Incidental Mutation 'IGL02454:Pxn'
| ID |
293775 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pxn
|
| Ensembl Gene |
ENSMUSG00000029528 |
| Gene Name |
paxillin |
| Synonyms |
Pax |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115644735-115694046 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115690325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 256
(P256S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067268]
[ENSMUST00000086523]
[ENSMUST00000202564]
[ENSMUST00000212819]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067268
AA Change: P389S
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000069624
Gene: ENSMUSG00000029528
AA Change: P389S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Pfam:Paxillin
|
44 |
253 |
1.6e-98 |
PFAM |
|
low complexity region
|
281 |
300 |
N/A |
INTRINSIC |
|
LIM
|
323 |
374 |
3.99e-23 |
SMART |
|
LIM
|
382 |
433 |
2.36e-16 |
SMART |
|
LIM
|
441 |
492 |
8.16e-20 |
SMART |
|
LIM
|
500 |
551 |
8.62e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086523
AA Change: P423S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083709
Gene: ENSMUSG00000029528
AA Change: P423S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
|
Pfam:Paxillin
|
44 |
253 |
4.8e-97 |
PFAM |
|
low complexity region
|
315 |
334 |
N/A |
INTRINSIC |
|
LIM
|
357 |
408 |
3.99e-23 |
SMART |
|
LIM
|
416 |
467 |
2.36e-16 |
SMART |
|
LIM
|
475 |
526 |
8.16e-20 |
SMART |
|
LIM
|
534 |
585 |
8.62e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152156
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202564
AA Change: P256S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144459
Gene: ENSMUSG00000029528
AA Change: P256S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Paxillin
|
1 |
120 |
5.8e-59 |
PFAM |
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
LIM
|
190 |
241 |
1.9e-25 |
SMART |
|
LIM
|
249 |
300 |
1.1e-18 |
SMART |
|
LIM
|
308 |
359 |
4e-22 |
SMART |
|
LIM
|
367 |
418 |
4.4e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212819
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutant mice die at E9.5 with defects in the amnion, allantois, and headfold structures, as well as impaired growth, and abnormal heart and somite development; mutant fibroblasts show aberrant fibronectin-regulated focal adhesion dynamics, and disorganized membrane cytoskeletal structures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amz2 |
T |
G |
11: 109,324,887 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,051,560 (GRCm39) |
F1104S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,579,141 (GRCm39) |
N1610S |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,864,318 (GRCm39) |
D122E |
probably damaging |
Het |
| Crtc2 |
G |
A |
3: 90,166,474 (GRCm39) |
G65S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,971,593 (GRCm39) |
T2160A |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,032,483 (GRCm39) |
L278R |
probably damaging |
Het |
| Foxp4 |
A |
T |
17: 48,186,507 (GRCm39) |
L424* |
probably null |
Het |
| Gm10392 |
A |
T |
11: 77,409,216 (GRCm39) |
E310V |
probably damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,815 (GRCm39) |
S133C |
unknown |
Het |
| Hacd2 |
T |
A |
16: 34,926,761 (GRCm39) |
F253L |
probably benign |
Het |
| Il3ra |
T |
C |
14: 14,351,113 (GRCm38) |
S212P |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,694,674 (GRCm39) |
|
probably null |
Het |
| Mtfr1l |
A |
T |
4: 134,257,696 (GRCm39) |
L111H |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,858,741 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
C |
A |
1: 173,098,507 (GRCm39) |
S255Y |
probably damaging |
Het |
| Or52d1 |
T |
C |
7: 103,755,819 (GRCm39) |
V111A |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,075,231 (GRCm39) |
F357I |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,525,891 (GRCm39) |
V450L |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,411,456 (GRCm39) |
K764R |
probably benign |
Het |
| Rbm25 |
T |
A |
12: 83,707,096 (GRCm39) |
F247L |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,675,970 (GRCm39) |
T62M |
possibly damaging |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,499 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
A |
G |
9: 119,587,610 (GRCm39) |
I1378T |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,319 (GRCm39) |
S69P |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,605 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tex55 |
T |
A |
16: 38,648,309 (GRCm39) |
T267S |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,298,882 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
G |
1: 150,306,943 (GRCm39) |
S1587G |
probably benign |
Het |
| Trappc6b |
A |
G |
12: 59,090,433 (GRCm39) |
*97Q |
probably null |
Het |
| Usf3 |
T |
C |
16: 44,037,545 (GRCm39) |
V675A |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,929,299 (GRCm39) |
T1045M |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,552,254 (GRCm39) |
C618S |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,817,301 (GRCm39) |
V47A |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,211 (GRCm39) |
N423S |
probably benign |
Het |
|
| Other mutations in Pxn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02332:Pxn
|
APN |
5 |
115,682,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02432:Pxn
|
APN |
5 |
115,683,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Pxn
|
UTSW |
5 |
115,692,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0778:Pxn
|
UTSW |
5 |
115,690,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Pxn
|
UTSW |
5 |
115,690,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Pxn
|
UTSW |
5 |
115,683,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Pxn
|
UTSW |
5 |
115,683,726 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2145:Pxn
|
UTSW |
5 |
115,690,815 (GRCm39) |
unclassified |
probably benign |
|
|
R4124:Pxn
|
UTSW |
5 |
115,684,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4126:Pxn
|
UTSW |
5 |
115,684,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Pxn
|
UTSW |
5 |
115,684,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Pxn
|
UTSW |
5 |
115,690,779 (GRCm39) |
unclassified |
probably benign |
|
|
R4717:Pxn
|
UTSW |
5 |
115,690,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5217:Pxn
|
UTSW |
5 |
115,682,974 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5332:Pxn
|
UTSW |
5 |
115,682,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Pxn
|
UTSW |
5 |
115,689,551 (GRCm39) |
missense |
probably benign |
|
|
R5681:Pxn
|
UTSW |
5 |
115,682,593 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6629:Pxn
|
UTSW |
5 |
115,692,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Pxn
|
UTSW |
5 |
115,689,955 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7516:Pxn
|
UTSW |
5 |
115,644,922 (GRCm39) |
missense |
unknown |
|
|
R7671:Pxn
|
UTSW |
5 |
115,686,606 (GRCm39) |
missense |
not run |
|
|
R7749:Pxn
|
UTSW |
5 |
115,686,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7866:Pxn
|
UTSW |
5 |
115,686,665 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8196:Pxn
|
UTSW |
5 |
115,683,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8244:Pxn
|
UTSW |
5 |
115,690,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Pxn
|
UTSW |
5 |
115,686,680 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0018:Pxn
|
UTSW |
5 |
115,683,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Pxn
|
UTSW |
5 |
115,684,954 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0065:Pxn
|
UTSW |
5 |
115,689,546 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Pxn
|
UTSW |
5 |
115,691,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation