Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01774:Nuf2'

154035

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nuf2

Ensembl Gene

ENSMUSG00000026683

Gene Name

NUF2, NDC80 kinetochore complex component

Synonyms

Nuf2R, Cdca1, 2410003C07Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

169497934-169531464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 169506072 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 345 (T345M)

Ref Sequence

ENSEMBL: ENSMUSP00000106999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028000] [ENSMUST00000111368] [ENSMUST00000192248]

Predicted Effect

probably benign
Transcript: ENSMUST00000028000
AA Change: T345M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028000
Gene: ENSMUSG00000026683
AA Change: T345M

Domain	Start	End	E-Value	Type
Pfam:Nuf2	1	149	9.7e-46	PFAM
coiled coil region	174	227	N/A	INTRINSIC
coiled coil region	290	343	N/A	INTRINSIC
coiled coil region	389	462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111368
AA Change: T345M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106999
Gene: ENSMUSG00000026683
AA Change: T345M

Domain	Start	End	E-Value	Type
Pfam:Nuf2	3	146	6.5e-37	PFAM
coiled coil region	174	227	N/A	INTRINSIC
coiled coil region	290	343	N/A	INTRINSIC
coiled coil region	389	462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192248

SMART Domains

Protein: ENSMUSP00000141427
Gene: ENSMUSG00000026683

Domain	Start	End	E-Value	Type
Pfam:Nuf2	1	149	2.3e-43	PFAM
SCOP:d1ab4__	154	210	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195342

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 protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,477,835	D708G	probably damaging	Het
Abca16	T	C	7: 120,421,801		probably benign	Het
Abcc5	T	C	16: 20,378,457	D674G	probably damaging	Het
Abr	A	G	11: 76,464,299		probably benign	Het
Arfgef3	A	G	10: 18,743,615	I4T	possibly damaging	Het
Btla	A	G	16: 45,250,548	N290S	possibly damaging	Het
Catip	C	A	1: 74,368,483	R325S	probably damaging	Het
Cep120	A	G	18: 53,706,830	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,115,307	I221V	probably benign	Het
Eloc	A	T	1: 16,645,789	D37E	probably benign	Het
Fabp12	A	C	3: 10,247,694	N89K	probably benign	Het
Ficd	G	T	5: 113,739,012	R416L	probably damaging	Het
Frmd3	T	C	4: 74,187,838	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,535,236		probably benign	Het
Gatc	G	A	5: 115,341,017	Q45*	probably null	Het
Gm5414	T	C	15: 101,626,975	D225G	probably benign	Het
Itpkc	G	T	7: 27,212,370	A592E	probably benign	Het
Kl	G	T	5: 150,988,483	V566L	probably benign	Het
Lpin1	T	A	12: 16,558,476	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,385,885	Y483C	probably damaging	Het
Neb	C	T	2: 52,222,970	W67*	probably null	Het
Nrarp	T	C	2: 25,181,286	V59A	possibly damaging	Het
Olfr659	T	C	7: 104,670,942	I80T	probably benign	Het
Pacs2	T	A	12: 113,056,842	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,277	K420R	probably benign	Het
Rag2	A	G	2: 101,630,047	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,550,542	Q88*	probably null	Het
Rictor	T	C	15: 6,769,777	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,925,613	Q276*	probably null	Het
Tas2r134	C	T	2: 51,628,148	T213I	probably benign	Het
Tecpr1	A	G	5: 144,211,540	I349T	probably damaging	Het
Tnxb	T	C	17: 34,688,839	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,375,050	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,583,627	I229L	probably benign	Het
Vnn1	T	C	10: 23,900,710	Y320H	probably benign	Het
Zfp990	T	C	4: 145,536,948	V172A	probably benign	Het

Other mutations in Nuf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00707:Nuf2	APN	1	169522435	unclassified	probably benign
IGL00980:Nuf2	APN	1	169510434	missense	probably damaging	1.00
IGL01131:Nuf2	APN	1	169522364	splice site	probably benign
IGL01310:Nuf2	APN	1	169498862	missense	probably benign	0.12
IGL01786:Nuf2	APN	1	169510483	missense	possibly damaging	0.88
IGL01866:Nuf2	APN	1	169498838	missense	possibly damaging	0.68
IGL02134:Nuf2	APN	1	169513500	missense	probably benign
IGL02955:Nuf2	APN	1	169507238	splice site	probably benign
R0350:Nuf2	UTSW	1	169513543	critical splice acceptor site	probably null
R0390:Nuf2	UTSW	1	169525297	unclassified	probably benign
R0479:Nuf2	UTSW	1	169498934	splice site	probably benign
R0578:Nuf2	UTSW	1	169510549	splice site	probably benign
R0765:Nuf2	UTSW	1	169522936	unclassified	probably benign
R1351:Nuf2	UTSW	1	169510549	splice site	probably benign
R1564:Nuf2	UTSW	1	169498793	missense	unknown
R3747:Nuf2	UTSW	1	169525376	missense	probably damaging	1.00
R3748:Nuf2	UTSW	1	169525376	missense	probably damaging	1.00
R3749:Nuf2	UTSW	1	169525376	missense	probably damaging	1.00
R4601:Nuf2	UTSW	1	169506114	missense	probably damaging	1.00
R4815:Nuf2	UTSW	1	169510468	missense	probably damaging	1.00
R5473:Nuf2	UTSW	1	169507287	missense	probably benign	0.05
R5522:Nuf2	UTSW	1	169498884	missense	probably damaging	1.00
R5716:Nuf2	UTSW	1	169522389	missense	probably benign	0.23
R5742:Nuf2	UTSW	1	169516622	missense	probably damaging	1.00
R6583:Nuf2	UTSW	1	169504548	missense	probably benign
R6680:Nuf2	UTSW	1	169515009	splice site	probably null
R7068:Nuf2	UTSW	1	169522419	missense	probably damaging	1.00
R7099:Nuf2	UTSW	1	169506072	missense	probably benign
R7186:Nuf2	UTSW	1	169525385	missense	probably damaging	0.99
R7527:Nuf2	UTSW	1	169498853	missense	possibly damaging	0.55
R7578:Nuf2	UTSW	1	169504528	missense	probably benign	0.00
R7836:Nuf2	UTSW	1	169525329	missense	probably benign	0.00

Posted On

2014-02-04