Incidental Mutation 'IGL02175:Ndc80'
ID 283070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndc80
Ensembl Gene ENSMUSG00000024056
Gene Name NDC80 kinetochore complex component
Synonyms Kntc2, HEC1, 2610020P18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL02175
Quality Score
Status
Chromosome 17
Chromosomal Location 71803095-71833852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 71818414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 314 (M314R)
Ref Sequence ENSEMBL: ENSMUSP00000024851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024851]
AlphaFold Q9D0F1
Predicted Effect probably benign
Transcript: ENSMUST00000024851
AA Change: M314R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024851
Gene: ENSMUSG00000024056
AA Change: M314R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158480
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,261,642 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,901 (GRCm39) I1199V probably damaging Het
Atm T A 9: 53,391,965 (GRCm39) H1808L probably damaging Het
Cadps C T 14: 12,467,092 (GRCm38) V942M probably damaging Het
Capns1 T C 7: 29,889,957 (GRCm39) D116G probably benign Het
Ccdc110 T G 8: 46,393,660 (GRCm39) M124R probably benign Het
Cdh23 T C 10: 60,167,087 (GRCm39) N1855S possibly damaging Het
Dstyk T A 1: 132,377,129 (GRCm39) L245* probably null Het
Dync2h1 A G 9: 7,111,548 (GRCm39) Y289H possibly damaging Het
Efcab6 G A 15: 83,780,301 (GRCm39) A1044V probably damaging Het
Egr1 T C 18: 34,996,108 (GRCm39) S297P probably benign Het
Ercc6l2 T C 13: 64,017,004 (GRCm39) probably benign Het
Frem2 C T 3: 53,563,020 (GRCm39) A496T possibly damaging Het
Hook2 T A 8: 85,718,031 (GRCm39) W53R probably damaging Het
Med19 T A 2: 84,509,007 (GRCm39) probably null Het
Mgrn1 A G 16: 4,738,232 (GRCm39) N262S probably benign Het
Nbas T G 12: 13,616,260 (GRCm39) probably null Het
Nelfcd A T 2: 174,262,175 (GRCm39) T89S probably benign Het
Nlrp4a A T 7: 26,174,522 (GRCm39) E969D probably damaging Het
Ntrk3 A G 7: 77,896,976 (GRCm39) V687A probably damaging Het
Oc90 A C 15: 65,755,674 (GRCm39) S224R possibly damaging Het
Or4a69 T C 2: 89,312,626 (GRCm39) I284M possibly damaging Het
Plxnb1 C T 9: 108,929,914 (GRCm39) H257Y possibly damaging Het
Prpf3 A G 3: 95,741,419 (GRCm39) V579A probably damaging Het
Rarres1 T C 3: 67,403,089 (GRCm39) N104S probably benign Het
Serpina1d T C 12: 103,731,955 (GRCm39) probably null Het
Sik2 G A 9: 50,806,909 (GRCm39) Q834* probably null Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Snx13 T A 12: 35,182,061 (GRCm39) N703K possibly damaging Het
Spaca9 T C 2: 28,585,936 (GRCm39) I43V probably benign Het
Tor1aip2 T C 1: 155,940,752 (GRCm39) S353P probably damaging Het
Trmt1l T C 1: 151,324,235 (GRCm39) S361P probably benign Het
Trpm2 T C 10: 77,773,741 (GRCm39) H558R probably benign Het
Vmn1r75 T C 7: 11,614,774 (GRCm39) C127R probably damaging Het
Zfp879 A T 11: 50,728,743 (GRCm39) Y84N probably benign Het
Other mutations in Ndc80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Ndc80 APN 17 71,806,320 (GRCm39) missense probably benign 0.23
IGL01691:Ndc80 APN 17 71,815,634 (GRCm39) missense possibly damaging 0.72
IGL02293:Ndc80 APN 17 71,821,273 (GRCm39) missense probably damaging 1.00
IGL03086:Ndc80 APN 17 71,827,920 (GRCm39) missense probably benign 0.01
R0730:Ndc80 UTSW 17 71,803,241 (GRCm39) missense probably benign
R1749:Ndc80 UTSW 17 71,808,550 (GRCm39) missense probably benign 0.11
R2061:Ndc80 UTSW 17 71,821,213 (GRCm39) missense probably benign 0.17
R2099:Ndc80 UTSW 17 71,811,773 (GRCm39) missense probably benign 0.00
R2911:Ndc80 UTSW 17 71,807,371 (GRCm39) missense probably benign
R4598:Ndc80 UTSW 17 71,828,063 (GRCm39) missense probably damaging 1.00
R4599:Ndc80 UTSW 17 71,828,063 (GRCm39) missense probably damaging 1.00
R4678:Ndc80 UTSW 17 71,827,753 (GRCm39) critical splice donor site probably null
R4775:Ndc80 UTSW 17 71,821,265 (GRCm39) missense probably damaging 1.00
R5029:Ndc80 UTSW 17 71,815,760 (GRCm39) missense probably benign 0.01
R5283:Ndc80 UTSW 17 71,828,130 (GRCm39) missense probably benign 0.03
R5356:Ndc80 UTSW 17 71,828,103 (GRCm39) missense possibly damaging 0.76
R5412:Ndc80 UTSW 17 71,821,226 (GRCm39) missense probably damaging 1.00
R5542:Ndc80 UTSW 17 71,807,276 (GRCm39) missense probably benign 0.21
R6031:Ndc80 UTSW 17 71,818,483 (GRCm39) missense probably benign 0.00
R6031:Ndc80 UTSW 17 71,818,483 (GRCm39) missense probably benign 0.00
R6051:Ndc80 UTSW 17 71,824,573 (GRCm39) missense probably benign 0.14
R6680:Ndc80 UTSW 17 71,824,540 (GRCm39) missense probably null 0.46
R7658:Ndc80 UTSW 17 71,815,658 (GRCm39) missense probably damaging 0.96
R7716:Ndc80 UTSW 17 71,830,589 (GRCm39) missense probably benign 0.42
R7923:Ndc80 UTSW 17 71,803,296 (GRCm39) missense probably benign 0.27
R8966:Ndc80 UTSW 17 71,815,573 (GRCm39) missense probably benign 0.00
R8995:Ndc80 UTSW 17 71,815,598 (GRCm39) missense probably benign 0.00
R9245:Ndc80 UTSW 17 71,807,294 (GRCm39) missense probably benign 0.00
R9468:Ndc80 UTSW 17 71,806,306 (GRCm39) nonsense probably null
Posted On 2015-04-16