Mutagenetix > Incidental Mutation

Incidental Mutation 'R5522:Nuf2'

431589

Institutional Source

Beutler Lab

Gene Symbol

Nuf2

Ensembl Gene

ENSMUSG00000026683

Gene Name

NUF2, NDC80 kinetochore complex component

Synonyms

2410003C07Rik, Nuf2R, Cdca1

MMRRC Submission

043081-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R5522 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

169325503-169359033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 169326453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 433 (Y433H)

Ref Sequence

ENSEMBL: ENSMUSP00000106999 (fasta)

Gene Model

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

AlphaFold

Q99P69

Predicted Effect

probably damaging
Transcript: ENSMUST00000028000
AA Change: Y433H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028000
Gene: ENSMUSG00000026683
AA Change: Y433H

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 damaging
Transcript: ENSMUST00000111368
AA Change: Y433H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106999
Gene: ENSMUSG00000026683
AA Change: Y433H

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

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 93.9%
20x: 85.3%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	C	8: 84,649,704 (GRCm39)	Y121H	possibly damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,731,671 (GRCm39)		probably null	Het
Cd69	A	T	6: 129,248,379 (GRCm39)	S36T	probably damaging	Het
Ceacam5	A	T	7: 17,449,005 (GRCm39)	I124L	probably benign	Het
Cerkl	T	C	2: 79,223,328 (GRCm39)	H131R	probably benign	Het
Cfap57	A	T	4: 118,453,085 (GRCm39)	N539K	probably benign	Het
Cyp4x1	C	A	4: 114,979,174 (GRCm39)	W141L	probably damaging	Het
Dlgap1	T	C	17: 70,823,993 (GRCm39)		probably null	Het
Dnaaf9	G	A	2: 130,656,222 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,296,954 (GRCm39)	I5781T	possibly damaging	Het
Epha2	T	A	4: 141,035,867 (GRCm39)	V101E	probably damaging	Het
Exph5	T	C	9: 53,285,613 (GRCm39)	F898S	possibly damaging	Het
Fyco1	G	A	9: 123,623,836 (GRCm39)	R1398*	probably null	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Grb10	T	C	11: 11,886,746 (GRCm39)	I508V	probably benign	Het
Igf1r	C	A	7: 67,833,258 (GRCm39)	Q473K	probably damaging	Het
Ighv1-66	T	A	12: 115,556,755 (GRCm39)	D109V	probably damaging	Het
Ipmk	C	A	10: 71,199,304 (GRCm39)	T55K	probably benign	Het
Kdm2b	A	G	5: 123,087,225 (GRCm39)	Y192H	probably damaging	Het
Krt32	A	T	11: 99,977,497 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,620 (GRCm39)	L178Q	possibly damaging	Het
Mchr1	A	T	15: 81,122,211 (GRCm39)	K320N	possibly damaging	Het
Mdn1	T	C	4: 32,685,783 (GRCm39)	L858S	probably damaging	Het
Myo3a	T	A	2: 22,464,353 (GRCm39)	F198Y	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nfatc1	T	C	18: 80,696,744 (GRCm39)	T647A	probably benign	Het
Nup210l	T	C	3: 90,061,972 (GRCm39)	V717A	probably benign	Het
Or3a1b	A	G	11: 74,012,484 (GRCm39)	Y123C	probably damaging	Het
Or5h17	A	T	16: 58,820,268 (GRCm39)	L73F	probably benign	Het
Or6c35	A	T	10: 129,168,798 (GRCm39)	D16V	probably damaging	Het
Pbrm1	A	G	14: 30,811,520 (GRCm39)	Y1210C	probably damaging	Het
Pcdhb6	A	G	18: 37,467,402 (GRCm39)	I108V	probably benign	Het
Plac8	T	A	5: 100,710,584 (GRCm39)	T6S	probably benign	Het
Plbd1	A	T	6: 136,594,298 (GRCm39)	V317E	probably benign	Het
Rars1	A	T	11: 35,708,195 (GRCm39)	Y406*	probably null	Het
Scamp3	T	C	3: 89,084,929 (GRCm39)	F11L	possibly damaging	Het
Sctr	A	G	1: 119,964,146 (GRCm39)	N142S	probably benign	Het
Sh2d4a	T	C	8: 68,749,349 (GRCm39)	S128P	probably benign	Het
Snrnp70	C	T	7: 45,026,601 (GRCm39)		probably benign	Het
Taf3	T	C	2: 9,945,816 (GRCm39)	K596R	probably damaging	Het
Tango6	T	C	8: 107,422,230 (GRCm39)		probably null	Het
Taok3	A	G	5: 117,411,822 (GRCm39)	T414A	probably benign	Het
Tmem104	G	A	11: 115,079,149 (GRCm39)		probably null	Het
Tmem231	T	A	8: 112,645,042 (GRCm39)	S155C	possibly damaging	Het
Tssk3	G	A	4: 129,383,343 (GRCm39)	R110W	possibly damaging	Het
Ugt2b37	T	C	5: 87,388,759 (GRCm39)	T485A	probably benign	Het
Unc5b	T	C	10: 60,613,974 (GRCm39)	K292E	possibly damaging	Het
Upf3a	T	A	8: 13,845,497 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,229,918 (GRCm39)	V797E	probably damaging	Het
Vcan	T	C	13: 89,839,929 (GRCm39)	T1872A	possibly damaging	Het
Vmn1r195	A	G	13: 22,463,120 (GRCm39)	M197V	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Xab2	A	T	8: 3,661,718 (GRCm39)	D578E	probably benign	Het
Xpo7	A	T	14: 70,909,090 (GRCm39)	Y810*	probably null	Het
Zcchc2	A	G	1: 105,951,426 (GRCm39)	N587S	probably benign	Het
Zfp189	C	T	4: 49,529,739 (GRCm39)	R281*	probably null	Het
Zranb1	T	C	7: 132,585,678 (GRCm39)	*735R	probably null	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
R0765:Nuf2	UTSW	1	169,350,505 (GRCm39)	unclassified	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
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'- AGAACTAGTGGTACCCGTGTTAGTG -3'
(R):5'- TCAGCTGTAGTCGTTGGTCC -3'

Sequencing Primer
(F):5'- AGCTGATATTGCAGGTACTTCC -3'
(R):5'- TCCTGGGTAGAAAAGATCTAAGCTC -3'

Posted On

2016-10-05