Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02624:Lsp1'

301010

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02624

Quality Score

Status

Chromosome

Chromosomal Location

142014583-142048605 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 142044288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018963] [ENSMUST00000038946] [ENSMUST00000105966] [ENSMUST00000105967] [ENSMUST00000105968] [ENSMUST00000149521] [ENSMUST00000140626]

AlphaFold

P19973

Predicted Effect

probably benign
Transcript: ENSMUST00000018963

SMART Domains

Protein: ENSMUSP00000018963
Gene: ENSMUSG00000018819

Domain	Start	End	E-Value	Type
coiled coil region	29	53	N/A	INTRINSIC
Pfam:Caldesmon	173	303	2.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038946

SMART Domains

Protein: ENSMUSP00000040637
Gene: ENSMUSG00000018819

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:DUF4643	6	259	1.3e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105966

SMART Domains

Protein: ENSMUSP00000101586
Gene: ENSMUSG00000018819

Domain	Start	End	E-Value	Type
coiled coil region	27	51	N/A	INTRINSIC
Pfam:Caldesmon	166	294	6.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105967

SMART Domains

Protein: ENSMUSP00000101587
Gene: ENSMUSG00000018819

Domain	Start	End	E-Value	Type
coiled coil region	29	53	N/A	INTRINSIC
Pfam:Caldesmon	168	296	6.7e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105968

SMART Domains

Protein: ENSMUSP00000101588
Gene: ENSMUSG00000018819

Domain	Start	End	E-Value	Type
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: ENSMUST00000142408

Predicted Effect

probably benign
Transcript: ENSMUST00000149521

Predicted Effect

probably benign
Transcript: ENSMUST00000140626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132956

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,032,004 (GRCm39)	V38A	unknown	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Brk1	T	G	6: 113,581,805 (GRCm39)	I22M	possibly damaging	Het
Cd3g	A	G	9: 44,885,459 (GRCm39)		probably null	Het
Cep192	T	C	18: 68,013,866 (GRCm39)	V2422A	probably benign	Het
Ces2g	T	C	8: 105,691,380 (GRCm39)	V172A	probably damaging	Het
Clcn2	G	T	16: 20,522,098 (GRCm39)	S830R	probably damaging	Het
Cyp26b1	T	C	6: 84,561,321 (GRCm39)	S114G	probably benign	Het
Dnali1	T	C	4: 124,952,791 (GRCm39)	Q244R	probably benign	Het
Entpd1	A	T	19: 40,714,502 (GRCm39)	K204*	probably null	Het
Gm5070	A	G	3: 95,318,219 (GRCm39)		noncoding transcript	Het
Gpsm2	G	T	3: 108,589,349 (GRCm39)	D596E	probably benign	Het
Hectd1	C	T	12: 51,809,233 (GRCm39)	A1743T	possibly damaging	Het
Kcnq5	T	G	1: 21,472,654 (GRCm39)	L845F	probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrp1	A	T	10: 127,408,291 (GRCm39)	I1795N	probably damaging	Het
Mcm6	C	T	1: 128,277,185 (GRCm39)	A213T	possibly damaging	Het
Mylk	G	T	16: 34,750,266 (GRCm39)	V1202L	probably benign	Het
Myo5b	T	C	18: 74,848,010 (GRCm39)	Y1083H	probably damaging	Het
Ncoa5	T	A	2: 164,854,981 (GRCm39)	D47V	probably damaging	Het
Npat	C	T	9: 53,478,110 (GRCm39)	T954I	probably damaging	Het
Or2b28	A	G	13: 21,531,682 (GRCm39)	T195A	probably benign	Het
Or5p1	A	T	7: 107,916,130 (GRCm39)	T10S	probably benign	Het
Pfkm	T	C	15: 98,024,276 (GRCm39)	I428T	probably benign	Het
Rai1	T	C	11: 60,079,569 (GRCm39)	F1211S	probably damaging	Het
Reln	T	C	5: 22,308,355 (GRCm39)	E338G	probably benign	Het
Tbx18	T	C	9: 87,609,459 (GRCm39)	Y192C	probably damaging	Het
Tex21	T	A	12: 76,261,398 (GRCm39)	D250V	probably damaging	Het
Tpo	A	G	12: 30,150,413 (GRCm39)	V489A	probably benign	Het
Tspo	T	C	15: 83,455,616 (GRCm39)	M1T	probably null	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnk2	C	T	13: 49,256,278 (GRCm39)	G281D	probably damaging	Het
Zfhx2	T	C	14: 55,304,085 (GRCm39)	T1300A	probably benign	Het

Other mutations in Lsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7216:Lsp1	UTSW	7	142,042,179 (GRCm39)	missense	probably damaging	1.00
R9665:Lsp1	UTSW	7	142,044,142 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16