Mutagenetix > Incidental Mutation

Incidental Mutation 'R0603:Lsp1'

55550

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

038792-MU

Accession Numbers

Essential gene?

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

Stock #

R0603 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

142014583-142048605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142043115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 221 (R221H)

Ref Sequence

ENSEMBL: ENSMUSP00000101588 (fasta)

Gene Model

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

AlphaFold

P19973

Predicted Effect

probably damaging
Transcript: ENSMUST00000018963
AA Change: R221H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018963
Gene: ENSMUSG00000018819
AA Change: R221H

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 damaging
Transcript: ENSMUST00000038946
AA Change: R219H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040637
Gene: ENSMUSG00000018819
AA Change: R219H

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 damaging
Transcript: ENSMUST00000105966
AA Change: R213H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101586
Gene: ENSMUSG00000018819
AA Change: R213H

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 damaging
Transcript: ENSMUST00000105967
AA Change: R215H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101587
Gene: ENSMUSG00000018819
AA Change: R215H

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 damaging
Transcript: ENSMUST00000105968
AA Change: R221H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101588
Gene: ENSMUSG00000018819
AA Change: R221H

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: ENSMUST00000151580

Predicted Effect

probably benign
Transcript: ENSMUST00000149521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156960

Predicted Effect

probably benign
Transcript: ENSMUST00000140626

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc7	A	G	5: 122,578,233 (GRCm39)	N406S	probably benign	Het
Arhgap4	C	T	X: 72,950,389 (GRCm39)	R54Q	probably damaging	Het
Asb15	T	A	6: 24,556,556 (GRCm39)	I17N	probably damaging	Het
Atp8a1	T	C	5: 67,914,039 (GRCm39)		probably null	Het
Caprin1	A	G	2: 103,627,146 (GRCm39)	V47A	probably benign	Het
Col4a2	T	C	8: 11,464,779 (GRCm39)	V348A	probably benign	Het
Disp2	A	G	2: 118,622,487 (GRCm39)	K1073R	probably damaging	Het
Dmxl2	G	A	9: 54,313,190 (GRCm39)	H1686Y	possibly damaging	Het
Dzank1	C	T	2: 144,353,432 (GRCm39)	V152I	probably benign	Het
Elp1	A	T	4: 56,792,105 (GRCm39)	I221N	possibly damaging	Het
Evl	T	A	12: 108,614,681 (GRCm39)	I25N	probably damaging	Het
Fam117a	A	G	11: 95,271,699 (GRCm39)	K424E	probably damaging	Het
Gm17732	C	T	18: 62,795,823 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,820,480 (GRCm39)	I659T	possibly damaging	Het
Hectd4	T	A	5: 121,442,400 (GRCm39)	V1280E	possibly damaging	Het
Irs4	T	C	X: 140,508,071 (GRCm39)	T42A	probably damaging	Het
Kdm4a	C	T	4: 117,999,708 (GRCm39)	V905I	probably damaging	Het
Lmtk3	T	A	7: 45,444,980 (GRCm39)		probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mmut	A	T	17: 41,258,057 (GRCm39)	I408F	probably damaging	Het
Nckap1	A	T	2: 80,343,073 (GRCm39)	V942E	probably benign	Het
Neto1	T	A	18: 86,491,785 (GRCm39)	C229S	possibly damaging	Het
Nipal2	A	G	15: 34,650,544 (GRCm39)	I63T	probably damaging	Het
Or11g2	T	C	14: 50,855,967 (GRCm39)	I96T	probably damaging	Het
Or1af1	G	A	2: 37,110,118 (GRCm39)	V206I	probably damaging	Het
Or4k49	A	T	2: 111,495,225 (GRCm39)	Y218F	probably damaging	Het
Or7e165	A	T	9: 19,695,235 (GRCm39)	R269W	probably damaging	Het
Or8g36	C	A	9: 39,422,810 (GRCm39)	V69F	possibly damaging	Het
Pgpep1	T	C	8: 71,103,283 (GRCm39)	E120G	probably benign	Het
Pkhd1	A	T	1: 20,187,397 (GRCm39)	M3637K	probably benign	Het
Pkm	T	C	9: 59,573,164 (GRCm39)	V58A	probably damaging	Het
Ppp2r1b	C	A	9: 50,772,985 (GRCm39)	T154K	probably damaging	Het
Rgs18	T	A	1: 144,631,818 (GRCm39)	D98V	possibly damaging	Het
Rsph6a	G	T	7: 18,799,886 (GRCm39)	A506S	possibly damaging	Het
Selenop	T	A	15: 3,305,183 (GRCm39)	V113E	probably damaging	Het
Slc6a11	G	A	6: 114,221,851 (GRCm39)	V514M	probably benign	Het
Srsf9	C	T	5: 115,470,696 (GRCm39)	S132L	probably damaging	Het
Tchh	G	A	3: 93,351,088 (GRCm39)	R176H	possibly damaging	Het
Tcp11	T	C	17: 28,286,784 (GRCm39)	N405S	probably damaging	Het
Tle1	A	C	4: 72,036,584 (GRCm39)	D760E	probably damaging	Het
Tmem178	A	G	17: 81,252,488 (GRCm39)	D124G	possibly damaging	Het
Trabd	G	A	15: 88,966,929 (GRCm39)	E118K	probably damaging	Het
Ttc39a	A	G	4: 109,283,499 (GRCm39)	D115G	probably damaging	Het
Uaca	T	A	9: 60,778,379 (GRCm39)	M920K	possibly damaging	Het
Uba2	A	T	7: 33,861,038 (GRCm39)	M5K	probably damaging	Het
Unc5c	C	T	3: 141,476,863 (GRCm39)	P343L	probably damaging	Het
Wdhd1	T	C	14: 47,501,043 (GRCm39)	D453G	probably damaging	Het
Wfdc8	A	G	2: 164,445,145 (GRCm39)	Y157H	probably damaging	Het
Zbbx	T	G	3: 74,985,757 (GRCm39)	K432Q	probably benign	Het
Zeb2	G	A	2: 44,907,438 (GRCm39)	T169M	probably benign	Het
Zfp956	A	G	6: 47,932,962 (GRCm39)	E79G	probably damaging	Het
Zzef1	G	A	11: 72,708,895 (GRCm39)	V165I	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
IGL02624:Lsp1	APN	7	142,044,288 (GRCm39)	splice site	probably benign
R0594:Lsp1	UTSW	7	142,042,687 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- ACTGGGAGATAGAACATGGACCTGC -3'
(R):5'- CATGCCTGCTGTGATGTAAGAGACC -3'

Sequencing Primer
(F):5'- AACATGGACCTGCTGTTGC -3'
(R):5'- CTAGGGTTTACGGAAGAGGC -3'

Posted On

2013-07-11