Incidental Mutation 'IGL02175:Ndc80'
ID |
283070 |
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 # |
IGL02175
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
71803095-71833852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 71818414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 314
(M314R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024851]
|
AlphaFold |
Q9D0F1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024851
AA Change: M314R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000024851 Gene: ENSMUSG00000024056 AA Change: M314R
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
Egr1 |
T |
C |
18: 34,996,108 (GRCm39) |
S297P |
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
Hook2 |
T |
A |
8: 85,718,031 (GRCm39) |
W53R |
probably damaging |
Het |
Med19 |
T |
A |
2: 84,509,007 (GRCm39) |
|
probably null |
Het |
Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
Oc90 |
A |
C |
15: 65,755,674 (GRCm39) |
S224R |
possibly damaging |
Het |
Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
Prpf3 |
A |
G |
3: 95,741,419 (GRCm39) |
V579A |
probably damaging |
Het |
Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
Serpina1d |
T |
C |
12: 103,731,955 (GRCm39) |
|
probably null |
Het |
Sik2 |
G |
A |
9: 50,806,909 (GRCm39) |
Q834* |
probably null |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
Tor1aip2 |
T |
C |
1: 155,940,752 (GRCm39) |
S353P |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
probably benign |
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 |
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 |
2015-04-16 |