Incidental Mutation 'R0578:Nuf2'
ID 56287
Institutional Source Beutler Lab
Gene Symbol Nuf2
Ensembl Gene ENSMUSG00000026683
Gene Name NUF2, NDC80 kinetochore complex component
Synonyms 2410003C07Rik, Nuf2R, Cdca1
MMRRC Submission 038768-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R0578 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 169325503-169359033 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 169338118 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Nuf2 1 149 2.3e-43 PFAM
SCOP:d1ab4__ 154 210 9e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195342
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,943,556 (GRCm39) Y56C possibly damaging Het
Abca5 A T 11: 110,167,315 (GRCm39) C1500* probably null Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Adam18 T C 8: 25,131,863 (GRCm39) D416G possibly damaging Het
Afap1l2 T A 19: 56,904,214 (GRCm39) Y691F probably benign Het
Akna A G 4: 63,289,147 (GRCm39) S1259P probably benign Het
Atad2 G A 15: 57,968,964 (GRCm39) T525I probably damaging Het
Atp2a1 T G 7: 126,049,315 (GRCm39) M576L probably benign Het
B4galt6 T C 18: 20,861,013 (GRCm39) probably benign Het
Best3 A G 10: 116,844,904 (GRCm39) D353G probably benign Het
Btg3 A T 16: 78,161,834 (GRCm39) D125E probably benign Het
Cabin1 A T 10: 75,549,444 (GRCm39) D1320E probably damaging Het
Cachd1 A C 4: 100,852,039 (GRCm39) probably benign Het
Cad T C 5: 31,216,120 (GRCm39) V151A probably benign Het
Capns1 A T 7: 29,893,453 (GRCm39) probably benign Het
Catsperg2 T A 7: 29,404,116 (GRCm39) T860S possibly damaging Het
Ccdc61 T C 7: 18,637,400 (GRCm39) T76A probably benign Het
Cdipt T A 7: 126,578,702 (GRCm39) probably null Het
Cyp2d12 G A 15: 82,440,584 (GRCm39) probably benign Het
Dennd4c C A 4: 86,730,659 (GRCm39) P852Q probably damaging Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dusp16 G C 6: 134,695,284 (GRCm39) L516V probably damaging Het
Eif2ak4 T G 2: 118,305,472 (GRCm39) probably benign Het
Faf2 C T 13: 54,769,658 (GRCm39) A2V possibly damaging Het
Gas2l3 A G 10: 89,252,937 (GRCm39) I236T probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Got1 G T 19: 43,504,222 (GRCm39) S66R probably benign Het
Gpr149 T A 3: 62,510,110 (GRCm39) H335L possibly damaging Het
Hadhb A G 5: 30,383,804 (GRCm39) I342M probably benign Het
Helz T A 11: 107,577,226 (GRCm39) V1859D unknown Het
Htr1a T A 13: 105,581,595 (GRCm39) N278K probably damaging Het
Inppl1 T C 7: 101,480,795 (GRCm39) E355G probably damaging Het
Isl2 A G 9: 55,452,319 (GRCm39) Y297C probably damaging Het
Kat7 T C 11: 95,182,350 (GRCm39) H250R probably benign Het
Klhl30 A T 1: 91,282,074 (GRCm39) D225V probably benign Het
Mtch2 T C 2: 90,683,174 (GRCm39) probably benign Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Ncoa7 A C 10: 30,577,913 (GRCm39) probably null Het
Or5ak24 T C 2: 85,261,017 (GRCm39) D52G probably benign Het
Or6c8 A G 10: 128,915,062 (GRCm39) Y257H probably damaging Het
Pced1a T A 2: 130,261,763 (GRCm39) S297C probably damaging Het
Pi15 A T 1: 17,673,073 (GRCm39) K91* probably null Het
Pla2g4e C T 2: 120,075,162 (GRCm39) probably benign Het
Plce1 A T 19: 38,766,383 (GRCm39) H2136L probably damaging Het
Plec A G 15: 76,061,084 (GRCm39) L2973P probably damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pramel32 T A 4: 88,552,376 (GRCm39) I2F probably benign Het
R3hdm1 C T 1: 128,159,174 (GRCm39) Q950* probably null Het
Rxra C T 2: 27,649,582 (GRCm39) A429V probably damaging Het
Scnn1a G A 6: 125,299,207 (GRCm39) G96S probably damaging Het
Senp5 T A 16: 31,808,163 (GRCm39) T337S possibly damaging Het
Smg9 A G 7: 24,114,468 (GRCm39) D269G probably damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Tmtc1 C T 6: 148,256,716 (GRCm39) probably benign Het
Vmn2r19 T C 6: 123,312,931 (GRCm39) V667A probably damaging Het
Other mutations in Nuf2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AACATGGCATTTCCTCTAGCTCCAC -3'
(R):5'- GCAGCATCTTAGCAGGACCATACTG -3'

Sequencing Primer
(F):5'- TCTGCACAGACACTAAGTAGTTCAG -3'
(R):5'- ATCTTAGCAGGACCATACTGATCTC -3'
Posted On 2013-07-11