Incidental Mutation 'R6583:Nuf2'
ID |
524207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nuf2
|
Ensembl Gene |
ENSMUSG00000026683 |
Gene Name |
NUF2, NDC80 kinetochore complex component |
Synonyms |
2410003C07Rik, Nuf2R, Cdca1 |
MMRRC Submission |
044707-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.944)
|
Stock # |
R6583 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
169325503-169359033 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 169332117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 393
(T393A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028000]
[ENSMUST00000111368]
|
AlphaFold |
Q99P69 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028000
AA Change: T393A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028000 Gene: ENSMUSG00000026683 AA Change: T393A
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
AA Change: T393A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106999 Gene: ENSMUSG00000026683 AA Change: T393A
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: ENSMUST00000195342
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
A |
C |
3: 126,810,613 (GRCm39) |
I491S |
probably damaging |
Het |
Armc12 |
A |
T |
17: 28,757,588 (GRCm39) |
Q240L |
probably null |
Het |
Cntnap5c |
C |
T |
17: 58,637,272 (GRCm39) |
P1050S |
probably damaging |
Het |
Col4a3 |
C |
A |
1: 82,619,197 (GRCm39) |
A42E |
unknown |
Het |
D630003M21Rik |
A |
G |
2: 158,062,436 (GRCm39) |
V28A |
probably damaging |
Het |
Dbf4 |
A |
G |
5: 8,448,143 (GRCm39) |
S355P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,150,516 (GRCm39) |
V749A |
probably benign |
Het |
Exoc4 |
T |
C |
6: 33,792,688 (GRCm39) |
L606P |
probably damaging |
Het |
Fggy |
T |
C |
4: 95,489,210 (GRCm39) |
S109P |
probably benign |
Het |
Gdf7 |
T |
A |
12: 8,351,758 (GRCm39) |
Q59L |
unknown |
Het |
M6pr |
T |
C |
6: 122,290,349 (GRCm39) |
V104A |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,364,739 (GRCm39) |
|
probably null |
Het |
Micu2 |
T |
C |
14: 58,181,127 (GRCm39) |
K169R |
probably damaging |
Het |
Mthfd1l |
A |
G |
10: 3,997,937 (GRCm39) |
D636G |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nfib |
T |
G |
4: 82,416,708 (GRCm39) |
D125A |
probably damaging |
Het |
Or8b49 |
G |
A |
9: 38,506,260 (GRCm39) |
V248I |
possibly damaging |
Het |
Paox |
T |
A |
7: 139,706,291 (GRCm39) |
N70K |
probably damaging |
Het |
Pnma8b |
A |
G |
7: 16,679,844 (GRCm39) |
N276S |
probably damaging |
Het |
Ralgds |
G |
A |
2: 28,423,656 (GRCm39) |
A32T |
probably damaging |
Het |
Samd11 |
T |
A |
4: 156,332,591 (GRCm39) |
N446I |
possibly damaging |
Het |
Soat1 |
T |
C |
1: 156,294,062 (GRCm39) |
|
probably null |
Het |
Tmem87a |
A |
T |
2: 120,205,958 (GRCm39) |
V339E |
possibly damaging |
Het |
Tmprss13 |
G |
T |
9: 45,256,603 (GRCm39) |
C516F |
probably damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,059,017 (GRCm39) |
T515A |
probably benign |
Het |
Xrcc5 |
T |
C |
1: 72,351,752 (GRCm39) |
|
probably null |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
Zfp964 |
G |
T |
8: 70,115,633 (GRCm39) |
D78Y |
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 |
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 |
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'- CAGCAGATGCATAGCTGTGAC -3'
(R):5'- AAGGGTTCTGAGCTTGCTAAG -3'
Sequencing Primer
(F):5'- AGCTGTGACTATCAGAGGGTATCCC -3'
(R):5'- TTGCTAAGCAAGTACCAACACAATGG -3'
|
Posted On |
2018-06-22 |