Incidental Mutation 'IGL01757:Spc25'
ID 153203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spc25
Ensembl Gene ENSMUSG00000005233
Gene Name SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)
Synonyms 2600017H08Rik, 2610205L13Rik, Spbc25
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL01757
Quality Score
Status
Chromosome 2
Chromosomal Location 69024239-69036538 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 69032952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 58 (Q58*)
Ref Sequence ENSEMBL: ENSMUSP00000128039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005365] [ENSMUST00000112320] [ENSMUST00000127243] [ENSMUST00000149045] [ENSMUST00000167875] [ENSMUST00000149643]
AlphaFold Q3UA16
Predicted Effect probably null
Transcript: ENSMUST00000005365
AA Change: Q106*
SMART Domains Protein: ENSMUSP00000005365
Gene: ENSMUSG00000005233
AA Change: Q106*

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
Pfam:Spindle_Spc25 148 222 6.3e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112320
AA Change: Q106*
SMART Domains Protein: ENSMUSP00000107939
Gene: ENSMUSG00000005233
AA Change: Q106*

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 null
Transcript: ENSMUST00000127243
AA Change: Q91*
SMART Domains Protein: ENSMUSP00000120142
Gene: ENSMUSG00000005233
AA Change: Q91*

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 null
Transcript: ENSMUST00000149045
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000120999
Gene: ENSMUSG00000005233
AA Change: Q58*

DomainStartEndE-ValueType
Pfam:Spindle_Spc25 100 133 3.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149401
Predicted Effect probably null
Transcript: ENSMUST00000167875
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000128039
Gene: ENSMUSG00000005233
AA Change: Q58*

DomainStartEndE-ValueType
Pfam:Spindle_Spc25 100 174 1.7e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149643
AA Change: Q106*
SMART Domains Protein: ENSMUSP00000117415
Gene: ENSMUSG00000005233
AA Change: Q106*

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
PDB:3IZ0|E 99 167 3e-22 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150505
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,639,705 (GRCm39) probably benign Het
Adamts9 T C 6: 92,773,140 (GRCm39) Y1789C probably damaging Het
Cdcp1 A T 9: 123,009,066 (GRCm39) Y537* probably null Het
Chic2 T C 5: 75,167,428 (GRCm39) probably benign Het
Cpa5 G A 6: 30,625,926 (GRCm39) probably benign Het
Csgalnact2 T C 6: 118,106,307 (GRCm39) R4G probably damaging Het
Dnah10 T A 5: 124,845,991 (GRCm39) V1510D probably benign Het
Dnm2 T A 9: 21,376,915 (GRCm39) F91L probably damaging Het
Eif2b1 T C 5: 124,711,203 (GRCm39) K189E probably benign Het
Fgf17 A T 14: 70,874,420 (GRCm39) L123Q probably damaging Het
Ifna15 T C 4: 88,476,322 (GRCm39) K54R possibly damaging Het
Isg15 A G 4: 156,284,301 (GRCm39) C76R probably damaging Het
Ldb2 A T 5: 44,699,209 (GRCm39) probably benign Het
Lig4 A G 8: 10,021,185 (GRCm39) I865T probably benign Het
Lrrc46 T C 11: 96,926,701 (GRCm39) Y154C probably damaging Het
Lrrc8a G A 2: 30,145,537 (GRCm39) R117H possibly damaging Het
Mrpl2 A G 17: 46,959,183 (GRCm39) I96V probably damaging Het
Mtif2 G A 11: 29,491,337 (GRCm39) probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Ptpn23 G A 9: 110,220,704 (GRCm39) R269W probably damaging Het
Senp2 T C 16: 21,828,414 (GRCm39) V8A probably benign Het
Slf1 T C 13: 77,232,559 (GRCm39) D515G probably benign Het
Sult2a5 T C 7: 13,399,079 (GRCm39) S229P probably damaging Het
Tfap2d A G 1: 19,174,804 (GRCm39) T86A probably benign Het
Trp53bp1 A G 2: 121,041,785 (GRCm39) V1257A probably damaging Het
Wdr6 A G 9: 108,453,427 (GRCm39) V152A possibly damaging Het
Zdhhc7 A G 8: 120,814,662 (GRCm39) V49A probably benign Het
Zfp648 T C 1: 154,080,671 (GRCm39) S277P probably damaging Het
Other mutations in Spc25
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-02-04