Incidental Mutation 'R4272:Zyx'
| ID |
377812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zyx
|
| Ensembl Gene |
ENSMUSG00000029860 |
| Gene Name |
zyxin |
| Synonyms |
R75157 |
| MMRRC Submission |
041644-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4272 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
42326564-42337147 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42327880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 70
(D70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145451
(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: D70G
|
| SMART Domains |
Protein: ENSMUSP00000070427
Gene: ENSMUSG00000029860
AA Change: D70G
| 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: D70G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860
AA Change: D70G
| 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: D70G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144863
Gene: ENSMUSG00000029860
AA Change: D70G
| 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: D70G
|
| SMART Domains |
Protein: ENSMUSP00000145236
Gene: ENSMUSG00000029860
AA Change: D70G
| 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: D70G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145451
Gene: ENSMUSG00000029860
AA Change: D70G
| 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: D70G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145189
Gene: ENSMUSG00000029860
AA Change: D70G
| 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: D70G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145052
Gene: ENSMUSG00000029860
AA Change: D70G
| 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: ENSMUST00000203836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204270
|
| Meta Mutation Damage Score |
0.0802 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,248,884 (GRCm39) |
T556S |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,990 (GRCm39) |
E105G |
probably damaging |
Het |
| Capza3 |
A |
G |
6: 139,988,264 (GRCm39) |
I288V |
probably benign |
Het |
| Chka |
G |
A |
19: 3,925,737 (GRCm39) |
|
probably benign |
Het |
| Cnpy4 |
G |
T |
5: 138,190,853 (GRCm39) |
V159F |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,251,049 (GRCm39) |
I301V |
probably benign |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlec1 |
C |
T |
9: 118,972,231 (GRCm39) |
A1417V |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,149,775 (GRCm39) |
S411P |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,698 (GRCm39) |
S301C |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,340,763 (GRCm39) |
V347A |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,085,734 (GRCm39) |
F641S |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,429,250 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
G |
T |
7: 104,470,535 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Htt |
G |
A |
5: 35,006,413 (GRCm39) |
V1441I |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,818 (GRCm39) |
Y422H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,120,044 (GRCm39) |
M1398V |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,673 (GRCm39) |
N222S |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,909,079 (GRCm39) |
V78E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,442,266 (GRCm39) |
P361S |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,715,882 (GRCm39) |
V70M |
probably damaging |
Het |
| Obox3-ps8 |
A |
C |
17: 36,763,909 (GRCm39) |
|
noncoding transcript |
Het |
| Or4c117 |
A |
G |
2: 88,955,706 (GRCm39) |
V123A |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,343,731 (GRCm39) |
V751I |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,355 (GRCm39) |
L25P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,412,040 (GRCm39) |
I443N |
probably benign |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rragd |
T |
C |
4: 32,996,099 (GRCm39) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,793,483 (GRCm39) |
M30K |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,415,533 (GRCm39) |
C280S |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,116,947 (GRCm39) |
|
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Trhr |
G |
A |
15: 44,060,620 (GRCm39) |
V47I |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,769,476 (GRCm39) |
N749K |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,147,355 (GRCm39) |
W636R |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,608,691 (GRCm39) |
R17775L |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,106 (GRCm39) |
F394S |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGTAACGGGAGCTGCAC -3'
(R):5'- TCTCCAGGTCAATACTGCACAC -3'
Sequencing Primer
(F):5'- GAGCTGCACGGTTCTTCAAC -3'
(R):5'- GTCAAGGGTCAGAGCACCCATC -3'
|
| Posted On |
2016-04-07 |
Incidental Mutation