Incidental Mutation 'R7216:Lsp1'
ID 561470
Institutional Source Beutler Lab
Gene Symbol Lsp1
Ensembl Gene ENSMUSG00000018819
Gene Name lymphocyte specific 1
Synonyms WP34, leukocyte specific protein 1, pp52, leukocyte-specific protein 1, lymphocyte-specific protein 1, Lsp-1, p50
MMRRC Submission 045288-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7216 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 142014583-142048605 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142042179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 133 (L133S)
Ref Sequence ENSEMBL: ENSMUSP00000018963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018963] [ENSMUST00000038946] [ENSMUST00000105966] [ENSMUST00000105967] [ENSMUST00000105968] [ENSMUST00000140626] [ENSMUST00000149521]
AlphaFold P19973
Predicted Effect probably damaging
Transcript: ENSMUST00000018963
AA Change: L133S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018963
Gene: ENSMUSG00000018819
AA Change: L133S

DomainStartEndE-ValueType
coiled coil region 29 53 N/A INTRINSIC
Pfam:Caldesmon 173 303 2.3e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000038946
AA Change: L131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040637
Gene: ENSMUSG00000018819
AA Change: L131S

DomainStartEndE-ValueType
coiled coil region 27 51 N/A INTRINSIC
Pfam:Caldesmon 171 301 2.3e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105966
AA Change: L131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101586
Gene: ENSMUSG00000018819
AA Change: L131S

DomainStartEndE-ValueType
coiled coil region 27 51 N/A INTRINSIC
Pfam:Caldesmon 166 294 6.4e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105967
AA Change: L133S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101587
Gene: ENSMUSG00000018819
AA Change: L133S

DomainStartEndE-ValueType
coiled coil region 29 53 N/A INTRINSIC
Pfam:Caldesmon 168 296 6.7e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105968
AA Change: L133S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101588
Gene: ENSMUSG00000018819
AA Change: L133S

