Incidental Mutation 'R8471:Zw10'
| ID |
657030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zw10
|
| Ensembl Gene |
ENSMUSG00000032264 |
| Gene Name |
zw10 kinetochore protein |
| Synonyms |
MmZw10, 6330566F14Rik |
| MMRRC Submission |
067915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
48966913-48990075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48982914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 515
(I515N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034803]
|
| AlphaFold |
O54692 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034803
AA Change: I515N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034803
Gene: ENSMUSG00000032264
AA Change: I515N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zw10
|
9 |
621 |
2.1e-249 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213787
|
| Meta Mutation Damage Score |
0.9243 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
T |
A |
1: 57,422,223 (GRCm39) |
C200S |
probably damaging |
Het |
| Abca1 |
G |
A |
4: 53,044,187 (GRCm39) |
H1812Y |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,594,591 (GRCm39) |
D4141V |
probably benign |
Het |
| Arhgef38 |
A |
T |
3: 132,940,472 (GRCm39) |
V38E |
probably damaging |
Het |
| Arl15 |
T |
A |
13: 114,037,632 (GRCm39) |
|
probably benign |
Het |
| Cwh43 |
T |
A |
5: 73,591,644 (GRCm39) |
L493Q |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,138,650 (GRCm39) |
H231Y |
possibly damaging |
Het |
| Eif2d |
C |
A |
1: 131,092,155 (GRCm39) |
Q309K |
probably benign |
Het |
| Epop |
A |
G |
11: 97,520,073 (GRCm39) |
V12A |
possibly damaging |
Het |
| Fkbp5 |
C |
T |
17: 28,634,943 (GRCm39) |
V189I |
probably benign |
Het |
| Ikzf2 |
T |
C |
1: 69,578,499 (GRCm39) |
M343V |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,407,192 (GRCm39) |
L1469* |
probably null |
Het |
| Man2b2 |
A |
T |
5: 36,979,183 (GRCm39) |
W286R |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,358,153 (GRCm39) |
Q1028K |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,013,885 (GRCm39) |
D455V |
possibly damaging |
Het |
| Or10ag60 |
A |
G |
2: 87,437,989 (GRCm39) |
R86G |
probably damaging |
Het |
| Or10d5b |
A |
G |
9: 39,885,901 (GRCm39) |
S73P |
unknown |
Het |
| Or1e32 |
A |
T |
11: 73,705,309 (GRCm39) |
F200I |
probably benign |
Het |
| Or5af1 |
A |
G |
11: 58,722,597 (GRCm39) |
M206V |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,415,308 (GRCm39) |
P606S |
probably benign |
Het |
| Plec |
A |
G |
15: 76,070,620 (GRCm39) |
V894A |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,021,901 (GRCm39) |
N333S |
probably benign |
Het |
| Ptger4 |
A |
T |
15: 5,271,800 (GRCm39) |
M273K |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,464,411 (GRCm39) |
D1372G |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,575,245 (GRCm39) |
K571R |
probably benign |
Het |
| Rarb |
T |
A |
14: 16,548,456 (GRCm38) |
|
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,997,078 (GRCm39) |
V1198A |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,484,125 (GRCm39) |
V3879A |
probably damaging |
Het |
| Serpinb6d |
A |
T |
13: 33,848,137 (GRCm39) |
I34F |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,253,265 (GRCm39) |
I62S |
probably null |
Het |
| Snx9 |
T |
A |
17: 5,940,365 (GRCm39) |
W39R |
probably damaging |
Het |
| Tbcb |
A |
T |
7: 29,931,100 (GRCm39) |
S7T |
probably benign |
Het |
| Ttc21a |
C |
A |
9: 119,792,242 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
G |
A |
17: 87,601,454 (GRCm39) |
G63R |
probably benign |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,440 (GRCm39) |
V65D |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,831,426 (GRCm39) |
Y193C |
probably damaging |
Het |
|
| Other mutations in Zw10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Zw10
|
APN |
9 |
48,980,915 (GRCm39) |
missense |
probably benign |
|
|
IGL02111:Zw10
|
APN |
9 |
48,980,054 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02673:Zw10
|
APN |
9 |
48,988,893 (GRCm39) |
splice site |
probably null |
|
|
PIT4382001:Zw10
|
UTSW |
9 |
48,982,944 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0402:Zw10
|
UTSW |
9 |
48,980,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0736:Zw10
|
UTSW |
9 |
48,975,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1830:Zw10
|
UTSW |
9 |
48,981,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Zw10
|
UTSW |
9 |
48,980,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2231:Zw10
|
UTSW |
9 |
48,975,421 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2474:Zw10
|
UTSW |
9 |
48,978,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Zw10
|
UTSW |
9 |
48,968,941 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3162:Zw10
|
UTSW |
9 |
48,988,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3162:Zw10
|
UTSW |
9 |
48,988,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4893:Zw10
|
UTSW |
9 |
48,985,325 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4927:Zw10
|
UTSW |
9 |
48,979,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Zw10
|
UTSW |
9 |
48,988,759 (GRCm39) |
nonsense |
probably null |
|
|
R5214:Zw10
|
UTSW |
9 |
48,975,463 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5637:Zw10
|
UTSW |
9 |
48,968,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5983:Zw10
|
UTSW |
9 |
48,988,745 (GRCm39) |
splice site |
probably null |
|
|
R6368:Zw10
|
UTSW |
9 |
48,984,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6605:Zw10
|
UTSW |
9 |
48,980,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7221:Zw10
|
UTSW |
9 |
48,981,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7292:Zw10
|
UTSW |
9 |
48,972,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7938:Zw10
|
UTSW |
9 |
48,982,933 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8120:Zw10
|
UTSW |
9 |
48,985,413 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8376:Zw10
|
UTSW |
9 |
48,988,783 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8480:Zw10
|
UTSW |
9 |
48,986,299 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8735:Zw10
|
UTSW |
9 |
48,988,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9699:Zw10
|
UTSW |
9 |
48,966,942 (GRCm39) |
start gained |
probably benign |
|
|
RF007:Zw10
|
UTSW |
9 |
48,972,220 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1177:Zw10
|
UTSW |
9 |
48,985,396 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTTAGAGGTACCGGTTG -3'
(R):5'- GGACACAGTTCTTTTGAGCTTCTAAG -3'
Sequencing Primer
(F):5'- TGGGTGTGTCTCCACCGAG -3'
(R):5'- TACATTCACAGTAATGTCTACAGCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation