Incidental Mutation 'IGL03203:Lpxn'
| ID |
413057 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lpxn
|
| Ensembl Gene |
ENSMUSG00000024696 |
| Gene Name |
leupaxin |
| Synonyms |
4933402K05Rik, A530083L21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03203
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12773557-12811171 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12796770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 97
(M97L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025601]
|
| AlphaFold |
Q99N69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025601
AA Change: M97L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025601
Gene: ENSMUSG00000024696
AA Change: M97L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
LIM
|
151 |
202 |
3.17e-17 |
SMART |
|
LIM
|
210 |
261 |
1.98e-18 |
SMART |
|
LIM
|
269 |
320 |
3.26e-19 |
SMART |
|
LIM
|
328 |
379 |
3.34e-16 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
T |
G |
7: 66,711,856 (GRCm39) |
I725S |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,116,073 (GRCm39) |
Y292H |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,817,828 (GRCm39) |
C638Y |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,851,216 (GRCm39) |
M136K |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 114,005,733 (GRCm39) |
I482V |
possibly damaging |
Het |
| Col4a3 |
A |
T |
1: 82,650,360 (GRCm39) |
K539* |
probably null |
Het |
| D630045J12Rik |
A |
G |
6: 38,145,156 (GRCm39) |
V1290A |
probably damaging |
Het |
| Ear6 |
T |
G |
14: 52,091,703 (GRCm39) |
S83R |
probably benign |
Het |
| Gdf10 |
T |
C |
14: 33,656,430 (GRCm39) |
V464A |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,296,182 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
G |
T |
18: 77,095,220 (GRCm39) |
A194E |
probably damaging |
Het |
| Mn1 |
T |
C |
5: 111,569,269 (GRCm39) |
S1080P |
probably benign |
Het |
| Nadk |
T |
C |
4: 155,669,708 (GRCm39) |
F89L |
probably damaging |
Het |
| Nek5 |
G |
A |
8: 22,608,784 (GRCm39) |
R92W |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipal4 |
C |
A |
11: 46,041,123 (GRCm39) |
L357F |
probably damaging |
Het |
| Or12d12 |
A |
G |
17: 37,611,317 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,585 (GRCm39) |
N169D |
possibly damaging |
Het |
| Plppr4 |
A |
G |
3: 117,119,540 (GRCm39) |
C290R |
possibly damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,145 (GRCm39) |
D332G |
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,031,973 (GRCm39) |
D278N |
probably damaging |
Het |
| Taok1 |
A |
G |
11: 77,430,911 (GRCm39) |
V838A |
probably damaging |
Het |
| Thoc1 |
T |
A |
18: 9,960,483 (GRCm39) |
|
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,176,636 (GRCm39) |
V61I |
probably benign |
Het |
| Uxs1 |
A |
G |
1: 43,846,504 (GRCm39) |
|
probably benign |
Het |
| Zmat4 |
C |
T |
8: 24,505,200 (GRCm39) |
H147Y |
probably damaging |
Het |
|
| Other mutations in Lpxn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01895:Lpxn
|
APN |
19 |
12,810,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03088:Lpxn
|
APN |
19 |
12,810,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mascherano
|
UTSW |
19 |
12,810,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0848:Lpxn
|
UTSW |
19 |
12,781,401 (GRCm39) |
missense |
probably benign |
|
|
R1514:Lpxn
|
UTSW |
19 |
12,801,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Lpxn
|
UTSW |
19 |
12,781,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1880:Lpxn
|
UTSW |
19 |
12,781,452 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1937:Lpxn
|
UTSW |
19 |
12,802,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2182:Lpxn
|
UTSW |
19 |
12,810,122 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2897:Lpxn
|
UTSW |
19 |
12,796,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4194:Lpxn
|
UTSW |
19 |
12,810,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Lpxn
|
UTSW |
19 |
12,810,654 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4844:Lpxn
|
UTSW |
19 |
12,810,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5567:Lpxn
|
UTSW |
19 |
12,810,023 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5570:Lpxn
|
UTSW |
19 |
12,810,023 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6060:Lpxn
|
UTSW |
19 |
12,810,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Lpxn
|
UTSW |
19 |
12,802,163 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6615:Lpxn
|
UTSW |
19 |
12,802,163 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7116:Lpxn
|
UTSW |
19 |
12,788,622 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7135:Lpxn
|
UTSW |
19 |
12,810,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Lpxn
|
UTSW |
19 |
12,802,185 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8290:Lpxn
|
UTSW |
19 |
12,810,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Lpxn
|
UTSW |
19 |
12,802,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Lpxn
|
UTSW |
19 |
12,810,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9415:Lpxn
|
UTSW |
19 |
12,802,336 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Lpxn
|
UTSW |
19 |
12,802,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation