Incidental Mutation 'IGL02351:Lsp1'
ID289498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsp1
Ensembl Gene ENSMUSG00000018819
Gene Namelymphocyte specific 1
Synonymspp52, leukocyte specific protein 1, WP34, lymphocyte-specific protein 1, leukocyte-specific protein 1, Lsp-1, p50
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02351
Quality Score
Status
Chromosome7
Chromosomal Location142460809-142494867 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 142488942 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018963] [ENSMUST00000018963] [ENSMUST00000038946] [ENSMUST00000038946] [ENSMUST00000105966] [ENSMUST00000105967] [ENSMUST00000105968] [ENSMUST00000105968] [ENSMUST00000140626] [ENSMUST00000140626] [ENSMUST00000149521]
Predicted Effect probably null
Transcript: ENSMUST00000018963
SMART Domains Protein: ENSMUSP00000018963
Gene: ENSMUSG00000018819

DomainStartEndE-ValueType
coiled coil region 29 53 N/A INTRINSIC
Pfam:Caldesmon 173 303 2.3e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000018963
SMART Domains Protein: ENSMUSP00000018963
Gene: ENSMUSG00000018819

DomainStartEndE-ValueType
coiled coil region 29 53 N/A INTRINSIC
Pfam:Caldesmon 173 303 2.3e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000038946
SMART Domains Protein: ENSMUSP00000040637
Gene: ENSMUSG00000018819

DomainStartEndE-ValueType
coiled coil region 27 51 N/A INTRINSIC
Pfam:Caldesmon 171 301 2.3e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000038946
SMART Domains Protein: ENSMUSP00000040637
Gene: ENSMUSG00000018819

DomainStartEndE-ValueType
coiled coil region 27 51 N/A INTRINSIC
Pfam:Caldesmon 171 301 2.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000054910
SMART Domains Protein: ENSMUSP00000061994
Gene: ENSMUSG00000043795

DomainStartEndE-ValueType
Pfam:DUF4643 6 259 1.3e-108 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105966
SMART Domains Protein: ENSMUSP00000101586
Gene: ENSMUSG00000018819

DomainStartEndE-ValueType
coiled coil region 27 51 N/A INTRINSIC
Pfam:Caldesmon 166 294 6.4e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105967
SMART Domains Protein: ENSMUSP00000101587
Gene: ENSMUSG00000018819

DomainStartEndE-ValueType
coiled coil region 29 53 N/A INTRINSIC
Pfam:Caldesmon 168 296 6.7e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105968
SMART Domains Protein: ENSMUSP00000101588
Gene: ENSMUSG00000018819

DomainStartEndE-ValueType
coiled coil region 29 53 N/A INTRINSIC
Pfam:Caldesmon 173 280 9.3e-29 PFAM
low complexity region 291 307 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105968
SMART Domains Protein: ENSMUSP00000101588
Gene: ENSMUSG00000018819

DomainStartEndE-ValueType
coiled coil region 29 53 N/A INTRINSIC
Pfam:Caldesmon 173 280 9.3e-29 PFAM
low complexity region 291 307 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132956
Predicted Effect probably null
Transcript: ENSMUST00000140626
Predicted Effect probably null
Transcript: ENSMUST00000140626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142408
Predicted Effect probably null
Transcript: ENSMUST00000149521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151580
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 an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased numbers of resident peritoneal macrophages and reduced numbers of peritoneal lymphocytes. Mutant neutrophils show abnormal morphology and impaired chemokine-induced migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyb5r3 T C 15: 83,160,935 T94A probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Skap1 T A 11: 96,708,556 probably null Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I probably benign Het
Other mutations in Lsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02358:Lsp1 APN 7 142488942 critical splice donor site probably null
IGL02624:Lsp1 APN 7 142490551 splice site probably benign
R0594:Lsp1 UTSW 7 142488950 splice site probably benign
R0603:Lsp1 UTSW 7 142489378 missense probably damaging 1.00
R2055:Lsp1 UTSW 7 142489407 critical splice donor site probably null
R2090:Lsp1 UTSW 7 142491807 intron probably benign
R3911:Lsp1 UTSW 7 142486361 missense probably damaging 0.98
R5965:Lsp1 UTSW 7 142490424 critical splice donor site probably null
R7186:Lsp1 UTSW 7 142490352 missense probably damaging 1.00
R7216:Lsp1 UTSW 7 142488442 missense probably damaging 1.00
Posted On2015-04-16