39) Y411H probably damaging Het
Mstn A T 1: 53,101,156 (GRCm39) I78L possibly damaging Het
Nrap T C 19: 56,317,516 (GRCm39) D1377G probably damaging Het
Pramel5 T G 4: 143,997,842 (GRCm39) Y467S probably damaging Het
Prkg1 G A 19: 30,546,743 (GRCm39) probably benign Het
Rbfox1 A C 16: 7,124,307 (GRCm39) S219R possibly damaging Het
Rfng T C 11: 120,674,778 (GRCm39) N71D probably damaging Het
Rp1 T C 1: 4,415,461 (GRCm39) I1884V probably damaging Het
Rptn T A 3: 93,305,483 (GRCm39) Y939N possibly damaging Het
Sart1 A G 19: 5,433,979 (GRCm39) V322A probably benign Het
Shank3 T C 15: 89,433,619 (GRCm39) S1455P probably damaging Het
Smc5 T A 19: 23,208,965 (GRCm39) R703W possibly damaging Het
Sptan1 G A 2: 29,904,185 (GRCm39) probably null Het
Tecta T C 9: 42,306,299 (GRCm39) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm39) M685K probably benign Het
Trac A G 14: 54,458,223 (GRCm39) T82A probably benign Het
Trank1 A G 9: 111,195,861 (GRCm39) N1295S probably damaging Het
Ttc36 T C 9: 44,712,887 (GRCm39) probably null Het
Utp18 A T 11: 93,760,674 (GRCm39) S384T possibly damaging Het
Vmn1r64 C A 7: 5,886,941 (GRCm39) A201S probably benign Het
Vmn2r26 A T 6: 124,038,566 (GRCm39) I714F probably benign Het
Vps54 T A 11: 21,262,268 (GRCm39) V626D probably damaging Het
Wapl T C 14: 34,467,579 (GRCm39) probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Cspp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Cspp1 APN 1 10,182,776 (GRCm39) unclassified probably benign
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
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 2013-06-21