Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Ndc80'

345474

Institutional Source

Beutler Lab

Gene Symbol

Ndc80

Ensembl Gene

ENSMUSG00000024056

Gene Name

NDC80 kinetochore complex component

Synonyms

2610020P18Rik, Kntc2, HEC1

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71496100-71526857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71521068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 88 (D88G)

Ref Sequence

ENSEMBL: ENSMUSP00000024851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024851]

AlphaFold

Q9D0F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000024851
AA Change: D88G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024851
Gene: ENSMUSG00000024056
AA Change: D88G

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	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
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
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
R9468:Ndc80	UTSW	17	71499311	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTCTTTAGTGGATGGAGCTTGC -3'
(R):5'- AGAGCACGTTTTGTTTCCACC -3'

Sequencing Primer
(F):5'- GCTTGCAGAGACTTCATGGATAC -3'
(R):5'- CTCGTTCTATGCCTGAAACAAACTC -3'

Posted On

2015-09-25