Incidental Mutation 'R8039:Cspp1'
ID 618363
Institutional Source Beutler Lab
Gene Symbol Cspp1
Ensembl Gene ENSMUSG00000056763
Gene Name centrosome and spindle pole associated protein 1
Synonyms 2310020J12Rik, 4930413O22Rik
MMRRC Submission 067476-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R8039 (G1)
Quality Score 213.009
Status Not validated
Chromosome 1
Chromosomal Location 10108212-10206993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10183238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 814 (D814E)
Ref Sequence ENSEMBL: ENSMUSP00000068804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071087] [ENSMUST00000186294] [ENSMUST00000187226]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071087
AA Change: D814E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000068804
Gene: ENSMUSG00000056763
AA Change: D814E

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: ENSMUST00000186294
AA Change: D759E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139775
Gene: ENSMUSG00000056763
AA Change: D759E

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 probably benign
Transcript: ENSMUST00000187226
AA Change: D46E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140076
Gene: ENSMUSG00000056763
AA Change: D46E

DomainStartEndE-ValueType
coiled coil region 1 37 N/A INTRINSIC
coiled coil region 98 135 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,547,699 (GRCm39) H225R probably damaging Het
Adgrb2 T A 4: 129,916,061 (GRCm39) L1451Q probably damaging Het
Afdn T C 17: 14,119,403 (GRCm39) L1713P probably damaging Het
Agr2 A T 12: 36,045,558 (GRCm39) I15F probably benign Het
Agrn T C 4: 156,253,468 (GRCm39) T1808A probably benign Het
Akap6 A G 12: 53,188,459 (GRCm39) I1958V probably benign Het
Ankrd60 C A 2: 173,414,284 (GRCm39) probably null Het
Anpep A G 7: 79,489,148 (GRCm39) probably null Het
Apoa4 A T 9: 46,153,591 (GRCm39) D64V possibly damaging Het
Arhgef26 C A 3: 62,247,351 (GRCm39) T145N probably benign Het
Art1 A T 7: 101,756,052 (GRCm39) Q81L probably benign Het
Astl A T 2: 127,185,903 (GRCm39) S71C probably damaging Het
Atp2a1 A G 7: 126,047,977 (GRCm39) I611T probably damaging Het
Bltp1 T A 3: 36,997,363 (GRCm39) V1140E probably benign Het
Cacna2d2 T A 9: 107,404,632 (GRCm39) V1139D possibly damaging Het
Castor1 G T 11: 4,171,639 (GRCm39) A288S probably damaging Het
Chst10 T A 1: 38,905,112 (GRCm39) K198* probably null Het
Ckmt2 G A 13: 92,011,431 (GRCm39) H60Y possibly damaging Het
Coq7 G C 7: 118,132,469 (GRCm39) S2R possibly damaging Het
Cyp2c54 CCTCTTTCATAGCTCT CCTCT 19: 40,062,176 (GRCm39) probably null Het
Daam2 C A 17: 49,771,566 (GRCm39) G860V probably damaging Het
Ecm2 A T 13: 49,668,326 (GRCm39) I10F probably benign Het
Epb41l1 A T 2: 156,348,332 (GRCm39) D312V probably damaging Het
Epsti1 G A 14: 78,168,741 (GRCm39) R126H probably damaging Het
Erc1 A T 6: 119,750,626 (GRCm39) Y367* probably null Het
Erh T A 12: 80,684,352 (GRCm39) R42W probably damaging Het
Fam124a C T 14: 62,843,325 (GRCm39) Q278* probably null Het
Fbxo3 T A 2: 103,885,286 (GRCm39) L385Q probably damaging Het
Fbxo31 T A 8: 122,285,794 (GRCm39) T219S probably damaging Het
Fstl5 T G 3: 76,555,725 (GRCm39) V534G possibly damaging Het
Gbp2b A T 3: 142,323,925 (GRCm39) I577F probably benign Het
Gbp8 A T 5: 105,198,783 (GRCm39) L44* probably null Het
Gck C T 11: 5,860,301 (GRCm39) A114T probably benign Het
