Incidental Mutation 'R5593:Spice1'
ID 437661
Institutional Source Beutler Lab
Gene Symbol Spice1
Ensembl Gene ENSMUSG00000043065
Gene Name spindle and centriole associated protein 1
Synonyms Ccdc52, D16Ertd480e
MMRRC Submission 043145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5593 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 44167761-44208857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44191115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 323 (A323E)
Ref Sequence ENSEMBL: ENSMUSP00000058832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050897]
AlphaFold Q8C804
Predicted Effect possibly damaging
Transcript: ENSMUST00000050897
AA Change: A323E

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: A323E

DomainStartEndE-ValueType
Pfam:SPICE 33 436 1.4e-151 PFAM
low complexity region 627 642 N/A INTRINSIC
coiled coil region 729 757 N/A INTRINSIC
low complexity region 758 775 N/A INTRINSIC
low complexity region 804 824 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155661
Meta Mutation Damage Score 0.0745 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
Anpep T G 7: 79,491,794 (GRCm39) K69T probably benign Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
Copb2 A G 9: 98,469,091 (GRCm39) probably null Het
Cpa5 T C 6: 30,630,848 (GRCm39) I370T probably benign Het
Cpn2 T C 16: 30,078,898 (GRCm39) T268A probably benign Het
Ctbp2 C A 7: 132,600,598 (GRCm39) R99I possibly damaging Het
Cul1 G A 6: 47,462,020 (GRCm39) W196* probably null Het
Cul1 T C 6: 47,491,925 (GRCm39) F402L probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Dyrk1a C A 16: 94,460,442 (GRCm39) Q33K possibly damaging Het
Elapor2 T A 5: 9,316,350 (GRCm39) L27Q probably benign Het
Epg5 T A 18: 78,000,689 (GRCm39) S542T probably damaging Het
Eps8l3 A T 3: 107,798,504 (GRCm39) probably benign Het
Evc2 A G 5: 37,544,321 (GRCm39) H690R probably damaging Het
Fam227a G A 15: 79,524,259 (GRCm39) probably benign Het
Gadl1 G T 9: 115,835,718 (GRCm39) G382V probably damaging Het
Gbf1 A G 19: 46,260,963 (GRCm39) Q1176R possibly damaging Het
Gdf9 A T 11: 53,324,558 (GRCm39) H109L probably damaging Het
Gsdmd T A 15: 75,738,856 (GRCm39) V411D probably damaging Het
Hdc T C 2: 126,460,504 (GRCm39) probably benign Het
Ifrd2 A G 9: 107,467,374 (GRCm39) D82G probably damaging Het
Itpkb T C 1: 180,161,661 (GRCm39) S596P probably damaging Het
Kcnmb3 A G 3: 32,546,096 (GRCm39) V8A possibly damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mcm9 G A 10: 53,414,393 (GRCm39) T229I probably damaging Het
Medag T A 5: 149,350,415 (GRCm39) F21L probably benign Het
Mefv A T 16: 3,533,315 (GRCm39) C319S probably benign Het
Mettl23 T A 11: 116,734,593 (GRCm39) V54D probably damaging Het
Mul1 A G 4: 138,166,543 (GRCm39) D199G probably damaging Het
Ncor1 A T 11: 62,260,130 (GRCm39) I266N probably damaging Het
Nek10 A T 14: 14,980,544 (GRCm38) K967* probably null Het
Nrcam A G 12: 44,606,483 (GRCm39) T410A probably damaging Het
Or1p1 A G 11: 74,179,618 (GRCm39) I49V possibly damaging Het
Or2b11 T C 11: 59,461,874 (GRCm39) R231G possibly damaging Het
Or52d13 C T 7: 103,109,592 (GRCm39) silent Het
Or52e4 T C 7: 104,705,711 (GRCm39) I86T probably damaging Het
Pate2 A T 9: 35,581,778 (GRCm39) D24V possibly damaging Het
Plcb3 T C 19: 6,932,117 (GRCm39) I1124V possibly damaging Het
Ptprc A T 1: 138,045,458 (GRCm39) probably benign Het
Rab6a T C 7: 100,257,378 (GRCm39) probably benign Het
Rnf208 G T 2: 25,133,345 (GRCm39) W13L possibly damaging Het
Rps6kl1 G T 12: 85,193,675 (GRCm39) Q139K possibly damaging Het
Sdk1 T A 5: 141,941,879 (GRCm39) I509N probably damaging Het
Sephs1 A G 2: 4,898,098 (GRCm39) I170V probably benign Het
Slc17a8 C T 10: 89,442,702 (GRCm39) D44N probably benign Het
Slc23a1 T A 18: 35,755,349 (GRCm39) I489F probably damaging Het
Slc25a19 A T 11: 115,507,418 (GRCm39) Y235N probably damaging Het
Slc47a2 A G 11: 61,233,486 (GRCm39) V40A probably benign Het
Slurp2 C T 15: 74,614,917 (GRCm39) V75I probably benign Het
Smc1b A C 15: 85,005,842 (GRCm39) M354R probably benign Het
Sptbn2 T A 19: 4,798,975 (GRCm39) V2015E probably damaging Het
Sptlc2 A C 12: 87,415,857 (GRCm39) F57V probably benign Het
Srsf1 A G 11: 87,938,705 (GRCm39) N14S possibly damaging Het
Ssh2 T A 11: 77,312,192 (GRCm39) D228E probably damaging Het
Synj2 A G 17: 6,088,390 (GRCm39) *1480W probably null Het
Syt14 A T 1: 192,613,231 (GRCm39) M523K probably damaging Het
Tff3 A T 17: 31,348,516 (GRCm39) V12E probably benign Het
Tgm2 C A 2: 157,969,262 (GRCm39) C371F probably damaging Het
Tmem260 A C 14: 48,711,501 (GRCm39) I197L probably benign Het
Unc5a A G 13: 55,152,747 (GRCm39) D887G possibly damaging Het
Vstm4 G T 14: 32,641,247 (GRCm39) A277S probably benign Het
Wdtc1 A T 4: 133,021,702 (GRCm39) probably null Het
Zan A G 5: 137,466,600 (GRCm39) F419S possibly damaging Het
Zfp317 G A 9: 19,558,584 (GRCm39) R266Q probably damaging Het
Zfp931 T A 2: 177,709,595 (GRCm39) T264S possibly damaging Het
Zpld2 T C 4: 133,920,350 (GRCm39) K605R probably damaging Het
Other mutations in Spice1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Spice1 APN 16 44,186,993 (GRCm39) missense probably benign 0.20
IGL01688:Spice1 APN 16 44,205,073 (GRCm39) missense probably benign 0.04
IGL03259:Spice1 APN 16 44,176,530 (GRCm39) missense probably damaging 1.00
IGL03367:Spice1 APN 16 44,176,541 (GRCm39) missense probably damaging 0.99
R0230:Spice1 UTSW 16 44,185,939 (GRCm39) splice site probably benign
R0944:Spice1 UTSW 16 44,205,124 (GRCm39) missense probably benign
R1352:Spice1 UTSW 16 44,207,185 (GRCm39) missense probably damaging 1.00
R1888:Spice1 UTSW 16 44,185,989 (GRCm39) missense probably damaging 1.00
R1888:Spice1 UTSW 16 44,185,989 (GRCm39) missense probably damaging 1.00
R1894:Spice1 UTSW 16 44,185,989 (GRCm39) missense probably damaging 1.00
R1907:Spice1 UTSW 16 44,178,193 (GRCm39) nonsense probably null
R2404:Spice1 UTSW 16 44,186,989 (GRCm39) missense probably benign 0.29
R2444:Spice1 UTSW 16 44,186,931 (GRCm39) nonsense probably null
R3551:Spice1 UTSW 16 44,178,232 (GRCm39) missense probably damaging 0.96
R3848:Spice1 UTSW 16 44,199,254 (GRCm39) nonsense probably null
R3857:Spice1 UTSW 16 44,175,806 (GRCm39) missense probably damaging 1.00
R4490:Spice1 UTSW 16 44,202,476 (GRCm39) missense probably damaging 1.00
R5996:Spice1 UTSW 16 44,205,037 (GRCm39) missense probably benign 0.00
R6303:Spice1 UTSW 16 44,191,060 (GRCm39) missense probably benign 0.03
R6552:Spice1 UTSW 16 44,199,396 (GRCm39) missense possibly damaging 0.75
R7042:Spice1 UTSW 16 44,206,043 (GRCm39) missense probably benign 0.04
R7062:Spice1 UTSW 16 44,178,259 (GRCm39) missense probably damaging 1.00
R7065:Spice1 UTSW 16 44,175,898 (GRCm39) missense probably damaging 1.00
R7115:Spice1 UTSW 16 44,199,638 (GRCm39) missense probably benign 0.00
R7762:Spice1 UTSW 16 44,190,864 (GRCm39) splice site probably null
R8408:Spice1 UTSW 16 44,205,060 (GRCm39) missense probably damaging 0.99
R9182:Spice1 UTSW 16 44,206,065 (GRCm39) missense possibly damaging 0.76
R9477:Spice1 UTSW 16 44,197,183 (GRCm39) missense possibly damaging 0.88
R9671:Spice1 UTSW 16 44,199,671 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CCACACAGTGTGTCACAGAATG -3'
(R):5'- AGAGGATTCCCATAACTTGCACC -3'

Sequencing Primer
(F):5'- CACACAGTGTGTCACAGAATGTTATG -3'
(R):5'- AGGATTCCCATAACTTGCACCCTTAC -3'
Posted On 2016-10-26