Incidental Mutation 'IGL03086:Ndc80'
| ID |
418102 |
| 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: 0.965)
|
| Stock # |
IGL03086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
71803095-71833852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71827920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 104
(T104I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024851]
|
| AlphaFold |
Q9D0F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024851
AA Change: T104I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000024851
Gene: ENSMUSG00000024056
AA Change: T104I
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
G |
1: 72,682,437 (GRCm39) |
I1158T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,621,249 (GRCm39) |
S868P |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,833,127 (GRCm39) |
|
probably null |
Het |
| Cadm4 |
A |
T |
7: 24,200,240 (GRCm39) |
N250Y |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,891,649 (GRCm39) |
E75G |
possibly damaging |
Het |
| Cdc23 |
A |
C |
18: 34,770,239 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,400,621 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,960,061 (GRCm39) |
|
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,154,788 (GRCm39) |
V73M |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,961,754 (GRCm39) |
L2297P |
probably damaging |
Het |
| Eif2a |
A |
G |
3: 58,448,538 (GRCm39) |
I124V |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,960,951 (GRCm39) |
I226K |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,191,814 (GRCm39) |
Y331* |
probably null |
Het |
| Helq |
T |
C |
5: 100,944,793 (GRCm39) |
T106A |
possibly damaging |
Het |
| Ly9 |
A |
T |
1: 171,432,738 (GRCm39) |
Y92N |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,415,666 (GRCm39) |
C1256Y |
probably damaging |
Het |
| Or1x2 |
T |
A |
11: 50,918,557 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2y1d |
A |
G |
11: 49,321,632 (GRCm39) |
T110A |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,549,613 (GRCm39) |
F13S |
probably damaging |
Het |
| Or5e1 |
A |
T |
7: 108,355,003 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,969,273 (GRCm39) |
N679S |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,911,411 (GRCm39) |
R2382K |
probably benign |
Het |
| Recql4 |
C |
T |
15: 76,590,468 (GRCm39) |
R672Q |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,945 (GRCm39) |
N197S |
probably damaging |
Het |
| Sirpb1a |
C |
A |
3: 15,491,388 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,054,856 (GRCm39) |
D832E |
probably benign |
Het |
| Slc13a1 |
G |
A |
6: 24,118,002 (GRCm39) |
A245V |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,548,633 (GRCm39) |
D635G |
probably damaging |
Het |
| Utp18 |
T |
C |
11: 93,766,882 (GRCm39) |
Q275R |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,058,692 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,342,338 (GRCm39) |
V36A |
probably damaging |
Het |
|
| Other mutations in Ndc80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01522:Ndc80
|
APN |
17 |
71,806,320 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation