Incidental Mutation 'IGL01360:Zyx'
| ID |
75719 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zyx
|
| Ensembl Gene |
ENSMUSG00000029860 |
| Gene Name |
zyxin |
| Synonyms |
R75157 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01360
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42326564-42337147 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42327378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 59
(R59Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070635]
[ENSMUST00000164375]
[ENSMUST00000203329]
[ENSMUST00000203401]
[ENSMUST00000203652]
[ENSMUST00000203846]
[ENSMUST00000203849]
|
| AlphaFold |
Q62523 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000070635
AA Change: R59Q
|
| SMART Domains |
Protein: ENSMUSP00000070427
Gene: ENSMUSG00000029860
AA Change: R59Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
|
LIM
|
375 |
428 |
2.4e-17 |
SMART |
|
LIM
|
435 |
487 |
7.39e-18 |
SMART |
|
LIM
|
495 |
557 |
9.31e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164375
AA Change: R59Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860
AA Change: R59Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
|
LIM
|
375 |
428 |
2.4e-17 |
SMART |
|
LIM
|
435 |
487 |
7.39e-18 |
SMART |
|
LIM
|
495 |
557 |
9.31e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203290
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203329
AA Change: R59Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144863
Gene: ENSMUSG00000029860
AA Change: R59Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203401
AA Change: R59Q
|
| SMART Domains |
Protein: ENSMUSP00000145236
Gene: ENSMUSG00000029860
AA Change: R59Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
332 |
N/A |
INTRINSIC |
|
LIM
|
344 |
397 |
2.4e-17 |
SMART |
|
LIM
|
404 |
456 |
7.39e-18 |
SMART |
|
LIM
|
464 |
526 |
9.31e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203626
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203652
AA Change: R59Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145451
Gene: ENSMUSG00000029860
AA Change: R59Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
363 |
N/A |
INTRINSIC |
|
LIM
|
375 |
428 |
2.4e-17 |
SMART |
|
LIM
|
435 |
487 |
7.39e-18 |
SMART |
|
LIM
|
495 |
557 |
9.31e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203846
AA Change: R59Q
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145189
Gene: ENSMUSG00000029860
AA Change: R59Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203849
AA Change: R59Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145052
Gene: ENSMUSG00000029860
AA Change: R59Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204480
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking functional copies of this gene are viable, fertile, and develop normally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,325,648 (GRCm39) |
I1517L |
possibly damaging |
Het |
| Akap12 |
A |
T |
10: 4,307,537 (GRCm39) |
D1449V |
probably benign |
Het |
| Alg6 |
T |
A |
4: 99,630,643 (GRCm39) |
Y161N |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,864,482 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
A |
T |
12: 52,565,023 (GRCm39) |
I665F |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,247,131 (GRCm39) |
V123A |
possibly damaging |
Het |
| Carm1 |
C |
T |
9: 21,498,598 (GRCm39) |
T480I |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,591,513 (GRCm39) |
V1032M |
probably damaging |
Het |
| Cdc42bpb |
A |
C |
12: 111,308,509 (GRCm39) |
I101S |
probably damaging |
Het |
| Copa |
C |
A |
1: 171,915,155 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
T |
C |
17: 25,216,547 (GRCm39) |
I189V |
probably damaging |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Egf |
A |
T |
3: 129,533,669 (GRCm39) |
F57Y |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
| Gm14178 |
A |
G |
11: 99,638,269 (GRCm39) |
S37P |
unknown |
Het |
| Gpbp1 |
A |
T |
13: 111,563,075 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,390,981 (GRCm39) |
S3980P |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,617,670 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,881,766 (GRCm39) |
S772P |
probably damaging |
Het |
| Kcng4 |
C |
A |
8: 120,352,416 (GRCm39) |
G498V |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,381,689 (GRCm39) |
D3795A |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,584,772 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
A |
T |
10: 105,659,058 (GRCm39) |
H408Q |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,307,505 (GRCm39) |
E457G |
probably damaging |
Het |
| Mpl |
G |
A |
4: 118,312,858 (GRCm39) |
T158I |
possibly damaging |
Het |
| Mtg2 |
C |
T |
2: 179,725,870 (GRCm39) |
T160I |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,480,110 (GRCm39) |
I59V |
probably benign |
Het |
| Ncapg |
C |
A |
5: 45,831,727 (GRCm39) |
S191* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,928,190 (GRCm39) |
|
probably benign |
Het |
| Or9m1 |
T |
C |
2: 87,733,871 (GRCm39) |
T50A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,847,809 (GRCm39) |
T1245S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,250,770 (GRCm39) |
D443G |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,797,665 (GRCm39) |
D21V |
possibly damaging |
Het |
| Ptchd4 |
C |
A |
17: 42,627,936 (GRCm39) |
H132Q |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,455,481 (GRCm39) |
|
probably benign |
Het |
| Slc30a7 |
A |
T |
3: 115,783,765 (GRCm39) |
V136E |
probably damaging |
Het |
| Slc5a10 |
A |
G |
11: 61,605,962 (GRCm39) |
V116A |
probably damaging |
Het |
| Sos2 |
A |
T |
12: 69,637,574 (GRCm39) |
S1046T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,116,554 (GRCm39) |
S899P |
possibly damaging |
Het |
| Tfr2 |
G |
A |
5: 137,569,953 (GRCm39) |
V120I |
probably benign |
Het |
| Tnfrsf18 |
A |
T |
4: 156,112,493 (GRCm39) |
R117* |
probably null |
Het |
| Trmt9b |
A |
G |
8: 36,979,713 (GRCm39) |
I439V |
probably benign |
Het |
| Vmn1r77 |
T |
G |
7: 11,775,315 (GRCm39) |
F30L |
probably benign |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,603 (GRCm39) |
M688T |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,510 (GRCm39) |
D389E |
possibly damaging |
Het |
| Zpld1 |
T |
G |
16: 55,046,748 (GRCm39) |
N407T |
probably benign |
Het |
| Zranb3 |
C |
T |
1: 127,887,622 (GRCm39) |
W935* |
probably null |
Het |
|
| Other mutations in Zyx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02418:Zyx
|
APN |
6 |
42,334,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Zyx
|
APN |
6 |
42,334,276 (GRCm39) |
nonsense |
probably null |
|
|
R0282:Zyx
|
UTSW |
6 |
42,332,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Zyx
|
UTSW |
6 |
42,328,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Zyx
|
UTSW |
6 |
42,333,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Zyx
|
UTSW |
6 |
42,332,966 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1668:Zyx
|
UTSW |
6 |
42,332,966 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1956:Zyx
|
UTSW |
6 |
42,328,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Zyx
|
UTSW |
6 |
42,327,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Zyx
|
UTSW |
6 |
42,333,093 (GRCm39) |
splice site |
probably null |
|
|
R4817:Zyx
|
UTSW |
6 |
42,333,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5216:Zyx
|
UTSW |
6 |
42,333,466 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6981:Zyx
|
UTSW |
6 |
42,327,291 (GRCm39) |
missense |
unknown |
|
|
R7331:Zyx
|
UTSW |
6 |
42,328,593 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7553:Zyx
|
UTSW |
6 |
42,327,408 (GRCm39) |
missense |
probably null |
0.99 |
|
R7665:Zyx
|
UTSW |
6 |
42,333,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7962:Zyx
|
UTSW |
6 |
42,333,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:Zyx
|
UTSW |
6 |
42,333,384 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9181:Zyx
|
UTSW |
6 |
42,334,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF020:Zyx
|
UTSW |
6 |
42,334,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Zyx
|
UTSW |
6 |
42,332,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0028:Zyx
|
UTSW |
6 |
42,328,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0064:Zyx
|
UTSW |
6 |
42,334,249 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Zyx
|
UTSW |
6 |
42,333,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation