Mutagenetix > Incidental Mutation

Incidental Mutation 'R4815:Nuf2'

369692

Institutional Source

Beutler Lab

Gene Symbol

Nuf2

Ensembl Gene

ENSMUSG00000026683

Gene Name

NUF2, NDC80 kinetochore complex component

Synonyms

2410003C07Rik, Nuf2R, Cdca1

MMRRC Submission

042433-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R4815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169325503-169359033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 169338037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 247 (S247P)

Ref Sequence

ENSEMBL: ENSMUSP00000141427 (fasta)

Gene Model

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

AlphaFold

Q99P69

Predicted Effect

probably damaging
Transcript: ENSMUST00000028000
AA Change: S247P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028000
Gene: ENSMUSG00000026683
AA Change: S247P

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: S247P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106999
Gene: ENSMUSG00000026683
AA Change: S247P

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 damaging
Transcript: ENSMUST00000192248
AA Change: S247P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141427
Gene: ENSMUSG00000026683
AA Change: S247P

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

Predicted Effect

unknown
Transcript: ENSMUST00000195342
AA Change: S81P

Meta Mutation Damage Score

0.1385

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

96% (76/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	T	18: 65,483,026 (GRCm39)	N327K	probably damaging	Het
Ank2	T	C	3: 126,730,410 (GRCm39)	T675A	probably benign	Het
Arap3	T	C	18: 38,106,296 (GRCm39)	T1516A	probably benign	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
C7	A	G	15: 5,088,887 (GRCm39)	V18A	probably benign	Het
Caap1	A	G	4: 94,389,497 (GRCm39)	V279A	probably benign	Het
Cacnb2	A	G	2: 14,879,591 (GRCm39)	D21G	probably damaging	Het
Ccdc171	T	C	4: 83,713,458 (GRCm39)	S1166P	probably damaging	Het
Chgb	A	T	2: 132,635,219 (GRCm39)	H387L	probably benign	Het
Chp2	G	A	7: 121,820,123 (GRCm39)	R91Q	probably damaging	Het
Chuk	C	A	19: 44,065,686 (GRCm39)	G703*	probably null	Het
Clmn	T	C	12: 104,751,825 (GRCm39)	D210G	probably damaging	Het
Cyp4f18	A	G	8: 72,749,839 (GRCm39)	V270A	possibly damaging	Het
Dgcr2	A	G	16: 17,676,483 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,028,256 (GRCm39)	V411D	unknown	Het
Dkk2	C	T	3: 131,879,546 (GRCm39)	A75V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dnase2a	T	C	8: 85,636,506 (GRCm39)	V187A	probably benign	Het
Dusp19	A	G	2: 80,461,289 (GRCm39)	M193V	probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,477 (GRCm39)	Q908L	possibly damaging	Het
Hsp90aa1	T	C	12: 110,661,660 (GRCm39)	M119V	possibly damaging	Het
Ice2	C	T	9: 69,314,400 (GRCm39)	R50C	probably damaging	Het
Ifi208	A	T	1: 173,510,403 (GRCm39)	E186V	probably damaging	Het
Ift122	A	G	6: 115,858,517 (GRCm39)	K166E	possibly damaging	Het
Jcad	T	A	18: 4,675,223 (GRCm39)	L995Q	possibly damaging	Het
Kcnc4	A	T	3: 107,365,582 (GRCm39)	C209S	probably benign	Het
Kmt2a	G	A	9: 44,732,553 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 102,980,739 (GRCm39)	L1465F	probably benign	Het
Map3k7	C	A	4: 31,988,592 (GRCm39)	T247N	probably damaging	Het
Mctp2	T	G	7: 71,909,097 (GRCm39)	Q72P	possibly damaging	Het
Miga1	T	C	3: 151,996,443 (GRCm39)	Y335C	probably benign	Het
Ms4a14	A	T	19: 11,291,641 (GRCm39)	N19K	probably benign	Het
Mylk	G	A	16: 34,715,295 (GRCm39)	R541Q	probably damaging	Het
Nav3	T	C	10: 109,659,413 (GRCm39)	T735A	probably benign	Het
Nlgn1	T	A	3: 25,490,194 (GRCm39)	H511L	probably damaging	Het
Nlrp4a	A	T	7: 26,150,233 (GRCm39)	E613D	probably benign	Het
Ocstamp	A	G	2: 165,240,102 (GRCm39)	V28A	probably benign	Het
Odf2	A	C	2: 29,792,252 (GRCm39)	E155D	possibly damaging	Het
Odr4	A	G	1: 150,250,597 (GRCm39)	C294R	probably damaging	Het
Or2ag13	G	A	7: 106,473,444 (GRCm39)	P3S	probably benign	Het
Or8s16	T	C	15: 98,210,561 (GRCm39)	N290S	probably damaging	Het
Otud7a	T	C	7: 63,379,658 (GRCm39)		probably null	Het
Pacsin2	A	T	15: 83,269,260 (GRCm39)	D11E	probably damaging	Het
Pcdhga5	G	A	18: 37,828,247 (GRCm39)	V232I	probably damaging	Het
Plcb3	A	G	19: 6,940,352 (GRCm39)	I439T	possibly damaging	Het
Rag1	A	G	2: 101,473,861 (GRCm39)	V427A	probably damaging	Het
Ranbp10	A	T	8: 106,552,757 (GRCm39)	C128*	probably null	Het
Rbm8a2	A	G	1: 175,806,024 (GRCm39)	V151A	probably damaging	Het
S100pbp	A	G	4: 129,044,726 (GRCm39)		probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Sgo2b	T	C	8: 64,384,448 (GRCm39)	I183V	probably benign	Het
Slc25a25	A	T	2: 32,310,422 (GRCm39)	D112E	probably damaging	Het
Slc30a5	C	T	13: 100,950,218 (GRCm39)	V103I	probably damaging	Het
Slc9a2	A	T	1: 40,758,009 (GRCm39)	I183F	probably benign	Het
Srrm4	T	A	5: 116,613,249 (GRCm39)	K141N	unknown	Het
Tbc1d20	T	C	2: 152,153,909 (GRCm39)		probably benign	Het
Tdpoz6	C	T	3: 93,599,593 (GRCm39)	V259M	probably benign	Het
Tep1	A	G	14: 51,078,759 (GRCm39)	L1498P	probably damaging	Het
Tgfbi	T	C	13: 56,779,933 (GRCm39)	M494T	probably benign	Het
Tox	A	G	4: 6,823,033 (GRCm39)	S95P	probably benign	Het
Tpr	G	A	1: 150,274,359 (GRCm39)	V163I	probably benign	Het
Trpm7	A	G	2: 126,700,412 (GRCm39)	S2P	probably damaging	Het
Ttn	A	G	2: 76,546,429 (GRCm39)	M32328T	probably damaging	Het
Vps39	A	T	2: 120,169,040 (GRCm39)	N289K	probably benign	Het
Xdh	C	T	17: 74,213,210 (GRCm39)	A847T	probably damaging	Het
Xndc1	G	A	7: 101,722,523 (GRCm39)	G63R	probably null	Het
Ythdc2	A	G	18: 45,018,307 (GRCm39)	S1330G	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zc3h7b	A	T	15: 81,677,864 (GRCm39)	K949N	probably damaging	Het
Zp3r	A	T	1: 130,526,649 (GRCm39)	Y185N	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
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
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'- TGCGTGATGAAGTCCCACAC -3'
(R):5'- TCACTCTGAGGAATGAAGCAGG -3'

Sequencing Primer
(F):5'- CAAACATGGCATTTCCTCTAGC -3'
(R):5'- GCTATGGTAGGCAAAAATCAGTTTAC -3'

Posted On

2016-02-04