Incidental Mutation 'IGL01522:Ndc80'
ID 89422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndc80
Ensembl Gene ENSMUSG00000024056
Gene Name NDC80 kinetochore complex component
Synonyms 2610020P18Rik, Kntc2, HEC1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL01522
Quality Score
Status
Chromosome 17
Chromosomal Location 71496100-71526857 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71499325 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 578 (V578A)
Ref Sequence ENSEMBL: ENSMUSP00000024851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024851]
AlphaFold Q9D0F1
Predicted Effect probably benign
Transcript: ENSMUST00000024851
AA Change: V578A

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024851
Gene: ENSMUSG00000024056
AA Change: V578A

DomainStartEndE-ValueType
Pfam:Ndc80_HEC 51 204 3.6e-54 PFAM
coiled coil region 249 423 N/A INTRINSIC
coiled coil region 458 599 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Ndc80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01691:Ndc80 APN 17 71508639 missense possibly damaging 0.72
IGL02175:Ndc80 APN 17 71511419 missense probably benign 0.00
IGL02293:Ndc80 APN 17 71514278 missense probably damaging 1.00
IGL03086:Ndc80 APN 17 71520925 missense probably benign 0.01
R0730:Ndc80 UTSW 17 71496246 missense probably benign
R1749:Ndc80 UTSW 17 71501555 missense probably benign 0.11
R2061:Ndc80 UTSW 17 71514218 missense probably benign 0.17
R2099:Ndc80 UTSW 17 71504778 missense probably benign 0.00
R2911:Ndc80 UTSW 17 71500376 missense probably benign
R4598:Ndc80 UTSW 17 71521068 missense probably damaging 1.00
R4599:Ndc80 UTSW 17 71521068 missense probably damaging 1.00
R4678:Ndc80 UTSW 17 71520758 critical splice donor site probably null
R4775:Ndc80 UTSW 17 71514270 missense probably damaging 1.00
R5029:Ndc80 UTSW 17 71508765 missense probably benign 0.01
R5283:Ndc80 UTSW 17 71521135 missense probably benign 0.03
R5356:Ndc80 UTSW 17 71521108 missense possibly damaging 0.76
R5412:Ndc80 UTSW 17 71514231 missense probably damaging 1.00
R5542:Ndc80 UTSW 17 71500281 missense probably benign 0.21
R6031:Ndc80 UTSW 17 71511488 missense probably benign 0.00
R6031:Ndc80 UTSW 17 71511488 missense probably benign 0.00
R6051:Ndc80 UTSW 17 71517578 missense probably benign 0.14
R6680:Ndc80 UTSW 17 71517545 missense probably null 0.46
R7658:Ndc80 UTSW 17 71508663 missense probably damaging 0.96
R7716:Ndc80 UTSW 17 71523594 missense probably benign 0.42
R7923:Ndc80 UTSW 17 71496301 missense probably benign 0.27
R8966:Ndc80 UTSW 17 71508578 missense probably benign 0.00
R8995:Ndc80 UTSW 17 71508603 missense probably benign 0.00
R9245:Ndc80 UTSW 17 71500299 missense probably benign 0.00
Posted On 2013-12-03