Incidental Mutation 'R5742:Nuf2'
ID |
445597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nuf2
|
Ensembl Gene |
ENSMUSG00000026683 |
Gene Name |
NUF2, NDC80 kinetochore complex component |
Synonyms |
2410003C07Rik, Nuf2R, Cdca1 |
MMRRC Submission |
043352-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.944)
|
Stock # |
R5742 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
169325503-169359033 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 169344191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 125
(I125N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028000]
[ENSMUST00000111368]
[ENSMUST00000192248]
|
AlphaFold |
Q99P69 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028000
AA Change: I125N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028000 Gene: ENSMUSG00000026683 AA Change: I125N
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 damaging
Transcript: ENSMUST00000111368
AA Change: I125N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106999 Gene: ENSMUSG00000026683 AA Change: I125N
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 damaging
Transcript: ENSMUST00000192248
AA Change: I125N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141427 Gene: ENSMUSG00000026683 AA Change: I125N
Domain | Start | End | E-Value | Type |
Pfam:Nuf2
|
1 |
149 |
2.3e-43 |
PFAM |
SCOP:d1ab4__
|
154 |
210 |
9e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195342
AA Change: I16N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
T |
11: 72,056,379 (GRCm39) |
A794T |
possibly damaging |
Het |
Abca9 |
T |
G |
11: 110,051,243 (GRCm39) |
E151A |
probably damaging |
Het |
Abcb5 |
A |
G |
12: 118,881,992 (GRCm39) |
V579A |
probably damaging |
Het |
Apob |
T |
A |
12: 8,057,191 (GRCm39) |
L1858Q |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,025,773 (GRCm39) |
E223K |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 45,897,860 (GRCm39) |
Y179* |
probably null |
Het |
Ddx60 |
A |
T |
8: 62,401,955 (GRCm39) |
Y277F |
probably benign |
Het |
Dlgap1 |
T |
G |
17: 71,025,194 (GRCm39) |
V538G |
probably benign |
Het |
Duox2 |
A |
G |
2: 122,115,402 (GRCm39) |
I1050T |
probably benign |
Het |
Dusp10 |
A |
G |
1: 183,769,853 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
T |
A |
9: 7,165,762 (GRCm39) |
I500F |
possibly damaging |
Het |
Erich3 |
T |
A |
3: 154,438,960 (GRCm39) |
C398S |
probably damaging |
Het |
Fez1 |
G |
A |
9: 36,761,743 (GRCm39) |
|
probably null |
Het |
Fkbp3 |
A |
C |
12: 65,116,812 (GRCm39) |
H41Q |
probably benign |
Het |
Fras1 |
C |
G |
5: 96,916,240 (GRCm39) |
Q3425E |
possibly damaging |
Het |
Fuca1 |
T |
C |
4: 135,650,286 (GRCm39) |
V119A |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,328,616 (GRCm39) |
K414R |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 52,002,335 (GRCm39) |
C200* |
probably null |
Het |
Hmgcs2 |
A |
G |
3: 98,204,832 (GRCm39) |
N330S |
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,123,766 (GRCm39) |
V118A |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,056,112 (GRCm39) |
T511A |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,718,503 (GRCm39) |
S1061P |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,968 (GRCm39) |
V79A |
probably benign |
Het |
Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
Klc4 |
C |
T |
17: 46,953,197 (GRCm39) |
R111Q |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,384,216 (GRCm39) |
D3641G |
probably damaging |
Het |
Map2k1 |
A |
T |
9: 64,101,053 (GRCm39) |
D208E |
probably damaging |
Het |
Masp1 |
T |
A |
16: 23,273,675 (GRCm39) |
M588L |
probably benign |
Het |
Mgl2 |
T |
A |
11: 70,027,510 (GRCm39) |
N239K |
probably benign |
Het |
Mki67 |
G |
A |
7: 135,306,102 (GRCm39) |
T625M |
probably benign |
Het |
Ndufb5 |
T |
C |
3: 32,801,930 (GRCm39) |
Y112H |
probably damaging |
Het |
Npr3 |
A |
G |
15: 11,883,494 (GRCm39) |
S312P |
probably damaging |
Het |
Obox1 |
G |
A |
7: 15,289,430 (GRCm39) |
G73D |
possibly damaging |
Het |
Odad4 |
G |
A |
11: 100,436,699 (GRCm39) |
G25R |
possibly damaging |
Het |
Or51a43 |
G |
T |
7: 103,717,412 (GRCm39) |
H275Q |
probably damaging |
Het |
Or8g19 |
T |
A |
9: 39,055,974 (GRCm39) |
F193I |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,607,820 (GRCm39) |
S351P |
probably damaging |
Het |
Phc2 |
G |
T |
4: 128,639,661 (GRCm39) |
R121L |
probably damaging |
Het |
Pla2g2a |
A |
G |
4: 138,560,653 (GRCm39) |
K87E |
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,905,408 (GRCm39) |
S1101T |
probably damaging |
Het |
Ppp4r1 |
T |
C |
17: 66,144,741 (GRCm39) |
I786T |
probably damaging |
Het |
Prxl2a |
T |
C |
14: 40,724,460 (GRCm39) |
E57G |
possibly damaging |
Het |
Ros1 |
A |
T |
10: 52,018,234 (GRCm39) |
|
probably null |
Het |
Styxl2 |
A |
T |
1: 165,927,023 (GRCm39) |
V863E |
probably benign |
Het |
Trnt1 |
T |
A |
6: 106,755,878 (GRCm39) |
L311* |
probably null |
Het |
Vmn1r47 |
T |
A |
6: 89,999,500 (GRCm39) |
L211M |
probably damaging |
Het |
Zfp12 |
A |
G |
5: 143,230,945 (GRCm39) |
E424G |
probably damaging |
Het |
Zranb2 |
T |
A |
3: 157,246,340 (GRCm39) |
Y17* |
probably null |
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 |
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'- GCATCTTGCAACCATCTTGG -3'
(R):5'- AAAGGTAATTCCAGTCTGAGTGAC -3'
Sequencing Primer
(F):5'- CCTAATGCAAGGAATAATGTCTCAAC -3'
(R):5'- TCTGAGTGACACAGACATTCC -3'
|
Posted On |
2016-11-21 |