Incidental Mutation 'R6382:Cspp1'
ID 515349
Institutional Source Beutler Lab
Gene Symbol Cspp1
Ensembl Gene ENSMUSG00000056763
Gene Name centrosome and spindle pole associated protein 1
Synonyms 2310020J12Rik, 4930413O22Rik
MMRRC Submission 044531-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R6382 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 10108212-10206993 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 10153700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071087] [ENSMUST00000186294]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000071087
SMART Domains Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763

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 null
Transcript: ENSMUST00000186294
SMART Domains Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,418,850 (GRCm39) M148K probably benign Het
Aldoc T C 11: 78,216,568 (GRCm39) I242T probably benign Het
Camta2 T C 11: 70,562,867 (GRCm39) T927A probably damaging Het
Ccdc30 T C 4: 119,261,363 (GRCm39) R25G possibly damaging Het
Cdh16 T A 8: 105,348,175 (GRCm39) M181L possibly damaging Het
Clstn1 A T 4: 149,710,577 (GRCm39) probably null Het
Cnot6l C A 5: 96,276,858 (GRCm39) R110L probably damaging Het
Col7a1 G A 9: 108,804,461 (GRCm39) S2264N unknown Het
Cul1 T A 6: 47,479,373 (GRCm39) L213Q probably damaging Het
Cuta T C 17: 27,157,428 (GRCm39) Q124R probably benign Het
Cyp1a1 T A 9: 57,607,973 (GRCm39) N200K probably damaging Het
Dag1 C A 9: 108,085,336 (GRCm39) A602S possibly damaging Het
Ftdc1 T C 16: 58,434,273 (GRCm39) E148G possibly damaging Het
Gm4707 G A 17: 71,766,238 (GRCm39) probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
H2-T23 T C 17: 36,342,724 (GRCm39) Y138C probably damaging Het
Hnf4a A T 2: 163,410,926 (GRCm39) M408L probably benign Het
Hpse2 A G 19: 43,376,641 (GRCm39) L37P possibly damaging Het
Hsd17b6 A T 10: 127,827,196 (GRCm39) I292N probably damaging Het
Hsp90aa1 A T 12: 110,661,951 (GRCm39) probably null Het
Ifit1bl1 T A 19: 34,572,283 (GRCm39) Y58F probably benign Het
Igkv10-95 A G 6: 68,657,672 (GRCm39) T43A probably benign Het
Igkv6-17 C T 6: 70,348,814 (GRCm39) Q62* probably null Het
Jakmip2 A G 18: 43,704,244 (GRCm39) S367P possibly damaging Het
Lrrc40 A G 3: 157,764,333 (GRCm39) D416G probably damaging Het
Mdm2 A G 10: 117,528,626 (GRCm39) V177A probably benign Het
Mpp1 TGAGACGAACTCTCCGAG TGAG X: 74,169,375 (GRCm39) probably null Het
Myo1b C T 1: 51,813,466 (GRCm39) probably null Het
Notch2 A G 3: 98,048,859 (GRCm39) D1799G probably damaging Het
Obscn C T 11: 58,890,239 (GRCm39) G7431D unknown Het
Obscn A T 11: 58,933,034 (GRCm39) C4781S probably damaging Het
Or2a14 T A 6: 43,130,899 (GRCm39) I220N probably damaging Het
Or7a35 C A 10: 78,853,351 (GRCm39) S65Y probably damaging Het
Pard3 T A 8: 128,103,264 (GRCm39) V411D probably damaging Het
Pfkl T C 10: 77,835,671 (GRCm39) R246G probably damaging Het
Pgs1 T C 11: 117,894,186 (GRCm39) Y238H probably damaging Het
Pik3c2g A G 6: 139,665,724 (GRCm39) E15G possibly damaging Het
Pja2 A G 17: 64,616,610 (GRCm39) V95A probably benign Het
Ripor2 T C 13: 24,861,828 (GRCm39) I207T possibly damaging Het
Rps15 A G 10: 80,129,820 (GRCm39) Y115C probably damaging Het
Shkbp1 C A 7: 27,051,484 (GRCm39) E192* probably null Het
Slc23a4 T A 6: 34,933,978 (GRCm39) M42L probably benign Het
Snx25 T A 8: 46,509,028 (GRCm39) S373C probably benign Het
Sppl2a A T 2: 126,758,949 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,675 (GRCm39) T45I possibly damaging Het
Tpcn2 A G 7: 144,823,486 (GRCm39) S256P possibly damaging Het
Txk C T 5: 72,893,823 (GRCm39) probably benign Het
Ubr2 C G 17: 47,268,241 (GRCm39) W991S possibly damaging Het
Ufc1 A G 1: 171,122,248 (GRCm39) W28R probably damaging Het
Unc93b1 C A 19: 3,985,297 (GRCm39) A35E probably benign Het
Ush2a A G 1: 188,546,499 (GRCm39) N3425S probably benign Het
Vmn1r32 A G 6: 66,530,345 (GRCm39) Y144H probably benign Het
Vmn1r76 A G 7: 11,664,426 (GRCm39) F228L probably damaging Het
Zfc3h1 A G 10: 115,243,813 (GRCm39) N715D probably benign Het
Zfp933 T C 4: 147,910,325 (GRCm39) S424G 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
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
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'- GTCTCCAGTCTTCATTTAGAGCTAAGG -3'
(R):5'- ACGGAACTGCCCTTTACAG -3'

Sequencing Primer
(F):5'- AGGCACTTGACATGTAAATTACAG -3'
(R):5'- CCTTTACAGTATCCCAACATGTGAAG -3'
Posted On 2018-05-04