Mutagenetix > Incidental Mutation

Incidental Mutation 'R0765:Nuf2'

72586

Institutional Source

Beutler Lab

Gene Symbol

Nuf2

Ensembl Gene

ENSMUSG00000026683

Gene Name

NUF2, NDC80 kinetochore complex component

Synonyms

2410003C07Rik, Nuf2R, Cdca1

MMRRC Submission

038945-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R0765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169325503-169359033 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 169350505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q99P69

Predicted Effect

probably benign
Transcript: ENSMUST00000028000

SMART Domains

Protein: ENSMUSP00000028000
Gene: ENSMUSG00000026683

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

SMART Domains

Protein: ENSMUSP00000106999
Gene: ENSMUSG00000026683

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

noncoding transcript
Transcript: ENSMUST00000194831

Predicted Effect

probably benign
Transcript: ENSMUST00000195342

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.7%

Validation Efficiency

100% (62/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,827 (GRCm39)	V425D	probably benign	Het
Ano9	T	G	7: 140,687,097 (GRCm39)	I381L	probably damaging	Het
Apob	C	T	12: 8,066,518 (GRCm39)	L4496F	probably benign	Het
Arhgef38	C	T	3: 132,822,344 (GRCm39)	E724K	probably damaging	Het
Atp8b4	T	A	2: 126,214,070 (GRCm39)		probably null	Het
Baiap2l1	G	T	5: 144,214,513 (GRCm39)	P394T	probably damaging	Het
Btbd8	T	A	5: 107,654,800 (GRCm39)	D354E	probably benign	Het
Cnbp	C	A	6: 87,822,155 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,375,811 (GRCm39)		probably benign	Het
Colq	T	G	14: 31,247,994 (GRCm39)	D408A	possibly damaging	Het
Cuzd1	A	T	7: 130,917,824 (GRCm39)	S259T	probably benign	Het
Cyp3a57	A	G	5: 145,327,220 (GRCm39)		probably benign	Het
Dbn1	C	A	13: 55,630,107 (GRCm39)	V112F	probably damaging	Het
Dcc	T	A	18: 71,496,061 (GRCm39)	D1028V	probably damaging	Het
Dnajb11	T	C	16: 22,681,318 (GRCm39)	V32A	probably damaging	Het
Dsg4	G	A	18: 20,587,703 (GRCm39)		probably benign	Het
Dyrk1b	C	T	7: 27,885,136 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,759,987 (GRCm39)	M208K	probably damaging	Het
Efhc1	A	G	1: 21,048,876 (GRCm39)	I430V	probably benign	Het
Elovl2	T	C	13: 41,340,942 (GRCm39)	Y181C	probably benign	Het
Fras1	A	G	5: 96,700,655 (GRCm39)	Q225R	probably benign	Het
Frmd3	G	A	4: 74,080,004 (GRCm39)	R332Q	probably damaging	Het
Glg1	A	G	8: 111,886,429 (GRCm39)		probably null	Het
Hmcn1	G	A	1: 150,684,538 (GRCm39)	T344M	probably damaging	Het
Il1rap	T	G	16: 26,529,382 (GRCm39)		probably null	Het
Klra1	A	T	6: 130,356,055 (GRCm39)		probably benign	Het
Larp7	C	A	3: 127,339,814 (GRCm39)	K289N	probably damaging	Het
Lgr6	C	A	1: 134,921,624 (GRCm39)	G240V	probably benign	Het
Lrp10	G	T	14: 54,705,547 (GRCm39)	D246Y	probably damaging	Het
Map3k20	G	A	2: 72,202,269 (GRCm39)	V167I	probably damaging	Het
Med23	T	C	10: 24,776,608 (GRCm39)	S347P	probably damaging	Het
Mybph	T	C	1: 134,125,234 (GRCm39)	V254A	possibly damaging	Het
Ndufv2	A	G	17: 66,408,073 (GRCm39)		probably benign	Het
Nup210l	T	C	3: 90,027,184 (GRCm39)	Y189H	probably damaging	Het
Or4c52	G	A	2: 89,846,014 (GRCm39)	V247I	probably benign	Het
Or51t4	C	T	7: 102,597,939 (GRCm39)	T79I	probably damaging	Het
Or5m13	T	C	2: 85,749,049 (GRCm39)	L260P	probably damaging	Het
Pdgfra	C	A	5: 75,348,648 (GRCm39)		probably benign	Het
Phlpp1	T	C	1: 106,320,013 (GRCm39)	L1336P	probably damaging	Het
Prpf38b	T	C	3: 108,818,734 (GRCm39)	T9A	possibly damaging	Het
Rnf213	G	A	11: 119,313,921 (GRCm39)		probably null	Het
Saal1	A	T	7: 46,349,071 (GRCm39)	V281E	possibly damaging	Het
Slc17a3	C	T	13: 24,030,879 (GRCm39)	Q186*	probably null	Het
Slc6a2	A	G	8: 93,715,659 (GRCm39)	T266A	probably damaging	Het
Snai2	T	C	16: 14,524,668 (GRCm39)	V58A	possibly damaging	Het
Srfbp1	T	C	18: 52,623,507 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,446,706 (GRCm39)	P365S	possibly damaging	Het
Tmem127	C	A	2: 127,099,069 (GRCm39)	T201K	probably damaging	Het
Trim17	T	G	11: 58,862,195 (GRCm39)	V409G	possibly damaging	Het
Trim43c	C	T	9: 88,723,969 (GRCm39)	T165I	probably benign	Het
Ush2a	C	A	1: 188,680,771 (GRCm39)	F4916L	possibly damaging	Het
Vmn1r89	A	G	7: 12,953,467 (GRCm39)	M68V	probably benign	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r105	T	C	17: 20,448,119 (GRCm39)	D235G	probably damaging	Het
Vmn2r-ps134	C	T	17: 23,665,015 (GRCm39)		noncoding transcript	Het
Zdbf2	G	A	1: 63,344,882 (GRCm39)	S1087N	possibly damaging	Het
Zfp534	G	A	4: 147,758,693 (GRCm39)	P659S	probably damaging	Het

Other mutations in Nuf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00707:Nuf2	APN	1	169,350,004 (GRCm39)	unclassified	probably benign
IGL00980:Nuf2	APN	1	169,338,003 (GRCm39)	missense	probably damaging	1.00
IGL01131:Nuf2	APN	1	169,349,933 (GRCm39)	splice site	probably benign
IGL01310:Nuf2	APN	1	169,326,431 (GRCm39)	missense	probably benign	0.12
IGL01774:Nuf2	APN	1	169,333,641 (GRCm39)	missense	probably benign
IGL01786:Nuf2	APN	1	169,338,052 (GRCm39)	missense	possibly damaging	0.88
IGL01866:Nuf2	APN	1	169,326,407 (GRCm39)	missense	possibly damaging	0.68
IGL02134:Nuf2	APN	1	169,341,069 (GRCm39)	missense	probably benign
IGL02955:Nuf2	APN	1	169,334,807 (GRCm39)	splice site	probably benign
R0350:Nuf2	UTSW	1	169,341,112 (GRCm39)	critical splice acceptor site	probably null
R0390:Nuf2	UTSW	1	169,352,866 (GRCm39)	unclassified	probably benign
R0479:Nuf2	UTSW	1	169,326,503 (GRCm39)	splice site	probably benign
R0578:Nuf2	UTSW	1	169,338,118 (GRCm39)	splice site	probably benign
R1351:Nuf2	UTSW	1	169,338,118 (GRCm39)	splice site	probably benign
R1564:Nuf2	UTSW	1	169,326,362 (GRCm39)	missense	unknown
R3747:Nuf2	UTSW	1	169,352,945 (GRCm39)	missense	probably damaging	1.00
R3748:Nuf2	UTSW	1	169,352,945 (GRCm39)	missense	probably damaging	1.00
R3749:Nuf2	UTSW	1	169,352,945 (GRCm39)	missense	probably damaging	1.00
R4601:Nuf2	UTSW	1	169,333,683 (GRCm39)	missense	probably damaging	1.00
R4815:Nuf2	UTSW	1	169,338,037 (GRCm39)	missense	probably damaging	1.00
R5473:Nuf2	UTSW	1	169,334,856 (GRCm39)	missense	probably benign	0.05
R5522:Nuf2	UTSW	1	169,326,453 (GRCm39)	missense	probably damaging	1.00
R5716:Nuf2	UTSW	1	169,349,958 (GRCm39)	missense	probably benign	0.23
R5742:Nuf2	UTSW	1	169,344,191 (GRCm39)	missense	probably damaging	1.00
R6583:Nuf2	UTSW	1	169,332,117 (GRCm39)	missense	probably benign
R6680:Nuf2	UTSW	1	169,342,578 (GRCm39)	splice site	probably null
R7068:Nuf2	UTSW	1	169,349,988 (GRCm39)	missense	probably damaging	1.00
R7099:Nuf2	UTSW	1	169,333,641 (GRCm39)	missense	probably benign
R7186:Nuf2	UTSW	1	169,352,954 (GRCm39)	missense	probably damaging	0.99
R7527:Nuf2	UTSW	1	169,326,422 (GRCm39)	missense	possibly damaging	0.55
R7578:Nuf2	UTSW	1	169,332,097 (GRCm39)	missense	probably benign	0.00
R7836:Nuf2	UTSW	1	169,352,898 (GRCm39)	missense	probably benign	0.00
R9396:Nuf2	UTSW	1	169,337,917 (GRCm39)	missense	probably benign	0.00
R9794:Nuf2	UTSW	1	169,334,954 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAGGCAGTCAGCTCCTACTCAG -3'
(R):5'- AGAACAACAAAGTTCAGCATTCGGC -3'

Sequencing Primer
(F):5'- GGTGATACTAAGACTCTTCAAGACC -3'
(R):5'- ATTAAGTGCTCATCTGGAGCC -3'

Posted On

2013-09-30