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)
|
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
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 |
probably benign
Transcript: ENSMUST00000195342
|
Meta Mutation Damage Score |
0.0898 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |