Mutagenetix > Incidental Mutation

Incidental Mutation 'R2090:Lsp1'

273632

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

040095-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142014583-142048605 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 142045544 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] [ENSMUST00000140626] [ENSMUST00000149521]

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: ENSMUST00000128986

Predicted Effect

probably benign
Transcript: ENSMUST00000140626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151580

Predicted Effect

probably benign
Transcript: ENSMUST00000149521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142408

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,391,456 (GRCm39)		probably null	Het
Adcy7	A	T	8: 89,042,485 (GRCm39)	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,766,558 (GRCm39)	T410S	possibly damaging	Het
Alg11	G	T	8: 22,555,646 (GRCm39)	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,445,905 (GRCm39)	V310A	possibly damaging	Het
Atg16l2	C	T	7: 100,942,575 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,786,291 (GRCm39)	V299A	probably benign	Het
Birc6	A	G	17: 74,969,791 (GRCm39)	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,271,321 (GRCm39)	K196E	probably benign	Het
Calhm6	A	G	10: 34,002,358 (GRCm39)	S242P	probably damaging	Het
Cdr2l	A	G	11: 115,281,827 (GRCm39)	K111E	probably damaging	Het
Crtam	T	C	9: 40,895,612 (GRCm39)	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,160,493 (GRCm39)	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,824,400 (GRCm39)	Y571*	probably null	Het
Defa39	A	T	8: 22,192,805 (GRCm39)	W64R	possibly damaging	Het
Dpy19l4	T	C	4: 11,304,344 (GRCm39)	Y99C	probably benign	Het
Edem3	C	T	1: 151,680,577 (GRCm39)		probably benign	Het
Enpp6	A	T	8: 47,518,405 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,824 (GRCm39)	D254E	probably benign	Het
Gjb5	T	C	4: 127,249,794 (GRCm39)	N117D	probably benign	Het
Glmn	G	A	5: 107,709,794 (GRCm39)	L337F	probably damaging	Het
Gsdmc2	T	A	15: 63,698,675 (GRCm39)	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,738,631 (GRCm39)	M144L	probably benign	Het
Ibtk	A	G	9: 85,603,046 (GRCm39)	I653T	probably benign	Het
Il24	T	G	1: 130,812,574 (GRCm39)	D99A	possibly damaging	Het
Intu	A	G	3: 40,637,966 (GRCm39)	Q484R	probably benign	Het
Iqca1l	A	G	5: 24,755,674 (GRCm39)	S283P	probably benign	Het
Mad1l1	A	G	5: 139,995,011 (GRCm39)	S672P	probably benign	Het
Man2a2	A	T	7: 80,013,858 (GRCm39)		probably benign	Het
Morc3	C	A	16: 93,663,341 (GRCm39)	H515N	probably benign	Het
Nav1	T	C	1: 135,534,903 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,230 (GRCm39)	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,636,818 (GRCm39)	F494L	probably benign	Het
Nr1d1	G	A	11: 98,661,436 (GRCm39)	P277S	probably damaging	Het
Nrg2	T	C	18: 36,151,496 (GRCm39)	D682G	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Oasl1	G	A	5: 115,073,993 (GRCm39)	D301N	probably damaging	Het
Or10ag56	A	T	2: 87,139,762 (GRCm39)	I230F	probably benign	Het
Or14a258	A	T	7: 86,035,289 (GRCm39)	I193N	probably benign	Het
Or5h26	A	G	16: 58,988,503 (GRCm39)	M1T	probably null	Het
Palmd	A	G	3: 116,721,083 (GRCm39)	S123P	probably damaging	Het
Patj	A	G	4: 98,325,560 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,655 (GRCm39)	D162G	probably benign	Het
Plppr5	A	G	3: 117,369,520 (GRCm39)	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,369,189 (GRCm39)	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,728,901 (GRCm39)	T363A	probably benign	Het
Poll	A	T	19: 45,547,277 (GRCm39)	I65N	probably benign	Het
Prox1	T	A	1: 189,893,009 (GRCm39)	S479C	probably damaging	Het
Prss50	A	T	9: 110,691,361 (GRCm39)	S222C	probably damaging	Het
Rasa3	A	C	8: 13,632,381 (GRCm39)		probably benign	Het
Sec14l3	T	C	11: 4,025,481 (GRCm39)	V335A	probably benign	Het
Setbp1	C	T	18: 78,899,935 (GRCm39)	S1244N	probably benign	Het
Sgcg	A	T	14: 61,483,213 (GRCm39)	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,400,695 (GRCm39)	I176F	probably benign	Het
Smc6	A	G	12: 11,339,987 (GRCm39)	T432A	probably benign	Het
Snx25	G	A	8: 46,509,150 (GRCm39)	P478L	probably damaging	Het
Taf2	A	T	15: 54,879,882 (GRCm39)	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,749,673 (GRCm39)	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,361,976 (GRCm39)	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,766,361 (GRCm39)	Y410H	probably damaging	Het
Vav3	T	C	3: 109,555,055 (GRCm39)		probably null	Het
Vmn1r224	T	C	17: 20,639,524 (GRCm39)	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458 (GRCm39)	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,644,834 (GRCm39)	D240G	probably benign	Het
Zfp963	A	T	8: 70,195,996 (GRCm39)	C152*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAACTGATCTGTGTCTGTCCG -3'
(R):5'- TCACTGGCTGAGTCCCATAG -3'

Sequencing Primer
(F):5'- CGATAGGCTCTTCTTAGCAGCTAG -3'
(R):5'- TGGCTGAGTCCCATAGAGACC -3'

Posted On

2015-03-30