Incidental Mutation 'IGL01296:Lasp1'
ID 73125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lasp1
Ensembl Gene ENSMUSG00000038366
Gene Name LIM and SH3 protein 1
Synonyms SH3P6, Def-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL01296
Quality Score
Status
Chromosome 11
Chromosomal Location 97689826-97729590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97727016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 246 (V246A)
Ref Sequence ENSEMBL: ENSMUSP00000042123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043843] [ENSMUST00000054783] [ENSMUST00000129558] [ENSMUST00000129828] [ENSMUST00000146572] [ENSMUST00000148280] [ENSMUST00000152962]
AlphaFold Q61792
Predicted Effect probably damaging
Transcript: ENSMUST00000043843
AA Change: V246A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042123
Gene: ENSMUSG00000038366
AA Change: V246A

DomainStartEndE-ValueType
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: ENSMUST00000054783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127575
Predicted Effect probably benign
Transcript: ENSMUST00000129558
SMART Domains Protein: ENSMUSP00000123165
Gene: ENSMUSG00000038366

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000146572
SMART Domains Protein: ENSMUSP00000121907
Gene: ENSMUSG00000038366

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:LIM 1 20 4e-7 BLAST
NEBU 26 56 1.1e-8 SMART
NEBU 62 92 1.05e-9 SMART
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,880,864 (GRCm39) S301P probably damaging Het
Adam34 A G 8: 44,104,178 (GRCm39) V489A possibly damaging Het
Adcy8 G A 15: 64,655,628 (GRCm39) T617I probably damaging Het
Aggf1 T C 13: 95,490,479 (GRCm39) D605G probably damaging Het
Atp10a T A 7: 58,463,373 (GRCm39) F969I probably benign Het
Becn1 A T 11: 101,182,277 (GRCm39) N97K probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Crtac1 A T 19: 42,272,652 (GRCm39) C578S probably damaging Het
Dcp1b A G 6: 119,192,319 (GRCm39) K412E probably damaging Het
Dlg2 T A 7: 91,589,267 (GRCm39) I327N probably damaging Het
Ehf T A 2: 103,098,500 (GRCm39) probably null Het
Elavl4 T C 4: 110,063,809 (GRCm39) N264S probably benign Het
Enpp2 A T 15: 54,739,065 (GRCm39) I406N probably damaging Het
F10 A T 8: 13,105,383 (GRCm39) Y316F possibly damaging Het
Fam20a A G 11: 109,576,177 (GRCm39) I194T possibly damaging Het
Fcgbp T C 7: 27,789,072 (GRCm39) V546A probably benign Het
Fras1 A T 5: 96,821,557 (GRCm39) Q1438L probably null Het
Gm43638 T C 5: 87,608,451 (GRCm39) I463V probably benign Het
H2-T10 T C 17: 36,431,602 (GRCm39) D84G probably benign Het
Itpr1 T C 6: 108,376,322 (GRCm39) F1262L probably damaging Het
Lama1 A G 17: 68,052,046 (GRCm39) N335D probably benign Het
Lrrk2 A T 15: 91,567,345 (GRCm39) I135L probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mctp2 T C 7: 71,878,274 (GRCm39) K268R probably benign Het
Nbea A T 3: 55,938,957 (GRCm39) H710Q probably benign Het
Notch3 G A 17: 32,385,731 (GRCm39) R13C unknown Het
Ogfod1 A T 8: 94,782,299 (GRCm39) probably benign Het
Or1j11 A G 2: 36,311,716 (GRCm39) Y102C probably benign Het
Or5b111 A G 19: 13,291,490 (GRCm39) L53P probably damaging Het
Or8d2 T C 9: 38,759,548 (GRCm39) I46T probably damaging Het
Pgm3 A G 9: 86,443,932 (GRCm39) V324A probably damaging Het
Ppfia2 A T 10: 106,694,068 (GRCm39) I681F probably damaging Het
Prss23 T C 7: 89,159,095 (GRCm39) K325E possibly damaging Het
Psmd7 T A 8: 108,313,249 (GRCm39) probably benign Het
Rfx2 T A 17: 57,115,317 (GRCm39) M1L possibly damaging Het
Rpa1 T C 11: 75,203,141 (GRCm39) Y418C probably damaging Het
Rps6kc1 C T 1: 190,505,875 (GRCm39) R1029H probably damaging Het
Septin10 A G 10: 59,002,422 (GRCm39) V391A probably benign Het
Skint6 A G 4: 113,093,637 (GRCm39) F169L probably benign Het
Slc44a4 C T 17: 35,140,674 (GRCm39) T289I probably benign Het
Spata31e5 T C 1: 28,816,137 (GRCm39) I632V probably benign Het
Srl T C 16: 4,315,546 (GRCm39) D32G probably damaging Het
Stxbp3-ps T A 19: 9,535,256 (GRCm39) noncoding transcript Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Tmprss7 A G 16: 45,504,937 (GRCm39) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm39) L84P probably damaging Het
Vmn2r98 T A 17: 19,285,447 (GRCm39) I89N probably damaging Het
Zcwpw1 G A 5: 137,795,061 (GRCm39) A86T probably benign Het
Zkscan16 A G 4: 58,956,690 (GRCm39) H324R possibly damaging Het
Other mutations in Lasp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9710:Lasp1 UTSW 11 97,697,593 (GRCm39) start gained probably benign
Posted On 2013-10-07