Incidental Mutation 'IGL01895:Lpxn'
| ID |
179351 |
| 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 # |
IGL01895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12773557-12811171 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12810450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 298
(D298G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025601]
|
| AlphaFold |
Q99N69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025601
AA Change: D298G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025601
Gene: ENSMUSG00000024696
AA Change: D298G
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
T |
7: 45,678,482 (GRCm39) |
I56N |
possibly damaging |
Het |
| Akr1c13 |
A |
T |
13: 4,255,372 (GRCm39) |
E321V |
possibly damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,357,662 (GRCm39) |
V1119D |
possibly damaging |
Het |
| Cacna1e |
G |
T |
1: 154,319,646 (GRCm39) |
F1351L |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,274 (GRCm39) |
W585R |
probably damaging |
Het |
| Ccdc113 |
C |
T |
8: 96,263,086 (GRCm39) |
|
probably benign |
Het |
| Ccer1 |
A |
T |
10: 97,529,912 (GRCm39) |
I192F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,436,551 (GRCm39) |
N90S |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,453,333 (GRCm39) |
C463* |
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,258,591 (GRCm39) |
V2279E |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,060,676 (GRCm39) |
C179S |
possibly damaging |
Het |
| Dennd4b |
A |
G |
3: 90,182,874 (GRCm39) |
Q35R |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,063,983 (GRCm39) |
E928G |
possibly damaging |
Het |
| Fem1c |
T |
C |
18: 46,638,629 (GRCm39) |
T458A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,342,498 (GRCm38) |
*456R |
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Iqcm |
T |
G |
8: 76,615,188 (GRCm39) |
L423R |
probably damaging |
Het |
| Kcnc4 |
C |
A |
3: 107,355,534 (GRCm39) |
V305L |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,953,455 (GRCm39) |
T1337I |
possibly damaging |
Het |
| Lypd8 |
A |
G |
11: 58,281,046 (GRCm39) |
T203A |
possibly damaging |
Het |
| Mrps28 |
C |
T |
3: 8,965,119 (GRCm39) |
V107M |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,774,324 (GRCm39) |
E586G |
possibly damaging |
Het |
| Pdzk1 |
C |
T |
3: 96,776,417 (GRCm39) |
A459V |
possibly damaging |
Het |
| Rbpj |
A |
G |
5: 53,808,728 (GRCm39) |
D285G |
probably damaging |
Het |
| Rimbp3 |
T |
C |
16: 17,029,300 (GRCm39) |
L908P |
probably damaging |
Het |
| Samd4b |
T |
C |
7: 28,101,334 (GRCm39) |
|
probably null |
Het |
| Slc28a2b |
A |
C |
2: 122,355,572 (GRCm39) |
Y588S |
possibly damaging |
Het |
| Stau2 |
C |
T |
1: 16,416,161 (GRCm39) |
G401S |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,957,867 (GRCm39) |
I697K |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,205,491 (GRCm39) |
V285G |
possibly damaging |
Het |
| Unc5b |
A |
G |
10: 60,602,864 (GRCm39) |
F845S |
probably damaging |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,245 (GRCm39) |
Q266L |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,227 (GRCm39) |
N228S |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,836 (GRCm39) |
F919S |
possibly damaging |
Het |
| Zbtb38 |
C |
T |
9: 96,570,461 (GRCm39) |
V208I |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,427 (GRCm39) |
T142S |
probably damaging |
Het |
| Zfp990 |
C |
A |
4: 145,263,428 (GRCm39) |
T142N |
probably damaging |
Het |
|
| Other mutations in Lpxn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03088:Lpxn
|
APN |
19 |
12,810,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03203:Lpxn
|
APN |
19 |
12,796,770 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2014-05-07 |
Incidental Mutation