Incidental Mutation 'R4094:Spc25'
ID 317774
Institutional Source Beutler Lab
Gene Symbol Spc25
Ensembl Gene ENSMUSG00000005233
Gene Name SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)
Synonyms 2600017H08Rik, 2610205L13Rik, Spbc25
MMRRC Submission 041628-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R4094 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 69024239-69036538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69032975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 50 (S50L)
Ref Sequence ENSEMBL: ENSMUSP00000128039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005365] [ENSMUST00000112320] [ENSMUST00000127243] [ENSMUST00000149045] [ENSMUST00000149643] [ENSMUST00000167875]
AlphaFold Q3UA16
Predicted Effect probably benign
Transcript: ENSMUST00000005365
AA Change: S98L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233
AA Change: S98L

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
Pfam:Spindle_Spc25 148 222 6.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112320
AA Change: S98L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233
AA Change: S98L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000127243
AA Change: S83L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233
AA Change: S83L

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000149045
AA Change: S50L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120999
Gene: ENSMUSG00000005233
AA Change: S50L

DomainStartEndE-ValueType
Pfam:Spindle_Spc25 100 133 3.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149401
Predicted Effect probably benign
Transcript: ENSMUST00000149643
AA Change: S98L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117415
Gene: ENSMUSG00000005233
AA Change: S98L

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
PDB:3IZ0|E 99 167 3e-22 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000167875
AA Change: S50L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233
AA Change: S50L

DomainStartEndE-ValueType
Pfam:Spindle_Spc25 100 174 1.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150505
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,071,192 (GRCm39) C1500R probably damaging Het
Amz1 A T 5: 140,737,921 (GRCm39) M93L probably damaging Het
Asb18 A T 1: 89,942,147 (GRCm39) N51K probably damaging Het
Bcl11b G T 12: 107,883,094 (GRCm39) P335Q probably damaging Het
Bsn A C 9: 107,991,069 (GRCm39) V1561G probably damaging Het
Cadm2 A T 16: 66,679,685 (GRCm39) N49K probably damaging Het
Cct8 T G 16: 87,284,516 (GRCm39) I283L possibly damaging Het
Cdc25b A G 2: 131,031,037 (GRCm39) M121V probably benign Het
Cpne4 A G 9: 104,563,734 (GRCm39) D37G probably damaging Het
Cym A G 3: 107,121,582 (GRCm39) S237P probably benign Het
Dhx35 T A 2: 158,684,276 (GRCm39) I517N probably damaging Het
Ehf T C 2: 103,121,095 (GRCm39) probably benign Het
Erp29 A G 5: 121,590,345 (GRCm39) probably benign Het
Fgd6 C A 10: 93,879,296 (GRCm39) P50Q probably damaging Het
Fhip1b T C 7: 105,037,425 (GRCm39) D386G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Frmd4a A G 2: 4,615,843 (GRCm39) Y1031C probably damaging Het
Gna13 T A 11: 109,287,242 (GRCm39) I355N probably damaging Het
Hgs T A 11: 120,359,859 (GRCm39) L21* probably null Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Itga2 T C 13: 115,007,161 (GRCm39) D389G probably benign Het
Kdm1b T C 13: 47,216,496 (GRCm39) C289R probably damaging Het
Kdm4c T A 4: 74,229,915 (GRCm39) D237E probably benign Het
Lilrb4b A T 10: 51,357,506 (GRCm39) E114V probably damaging Het
Loxl1 G A 9: 58,219,739 (GRCm39) T144I probably damaging Het
Macf1 C T 4: 123,353,062 (GRCm39) R1784Q probably benign Het
Maml2 G A 9: 13,531,449 (GRCm39) S221N probably benign Het
Map3k1 A G 13: 111,892,696 (GRCm39) M853T possibly damaging Het
Micu3 T G 8: 40,788,929 (GRCm39) S147A probably null Het
Nccrp1 T C 7: 28,243,651 (GRCm39) Y261C possibly damaging Het
Or51aa5 T A 7: 103,167,244 (GRCm39) I116F possibly damaging Het
Or5m5 A G 2: 85,814,562 (GRCm39) Y126C probably damaging Het
Or8k18 T C 2: 86,085,674 (GRCm39) D121G probably damaging Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Pclo C A 5: 14,905,659 (GRCm39) T4963N unknown Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Plcg1 A G 2: 160,589,761 (GRCm39) E95G probably damaging Het
Ppargc1a T C 5: 51,647,406 (GRCm39) N276S possibly damaging Het
Prr12 A G 7: 44,697,371 (GRCm39) L848P unknown Het
Ptcd2 A G 13: 99,468,957 (GRCm39) I202T probably damaging Het
Rab27a A C 9: 72,982,826 (GRCm39) I44L probably damaging Het
Rbfox2 A T 15: 77,016,925 (GRCm39) S82T probably damaging Het
Rsbn1 T A 3: 103,835,974 (GRCm39) F337L probably damaging Het
Samd8 T C 14: 21,843,113 (GRCm39) I414T probably damaging Het
Sema3e A G 5: 14,283,704 (GRCm39) I478V probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc2a3 A T 6: 122,712,527 (GRCm39) I239N probably benign Het
St8sia4 A T 1: 95,555,411 (GRCm39) S206R possibly damaging Het
Syngr3 G A 17: 24,908,817 (GRCm39) probably benign Het
Tigd4 A G 3: 84,501,947 (GRCm39) D288G probably damaging Het
Trim34b A G 7: 103,983,795 (GRCm39) M251V probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Ttn T C 2: 76,730,860 (GRCm39) probably benign Het
Vmp1 A G 11: 86,534,406 (GRCm39) I167T probably benign Het
Zfp64 T C 2: 168,767,855 (GRCm39) T586A probably benign Het
Zfp943 T A 17: 22,211,963 (GRCm39) C350S probably damaging Het
Zscan4f A T 7: 11,135,185 (GRCm39) N197I probably damaging Het
Other mutations in Spc25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01757:Spc25 APN 2 69,032,952 (GRCm39) nonsense probably null
IGL02273:Spc25 APN 2 69,035,273 (GRCm39) splice site probably benign
IGL03163:Spc25 APN 2 69,027,548 (GRCm39) missense probably damaging 1.00
R1519:Spc25 UTSW 2 69,030,431 (GRCm39) missense probably damaging 1.00
R1604:Spc25 UTSW 2 69,035,498 (GRCm39) missense probably damaging 0.99
R2913:Spc25 UTSW 2 69,030,331 (GRCm39) missense probably benign 0.42
R3973:Spc25 UTSW 2 69,032,945 (GRCm39) missense probably damaging 1.00
R4444:Spc25 UTSW 2 69,035,220 (GRCm39) missense probably benign 0.06
R5293:Spc25 UTSW 2 69,032,996 (GRCm39) missense possibly damaging 0.92
R6242:Spc25 UTSW 2 69,027,555 (GRCm39) missense probably damaging 1.00
R6433:Spc25 UTSW 2 69,036,446 (GRCm39) utr 5 prime probably benign
R6721:Spc25 UTSW 2 69,027,517 (GRCm39) missense possibly damaging 0.96
R7712:Spc25 UTSW 2 69,036,481 (GRCm39) missense unknown
R7866:Spc25 UTSW 2 69,036,406 (GRCm39) critical splice donor site probably null
R8054:Spc25 UTSW 2 69,035,257 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGCTGGTCTGTCTATGCC -3'
(R):5'- ATCCTGGGTTTACATAGGTTCTGTC -3'

Sequencing Primer
(F):5'- GTCTATGCCCTTAAGTGTAGTCTAC -3'
(R):5'- TTCATTAATCTTCAGGAAGTTGGC -3'
Posted On 2015-05-15