Incidental Mutation 'IGL01895:Lpxn'
ID179351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpxn
Ensembl Gene ENSMUSG00000024696
Gene Nameleupaxin
Synonyms4933402K05Rik, A530083L21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01895
Quality Score
Status
Chromosome19
Chromosomal Location12798606-12833807 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12833086 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,229,107 V2279E possibly damaging Het
Abcc6 A T 7: 46,029,058 I56N possibly damaging Het
Akr1c13 A T 13: 4,205,373 E321V possibly damaging Het
Atp8b3 A T 10: 80,521,828 V1119D possibly damaging Het
Cacna1e G T 1: 154,443,900 F1351L probably damaging Het
Cadps2 A G 6: 23,427,275 W585R probably damaging Het
Ccdc113 C T 8: 95,536,458 probably benign Het
Ccer1 A T 10: 97,694,050 I192F unknown Het
Chd8 T C 14: 52,199,094 N90S probably benign Het
Clca3a1 A T 3: 144,747,572 C463* probably null Het
Cyp2c65 T A 19: 39,072,232 C179S possibly damaging Het
Dennd4b A G 3: 90,275,567 Q35R probably benign Het
Enpep T C 3: 129,270,334 E928G possibly damaging Het
Fem1c T C 18: 46,505,562 T458A probably benign Het
Fezf2 A T 14: 12,342,498 *456R probably null Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14085 A C 2: 122,525,091 Y588S possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Iqcm T G 8: 75,888,560 L423R probably damaging Het
Kcnc4 C A 3: 107,448,218 V305L probably benign Het
Kif1a G A 1: 93,025,733 T1337I possibly damaging Het
Lypd8 A G 11: 58,390,220 T203A possibly damaging Het
Mrps28 C T 3: 8,900,059 V107M probably damaging Het
Myo15b A G 11: 115,883,498 E586G possibly damaging Het
Pdzk1 C T 3: 96,869,101 A459V possibly damaging Het
Rbpj A G 5: 53,651,386 D285G probably damaging Het
Rimbp3 T C 16: 17,211,436 L908P probably damaging Het
Samd4b T C 7: 28,401,909 probably null Het
Stau2 C T 1: 16,345,937 G401S probably damaging Het
Trpa1 A T 1: 14,887,643 I697K possibly damaging Het
Ttc17 A C 2: 94,375,146 V285G possibly damaging Het
Unc5b A G 10: 60,767,085 F845S probably damaging Het
Vmn1r19 A T 6: 57,405,260 Q266L probably benign Het
Vmn2r106 T C 17: 20,278,965 N228S probably benign Het
Vps13d A G 4: 145,156,266 F919S possibly damaging Het
Zbtb38 C T 9: 96,688,408 V208I probably benign Het
Zfp990 A T 4: 145,536,857 T142S probably damaging Het
Zfp990 C A 4: 145,536,858 T142N probably damaging Het
Other mutations in Lpxn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Lpxn APN 19 12833211 missense probably damaging 1.00
IGL03203:Lpxn APN 19 12819406 missense probably benign 0.01
mascherano UTSW 19 12833172 missense probably damaging 0.99
R0848:Lpxn UTSW 19 12804037 missense probably benign
R1514:Lpxn UTSW 19 12824050 missense probably damaging 1.00
R1532:Lpxn UTSW 19 12804092 critical splice donor site probably null
R1880:Lpxn UTSW 19 12804088 missense probably benign 0.17
R1937:Lpxn UTSW 19 12824910 missense probably benign 0.00
R2182:Lpxn UTSW 19 12832758 critical splice donor site probably null
R2897:Lpxn UTSW 19 12819358 missense probably benign 0.01
R4194:Lpxn UTSW 19 12833235 missense probably damaging 1.00
R4576:Lpxn UTSW 19 12833290 missense probably benign 0.17
R4844:Lpxn UTSW 19 12833172 missense probably damaging 0.99
R5567:Lpxn UTSW 19 12832659 missense possibly damaging 0.90
R5570:Lpxn UTSW 19 12832659 missense possibly damaging 0.90
R6060:Lpxn UTSW 19 12833125 missense probably damaging 1.00
R6366:Lpxn UTSW 19 12824799 missense probably benign 0.12
R6615:Lpxn UTSW 19 12824799 missense probably benign 0.12
R7116:Lpxn UTSW 19 12811258 missense probably benign 0.28
R7135:Lpxn UTSW 19 12833319 missense probably damaging 1.00
R7808:Lpxn UTSW 19 12824821 missense possibly damaging 0.55
R8290:Lpxn UTSW 19 12832688 missense probably damaging 1.00
Z1176:Lpxn UTSW 19 12824947 missense probably damaging 1.00
Posted On2014-05-07