Incidental Mutation 'IGL01866:Nuf2'
| ID |
178504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nuf2
|
| Ensembl Gene |
ENSMUSG00000026683 |
| Gene Name |
NUF2, NDC80 kinetochore complex component |
| Synonyms |
2410003C07Rik, Nuf2R, Cdca1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
IGL01866
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
169325503-169359033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 169326407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 448
(L448P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028000]
[ENSMUST00000111368]
|
| AlphaFold |
Q99P69 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028000
AA Change: L448P
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028000
Gene: ENSMUSG00000026683
AA Change: L448P
| 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 |
possibly damaging
Transcript: ENSMUST00000111368
AA Change: L448P
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106999
Gene: ENSMUSG00000026683
AA Change: L448P
| 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 |
|
| Coding Region Coverage |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
C |
4: 144,255,119 (GRCm39) |
Y180H |
possibly damaging |
Het |
| Abi3bp |
A |
T |
16: 56,492,336 (GRCm39) |
I1361L |
probably benign |
Het |
| Amph |
A |
T |
13: 19,326,172 (GRCm39) |
D634V |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,583,871 (GRCm39) |
V317I |
possibly damaging |
Het |
| Ap4e1 |
G |
A |
2: 126,888,830 (GRCm39) |
V460I |
possibly damaging |
Het |
| Arhgap19 |
A |
T |
19: 41,775,016 (GRCm39) |
H198Q |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,347,937 (GRCm39) |
G717D |
probably damaging |
Het |
| Camkk2 |
A |
G |
5: 122,902,013 (GRCm39) |
S99P |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,475,570 (GRCm39) |
Y371* |
probably null |
Het |
| Cbl |
A |
T |
9: 44,065,122 (GRCm39) |
C735* |
probably null |
Het |
| Ccdc146 |
C |
A |
5: 21,538,052 (GRCm39) |
A91S |
probably damaging |
Het |
| Col1a2 |
G |
T |
6: 4,524,132 (GRCm39) |
D531Y |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,486,550 (GRCm39) |
T1042S |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,782,626 (GRCm39) |
Y363C |
probably benign |
Het |
| Ear10 |
A |
G |
14: 44,160,785 (GRCm39) |
L14P |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,529,529 (GRCm39) |
S294P |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,405,237 (GRCm39) |
*1340W |
probably null |
Het |
| Fam217b |
A |
G |
2: 178,062,224 (GRCm39) |
T63A |
probably benign |
Het |
| Fig4 |
G |
A |
10: 41,108,160 (GRCm39) |
P680L |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
| Hdac10 |
C |
A |
15: 89,008,736 (GRCm39) |
G442W |
probably damaging |
Het |
| Mc2r |
C |
T |
18: 68,540,494 (GRCm39) |
M266I |
possibly damaging |
Het |
| Mep1b |
A |
G |
18: 21,228,050 (GRCm39) |
Q551R |
probably benign |
Het |
| Mtrf1 |
T |
A |
14: 79,638,948 (GRCm39) |
C27S |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,176,864 (GRCm39) |
M603K |
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,468,006 (GRCm39) |
M118I |
possibly damaging |
Het |
| Or1e30 |
A |
T |
11: 73,678,654 (GRCm39) |
I297L |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,343 (GRCm39) |
N283S |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,338,025 (GRCm39) |
M114K |
probably damaging |
Het |
| Ppp2r5c |
T |
C |
12: 110,534,261 (GRCm39) |
Y375H |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,965,325 (GRCm39) |
I317M |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,034,570 (GRCm39) |
T208A |
probably benign |
Het |
| Rab3gap1 |
C |
T |
1: 127,818,817 (GRCm39) |
H116Y |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,443,751 (GRCm38) |
D179V |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,813,488 (GRCm39) |
A621T |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,717 (GRCm39) |
R434C |
probably damaging |
Het |
| Scn10a |
C |
A |
9: 119,464,568 (GRCm39) |
E1011* |
probably null |
Het |
| Sec24d |
C |
T |
3: 123,087,244 (GRCm39) |
Q137* |
probably null |
Het |
| Slc35g1 |
C |
A |
19: 38,391,642 (GRCm39) |
A308E |
probably damaging |
Het |
| Smtnl1 |
C |
A |
2: 84,649,089 (GRCm39) |
C55F |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,645,662 (GRCm39) |
D676E |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,031,047 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,266,117 (GRCm39) |
T44A |
probably damaging |
Het |
| Trim12a |
T |
C |
7: 103,953,360 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
A |
T |
2: 157,849,618 (GRCm39) |
D540E |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,691 (GRCm39) |
V1094A |
probably benign |
Het |
| Vmn1r34 |
A |
G |
6: 66,614,373 (GRCm39) |
Y122H |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp579 |
T |
A |
7: 4,997,257 (GRCm39) |
Q218L |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation