Incidental Mutation 'IGL02955:Nuf2'
| ID |
365094 |
| 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 # |
IGL02955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
169325503-169359033 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 169334807 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
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
A |
11: 76,309,991 (GRCm39) |
H840L |
probably damaging |
Het |
| Anks1 |
A |
G |
17: 28,273,291 (GRCm39) |
D970G |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,591 (GRCm39) |
K162R |
probably null |
Het |
| Bicd2 |
T |
C |
13: 49,531,691 (GRCm39) |
V311A |
probably benign |
Het |
| Cblif |
T |
C |
19: 11,725,027 (GRCm39) |
L6P |
possibly damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,437,123 (GRCm39) |
L489P |
probably damaging |
Het |
| Cd55 |
G |
T |
1: 130,377,219 (GRCm39) |
T38K |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,817,676 (GRCm39) |
A749E |
probably benign |
Het |
| Cntn3 |
G |
T |
6: 102,255,262 (GRCm39) |
T212N |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,199,097 (GRCm39) |
|
probably benign |
Het |
| Dclre1c |
A |
G |
2: 3,439,089 (GRCm39) |
E83G |
probably damaging |
Het |
| Dok4 |
T |
C |
8: 95,592,256 (GRCm39) |
N244S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,142,864 (GRCm39) |
T1151A |
probably benign |
Het |
| Fer |
G |
A |
17: 64,298,712 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,584 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,875,014 (GRCm39) |
L991P |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,261 (GRCm39) |
D722G |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,267,565 (GRCm39) |
I586T |
probably benign |
Het |
| Lig1 |
G |
A |
7: 13,030,273 (GRCm39) |
G417R |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,103 (GRCm39) |
I559T |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,343,300 (GRCm39) |
I1731V |
probably benign |
Het |
| Mfsd13a |
T |
G |
19: 46,356,192 (GRCm39) |
V99G |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,264,391 (GRCm39) |
H153R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,060,637 (GRCm39) |
Y724H |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 53,548,048 (GRCm39) |
N101K |
probably damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,682 (GRCm39) |
T249A |
probably damaging |
Het |
| Or11g7 |
C |
T |
14: 50,691,442 (GRCm39) |
T311I |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,222,013 (GRCm39) |
M85L |
probably benign |
Het |
| Polr3c |
A |
G |
3: 96,621,628 (GRCm39) |
Y423H |
probably damaging |
Het |
| Pomgnt2 |
A |
G |
9: 121,811,956 (GRCm39) |
L275P |
probably damaging |
Het |
| Ptprj |
T |
G |
2: 90,298,808 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,053,156 (GRCm39) |
I931T |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
| Rpl10a |
T |
C |
17: 28,547,967 (GRCm39) |
I36T |
probably damaging |
Het |
| Tagap1 |
T |
C |
17: 7,223,781 (GRCm39) |
H305R |
probably damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,508 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,682 (GRCm39) |
E105G |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,798,241 (GRCm39) |
C2055F |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,963 (GRCm39) |
N277S |
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation