Incidental Mutation 'R1519:Spc25'
ID 167245
Institutional Source Beutler Lab
Gene Symbol Spc25
Ensembl Gene ENSMUSG00000005233
Gene Name SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)
Synonyms 2600017H08Rik, Spbc25, 2610205L13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R1519 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 69193895-69206194 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69200087 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 71 (I71V)
Ref Sequence ENSEMBL: ENSMUSP00000120999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005365] [ENSMUST00000112320] [ENSMUST00000127243] [ENSMUST00000149045] [ENSMUST00000149643] [ENSMUST00000167875]
AlphaFold Q3UA16
Predicted Effect probably damaging
Transcript: ENSMUST00000005365
AA Change: I119V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233
AA Change: I119V

low complexity region 46 57 N/A INTRINSIC
Pfam:Spindle_Spc25 148 222 6.3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112320
AA Change: I119V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233
AA Change: I119V

low complexity region 46 57 N/A INTRINSIC
Pfam:Spindle_Spc25 150 221 1.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126638
Predicted Effect possibly damaging
Transcript: ENSMUST00000127243
AA Change: I104V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233
AA Change: I104V

low complexity region 1 12 N/A INTRINSIC
low complexity region 30 44 N/A INTRINSIC
coiled coil region 57 113 N/A INTRINSIC
Pfam:Spindle_Spc25 133 207 4.5e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149045
AA Change: I71V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120999
Gene: ENSMUSG00000005233
AA Change: I71V

Pfam:Spindle_Spc25 100 133 3.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149401
Predicted Effect probably damaging
Transcript: ENSMUST00000149643
AA Change: I119V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117415
Gene: ENSMUSG00000005233
AA Change: I119V

low complexity region 46 57 N/A INTRINSIC
PDB:3IZ0|E 99 167 3e-22 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000167875
AA Change: I71V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233
AA Change: I71V

Pfam:Spindle_Spc25 100 174 1.7e-27 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a component of the kinetochore-associated NDC80 protein complex, which is required for the mitotic spindle checkpoint and for microtubule-kinetochore attachment. During meiosis in mouse, the protein localizes to the germinal vesicle and then is associated with the chromosomes following germinal vesicle breakdown. Knockdown of this gene in oocytes results in precocious polar body extrusion, chromosome misalignment and aberrant spindle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,603,528 (GRCm38) P187R probably damaging Het
9230019H11Rik A G 10: 3,125,230 (GRCm38) noncoding transcript Het
9530077C05Rik T G 9: 22,430,375 (GRCm38) L114R probably benign Het
Abhd5 T C 9: 122,379,014 (GRCm38) probably null Het
Acadvl A G 11: 70,014,791 (GRCm38) probably null Het
Actn1 T C 12: 80,205,078 (GRCm38) E75G probably damaging Het
Adam4 A T 12: 81,420,877 (GRCm38) N323K possibly damaging Het
Anks6 G A 4: 47,027,152 (GRCm38) R689W probably damaging Het
Anxa2 T C 9: 69,485,241 (GRCm38) I124T probably damaging Het
Aph1c T C 9: 66,833,265 (GRCm38) T10A probably benign Het
Arhgap40 T A 2: 158,546,801 (GRCm38) W552R probably benign Het
Baz2b C T 2: 59,948,254 (GRCm38) R754H possibly damaging Het
Blmh A G 11: 76,966,781 (GRCm38) Y147C probably damaging Het
C1galt1 C T 6: 7,866,402 (GRCm38) L83F probably damaging Het
Cd163l1 G A 7: 140,228,156 (GRCm38) V747I probably benign Het
Cdh23 A T 10: 60,379,343 (GRCm38) Y1403N possibly damaging Het
Cic A T 7: 25,293,810 (GRCm38) probably null Het
Coro1b T A 19: 4,150,584 (GRCm38) V200D possibly damaging Het
Csl T A 10: 99,757,955 (GRCm38) E416V probably damaging Het
Cyp3a25 A G 5: 146,001,447 (GRCm38) probably null Het
Dennd2d T A 3: 106,492,559 (GRCm38) F266Y probably damaging Het
Dnah10 A G 5: 124,760,952 (GRCm38) E1072G probably damaging Het
Dnah6 T A 6: 73,049,048 (GRCm38) K3435N probably damaging Het
Dnah9 G A 11: 65,881,761 (GRCm38) A3715V probably damaging Het
Fam186a G A 15: 99,947,655 (GRCm38) S236L unknown Het
Fam198b A G 3: 79,941,464 (GRCm38) N506D possibly damaging Het
Frs3 A G 17: 47,702,978 (GRCm38) T199A probably benign Het
Fsd1 A G 17: 55,993,870 (GRCm38) N243S probably benign Het
Gabra5 A C 7: 57,408,893 (GRCm38) L369R probably benign Het
Gins4 A G 8: 23,234,776 (GRCm38) V54A probably benign Het
Gli1 T C 10: 127,334,269 (GRCm38) E339G possibly damaging Het
Gm12185 A G 11: 48,907,767 (GRCm38) V633A probably damaging Het
Gm8251 A G 1: 44,056,970 (GRCm38) V1656A probably benign Het
Gm8765 G A 13: 50,700,407 (GRCm38) probably null Het
Gpr83 T A 9: 14,868,197 (GRCm38) C182S probably null Het
Gspt1 A G 16: 11,220,855 (GRCm38) V627A probably damaging Het
Heatr1 T C 13: 12,412,159 (GRCm38) C722R probably benign Het
Jak1 C T 4: 101,162,922 (GRCm38) R680Q probably damaging Het
Kif2c A G 4: 117,169,940 (GRCm38) V287A probably damaging Het
Kmo A G 1: 175,656,802 (GRCm38) E366G probably damaging Het
Kmo C T 1: 175,651,618 (GRCm38) P240L possibly damaging Het
Lepr A T 4: 101,789,344 (GRCm38) N824I probably damaging Het
Lyrm7 T A 11: 54,848,599 (GRCm38) H75L possibly damaging Het
Map4k1 A T 7: 28,991,036 (GRCm38) Q351L probably benign Het
Mgam T C 6: 40,661,683 (GRCm38) I450T probably benign Het
Nbeal2 A G 9: 110,636,305 (GRCm38) L955P probably damaging Het
Nlrp9c T C 7: 26,378,101 (GRCm38) K752R possibly damaging Het
Nsmaf A T 4: 6,438,062 (GRCm38) I70K probably benign Het
Olfr201 C T 16: 59,268,944 (GRCm38) C241Y probably damaging Het
Olfr298 A G 7: 86,489,125 (GRCm38) M142T probably damaging Het
Otud7a A G 7: 63,758,643 (GRCm38) Y898C probably damaging Het
Pcdhb18 A C 18: 37,490,892 (GRCm38) D425A probably damaging Het
Prdm1 A T 10: 44,439,986 (GRCm38) L733* probably null Het
Prdm2 A T 4: 143,135,583 (GRCm38) I379N probably damaging Het
Ptprg A T 14: 12,220,596 (GRCm38) Y436F probably damaging Het
Riok3 A G 18: 12,137,306 (GRCm38) D167G probably damaging Het
Rnf215 G T 11: 4,135,451 (GRCm38) R60L probably damaging Het
Sdk1 A T 5: 141,999,950 (GRCm38) H779L probably benign Het
Serpine2 A G 1: 79,795,031 (GRCm38) F390L probably damaging Het
Sh3d21 T A 4: 126,151,726 (GRCm38) K387* probably null Het
Slc13a2 T C 11: 78,397,746 (GRCm38) Y568C possibly damaging Het
Slc27a5 T C 7: 12,988,459 (GRCm38) probably null Het
Slc32a1 T C 2: 158,614,577 (GRCm38) L384P probably damaging Het
Sorcs1 T C 19: 50,252,587 (GRCm38) N454D probably benign Het
Spag8 T C 4: 43,652,777 (GRCm38) Y228C possibly damaging Het
Tcte1 T A 17: 45,535,252 (GRCm38) F261I probably damaging Het
Thsd7a T A 6: 12,471,175 (GRCm38) K481N probably benign Het
Tll2 G T 19: 41,086,400 (GRCm38) N908K probably benign Het
Tmem236 T C 2: 14,192,280 (GRCm38) V93A probably benign Het
Top2b G A 14: 16,408,953 (GRCm38) probably null Het
Topaz1 G A 9: 122,767,011 (GRCm38) S949N probably benign Het
Triobp A G 15: 78,973,738 (GRCm38) T1180A probably benign Het
Trip11 A C 12: 101,886,160 (GRCm38) D548E probably benign Het
Trpv2 T A 11: 62,589,826 (GRCm38) probably null Het
Vmn1r12 T A 6: 57,159,555 (GRCm38) H212Q probably damaging Het
Vmn2r112 A G 17: 22,618,903 (GRCm38) T782A possibly damaging Het
Vmn2r7 A G 3: 64,716,455 (GRCm38) V239A possibly damaging Het
Vmn2r80 T A 10: 79,194,219 (GRCm38) N626K probably damaging Het
Vmn2r99 A G 17: 19,380,060 (GRCm38) S449G probably benign Het
Wfikkn2 T C 11: 94,238,107 (GRCm38) T403A probably benign Het
Xirp2 A G 2: 67,515,679 (GRCm38) I2755V probably benign Het
Yjefn3 A G 8: 69,889,079 (GRCm38) V153A probably benign Het
Zfp677 C A 17: 21,397,237 (GRCm38) H185Q possibly damaging Het
Zfp947 C T 17: 22,146,292 (GRCm38) V134I probably benign Het
Other mutations in Spc25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Spc25 APN 2 69,202,608 (GRCm38) nonsense probably null
IGL02273:Spc25 APN 2 69,204,929 (GRCm38) splice site probably benign
IGL03163:Spc25 APN 2 69,197,204 (GRCm38) missense probably damaging 1.00
R1604:Spc25 UTSW 2 69,205,154 (GRCm38) missense probably damaging 0.99
R2913:Spc25 UTSW 2 69,199,987 (GRCm38) missense probably benign 0.42
R3973:Spc25 UTSW 2 69,202,601 (GRCm38) missense probably damaging 1.00
R4094:Spc25 UTSW 2 69,202,631 (GRCm38) missense probably damaging 1.00
R4444:Spc25 UTSW 2 69,204,876 (GRCm38) missense probably benign 0.06
R5293:Spc25 UTSW 2 69,202,652 (GRCm38) missense possibly damaging 0.92
R6242:Spc25 UTSW 2 69,197,211 (GRCm38) missense probably damaging 1.00
R6433:Spc25 UTSW 2 69,206,102 (GRCm38) utr 5 prime probably benign
R6721:Spc25 UTSW 2 69,197,173 (GRCm38) missense possibly damaging 0.96
R7712:Spc25 UTSW 2 69,206,137 (GRCm38) missense unknown
R7866:Spc25 UTSW 2 69,206,062 (GRCm38) critical splice donor site probably null
R8054:Spc25 UTSW 2 69,204,913 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- GCAaacaacaataacaacaacaac -3'
Posted On 2014-04-13