Incidental Mutation 'IGL02418:Zyx'
| ID |
292551 |
| 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 # |
IGL02418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
42326564-42337147 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42334327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 517
(A517V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070635]
[ENSMUST00000073387]
[ENSMUST00000164375]
[ENSMUST00000203401]
[ENSMUST00000203652]
[ENSMUST00000204357]
|
| AlphaFold |
Q62523 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070635
AA Change: A486V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070427
Gene: ENSMUSG00000029860
AA Change: A486V
| 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 benign
Transcript: ENSMUST00000073387
|
| SMART Domains |
Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
EPH_lbd
|
28 |
205 |
3.23e-103 |
SMART |
|
FN3
|
334 |
430 |
8.43e-9 |
SMART |
|
FN3
|
448 |
526 |
1.59e-4 |
SMART |
|
Pfam:EphA2_TM
|
549 |
622 |
3.4e-13 |
PFAM |
|
TyrKc
|
625 |
881 |
2.57e-126 |
SMART |
|
SAM
|
911 |
977 |
4.13e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164375
AA Change: A517V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860
AA Change: A517V
| 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 |
probably damaging
Transcript: ENSMUST00000203401
AA Change: A486V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145236
Gene: ENSMUSG00000029860
AA Change: A486V
| 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 |
probably damaging
Transcript: ENSMUST00000203652
AA Change: A517V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145451
Gene: ENSMUSG00000029860
AA Change: A517V
| 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: ENSMUST00000204270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204357
|
| SMART Domains |
Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
EPH_lbd
|
28 |
205 |
1.1e-105 |
SMART |
|
FN3
|
334 |
430 |
4.2e-11 |
SMART |
|
low complexity region
|
459 |
473 |
N/A |
INTRINSIC |
|
FN3
|
483 |
563 |
2.4e-8 |
SMART |
|
Pfam:EphA2_TM
|
586 |
659 |
7.6e-11 |
PFAM |
|
STYKc
|
662 |
849 |
1.1e-65 |
SMART |
|
SAM
|
879 |
945 |
2.5e-21 |
SMART |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,424,479 (GRCm39) |
|
probably benign |
Het |
| Acsbg2 |
A |
G |
17: 57,156,730 (GRCm39) |
V436A |
probably benign |
Het |
| Afap1l1 |
T |
C |
18: 61,885,648 (GRCm39) |
D156G |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,885,711 (GRCm39) |
R489C |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,490,620 (GRCm39) |
|
probably benign |
Het |
| Bbs5 |
T |
G |
2: 69,485,849 (GRCm39) |
*89G |
probably null |
Het |
| Ceacam5 |
A |
T |
7: 17,493,359 (GRCm39) |
Y794F |
possibly damaging |
Het |
| Ces3b |
T |
C |
8: 105,812,279 (GRCm39) |
V176A |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,642,461 (GRCm39) |
H105R |
probably benign |
Het |
| Chat |
C |
T |
14: 32,168,906 (GRCm39) |
V210I |
possibly damaging |
Het |
| Chd1l |
A |
G |
3: 97,488,415 (GRCm39) |
S534P |
probably benign |
Het |
| Cyb5rl |
T |
C |
4: 106,928,182 (GRCm39) |
L106P |
probably damaging |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,162 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,495,679 (GRCm39) |
C1436R |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,361 (GRCm39) |
F130I |
probably benign |
Het |
| Fryl |
T |
A |
5: 73,267,519 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,671,994 (GRCm39) |
V428A |
probably benign |
Het |
| Ganab |
A |
G |
19: 8,888,433 (GRCm39) |
D496G |
probably null |
Het |
| Gapvd1 |
T |
C |
2: 34,620,530 (GRCm39) |
T44A |
probably benign |
Het |
| Gm17093 |
T |
A |
14: 44,758,185 (GRCm39) |
M122K |
unknown |
Het |
| Gm5356 |
A |
T |
8: 89,914,064 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
G |
T |
1: 75,415,664 (GRCm39) |
G126C |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,467,656 (GRCm39) |
H37R |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,914 (GRCm39) |
I349V |
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,100,533 (GRCm39) |
Y159* |
probably null |
Het |
| Naa16 |
C |
A |
14: 79,620,806 (GRCm39) |
R57L |
probably damaging |
Het |
| Ntmt2 |
A |
T |
1: 163,530,725 (GRCm39) |
V238E |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,787 (GRCm39) |
Y35C |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,454,200 (GRCm39) |
H21Q |
probably damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,284 (GRCm39) |
Y47C |
probably damaging |
Het |
| Paxbp1 |
A |
C |
16: 90,831,000 (GRCm39) |
C459G |
probably damaging |
Het |
| Pnp2 |
C |
T |
14: 51,201,293 (GRCm39) |
R222C |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,556,883 (GRCm39) |
D1652G |
probably damaging |
Het |
| Saxo5 |
T |
A |
8: 3,526,080 (GRCm39) |
F78I |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,075 (GRCm39) |
|
probably benign |
Het |
| Spata4 |
C |
A |
8: 55,062,978 (GRCm39) |
N294K |
probably benign |
Het |
| Tcp11l2 |
T |
A |
10: 84,449,470 (GRCm39) |
Y478* |
probably null |
Het |
| Tcte1 |
T |
A |
17: 45,852,128 (GRCm39) |
S454T |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 60,335,598 (GRCm39) |
V105I |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,829,765 (GRCm39) |
I200N |
probably benign |
Het |
| Tpgs1 |
G |
A |
10: 79,505,289 (GRCm39) |
V16M |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,797,447 (GRCm39) |
T539K |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,293,557 (GRCm39) |
S2542G |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,864 (GRCm39) |
L343H |
probably damaging |
Het |
| Zmat2 |
T |
A |
18: 36,927,392 (GRCm39) |
Y21N |
probably damaging |
Het |
|
| Other mutations in Zyx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01360:Zyx
|
APN |
6 |
42,327,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation