Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Ndc80'

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283070

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: 0.967) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

71496100-71526857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71511419 bp

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]

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Ndc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Ndc80	APN	17	71499325	missense	probably benign	0.23
IGL01691:Ndc80	APN	17	71508639	missense	possibly damaging	0.72
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

Posted On

2015-04-16