Incidental Mutation 'IGL02365:Zwilch'
ID |
290704 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zwilch
|
Ensembl Gene |
ENSMUSG00000032400 |
Gene Name |
zwilch kinetochore protein |
Synonyms |
2310031L18Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02365
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
64044426-64080210 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 64068206 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 203
(D203V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122091]
[ENSMUST00000130127]
[ENSMUST00000176299]
[ENSMUST00000176378]
[ENSMUST00000176794]
[ENSMUST00000177045]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122091
AA Change: D222V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112790 Gene: ENSMUSG00000032400 AA Change: D222V
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
38 |
589 |
6e-206 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124301
|
SMART Domains |
Protein: ENSMUSP00000134966 Gene: ENSMUSG00000032400
Domain | Start | End | E-Value | Type |
PDB:3IF8|A
|
3 |
74 |
3e-31 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130127
|
SMART Domains |
Protein: ENSMUSP00000116187 Gene: ENSMUSG00000032400
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
72 |
154 |
8e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176299
AA Change: D101V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135585 Gene: ENSMUSG00000032400 AA Change: D101V
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
1 |
471 |
2.9e-192 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176378
|
SMART Domains |
Protein: ENSMUSP00000134782 Gene: ENSMUSG00000032400
Domain | Start | End | E-Value | Type |
PDB:3IF8|A
|
3 |
74 |
1e-31 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176794
AA Change: D222V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134850 Gene: ENSMUSG00000032400 AA Change: D222V
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
38 |
257 |
8e-67 |
PFAM |
Pfam:DUF2352
|
254 |
568 |
4.4e-131 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177045
AA Change: D203V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135328 Gene: ENSMUSG00000032400 AA Change: D203V
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
19 |
303 |
2.2e-93 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
A |
T |
11: 30,599,318 (GRCm39) |
V21E |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,660,428 (GRCm39) |
D331G |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,270,108 (GRCm39) |
I347N |
probably benign |
Het |
Bfsp1 |
T |
G |
2: 143,668,656 (GRCm39) |
E647A |
probably damaging |
Het |
Bhmt |
A |
T |
13: 93,754,146 (GRCm39) |
N354K |
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,776,860 (GRCm39) |
T436S |
probably benign |
Het |
Capza1b |
T |
C |
X: 168,559,526 (GRCm39) |
N272D |
probably benign |
Het |
Cog7 |
C |
A |
7: 121,576,959 (GRCm39) |
M66I |
possibly damaging |
Het |
Csf2rb2 |
A |
T |
15: 78,171,260 (GRCm39) |
M333K |
possibly damaging |
Het |
Cyp2u1 |
A |
G |
3: 131,091,878 (GRCm39) |
V214A |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,445,547 (GRCm39) |
H177Q |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,404,395 (GRCm39) |
T2716A |
probably benign |
Het |
Dsc1 |
T |
C |
18: 20,241,873 (GRCm39) |
Q156R |
probably damaging |
Het |
Dspp |
G |
T |
5: 104,323,927 (GRCm39) |
G357W |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fto |
T |
G |
8: 92,195,003 (GRCm39) |
S265R |
probably damaging |
Het |
Gphb5 |
A |
G |
12: 75,462,591 (GRCm39) |
|
probably benign |
Het |
Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
Klk13 |
A |
C |
7: 43,373,290 (GRCm39) |
K107T |
possibly damaging |
Het |
Kpna7 |
T |
A |
5: 144,922,543 (GRCm39) |
D507V |
possibly damaging |
Het |
Lamb1 |
A |
T |
12: 31,368,344 (GRCm39) |
E1158V |
probably damaging |
Het |
Lonp2 |
A |
T |
8: 87,442,993 (GRCm39) |
D818V |
possibly damaging |
Het |
Med15 |
A |
G |
16: 17,489,470 (GRCm39) |
|
probably benign |
Het |
Or5p51 |
T |
A |
7: 107,444,119 (GRCm39) |
N274Y |
probably damaging |
Het |
Or6c69b |
T |
C |
10: 129,627,404 (GRCm39) |
D18G |
possibly damaging |
Het |
Or8g52 |
A |
T |
9: 39,630,970 (GRCm39) |
Y149F |
possibly damaging |
Het |
Or8g52 |
G |
A |
9: 39,631,396 (GRCm39) |
S291N |
probably damaging |
Het |
Plpbp |
A |
G |
8: 27,535,952 (GRCm39) |
I82V |
probably benign |
Het |
Ptprcap |
A |
G |
19: 4,206,267 (GRCm39) |
I117V |
probably benign |
Het |
Rhox12 |
T |
A |
X: 37,196,758 (GRCm39) |
D88V |
possibly damaging |
Het |
Rnpc3 |
A |
G |
3: 113,402,048 (GRCm39) |
S500P |
probably damaging |
Het |
Sdhd |
A |
T |
9: 50,510,125 (GRCm39) |
Y84N |
possibly damaging |
Het |
Sema6d |
G |
A |
2: 124,498,788 (GRCm39) |
V233I |
probably benign |
Het |
Vegfb |
A |
T |
19: 6,962,855 (GRCm39) |
I140N |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,223,025 (GRCm39) |
Y732C |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,601,175 (GRCm39) |
F824L |
probably damaging |
Het |
Xdh |
A |
T |
17: 74,250,885 (GRCm39) |
N22K |
probably benign |
Het |
Zc3h11a |
A |
C |
1: 133,565,151 (GRCm39) |
N249K |
probably benign |
Het |
|
Other mutations in Zwilch |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02315:Zwilch
|
APN |
9 |
64,057,549 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02733:Zwilch
|
APN |
9 |
64,054,118 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02818:Zwilch
|
APN |
9 |
64,057,509 (GRCm39) |
missense |
probably damaging |
0.99 |
R1171:Zwilch
|
UTSW |
9 |
64,065,999 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1913:Zwilch
|
UTSW |
9 |
64,068,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R2079:Zwilch
|
UTSW |
9 |
64,060,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R2079:Zwilch
|
UTSW |
9 |
64,060,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R3772:Zwilch
|
UTSW |
9 |
64,063,316 (GRCm39) |
missense |
probably benign |
0.03 |
R4171:Zwilch
|
UTSW |
9 |
64,065,997 (GRCm39) |
nonsense |
probably null |
|
R4298:Zwilch
|
UTSW |
9 |
64,062,444 (GRCm39) |
critical splice donor site |
probably null |
|
R4299:Zwilch
|
UTSW |
9 |
64,062,444 (GRCm39) |
critical splice donor site |
probably null |
|
R4901:Zwilch
|
UTSW |
9 |
64,070,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R5106:Zwilch
|
UTSW |
9 |
64,060,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Zwilch
|
UTSW |
9 |
64,060,205 (GRCm39) |
missense |
probably benign |
0.00 |
R5215:Zwilch
|
UTSW |
9 |
64,054,156 (GRCm39) |
missense |
probably benign |
|
R5413:Zwilch
|
UTSW |
9 |
64,075,892 (GRCm39) |
splice site |
probably null |
|
R5865:Zwilch
|
UTSW |
9 |
64,080,190 (GRCm39) |
start gained |
probably null |
|
R6221:Zwilch
|
UTSW |
9 |
64,068,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R6858:Zwilch
|
UTSW |
9 |
64,060,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R6957:Zwilch
|
UTSW |
9 |
64,069,844 (GRCm39) |
critical splice donor site |
probably null |
|
R6995:Zwilch
|
UTSW |
9 |
64,072,731 (GRCm39) |
nonsense |
probably null |
|
R7104:Zwilch
|
UTSW |
9 |
64,068,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R7595:Zwilch
|
UTSW |
9 |
64,056,546 (GRCm39) |
intron |
probably benign |
|
R7691:Zwilch
|
UTSW |
9 |
64,063,373 (GRCm39) |
missense |
probably benign |
0.18 |
R7743:Zwilch
|
UTSW |
9 |
64,060,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R8378:Zwilch
|
UTSW |
9 |
64,060,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9068:Zwilch
|
UTSW |
9 |
64,075,942 (GRCm39) |
missense |
probably benign |
0.01 |
R9545:Zwilch
|
UTSW |
9 |
64,051,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R9619:Zwilch
|
UTSW |
9 |
64,057,440 (GRCm39) |
missense |
probably benign |
0.05 |
R9711:Zwilch
|
UTSW |
9 |
64,063,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R9777:Zwilch
|
UTSW |
9 |
64,054,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |