Mutagenetix > Incidental Mutation

Incidental Mutation 'R2099:Ndc80'

233271

Institutional Source

Beutler Lab

Gene Symbol

Ndc80

Ensembl Gene

ENSMUSG00000024056

Gene Name

NDC80 kinetochore complex component

Synonyms

Kntc2, HEC1, 2610020P18Rik

MMRRC Submission

040103-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R2099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71803095-71833852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71811773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 484 (D484E)

Ref Sequence

ENSEMBL: ENSMUSP00000024851 (fasta)

Gene Model

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

AlphaFold

Q9D0F1

Predicted Effect

probably benign
Transcript: ENSMUST00000024851
AA Change: D484E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000024851
Gene: ENSMUSG00000024056
AA Change: D484E

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

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,817,820 (GRCm39)	R14Q	unknown	Het
Aga	C	A	8: 53,974,166 (GRCm39)	Y286*	probably null	Het
Anks1	T	C	17: 28,197,465 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,493,937 (GRCm39)	F159I	probably damaging	Het
Asxl1	A	T	2: 153,194,187 (GRCm39)	M46L	possibly damaging	Het
Atp23	G	T	10: 126,727,595 (GRCm39)		probably null	Het
Carmil1	T	A	13: 24,357,650 (GRCm39)	L66F	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cramp1	A	G	17: 25,192,059 (GRCm39)	V1027A	probably benign	Het
Cx3cr1	G	A	9: 119,881,339 (GRCm39)	A21V	probably benign	Het
Dcxr	A	G	11: 120,616,403 (GRCm39)	F221S	probably damaging	Het
Dio2	T	C	12: 90,696,597 (GRCm39)	*130W	probably null	Het
Dnah2	T	C	11: 69,384,063 (GRCm39)	D1051G	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,429 (GRCm39)	E958G	possibly damaging	Het
Eif3a	C	A	19: 60,752,551 (GRCm39)		probably benign	Het
Ephb2	T	C	4: 136,388,066 (GRCm39)	D678G	probably damaging	Het
Fpr3	G	T	17: 18,191,443 (GRCm39)	R238L	probably damaging	Het
Frem3	A	G	8: 81,342,488 (GRCm39)	S1594G	probably benign	Het
Gbp4	A	C	5: 105,268,947 (GRCm39)	L402W	probably damaging	Het
Gdpd5	T	A	7: 99,097,696 (GRCm39)	L164Q	probably damaging	Het
Il4i1	T	C	7: 44,487,616 (GRCm39)		probably null	Het
Kcp	G	T	6: 29,496,164 (GRCm39)	C723*	probably null	Het
Klhl18	A	G	9: 110,284,486 (GRCm39)	F2L	probably damaging	Het
Lepr	T	A	4: 101,630,185 (GRCm39)	D633E	probably damaging	Het
Lifr	A	G	15: 7,186,732 (GRCm39)	I79V	probably benign	Het
Mcrs1	A	G	15: 99,147,827 (GRCm39)	S27P	probably benign	Het
Mmp3	A	G	9: 7,453,672 (GRCm39)	D431G	probably benign	Het
Mtor	T	A	4: 148,634,649 (GRCm39)	Y2423*	probably null	Het
Ndufb8	T	A	19: 44,543,749 (GRCm39)		probably benign	Het
Nmur2	A	T	11: 55,931,589 (GRCm39)	S41T	probably benign	Het
Notch2	T	C	3: 98,022,637 (GRCm39)	C819R	possibly damaging	Het
Or10d3	A	G	9: 39,461,963 (GRCm39)	V68A	probably benign	Het
Or4f7	A	G	2: 111,644,177 (GRCm39)	I298T	probably benign	Het
Or6c35	A	T	10: 129,169,152 (GRCm39)	N134I	probably damaging	Het
Pheta1	C	T	5: 121,991,349 (GRCm39)	P237L	possibly damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Samd7	T	C	3: 30,810,709 (GRCm39)	V242A	probably benign	Het
Sde2	T	C	1: 180,693,713 (GRCm39)	L401P	probably damaging	Het
Slc20a1	A	G	2: 129,049,758 (GRCm39)	D340G	probably benign	Het
Slc2a5	T	A	4: 150,227,634 (GRCm39)	Y484*	probably null	Het
Spata31d1a	A	G	13: 59,853,885 (GRCm39)	L27P	probably damaging	Het
Sqstm1	T	C	11: 50,093,811 (GRCm39)	T269A	possibly damaging	Het
Syne2	T	C	12: 76,026,747 (GRCm39)	V3525A	probably benign	Het
Tctn1	G	A	5: 122,380,772 (GRCm39)	P512L	probably damaging	Het
Tlr1	A	G	5: 65,082,411 (GRCm39)	F722S	probably damaging	Het
Treh	A	G	9: 44,595,943 (GRCm39)	Y376C	probably damaging	Het
Trim47	T	C	11: 115,997,170 (GRCm39)	N529S	probably damaging	Het
Trrap	T	C	5: 144,719,049 (GRCm39)	V184A	possibly damaging	Het
Tyrp1	T	A	4: 80,753,616 (GRCm39)	N102K	possibly damaging	Het
Uspl1	T	A	5: 149,151,568 (GRCm39)	S724T	probably damaging	Het
Vmn2r2	C	A	3: 64,024,474 (GRCm39)	K702N	probably damaging	Het
Zfp267	C	T	3: 36,218,361 (GRCm39)	T128I	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAGTCAAGATTAGCACCAACTTTC -3'
(R):5'- GCACATACTCCCATCCTGTG -3'

Sequencing Primer
(F):5'- ATCTGAGTTTGAAGCCAGCC -3'
(R):5'- ACCAAAGGTATTTTCTCCTTATTGG -3'

Posted On

2014-09-18