Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03265:Lpp'

415043

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

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

24393507-24992578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24761987 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 151 (Y151C)

Ref Sequence

ENSEMBL: ENSMUSP00000110969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038053] [ENSMUST00000078988] [ENSMUST00000115314]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038053
AA Change: Y276C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: Y276C

Domain	Start	End	E-Value	Type
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: Y276C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: Y276C

Domain	Start	End	E-Value	Type
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: Y151C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: Y151C

Domain	Start	End	E-Value	Type
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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,047,991	D4777E	probably benign	Het
Abca8a	C	A	11: 110,053,103	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,637,817	M286T	probably benign	Het
Anapc1	T	C	2: 128,627,197	S1575G	probably damaging	Het
Apba2	A	G	7: 64,695,323	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,849,628	F1641S	probably benign	Het
Atad2b	T	A	12: 5,024,628	H1062Q	probably benign	Het
Bivm	A	G	1: 44,141,845	R396G	probably damaging	Het
Bmi1	T	A	2: 18,681,861	M17K	possibly damaging	Het
Bptf	T	C	11: 107,054,628	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,952,286	E944G	probably damaging	Het
Ces2a	C	T	8: 104,737,443	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,528,848	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,185,718	E91D	probably benign	Het
Dus2	C	A	8: 106,033,791		probably benign	Het
Epha6	T	C	16: 60,060,231		probably benign	Het
Erap1	A	T	13: 74,664,127	T354S	probably damaging	Het
Fbxo11	T	C	17: 87,992,831	H851R	probably damaging	Het
Gm20532	G	A	2: 26,632,684	C90Y	unknown	Het
Gpr21	T	C	2: 37,518,074	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,259,939		probably benign	Het
Hephl1	G	A	9: 15,060,959	T895I	probably benign	Het
Hey1	T	C	3: 8,664,914	Y161C	probably benign	Het
Kdr	A	G	5: 75,960,773	Y526H	probably damaging	Het
Macc1	A	G	12: 119,446,976	N493S	probably benign	Het
Olfr1022	T	A	2: 85,869,150	M186K	possibly damaging	Het
Olfr1101	T	A	2: 86,989,080	Y32F	probably damaging	Het
Olfr315	T	C	11: 58,778,871	V248A	probably damaging	Het
Olfr605	C	A	7: 103,442,448	R225L	probably benign	Het
Olfr786	A	T	10: 129,436,925	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,515,153	D445G	probably damaging	Het
Prkra	T	C	2: 76,640,270	N123D	probably benign	Het
Slc25a33	A	C	4: 149,762,436	L56R	probably damaging	Het
Usp36	A	G	11: 118,264,809	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,754,473	L188*	probably null	Het
Vmn2r12	A	G	5: 109,092,070	V209A	probably benign	Het
Zfp809	A	G	9: 22,243,043	Y352C	probably benign	Het

Other mutations in Lpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Lpp	APN	16	24845188	missense	probably damaging	1.00
IGL01354:Lpp	APN	16	24762066	nonsense	probably null
IGL02141:Lpp	APN	16	24761615	missense	probably damaging	0.98
IGL02182:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02230:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02232:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02234:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02236:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02371:Lpp	APN	16	24761611	missense	probably damaging	0.96
PIT4585001:Lpp	UTSW	16	24761947	missense	probably benign	0.23
R0047:Lpp	UTSW	16	24661800	splice site	probably benign
R0047:Lpp	UTSW	16	24661800	splice site	probably benign
R0092:Lpp	UTSW	16	24761602	missense	probably benign	0.01
R0385:Lpp	UTSW	16	24761837	missense	probably damaging	1.00
R0389:Lpp	UTSW	16	24608241	missense	probably damaging	1.00
R0504:Lpp	UTSW	16	24971970	missense	probably damaging	1.00
R0798:Lpp	UTSW	16	24971872	nonsense	probably null
R1199:Lpp	UTSW	16	24681860	missense	probably damaging	1.00
R1581:Lpp	UTSW	16	24681841	nonsense	probably null
R1755:Lpp	UTSW	16	24845124	missense	probably benign
R1848:Lpp	UTSW	16	24761655	missense	probably damaging	1.00
R1980:Lpp	UTSW	16	24661701	missense	probably damaging	1.00
R3432:Lpp	UTSW	16	24889886	missense	probably benign	0.04
R3755:Lpp	UTSW	16	24845161	missense	probably benign	0.00
R4078:Lpp	UTSW	16	24681861	missense	probably damaging	1.00
R4214:Lpp	UTSW	16	24762054	nonsense	probably null
R4712:Lpp	UTSW	16	24761657	missense	possibly damaging	0.94
R4806:Lpp	UTSW	16	24661680	missense	probably damaging	0.97
R4968:Lpp	UTSW	16	24979314	missense	probably damaging	1.00
R5047:Lpp	UTSW	16	24971846	missense	probably damaging	1.00
R5371:Lpp	UTSW	16	24889804	missense	probably damaging	1.00
R5536:Lpp	UTSW	16	24845206	missense	possibly damaging	0.54
R5875:Lpp	UTSW	16	24608309	missense	probably benign	0.10
R7285:Lpp	UTSW	16	24977279	missense	probably damaging	1.00
R7587:Lpp	UTSW	16	24762279	splice site	probably null
R7846:Lpp	UTSW	16	24608126	start codon destroyed	probably null	0.98
Z1176:Lpp	UTSW	16	24761603	missense	probably benign	0.00
Z1177:Lpp	UTSW	16	24661712	missense	probably damaging	1.00

Posted On

2016-08-02