Incidental Mutation 'IGL02141:Lpp'
ID 281533
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpp
Ensembl Gene ENSMUSG00000033306
Gene Name LIM domain containing preferred translocation partner in lipoma
Synonyms B130055L10Rik, 9430020K16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # IGL02141
Quality Score
Status
Chromosome 16
Chromosomal Location 24212257-24811328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24580365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 27 (S27F)
Ref Sequence ENSEMBL: ENSMUSP00000110969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038053] [ENSMUST00000078988] [ENSMUST00000115314]
AlphaFold Q8BFW7
Predicted Effect probably damaging
Transcript: ENSMUST00000038053
AA Change: S152F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: S152F

DomainStartEndE-ValueType
low complexity region 41 55 N/A INTRINSIC
low complexity region 61 93 N/A INTRINSIC
coiled coil region 109 134 N/A INTRINSIC
low complexity region 174 197 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
LIM 416 469 1.03e-16 SMART
LIM 476 528 1.94e-12 SMART
LIM 536 597 2.5e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078988
AA Change: S152F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: S152F

DomainStartEndE-ValueType
low complexity region 41 55 N/A INTRINSIC
low complexity region 61 93 N/A INTRINSIC
coiled coil region 109 134 N/A INTRINSIC
low complexity region 174 197 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
LIM 416 469 1.03e-16 SMART
LIM 476 528 1.94e-12 SMART
LIM 536 597 2.5e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115314
AA Change: S27F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: S27F

DomainStartEndE-ValueType
low complexity region 49 72 N/A INTRINSIC
low complexity region 130 142 N/A INTRINSIC
low complexity region 246 261 N/A INTRINSIC
LIM 291 344 1.03e-16 SMART
LIM 351 403 1.94e-12 SMART
LIM 411 472 2.5e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231279
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 domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Gene disruption results in fertility problems involving females but not males. Migration and survival of MEFs are also abnormal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging Het
Other mutations in Lpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Lpp APN 16 24,663,938 (GRCm39) missense probably damaging 1.00
IGL01354:Lpp APN 16 24,580,816 (GRCm39) nonsense probably null
IGL02182:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02230:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02232:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02234:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02236:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02371:Lpp APN 16 24,580,361 (GRCm39) missense probably damaging 0.96
IGL03265:Lpp APN 16 24,580,737 (GRCm39) missense probably damaging 1.00
PIT4585001:Lpp UTSW 16 24,580,697 (GRCm39) missense probably benign 0.23
R0047:Lpp UTSW 16 24,480,550 (GRCm39) splice site probably benign
R0047:Lpp UTSW 16 24,480,550 (GRCm39) splice site probably benign
R0092:Lpp UTSW 16 24,580,352 (GRCm39) missense probably benign 0.01
R0385:Lpp UTSW 16 24,580,587 (GRCm39) missense probably damaging 1.00
R0389:Lpp UTSW 16 24,426,991 (GRCm39) missense probably damaging 1.00
R0504:Lpp UTSW 16 24,790,720 (GRCm39) missense probably damaging 1.00
R0798:Lpp UTSW 16 24,790,622 (GRCm39) nonsense probably null
R1199:Lpp UTSW 16 24,500,610 (GRCm39) missense probably damaging 1.00
R1581:Lpp UTSW 16 24,500,591 (GRCm39) nonsense probably null
R1755:Lpp UTSW 16 24,663,874 (GRCm39) missense probably benign
R1848:Lpp UTSW 16 24,580,405 (GRCm39) missense probably damaging 1.00
R1980:Lpp UTSW 16 24,480,451 (GRCm39) missense probably damaging 1.00
R3432:Lpp UTSW 16 24,708,636 (GRCm39) missense probably benign 0.04
R3755:Lpp UTSW 16 24,663,911 (GRCm39) missense probably benign 0.00
R4078:Lpp UTSW 16 24,500,611 (GRCm39) missense probably damaging 1.00
R4214:Lpp UTSW 16 24,580,804 (GRCm39) nonsense probably null
R4712:Lpp UTSW 16 24,580,407 (GRCm39) missense possibly damaging 0.94
R4806:Lpp UTSW 16 24,480,430 (GRCm39) missense probably damaging 0.97
R4968:Lpp UTSW 16 24,798,064 (GRCm39) missense probably damaging 1.00
R5047:Lpp UTSW 16 24,790,596 (GRCm39) missense probably damaging 1.00
R5371:Lpp UTSW 16 24,708,554 (GRCm39) missense probably damaging 1.00
R5536:Lpp UTSW 16 24,663,956 (GRCm39) missense possibly damaging 0.54
R5875:Lpp UTSW 16 24,427,059 (GRCm39) missense probably benign 0.10
R7285:Lpp UTSW 16 24,796,029 (GRCm39) missense probably damaging 1.00
R7587:Lpp UTSW 16 24,581,029 (GRCm39) splice site probably null
R7846:Lpp UTSW 16 24,426,876 (GRCm39) start codon destroyed probably null 0.98
R9065:Lpp UTSW 16 24,580,889 (GRCm39) missense probably benign 0.03
R9378:Lpp UTSW 16 24,540,737 (GRCm39) start codon destroyed probably benign 0.00
R9616:Lpp UTSW 16 24,580,719 (GRCm39) missense probably benign
Z1176:Lpp UTSW 16 24,580,353 (GRCm39) missense probably benign 0.00
Z1177:Lpp UTSW 16 24,480,462 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16