Incidental Mutation 'IGL01691:Ndc80'
ID |
104116 |
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 # |
IGL01691
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
71803095-71833852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71815634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 384
(T384A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024851]
|
AlphaFold |
Q9D0F1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024851
AA Change: T384A
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000024851 Gene: ENSMUSG00000024056 AA Change: T384A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158480
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
T |
A |
3: 32,774,349 (GRCm39) |
M282K |
possibly damaging |
Het |
Adam22 |
T |
C |
5: 8,142,742 (GRCm39) |
N831S |
probably damaging |
Het |
Adamdec1 |
C |
T |
14: 68,810,556 (GRCm39) |
R200Q |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,567,271 (GRCm39) |
I531V |
probably benign |
Het |
Btrc |
T |
A |
19: 45,501,117 (GRCm39) |
D223E |
probably benign |
Het |
Ccdc30 |
T |
A |
4: 119,250,761 (GRCm39) |
E161V |
probably damaging |
Het |
Cd38 |
G |
A |
5: 44,060,928 (GRCm39) |
|
probably benign |
Het |
Clec2d |
T |
C |
6: 129,161,185 (GRCm39) |
F94S |
probably damaging |
Het |
Cwf19l1 |
C |
T |
19: 44,109,311 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
T |
11: 69,430,269 (GRCm39) |
N96K |
probably benign |
Het |
Ephb6 |
G |
A |
6: 41,591,449 (GRCm39) |
R202H |
probably benign |
Het |
Gm43191 |
T |
A |
3: 116,471,616 (GRCm39) |
I218L |
probably benign |
Het |
Gm7168 |
G |
A |
17: 14,169,140 (GRCm39) |
S169N |
probably damaging |
Het |
Gm7964 |
T |
C |
7: 83,405,344 (GRCm39) |
|
noncoding transcript |
Het |
Kif20b |
T |
C |
19: 34,913,143 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,702,089 (GRCm39) |
T906A |
probably benign |
Het |
Mboat2 |
A |
G |
12: 25,004,221 (GRCm39) |
N341D |
probably damaging |
Het |
Msh6 |
T |
C |
17: 88,292,907 (GRCm39) |
V554A |
probably benign |
Het |
Or1af1 |
G |
T |
2: 37,110,038 (GRCm39) |
C179F |
probably damaging |
Het |
Or8g18 |
G |
A |
9: 39,149,315 (GRCm39) |
T135I |
probably benign |
Het |
Ptpn5 |
G |
T |
7: 46,732,906 (GRCm39) |
H312Q |
probably benign |
Het |
Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
Rgs20 |
T |
C |
1: 4,987,145 (GRCm39) |
T124A |
probably benign |
Het |
Sox18 |
T |
C |
2: 181,313,143 (GRCm39) |
S58G |
possibly damaging |
Het |
Togaram2 |
A |
G |
17: 72,036,485 (GRCm39) |
M1012V |
probably null |
Het |
Usp48 |
A |
T |
4: 137,350,583 (GRCm39) |
|
probably null |
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 |
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 |
2014-01-21 |