Incidental Mutation 'R0016:Zwint'
| ID |
8281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zwint
|
| Ensembl Gene |
ENSMUSG00000019923 |
| Gene Name |
ZW10 interactor |
| Synonyms |
2600001N01Rik, 2010007E07Rik, D10Ertd749e |
| MMRRC Submission |
038311-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0016 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
72490678-72510796 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 72493030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020081]
[ENSMUST00000105431]
[ENSMUST00000160337]
[ENSMUST00000219352]
|
| AlphaFold |
Q9CQU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020081
|
| SMART Domains |
Protein: ENSMUSP00000020081
Gene: ENSMUSG00000019923
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:Zwint
|
35 |
250 |
8.1e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105431
|
| SMART Domains |
Protein: ENSMUSP00000101071
Gene: ENSMUSG00000019923
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:Zwint
|
35 |
250 |
8.1e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160337
|
| SMART Domains |
Protein: ENSMUSP00000124429
Gene: ENSMUSG00000019923
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:Zwint
|
35 |
250 |
4.4e-85 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219352
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 81.7%
- 3x: 74.6%
- 10x: 53.6%
- 20x: 32.4%
|
| Validation Efficiency |
93% (85/91) |
| 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 clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
| C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
| Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
| Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
| Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
| Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
| Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
| Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
| Sycp2l |
A |
G |
13: 41,310,976 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
| Trgv5 |
G |
A |
13: 19,376,889 (GRCm39) |
W112* |
probably null |
Het |
| Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
|
| Other mutations in Zwint |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Zwint
|
APN |
10 |
72,493,019 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02334:Zwint
|
APN |
10 |
72,490,815 (GRCm39) |
splice site |
probably null |
|
|
IGL02936:Zwint
|
APN |
10 |
72,492,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0016:Zwint
|
UTSW |
10 |
72,493,030 (GRCm39) |
unclassified |
probably benign |
|
|
R0365:Zwint
|
UTSW |
10 |
72,493,127 (GRCm39) |
nonsense |
probably null |
|
|
R1628:Zwint
|
UTSW |
10 |
72,492,127 (GRCm39) |
nonsense |
probably null |
|
|
R4405:Zwint
|
UTSW |
10 |
72,492,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Zwint
|
UTSW |
10 |
72,491,788 (GRCm39) |
unclassified |
probably benign |
|
|
R5874:Zwint
|
UTSW |
10 |
72,492,294 (GRCm39) |
intron |
probably benign |
|
|
R6019:Zwint
|
UTSW |
10 |
72,492,685 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6181:Zwint
|
UTSW |
10 |
72,492,431 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6333:Zwint
|
UTSW |
10 |
72,490,784 (GRCm39) |
unclassified |
probably benign |
|
|
R7880:Zwint
|
UTSW |
10 |
72,492,924 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9681:Zwint
|
UTSW |
10 |
72,493,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-21 |
Incidental Mutation