Incidental Mutation 'R2911:Ndc80'
| ID |
261272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndc80
|
| Ensembl Gene |
ENSMUSG00000024056 |
| Gene Name |
NDC80 kinetochore complex component |
| Synonyms |
Kntc2, HEC1, 2610020P18Rik |
| MMRRC Submission |
040498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R2911 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71803095-71833852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71807371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 528
(S528R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024851]
|
| AlphaFold |
Q9D0F1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024851
AA Change: S528R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024851
Gene: ENSMUSG00000024056
AA Change: S528R
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Adam10 |
C |
T |
9: 70,626,005 (GRCm39) |
S91L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,497,553 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,414,775 (GRCm39) |
V373A |
probably damaging |
Het |
| Cyp2c65 |
T |
G |
19: 39,076,126 (GRCm39) |
I359M |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,723 (GRCm39) |
K282* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,466,983 (GRCm39) |
|
probably null |
Het |
| Dzip1l |
T |
C |
9: 99,537,655 (GRCm39) |
V419A |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,472,775 (GRCm39) |
V370G |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,207,799 (GRCm39) |
D2457G |
probably damaging |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
| Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,556,767 (GRCm39) |
I220F |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,704 (GRCm39) |
E340G |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,462,117 (GRCm39) |
I17V |
possibly damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
| Or7e177 |
A |
G |
9: 20,211,775 (GRCm39) |
K94R |
possibly damaging |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rin3 |
T |
G |
12: 102,339,843 (GRCm39) |
S598A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,132,896 (GRCm39) |
E1690D |
probably benign |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Sox17 |
A |
T |
1: 4,563,354 (GRCm39) |
D92E |
probably damaging |
Het |
| Spata21 |
A |
G |
4: 140,830,393 (GRCm39) |
M288V |
possibly damaging |
Het |
| Sra1 |
T |
C |
18: 36,809,238 (GRCm39) |
D273G |
possibly damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,799 (GRCm39) |
I448T |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
C |
A |
4: 3,585,616 (GRCm39) |
N164K |
probably benign |
Het |
| Tmem72 |
T |
A |
6: 116,675,292 (GRCm39) |
I67F |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,418 (GRCm39) |
S88P |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCATTCTTTATATCCCAAATGGC -3'
(R):5'- GTACAGCACTCCCCAGGGG -3'
Sequencing Primer
(F):5'- TTGGCCTTGAACTCACAGAG -3'
(R):5'- CCCAGGGGAGCAGCTAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation