Incidental Mutation 'IGL01522:Ndc80'
| ID |
89422 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndc80
|
| Ensembl Gene |
ENSMUSG00000024056 |
| Gene Name |
NDC80 kinetochore complex component |
| Synonyms |
Kntc2, HEC1, 2610020P18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL01522
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71803095-71833852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71806320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 578
(V578A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024851]
|
| AlphaFold |
Q9D0F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024851
AA Change: V578A
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024851
Gene: ENSMUSG00000024056
AA Change: V578A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndc80_HEC
|
51 |
204 |
3.6e-54 |
PFAM |
|
coiled coil region
|
249 |
423 |
N/A |
INTRINSIC |
|
coiled coil region
|
458 |
599 |
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 component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
T |
C |
15: 11,065,245 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,850,802 (GRCm39) |
N579S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,289,098 (GRCm39) |
|
probably benign |
Het |
| Ankrd39 |
T |
A |
1: 36,581,142 (GRCm39) |
H69L |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,186 (GRCm39) |
M461K |
possibly damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,979,502 (GRCm39) |
C209Y |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,957,989 (GRCm39) |
E779G |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,879,566 (GRCm39) |
Q394R |
probably damaging |
Het |
| Cep85 |
G |
T |
4: 133,879,567 (GRCm39) |
Q394K |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,101,992 (GRCm39) |
Y364C |
probably benign |
Het |
| Fetub |
G |
A |
16: 22,748,391 (GRCm39) |
M1I |
probably null |
Het |
| Greb1 |
T |
C |
12: 16,751,202 (GRCm39) |
I1003V |
probably damaging |
Het |
| Hsf3 |
A |
G |
X: 95,364,200 (GRCm39) |
|
probably benign |
Het |
| Jcad |
A |
G |
18: 4,673,312 (GRCm39) |
N358S |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,493,888 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,059,769 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,258,603 (GRCm39) |
V50A |
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,692,229 (GRCm39) |
W35R |
probably damaging |
Het |
| Nfyc |
T |
C |
4: 120,638,721 (GRCm39) |
E42G |
probably damaging |
Het |
| Or1j15 |
A |
G |
2: 36,459,233 (GRCm39) |
T208A |
probably benign |
Het |
| Or52b4 |
A |
T |
7: 102,184,391 (GRCm39) |
I146F |
probably damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,360 (GRCm39) |
K307E |
possibly damaging |
Het |
| Or8g21 |
A |
T |
9: 38,906,396 (GRCm39) |
C112S |
probably benign |
Het |
| Or9i16 |
A |
T |
19: 13,864,722 (GRCm39) |
L284* |
probably null |
Het |
| Pcdha11 |
T |
C |
18: 37,318,061 (GRCm39) |
F925L |
probably damaging |
Het |
| Pdcd1 |
T |
G |
1: 93,968,571 (GRCm39) |
R154S |
probably benign |
Het |
| Pepd |
T |
A |
7: 34,623,865 (GRCm39) |
D87E |
probably benign |
Het |
| Pfn4 |
A |
G |
12: 4,820,240 (GRCm39) |
T30A |
probably benign |
Het |
| Pgpep1l |
A |
G |
7: 67,887,456 (GRCm39) |
M48T |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,889,748 (GRCm39) |
N340S |
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,844,547 (GRCm39) |
D155G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,622,956 (GRCm39) |
G499S |
probably damaging |
Het |
| Plin3 |
C |
T |
17: 56,587,799 (GRCm39) |
W305* |
probably null |
Het |
| Polq |
C |
A |
16: 36,848,265 (GRCm39) |
L291I |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,532,865 (GRCm39) |
|
probably null |
Het |
| Sdf2l1 |
T |
A |
16: 16,950,014 (GRCm39) |
H54L |
probably damaging |
Het |
| Slc38a2 |
C |
T |
15: 96,590,936 (GRCm39) |
D276N |
possibly damaging |
Het |
| Syk |
A |
G |
13: 52,797,097 (GRCm39) |
T576A |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,339 (GRCm39) |
V302I |
probably benign |
Het |
| Uso1 |
T |
C |
5: 92,329,278 (GRCm39) |
F389L |
probably damaging |
Het |
| Wwc2 |
T |
A |
8: 48,321,668 (GRCm39) |
Y482F |
unknown |
Het |
|
| Other mutations in Ndc80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01691:Ndc80
|
APN |
17 |
71,815,634 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02175:Ndc80
|
APN |
17 |
71,818,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02293:Ndc80
|
APN |
17 |
71,821,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03086:Ndc80
|
APN |
17 |
71,827,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0730:Ndc80
|
UTSW |
17 |
71,803,241 (GRCm39) |
missense |
probably benign |
|
|
R1749:Ndc80
|
UTSW |
17 |
71,808,550 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2061:Ndc80
|
UTSW |
17 |
71,821,213 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2099:Ndc80
|
UTSW |
17 |
71,811,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2911:Ndc80
|
UTSW |
17 |
71,807,371 (GRCm39) |
missense |
probably benign |
|
|
R4598:Ndc80
|
UTSW |
17 |
71,828,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Ndc80
|
UTSW |
17 |
71,828,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Ndc80
|
UTSW |
17 |
71,827,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4775:Ndc80
|
UTSW |
17 |
71,821,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5029:Ndc80
|
UTSW |
17 |
71,815,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5283:Ndc80
|
UTSW |
17 |
71,828,130 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5356:Ndc80
|
UTSW |
17 |
71,828,103 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5412:Ndc80
|
UTSW |
17 |
71,821,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Ndc80
|
UTSW |
17 |
71,807,276 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6031:Ndc80
|
UTSW |
17 |
71,818,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6031:Ndc80
|
UTSW |
17 |
71,818,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6051:Ndc80
|
UTSW |
17 |
71,824,573 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6680:Ndc80
|
UTSW |
17 |
71,824,540 (GRCm39) |
missense |
probably null |
0.46 |
|
R7658:Ndc80
|
UTSW |
17 |
71,815,658 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7716:Ndc80
|
UTSW |
17 |
71,830,589 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7923:Ndc80
|
UTSW |
17 |
71,803,296 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8966:Ndc80
|
UTSW |
17 |
71,815,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8995:Ndc80
|
UTSW |
17 |
71,815,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9245:Ndc80
|
UTSW |
17 |
71,807,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9468:Ndc80
|
UTSW |
17 |
71,806,306 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation