Incidental Mutation 'R0350:Nuf2'
ID |
65376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nuf2
|
Ensembl Gene |
ENSMUSG00000026683 |
Gene Name |
NUF2, NDC80 kinetochore complex component |
Synonyms |
2410003C07Rik, Nuf2R, Cdca1 |
MMRRC Submission |
038557-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.944)
|
Stock # |
R0350 (G1)
|
Quality Score |
95 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
169325503-169359033 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 169341112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028000]
[ENSMUST00000028000]
[ENSMUST00000111368]
[ENSMUST00000111368]
[ENSMUST00000192248]
[ENSMUST00000192248]
|
AlphaFold |
Q99P69 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
A |
8: 10,037,600 (GRCm39) |
Y66N |
probably damaging |
Het |
Apol6 |
C |
T |
15: 76,935,147 (GRCm39) |
Q139* |
probably null |
Het |
Armh1 |
C |
A |
4: 117,072,753 (GRCm39) |
E244* |
probably null |
Het |
Cd1d1 |
A |
T |
3: 86,904,880 (GRCm39) |
H219Q |
probably benign |
Het |
Cdca2 |
A |
G |
14: 67,950,568 (GRCm39) |
L121P |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,607,411 (GRCm39) |
Y255H |
possibly damaging |
Het |
Cog4 |
T |
A |
8: 111,580,328 (GRCm39) |
L133I |
possibly damaging |
Het |
Csf1 |
T |
C |
3: 107,655,922 (GRCm39) |
M370V |
probably benign |
Het |
Ddi2 |
G |
A |
4: 141,412,834 (GRCm39) |
T26M |
probably benign |
Het |
Dhcr7 |
A |
G |
7: 143,391,507 (GRCm39) |
D32G |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,581,706 (GRCm39) |
V16A |
probably benign |
Het |
Exd1 |
T |
C |
2: 119,354,047 (GRCm39) |
N337S |
possibly damaging |
Het |
Flii |
T |
C |
11: 60,612,683 (GRCm39) |
D227G |
probably damaging |
Het |
Hsf1 |
A |
G |
15: 76,384,679 (GRCm39) |
T485A |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,884,505 (GRCm39) |
R2614* |
probably null |
Het |
Iqch |
T |
C |
9: 63,408,158 (GRCm39) |
T630A |
probably benign |
Het |
Itgal |
T |
A |
7: 126,921,253 (GRCm39) |
D770E |
probably damaging |
Het |
Mroh1 |
T |
A |
15: 76,316,449 (GRCm39) |
V759E |
probably damaging |
Het |
Mrps17 |
A |
G |
5: 129,795,209 (GRCm39) |
|
probably benign |
Het |
Mtpap |
A |
G |
18: 4,396,195 (GRCm39) |
S496G |
possibly damaging |
Het |
Nkd1 |
T |
A |
8: 89,311,844 (GRCm39) |
Y39* |
probably null |
Het |
Nmd3 |
A |
G |
3: 69,650,907 (GRCm39) |
Y359C |
probably damaging |
Het |
Nr1h3 |
G |
A |
2: 91,022,170 (GRCm39) |
L153F |
possibly damaging |
Het |
Or4b1b |
T |
C |
2: 90,112,926 (GRCm39) |
|
probably null |
Het |
Or4c113 |
T |
A |
2: 88,885,700 (GRCm39) |
K23N |
probably benign |
Het |
Or8b12i |
A |
T |
9: 20,082,032 (GRCm39) |
Y278* |
probably null |
Het |
Pnn |
T |
C |
12: 59,113,903 (GRCm39) |
|
probably null |
Het |
Ppm1j |
A |
G |
3: 104,690,687 (GRCm39) |
D230G |
probably benign |
Het |
Ppp1r15a |
A |
T |
7: 45,172,442 (GRCm39) |
L650Q |
probably damaging |
Het |
Prss37 |
T |
C |
6: 40,491,893 (GRCm39) |
E229G |
probably damaging |
Het |
Rbm19 |
T |
C |
5: 120,266,372 (GRCm39) |
V465A |
possibly damaging |
Het |
Rubcnl |
G |
T |
14: 75,278,331 (GRCm39) |
V372F |
probably damaging |
Het |
Sema6a |
G |
T |
18: 47,403,785 (GRCm39) |
D595E |
probably benign |
Het |
Slc35c1 |
A |
G |
2: 92,289,377 (GRCm39) |
F43S |
probably damaging |
Het |
Slc39a5 |
C |
T |
10: 128,232,619 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
A |
G |
1: 96,756,574 (GRCm39) |
F583L |
probably benign |
Het |
Sox9 |
A |
G |
11: 112,675,702 (GRCm39) |
Y297C |
probably damaging |
Het |
Taf1b |
A |
G |
12: 24,564,884 (GRCm39) |
D167G |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,861,321 (GRCm39) |
|
probably null |
Het |
Uba6 |
A |
C |
5: 86,292,237 (GRCm39) |
V402G |
possibly damaging |
Het |
Usp43 |
T |
C |
11: 67,767,324 (GRCm39) |
Y682C |
probably damaging |
Het |
Vmn1r195 |
A |
G |
13: 22,463,403 (GRCm39) |
D291G |
probably damaging |
Het |
Xpr1 |
A |
T |
1: 155,206,214 (GRCm39) |
F156Y |
probably damaging |
Het |
Yju2b |
C |
T |
8: 84,987,277 (GRCm39) |
E99K |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,724,124 (GRCm39) |
H2042Q |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,081,222 (GRCm39) |
D417E |
possibly 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 |
|
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 |
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'- TGAATGCACACAGCACTGGCAG -3'
(R):5'- TCAGAAACAAGGCATCAACTCGGAG -3'
Sequencing Primer
(F):5'- GCCACATACTGTTTCTTTAGCAAGG -3'
(R):5'- tccttccttccttccttccc -3'
|
Posted On |
2013-08-08 |