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 benign
Transcript: ENSMUST00000140626
Predicted Effect probably benign
Transcript: ENSMUST00000149521
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,240 (GRCm39) N1551K probably benign Het
Amy2a1 T C 3: 113,324,090 (GRCm39) D150G possibly damaging Het
Atp2b1 T A 10: 98,822,839 (GRCm39) C165S probably benign Het
Atp2c1 A T 9: 105,344,930 (GRCm39) D102E probably benign Het
Capn8 C A 1: 182,426,363 (GRCm39) R233S possibly damaging Het
Cd48 T C 1: 171,523,390 (GRCm39) S78P probably damaging Het
Clasp1 T A 1: 118,475,648 (GRCm39) D944E probably benign Het
Clip2 A G 5: 134,531,771 (GRCm39) M678T probably benign Het
Clmp T C 9: 40,672,205 (GRCm39) Y12H possibly damaging Het
Col22a1 A T 15: 71,845,694 (GRCm39) V356D probably damaging Het
Copg2 A T 6: 30,862,535 (GRCm39) D101E probably damaging Het
Cpsf6 G A 10: 117,197,928 (GRCm39) P229S unknown Het
Dgke T C 11: 88,941,163 (GRCm39) D340G probably benign Het
Dlg1 TAAA TAA 16: 31,615,736 (GRCm39) probably null Het
Dlg5 G A 14: 24,186,706 (GRCm39) Q1865* probably null Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Efcab3 A T 11: 104,771,375 (GRCm39) K2633N possibly damaging Het
Egln2 T C 7: 26,859,254 (GRCm39) D365G probably damaging Het
Epha4 T C 1: 77,421,621 (GRCm39) D287G probably damaging Het
Fat4 A G 3: 38,945,192 (GRCm39) T1362A probably damaging Het
Flt4 A G 11: 49,525,508 (GRCm39) T685A possibly damaging Het
Fras1 T C 5: 96,887,173 (GRCm39) Y2652H probably damaging Het
Gas2 A G 7: 51,547,005 (GRCm39) E52G possibly damaging Het
Gm5093 A T 17: 46,751,014 (GRCm39) D4E not run Het
Gm6370 A T 5: 146,430,723 (GRCm39) T303S probably benign Het
Gpr161 A G 1: 165,134,115 (GRCm39) I126V probably benign Het
Gpr63 T C 4: 25,008,038 (GRCm39) L254P probably damaging Het
H2-M9 C T 17: 36,951,594 (GRCm39) V294I probably benign Het
Insr T A 8: 3,253,034 (GRCm39) N375I possibly damaging Het
Ints1 T C 5: 139,754,739 (GRCm39) N600S possibly damaging Het
Ints10 A G 8: 69,274,809 (GRCm39) N628S probably damaging Het
Irf2 A G 8: 47,246,591 (GRCm39) T20A probably benign Het
Irs1 T A 1: 82,267,476 (GRCm39) T247S probably damaging Het
Islr C T 9: 58,064,250 (GRCm39) S419N unknown Het
Kcna2 T A 3: 107,012,109 (GRCm39) I230N probably damaging Het
Kif3c C A 12: 3,416,126 (GRCm39) A49E probably benign Het
Kifap3 A T 1: 163,623,558 (GRCm39) K108N probably damaging Het
Lama3 T A 18: 12,563,057 (GRCm39) F527I probably damaging Het
Layn A G 9: 50,988,352 (GRCm39) probably benign Het
Lims2 G T 18: 32,090,315 (GRCm39) W276L probably damaging Het
Map3k6 T G 4: 132,974,211 (GRCm39) V536G probably damaging Het
Med7 T A 11: 46,331,681 (GRCm39) L92H probably damaging Het
Mllt1 A G 17: 57,234,042 (GRCm39) V48A probably damaging Het
Mtcl2 T C 2: 156,860,290 (GRCm39) R1650G possibly damaging Het
Neurl4 T A 11: 69,801,088 (GRCm39) V1153E probably damaging Het
Nkx2-1 A C 12: 56,581,587 (GRCm39) C87G probably damaging Het
Nsun7 T C 5: 66,436,000 (GRCm39) S291P probably damaging Het
Or10n1 A T 9: 39,525,790 (GRCm39) Q309L probably benign Het
Or13a18 A T 7: 140,190,373 (GRCm39) N90I possibly damaging Het
Or1p1c A T 11: 74,160,550 (GRCm39) I112F probably damaging Het
Or4e1 G A 14: 52,700,945 (GRCm39) P174S probably damaging Het
Or7g17 T A 9: 18,768,632 (GRCm39) M237K probably benign Het
Pals1 G A 12: 78,844,006 (GRCm39) R70H probably damaging Het
Pbrm1 A G 14: 30,767,379 (GRCm39) Y331C possibly damaging Het
Pirb T A 7: 3,719,273 (GRCm39) T539S probably benign Het
Plch2 T G 4: 155,068,685 (GRCm39) T1314P probably benign Het
Polk T C 13: 96,644,728 (GRCm39) S133G probably benign Het
Pramel27 A G 4: 143,578,399 (GRCm39) I220V probably damaging Het
Prdm5 A T 6: 65,904,967 (GRCm39) K533* probably null Het
Prmt1 T A 7: 44,632,997 (GRCm39) Q35H probably benign Het
Pum3 A T 19: 27,401,625 (GRCm39) W142R probably damaging Het
Rest G A 5: 77,430,455 (GRCm39) R958H probably benign Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Ripor2 G A 13: 24,855,886 (GRCm39) G109R probably damaging Het
Sec62 C T 3: 30,872,978 (GRCm39) Q354* probably null Het
Snx14 T C 9: 88,263,844 (GRCm39) Y847C probably damaging Het
Sox7 A T 14: 64,185,438 (GRCm39) D158V probably benign Het
Spag8 A G 4: 43,652,034 (GRCm39) V350A possibly damaging Het
Syngr1 A T 15: 79,995,934 (GRCm39) I158F probably damaging Het
Tacstd2 C A 6: 67,511,979 (GRCm39) V238L probably benign Het
Tex15 T C 8: 34,063,014 (GRCm39) S815P possibly damaging Het
Tmem117 A T 15: 94,612,793 (GRCm39) T110S possibly damaging Het
Tnrc6a T C 7: 122,770,718 (GRCm39) I836T probably benign Het
Trim30b C A 7: 104,006,569 (GRCm39) V96L probably benign Het
Tssk3 TGCTATCATGGGG TG 4: 129,383,106 (GRCm39) probably null Het
Tyk2 G T 9: 21,031,822 (GRCm39) H418N probably benign Het
Uap1 G T 1: 169,986,472 (GRCm39) T170K probably damaging Het
Vmn1r40 T C 6: 89,691,606 (GRCm39) V141A not run Het
Vmn1r54 T A 6: 90,246,647 (GRCm39) I187K probably damaging Het
Vmp1 C T 11: 86,492,859 (GRCm39) V317M probably damaging Het
Wnt8b A G 19: 44,500,511 (GRCm39) K366R probably benign Het
Zfp207 C T 11: 80,286,004 (GRCm39) P415L unknown Het
Zfp263 A G 16: 3,562,435 (GRCm39) E66G probably damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp985 T A 4: 147,667,913 (GRCm39) H260Q probably damaging Het
Zmiz1 GCC GC 14: 25,576,624 (GRCm39) probably null Het
Zmiz1 A G 14: 25,576,633 (GRCm39) R47G probably damaging Het
Zmiz1 A C 14: 25,576,631 (GRCm39) Q46P probably damaging Het
Other mutations in Lsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02351:Lsp1 APN 7 142,042,679 (GRCm39) critical splice donor site probably null
IGL02358:Lsp1 APN 7 142,042,679 (GRCm39) critical splice donor site probably null
IGL02624:Lsp1 APN 7 142,044,288 (GRCm39) splice site probably benign
R0594:Lsp1 UTSW 7 142,042,687 (GRCm39) splice site probably benign
R0603:Lsp1 UTSW 7 142,043,115 (GRCm39) missense probably damaging 1.00
R2055:Lsp1 UTSW 7 142,043,144 (GRCm39) critical splice donor site probably null
R2090:Lsp1 UTSW 7 142,045,544 (GRCm39) intron probably benign
R3911:Lsp1 UTSW 7 142,040,098 (GRCm39) missense probably damaging 0.98
R5965:Lsp1 UTSW 7 142,044,161 (GRCm39) critical splice donor site probably null
R7186:Lsp1 UTSW 7 142,044,089 (GRCm39) missense probably damaging 1.00
R9665:Lsp1 UTSW 7 142,044,142 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTGCGGTCTTAAGAGCTCTG -3'
(R):5'- TCATGGAGGAGGAACTTGCC -3'

Sequencing Primer
(F):5'- CGGTCTTAAGAGCTCTGCATATTGAC -3'
(R):5'- CCCTCCAAAAATATGTCTTGGAAGG -3'
Posted On 2019-06-26