Incidental Mutation 'R8408:Spice1'
ID 652550
Institutional Source Beutler Lab
Gene Symbol Spice1
Ensembl Gene ENSMUSG00000043065
Gene Name spindle and centriole associated protein 1
Synonyms Ccdc52, D16Ertd480e
MMRRC Submission 067815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8408 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 44167761-44208857 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44205060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 789 (S789P)
Ref Sequence ENSEMBL: ENSMUSP00000058832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050897]
AlphaFold Q8C804
Predicted Effect probably damaging
Transcript: ENSMUST00000050897
AA Change: S789P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058832
Gene: ENSMUSG00000043065
AA Change: S789P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,236,356 (GRCm39) T1236A possibly damaging Het
9930111J21Rik1 A T 11: 48,838,829 (GRCm39) M586K probably damaging Het
Adamts4 T C 1: 171,080,314 (GRCm39) V289A possibly damaging Het
Ankrd44 A T 1: 54,762,257 (GRCm39) D522E probably benign Het
Asb14 A G 14: 26,637,067 (GRCm39) Y603C probably damaging Het
Bcl7b A G 5: 135,197,308 (GRCm39) probably benign Het
Cd5 T C 19: 10,700,469 (GRCm39) K345R possibly damaging Het
Celsr3 T C 9: 108,708,988 (GRCm39) F1278S probably damaging Het
Cndp1 T A 18: 84,650,049 (GRCm39) T215S possibly damaging Het
Crygb T G 1: 65,119,709 (GRCm39) R90S probably damaging Het
Dlg4 T A 11: 69,933,078 (GRCm39) F555I possibly damaging Het
Dnah3 C T 7: 119,551,728 (GRCm39) V2864M probably damaging Het
Dnttip2 A G 3: 122,070,351 (GRCm39) E522G probably damaging Het
Ercc4 G C 16: 12,948,001 (GRCm39) R406P probably benign Het
Foxp1 G A 6: 98,922,543 (GRCm39) P430S unknown Het
Galnt1 A G 18: 24,400,628 (GRCm39) T245A probably benign Het
Gnl2 T A 4: 124,938,082 (GRCm39) N287K probably damaging Het
Jcad C A 18: 4,649,402 (GRCm39) A91E possibly damaging Het
Kat6a G A 8: 23,352,275 (GRCm39) V20I probably damaging Het
Kcnb2 A G 1: 15,781,777 (GRCm39) N883S probably damaging Het
Lrch3 A T 16: 32,775,750 (GRCm39) R205S probably damaging Het
Lrr1 A G 12: 69,215,825 (GRCm39) T66A probably benign Het
Lrrc37a T A 11: 103,351,635 (GRCm39) I2569F unknown Het
Maip1 A T 1: 57,449,102 (GRCm39) Q161L probably damaging Het
Neb T C 2: 52,047,923 (GRCm39) E6699G probably benign Het
Nup205 A G 6: 35,202,182 (GRCm39) R1305G probably damaging Het
Or1e19 T A 11: 73,316,794 (GRCm39) N5I probably damaging Het
Or5ac21 A T 16: 59,124,418 (GRCm39) R301* probably null Het
Pate1 G A 9: 35,596,418 (GRCm39) R116W probably damaging Het
Pcsk5 T G 19: 17,410,809 (GRCm39) E1861A probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Per1 A T 11: 68,999,953 (GRCm39) D1215V possibly damaging Het
Phactr2 A G 10: 13,129,570 (GRCm39) S233P probably damaging Het
Pramel28 A G 4: 143,692,212 (GRCm39) V263A probably benign Het
Rgsl1 T A 1: 153,701,435 (GRCm39) N340Y possibly damaging Het
Rhot1 C T 11: 80,114,786 (GRCm39) P65S probably damaging Het
Scrn2 T C 11: 96,921,869 (GRCm39) L113P probably damaging Het
Sema6a T C 18: 47,381,958 (GRCm39) K863R probably benign Het
Slc15a1 A G 14: 121,715,528 (GRCm39) V337A possibly damaging Het
Slc25a1 T C 16: 17,743,720 (GRCm39) D298G probably benign Het
Slc25a22 G A 7: 141,011,737 (GRCm39) P168S probably benign Het
Slc29a4 A T 5: 142,691,109 (GRCm39) probably null Het
Slc35d1 T C 4: 103,047,007 (GRCm39) T264A Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Tectb T C 19: 55,178,099 (GRCm39) probably null Het
Ttn T A 2: 76,544,810 (GRCm39) Y32764F probably damaging Het
Utrn T G 10: 12,545,887 (GRCm39) S1684R possibly damaging Het
Zic1 G T 9: 91,246,847 (GRCm39) A75E probably damaging Het
Zswim4 A G 8: 84,939,014 (GRCm39) V956A possibly 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
R5593:Spice1 UTSW 16 44,191,115 (GRCm39) missense possibly damaging 0.50
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
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'- ACCATCTCTCAAGTGCTTCTGTAAG -3'
(R):5'- CCCTACTCGGTCAAGCTTAC -3'

Sequencing Primer
(F):5'- TTCTGTAAGCCATCATGACAAAAC -3'
(R):5'- ACCTTATTCTCTCTGTATGAGTGAG -3'
Posted On 2020-10-20