Incidental Mutation 'R1604:Spc25'
ID 176305
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 039641-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1604 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 69024239-69036538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69035498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 4 (D4G)
Ref Sequence ENSEMBL: ENSMUSP00000117415 (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: D4G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233
AA Change: D4G

DomainStartEndE-ValueType
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: D4G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233
AA Change: D4G

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
SMART Domains Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233

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
SMART Domains Protein: ENSMUSP00000120999
Gene: ENSMUSG00000005233

DomainStartEndE-ValueType
Pfam:Spindle_Spc25 100 133 3.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149401
Predicted Effect probably damaging
Transcript: ENSMUST00000149643
AA Change: D4G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117415
Gene: ENSMUSG00000005233
AA Change: D4G

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
PDB:3IZ0|E 99 167 3e-22 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150505
Predicted Effect probably benign
Transcript: ENSMUST00000167875
SMART Domains Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233

DomainStartEndE-ValueType
Pfam:Spindle_Spc25 100 174 1.7e-27 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart2 A G 12: 55,612,405 (GRCm39) D110G probably damaging Het
Angptl2 T C 2: 33,133,785 (GRCm39) M369T possibly damaging Het
Anks3 C T 16: 4,766,117 (GRCm39) V151M probably damaging Het
Arl6ip6 T C 2: 53,082,508 (GRCm39) L125P probably damaging Het
Bmp1 T C 14: 70,745,444 (GRCm39) Q247R possibly damaging Het
Ccdc30 A G 4: 119,188,793 (GRCm39) I491T probably damaging Het
Cdhr1 T A 14: 36,817,050 (GRCm39) I104F probably benign Het
Cdk17 G T 10: 93,068,360 (GRCm39) M372I probably damaging Het
Cyp2c54 A G 19: 40,058,787 (GRCm39) V215A probably benign Het
D430041D05Rik T A 2: 104,035,487 (GRCm39) I1614F probably damaging Het
Ddx55 A G 5: 124,697,369 (GRCm39) N244D probably damaging Het
Dop1b G T 16: 93,559,458 (GRCm39) V617F probably benign Het
Erbb4 G T 1: 68,385,728 (GRCm39) A287E possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Gad2 T C 2: 22,513,852 (GRCm39) probably null Het
Gm17421 G A 12: 113,333,155 (GRCm39) noncoding transcript Het
Gm9894 T A 13: 67,913,008 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,700 (GRCm39) S193P probably damaging Het
Gpr20 C T 15: 73,567,853 (GRCm39) V179M probably damaging Het
Hdgf T A 3: 87,821,347 (GRCm39) probably null Het
Itgb8 A T 12: 119,166,265 (GRCm39) L89M probably damaging Het
Lnx2 T C 5: 146,966,135 (GRCm39) D328G probably benign Het
Lrguk A G 6: 34,049,305 (GRCm39) T341A possibly damaging Het
Map1b A G 13: 99,566,080 (GRCm39) S2214P unknown Het
Mms22l T C 4: 24,502,804 (GRCm39) F131L probably damaging Het
Msmo1 A G 8: 65,180,689 (GRCm39) I75T probably damaging Het
Or10d1c A T 9: 38,893,914 (GRCm39) M142K probably benign Het
Or2a56 G A 6: 42,932,650 (GRCm39) A73T possibly damaging Het
Or51k1 G T 7: 103,661,162 (GRCm39) A249E probably damaging Het
Or8c13 A G 9: 38,091,645 (GRCm39) V158A probably benign Het
Or8d2 T G 9: 38,760,000 (GRCm39) F197V probably benign Het
Pkhd1l1 C T 15: 44,330,763 (GRCm39) R113* probably null Het
Polr2m T C 9: 71,390,959 (GRCm39) D81G probably damaging Het
Ppp1r15b T A 1: 133,060,287 (GRCm39) M268K probably benign Het
Ptprcap T A 19: 4,206,073 (GRCm39) L52* probably null Het
Rasgrp2 C T 19: 6,457,087 (GRCm39) T277I possibly damaging Het
Rrbp1 T C 2: 143,831,310 (GRCm39) N286D probably damaging Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Scrib A C 15: 75,920,089 (GRCm39) S1557A probably damaging Het
Sergef C A 7: 46,092,783 (GRCm39) V409L probably benign Het
Shisal1 T C 15: 84,290,672 (GRCm39) M212V probably benign Het
Slc6a13 A G 6: 121,309,328 (GRCm39) M280V probably benign Het
Slc9a8 C T 2: 167,313,352 (GRCm39) P409S probably benign Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Specc1 C T 11: 61,933,883 (GRCm39) R88C probably damaging Het
Srsf11 C T 3: 157,724,948 (GRCm39) probably null Het
Stt3b T C 9: 115,079,995 (GRCm39) E639G probably damaging Het
Sult3a1 A C 10: 33,742,616 (GRCm39) E81A probably damaging Het
Taf1b G A 12: 24,606,623 (GRCm39) G481D probably benign Het
Tgm4 T C 9: 122,874,129 (GRCm39) V123A probably benign Het
Tie1 G T 4: 118,331,604 (GRCm39) H973N probably damaging Het
Tmem117 C T 15: 94,992,425 (GRCm39) R362W probably damaging Het
Txnip A T 3: 96,466,277 (GRCm39) Q107L probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Vcan A G 13: 89,837,780 (GRCm39) V1628A probably benign Het
Vmn2r115 T A 17: 23,564,245 (GRCm39) M139K probably benign Het
Wwp1 A G 4: 19,659,709 (GRCm39) V193A probably benign Het
Zcchc8 C T 5: 123,838,721 (GRCm39) A606T probably benign Het
Zfp131 G A 13: 120,230,316 (GRCm39) L371F probably damaging Het
Zfp518b T C 5: 38,830,949 (GRCm39) D352G probably damaging Het
Zfp784 A G 7: 5,039,453 (GRCm39) probably benign Het
Zfp940 A T 7: 29,545,500 (GRCm39) F136I probably benign 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
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
R4094:Spc25 UTSW 2 69,032,975 (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'- TAGGAGTTAAGGGCTGGCAGTACC -3'
(R):5'- TGATGCACATCCACCACAGTTAAGC -3'

Sequencing Primer
(F):5'- TGGCAGTACCTGAAAACGC -3'
(R):5'- actcaaataccttcctctgcc -3'
Posted On 2014-04-24