Mutagenetix > Incidental Mutation

Incidental Mutation 'R9710:Lasp1'

730092

Institutional Source

Beutler Lab

Gene Symbol

Lasp1

Ensembl Gene

ENSMUSG00000038366

Gene Name

LIM and SH3 protein 1

Synonyms

SH3P6, Def-4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R9710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97689826-97729590 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 97697593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043843] [ENSMUST00000127033] [ENSMUST00000129558] [ENSMUST00000129828] [ENSMUST00000134428] [ENSMUST00000136723] [ENSMUST00000138919] [ENSMUST00000143571] [ENSMUST00000146572] [ENSMUST00000148280] [ENSMUST00000152962] [ENSMUST00000153520]

AlphaFold

Q61792

Predicted Effect

probably benign
Transcript: ENSMUST00000043843

SMART Domains

Protein: ENSMUSP00000042123
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
LIM	4	56	4.34e-15	SMART
NEBU	62	92	1.1e-8	SMART
NEBU	98	128	1.05e-9	SMART
low complexity region	174	180	N/A	INTRINSIC
SH3	207	263	8.11e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127033

SMART Domains

Protein: ENSMUSP00000127792
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	2e-7	BLAST
Pfam:Nebulin	31	59	1.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129558

SMART Domains

Protein: ENSMUSP00000123165
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	4e-7	BLAST
NEBU	26	56	1.1e-8	SMART
NEBU	62	92	1.05e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129828

SMART Domains

Protein: ENSMUSP00000115308
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	4e-7	BLAST
NEBU	26	56	1.1e-8	SMART
NEBU	62	92	1.05e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134428

Predicted Effect

probably benign
Transcript: ENSMUST00000136723

SMART Domains

Protein: ENSMUSP00000114306
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	2e-7	BLAST
Pfam:Nebulin	31	59	1.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138919

Predicted Effect

probably benign
Transcript: ENSMUST00000143571

Predicted Effect

probably benign
Transcript: ENSMUST00000146572

SMART Domains

Protein: ENSMUSP00000121907
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	3e-7	BLAST
Pfam:Nebulin	31	59	2.1e-12	PFAM
Pfam:Nebulin	67	89	1.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148280

SMART Domains

Protein: ENSMUSP00000123050
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	2e-7	BLAST
NEBU	26	56	1.1e-8	SMART
NEBU	62	92	1.05e-9	SMART
low complexity region	138	144	N/A	INTRINSIC
SCOP:d1awj__	155	186	7e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152962

SMART Domains

Protein: ENSMUSP00000120645
Gene: ENSMUSG00000038366

Domain	Start	End	E-Value	Type
Blast:LIM	1	20	4e-7	BLAST
NEBU	26	56	1.1e-8	SMART
NEBU	62	92	1.05e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153520

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced histamine-stimulated gastric acid secretion and enlarged heart and testes on a mixed background. Mice homozygous for a transgene insertion exhibit abnormal tail vertebrae with scoliosis, transient spina bifida occulta, and a bent tail. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,946,852 (GRCm39)	S250P	probably benign	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Alpk2	T	A	18: 65,482,646 (GRCm39)	E454V	probably damaging	Het
Ank3	A	T	10: 69,829,070 (GRCm39)	T2580S		Het
Anks1	G	A	17: 28,128,571 (GRCm39)	G46R	possibly damaging	Het
Arhgap45	A	G	10: 79,857,635 (GRCm39)	E322G	probably damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
C1qtnf4	T	C	2: 90,720,351 (GRCm39)	I208T	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Cacna1a	G	T	8: 85,320,808 (GRCm39)	V1589F	possibly damaging	Het
Cacnb1	T	C	11: 97,902,197 (GRCm39)	H205R	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
Ccdc9b	G	T	2: 118,591,077 (GRCm39)	A152E	probably benign	Het
Clvs2	C	A	10: 33,389,307 (GRCm39)	R311L	probably benign	Het
Crim1	G	T	17: 78,610,504 (GRCm39)	G320*	probably null	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Cwc27	G	A	13: 104,943,158 (GRCm39)	T128I	probably damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
D930020B18Rik	A	C	10: 121,503,563 (GRCm39)	E246A	probably benign	Het
Dsg1c	T	A	18: 20,410,044 (GRCm39)	V504E	probably benign	Het
Enpp6	T	A	8: 47,518,948 (GRCm39)	S239T	probably damaging	Het
Eri2	A	T	7: 119,384,824 (GRCm39)	I559N	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Ghdc	A	G	11: 100,658,863 (GRCm39)	V423A	probably benign	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm266	A	T	12: 111,451,763 (GRCm39)	C148S	probably benign	Het
Gnas	C	T	2: 174,141,132 (GRCm39)	T493M	unknown	Het
Hivep2	T	C	10: 14,015,203 (GRCm39)	I1790T	probably damaging	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Isy1	A	G	6: 87,796,574 (GRCm39)	F239L	possibly damaging	Het
Itgb5	A	G	16: 33,685,917 (GRCm39)	T86A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Krt28	T	C	11: 99,255,921 (GRCm39)	E446G	probably damaging	Het
Lama1	A	T	17: 68,129,404 (GRCm39)	Q3071L		Het
Lmf2	T	C	15: 89,237,419 (GRCm39)	K348E	probably benign	Het
Lrch3	G	T	16: 32,796,108 (GRCm39)	E331*	probably null	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map7d1	C	A	4: 126,127,440 (GRCm39)		probably null	Het
Marchf8	C	T	6: 116,378,405 (GRCm39)	T113I	possibly damaging	Het
Mgrn1	A	T	16: 4,745,740 (GRCm39)	K423*	probably null	Het
Muc20	G	A	16: 32,615,266 (GRCm39)	T37I	possibly damaging	Het
Myh15	A	G	16: 48,959,044 (GRCm39)	E972G	probably damaging	Het
Myocd	T	A	11: 65,087,167 (GRCm39)	K253N	probably damaging	Het
Myod1	T	G	7: 46,026,575 (GRCm39)	L160R	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Nat8f2	A	T	6: 85,844,683 (GRCm39)	Y226*	probably null	Het
Nsmf	A	G	2: 24,949,077 (GRCm39)	K277R	probably null	Het
Nsrp1	C	T	11: 76,967,503 (GRCm39)	G30R	probably damaging	Het
Nsun6	C	A	2: 15,003,009 (GRCm39)	R389L	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or51h1	A	G	7: 102,308,441 (GRCm39)	T138A	probably damaging	Het
Or5w20	G	A	2: 87,726,902 (GRCm39)	D120N	probably damaging	Het
Pgm1	T	C	4: 99,843,918 (GRCm39)	L567P	probably damaging	Het
Polrmt	G	T	10: 79,576,535 (GRCm39)	H474N	probably benign	Het
Ppfia2	A	G	10: 106,664,885 (GRCm39)	I374V	probably benign	Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Prpf4b	T	A	13: 35,083,870 (GRCm39)	Y880N	probably damaging	Het
Ptpn3	G	A	4: 57,249,957 (GRCm39)	Q180*	probably null	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Rnaseh2a	T	C	8: 85,684,638 (GRCm39)	T241A	probably damaging	Het
Rnf148	T	A	6: 23,654,802 (GRCm39)	I65F	possibly damaging	Het
Rnf213	A	G	11: 119,331,831 (GRCm39)	I2348V		Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Ryr3	A	C	2: 112,633,534 (GRCm39)	V2093G	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Sh2d3c	C	T	2: 32,635,889 (GRCm39)	R238*	probably null	Het
Slc23a4	T	C	6: 34,923,235 (GRCm39)	K543R	probably benign	Het
Smn1	A	T	13: 100,272,210 (GRCm39)	N278I	possibly damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Sptlc2	A	T	12: 87,359,533 (GRCm39)	I501N	probably benign	Het
Srf	T	C	17: 46,866,271 (GRCm39)	T162A	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Stim1	CAGCGCCTGACGGAGC	CAGC	7: 102,080,118 (GRCm39)		probably benign	Het
Taar8a	T	C	10: 23,952,714 (GRCm39)	L106P	probably damaging	Het
Tcte1	A	G	17: 45,850,798 (GRCm39)	H358R	possibly damaging	Het
Tmem205	A	G	9: 21,837,587 (GRCm39)	S20P	probably damaging	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Trf	T	A	9: 103,103,217 (GRCm39)	I149F	probably damaging	Het
Trmt2a	C	T	16: 18,070,041 (GRCm39)	Q419*	probably null	Het
Ttc19	A	G	11: 62,203,997 (GRCm39)	I319M	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Ubr3	T	C	2: 69,727,957 (GRCm39)	F107L	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Wdr7	T	A	18: 63,927,317 (GRCm39)	M989K	possibly damaging	Het
Zcchc3	A	G	2: 152,256,385 (GRCm39)	S105P	probably benign	Het
Zfp735	T	A	11: 73,601,806 (GRCm39)	V250E	possibly damaging	Het

Other mutations in Lasp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Lasp1	APN	11	97,727,016 (GRCm39)	missense	probably damaging	1.00
R0281:Lasp1	UTSW	11	97,697,677 (GRCm39)	nonsense	probably null
R2126:Lasp1	UTSW	11	97,726,960 (GRCm39)	missense	probably benign	0.34
R3906:Lasp1	UTSW	11	97,690,653 (GRCm39)	missense	probably damaging	1.00
R3908:Lasp1	UTSW	11	97,690,653 (GRCm39)	missense	probably damaging	1.00
R3909:Lasp1	UTSW	11	97,690,653 (GRCm39)	missense	probably damaging	1.00
R4908:Lasp1	UTSW	11	97,724,530 (GRCm39)	critical splice donor site	probably null
R5239:Lasp1	UTSW	11	97,690,686 (GRCm39)	missense	probably damaging	1.00
R6519:Lasp1	UTSW	11	97,706,383 (GRCm39)	splice site	probably null
R6576:Lasp1	UTSW	11	97,724,402 (GRCm39)	missense	probably damaging	1.00
R6629:Lasp1	UTSW	11	97,697,722 (GRCm39)	nonsense	probably null
R7001:Lasp1	UTSW	11	97,697,659 (GRCm39)	missense	probably damaging	1.00
R8063:Lasp1	UTSW	11	97,724,957 (GRCm39)	missense	probably benign	0.00
R8708:Lasp1	UTSW	11	97,697,709 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TGAGGCTCATCCAGTTCTGG -3'
(R):5'- GTTGTGTCCCCAAAACTCAC -3'

Sequencing Primer
(F):5'- ACCTTTCTGGGGGCTGCTAC -3'
(R):5'- ACGCATTGCAGTAAGGCTTC -3'

Posted On

2022-10-06