Mutagenetix > Incidental Mutation

Incidental Mutation 'R4598:Ndc80'

345391

Institutional Source

Beutler Lab

Gene Symbol

Ndc80

Ensembl Gene

ENSMUSG00000024056

Gene Name

NDC80 kinetochore complex component

Synonyms

Kntc2, HEC1, 2610020P18Rik

MMRRC Submission

041814-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R4598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71803095-71833852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71828063 bp (GRCm39)

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,818,188 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Abcb7	A	C	X: 103,366,988 (GRCm39)	D135E	probably benign	Het
Ace	T	A	11: 105,872,585 (GRCm39)		probably null	Het
Acnat1	T	C	4: 49,450,781 (GRCm39)	D110G	probably benign	Het
Ak9	C	T	10: 41,259,907 (GRCm39)	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,678,766 (GRCm39)	S972P	probably damaging	Het
Bmf	C	A	2: 118,379,609 (GRCm39)	A56S	probably benign	Het
C6	T	C	15: 4,792,852 (GRCm39)	L319P	possibly damaging	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,395,088 (GRCm39)	T69A	probably benign	Het
Cep162	A	G	9: 87,085,848 (GRCm39)	Y1159H	possibly damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Clca3a2	A	T	3: 144,511,444 (GRCm39)	N41K	probably damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,327,227 (GRCm39)	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,617,671 (GRCm39)	I67L	probably benign	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Esp31	T	A	17: 38,952,012 (GRCm39)		probably null	Het
Esrp2	A	G	8: 106,859,343 (GRCm39)	M498T	probably damaging	Het
F5	T	C	1: 164,032,366 (GRCm39)	I1771T	probably benign	Het
Fancd2	C	A	6: 113,562,438 (GRCm39)	H1259Q	probably benign	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Kat2b	A	G	17: 53,977,826 (GRCm39)	Y791C	probably benign	Het
Kazn	A	G	4: 141,937,403 (GRCm39)	V108A	possibly damaging	Het
Kcnma1	T	C	14: 23,853,228 (GRCm39)	T109A	probably damaging	Het
Med13	T	C	11: 86,169,392 (GRCm39)	T1955A	probably damaging	Het
Megf10	G	A	18: 57,322,675 (GRCm39)		probably null	Het
Megf10	A	T	18: 57,420,884 (GRCm39)	S841C	probably damaging	Het
Mep1a	A	G	17: 43,802,469 (GRCm39)		probably null	Het
Mrap2	A	T	9: 87,064,842 (GRCm39)	E194D	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Nrip1	A	G	16: 76,089,968 (GRCm39)	F530L	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	C	7: 104,685,280 (GRCm39)	I292L	probably benign	Het
Or6c216	T	C	10: 129,678,864 (GRCm39)	T16A	possibly damaging	Het
Or9i16	A	T	19: 13,865,381 (GRCm39)	H64Q	probably damaging	Het
Oxtr	C	T	6: 112,466,713 (GRCm39)	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,201,829 (GRCm39)	K464N	probably benign	Het
Pja2	A	T	17: 64,620,025 (GRCm39)	M1K	probably null	Het
Pkhd1	A	T	1: 20,573,280 (GRCm39)	N1875K	probably damaging	Het
Pogz	T	C	3: 94,787,491 (GRCm39)	S1360P	possibly damaging	Het
Proc	A	T	18: 32,256,512 (GRCm39)	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,402,492 (GRCm39)	I132T	probably benign	Het
Rpgr	A	G	X: 10,062,255 (GRCm39)	S343P	probably benign	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,820,481 (GRCm39)	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,483,131 (GRCm39)	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sema7a	A	G	9: 57,860,834 (GRCm39)	D65G	probably benign	Het
Slc25a45	A	G	19: 5,934,464 (GRCm39)	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,733,579 (GRCm39)	Y103C	probably damaging	Het
Stat3	C	T	11: 100,794,500 (GRCm39)	D270N	probably damaging	Het
Taar8b	T	C	10: 23,967,736 (GRCm39)	S153G	probably benign	Het
Top1	A	G	2: 160,562,885 (GRCm39)	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,966,801 (GRCm39)	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Usp29	A	G	7: 6,965,479 (GRCm39)	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,804,029 (GRCm39)	L182*	probably null	Het
Zgrf1	T	C	3: 127,394,679 (GRCm39)	I1345T	probably benign	Het
Zscan25	G	T	5: 145,227,815 (GRCm39)	R493L	probably benign	Het

Other mutations in Ndc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02175:Ndc80	APN	17	71,818,414 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTCATACGACGGGCACAGAAAG -3'
(R):5'- ATGCCTGAAACAAACTCCTGTG -3'

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

Posted On

2015-09-25