Incidental Mutation 'R5373:Cspp1'
ID 428839
Institutional Source Beutler Lab
Gene Symbol Cspp1
Ensembl Gene ENSMUSG00000056763
Gene Name centrosome and spindle pole associated protein 1
Synonyms 2310020J12Rik, 4930413O22Rik
MMRRC Submission 042949-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R5373 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 10108212-10206993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 10204351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 1038 (L1038R)
Ref Sequence ENSEMBL: ENSMUSP00000139775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071087] [ENSMUST00000088615] [ENSMUST00000186294] [ENSMUST00000187226]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071087
AA Change: L1093R

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: L1093R

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 probably benign
Transcript: ENSMUST00000088615
SMART Domains Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851

DomainStartEndE-ValueType
Pfam:DCB 28 213 5.2e-45 PFAM
low complexity region 221 233 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Pfam:Sec7_N 416 575 1.3e-52 PFAM
Blast:Sec7 588 637 6e-24 BLAST
low complexity region 661 681 N/A INTRINSIC
Sec7 692 879 1.15e-105 SMART
Blast:Sec7 897 933 6e-13 BLAST
Blast:Sec7 947 986 8e-18 BLAST
Pfam:DUF1981 1217 1300 3.6e-39 PFAM
low complexity region 1587 1602 N/A INTRINSIC
low complexity region 1777 1782 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148663
Predicted Effect probably damaging
Transcript: ENSMUST00000186294
AA Change: L1038R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: L1038R

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: ENSMUST00000187417
Predicted Effect probably benign
Transcript: ENSMUST00000187226
SMART Domains Protein: ENSMUSP00000140076
Gene: ENSMUSG00000056763

DomainStartEndE-ValueType
coiled coil region 1 37 N/A INTRINSIC
coiled coil region 98 135 N/A INTRINSIC
Meta Mutation Damage Score 0.1718 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (74/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Abcb5 G T 12: 118,850,912 (GRCm39) T887K probably damaging Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Arpp21 T G 9: 111,896,336 (GRCm39) M687L probably benign Het
Camkv T C 9: 107,824,088 (GRCm39) S221P probably benign Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Chsy1 C T 7: 65,759,824 (GRCm39) Q56* probably null Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,472,824 (GRCm39) I317T probably damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Eml2 A T 7: 18,913,188 (GRCm39) D62V possibly damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Evc2 C T 5: 37,535,554 (GRCm39) R410W probably damaging Het
Fam169b T C 7: 67,950,586 (GRCm39) Y13H probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Fezf2 A T 14: 12,344,803 (GRCm38) V128E possibly damaging Het
Ighv3-5 A G 12: 114,226,573 (GRCm39) S18P probably damaging Het
Kcnq5 T A 1: 22,031,795 (GRCm39) H4L unknown Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Lig1 AG A 7: 13,039,849 (GRCm39) probably null Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Mtfr2 G T 10: 20,228,598 (GRCm39) C48F probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptpn14 T C 1: 189,583,160 (GRCm39) M669T probably benign Het
Ptprf G T 4: 118,083,238 (GRCm39) T923K possibly damaging Het
Ptprg A G 14: 12,213,665 (GRCm38) N1011S probably benign Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Slc26a7 A T 4: 14,546,447 (GRCm39) I294N probably damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Spata6 T A 4: 111,680,031 (GRCm39) probably null Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Susd5 G A 9: 113,911,653 (GRCm39) G188R probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Tnrc18 G A 5: 142,725,911 (GRCm39) R1793C unknown Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Vmn1r85 A T 7: 12,818,255 (GRCm39) Y296* probably null Het
Vmn2r71 C T 7: 85,267,750 (GRCm39) T68I possibly damaging Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp85 T C 13: 67,897,577 (GRCm39) Y165C probably damaging Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly damaging 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
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'- AGTGCTACCTCTAAGCCCTG -3'
(R):5'- AGAATTAATCCCAAGCCCTGG -3'

Sequencing Primer
(F):5'- TGCTACCTCTAAGCCCTGACAAAG -3'
(R):5'- GCCCTGGATTTCCAAGCTAG -3'
Posted On 2016-09-06