Gtf2i A G 5: 134,284,688 (GRCm39) V537A possibly damaging Het
Iqcm C A 8: 76,489,733 (GRCm39) H400Q probably damaging Het
Iqcn T C 8: 71,163,555 (GRCm39) V916A probably benign Het
Itpr1 T C 6: 108,363,589 (GRCm39) L737P probably damaging Het
Jakmip1 A G 5: 37,258,116 (GRCm39) E254G probably damaging Het
Kif15 A T 9: 122,836,490 (GRCm39) R1095W possibly damaging Het
Klhdc8a G A 1: 132,230,846 (GRCm39) R237Q probably benign Het
Klhl38 T C 15: 58,186,258 (GRCm39) E157G probably benign Het
Klrk1 T A 6: 129,589,786 (GRCm39) N221I probably benign Het
Lhx8 A T 3: 154,012,576 (GRCm39) H345Q probably damaging Het
Lims1 T A 10: 58,245,494 (GRCm39) N174K probably benign Het
Madd T A 2: 90,997,406 (GRCm39) Q754L probably benign Het
Mau2 T C 8: 70,472,440 (GRCm39) D581G probably damaging Het
Miga1 A T 3: 151,982,393 (GRCm39) I561N probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mob3c T C 4: 115,688,884 (GRCm39) V139A probably benign Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nalf1 T C 8: 9,257,892 (GRCm39) T419A probably benign Het
Ncapd2 C T 6: 125,157,989 (GRCm39) V380I probably damaging Het
Nes G A 3: 87,884,315 (GRCm39) R858K probably benign Het
Nphp3 T C 9: 103,909,162 (GRCm39) S791P probably benign Het
Nup210 T C 6: 91,047,215 (GRCm39) T496A probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4c100 C T 2: 88,356,215 (GRCm39) T96I probably benign Het
Or6y1 T A 1: 174,277,162 (GRCm39) S324R unknown Het
Or8b50 T A 9: 38,518,685 (GRCm39) M308K probably benign Het
Ovgp1 T A 3: 105,883,339 (GRCm39) S105T probably benign Het
Pbld2 T A 10: 62,883,771 (GRCm39) C79S probably damaging Het
Pik3cd T A 4: 149,744,323 (GRCm39) M143L possibly damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Poln A G 5: 34,280,016 (GRCm39) V282A probably benign Het
Ppp1r11 T C 17: 37,262,338 (GRCm39) T21A probably damaging Het
Prpf8 T A 11: 75,393,368 (GRCm39) I1664N possibly damaging Het
Prr29 C T 11: 106,267,738 (GRCm39) A161V probably benign Het
Rasa3 T C 8: 13,638,931 (GRCm39) D292G probably damaging Het
Rnf25 T C 1: 74,633,123 (GRCm39) T411A probably damaging Het
Rraga C T 4: 86,494,217 (GRCm39) T21I probably damaging Het
Setdb2 T A 14: 59,639,824 (GRCm39) Y673F probably damaging Het
Sf3a1 C T 11: 4,117,787 (GRCm39) T183I probably damaging Het
Shank3 A T 15: 89,389,642 (GRCm39) H413L probably damaging Het
Slc30a5 A G 13: 100,950,189 (GRCm39) probably null Het
Slc6a18 T C 13: 73,813,745 (GRCm39) S523G probably benign Het
Spaca1 C T 4: 34,044,207 (GRCm39) V96I probably damaging Het
Sycp2 C T 2: 178,016,378 (GRCm39) A695T probably benign Het
Tnrc18 C A 5: 142,717,807 (GRCm39) G2216C unknown Het
Trak2 T C 1: 58,985,447 (GRCm39) N17S probably benign Het
Ttn T A 2: 76,708,776 (GRCm39) N8792I unknown Het
Ttyh1 T C 7: 4,125,540 (GRCm39) V64A probably benign Het
Usb1 T A 8: 96,060,041 (GRCm39) S50R probably damaging Het
Ush2a T A 1: 188,689,570 (GRCm39) I5044N probably damaging Het
Vmn1r84 A T 7: 12,095,935 (GRCm39) F253I possibly damaging Het
Vmn2r99 T C 17: 19,600,302 (GRCm39) I442T probably benign Het
Vsig1 C T X: 139,833,875 (GRCm39) H232Y 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
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
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'- AATGCATGCAAGACGTGTGTC -3'
(R):5'- ATTTGTCAGTCAGTCACTCTGG -3'

Sequencing Primer
(F):5'- CTTATTCGGTTAGCTGAAGAG -3'
(R):5'- TCAGTCACTCTGGCAAGCTG -3'
Posted On 2020-01-23