Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02903:Lemd2'

363715

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lemd2

Ensembl Gene

ENSMUSG00000044857

Gene Name

LEM domain containing 2

Synonyms

NET25, Lem2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02903

Quality Score

Status

Chromosome

Chromosomal Location

27408574-27423443 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 27412184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000058221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055117]

AlphaFold

Q6DVA0

Predicted Effect

probably benign
Transcript: ENSMUST00000055117

SMART Domains

Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857

Domain	Start	End	E-Value	Type
LEM	1	42	2.19e-16	SMART
low complexity region	65	86	N/A	INTRINSIC
low complexity region	91	112	N/A	INTRINSIC
low complexity region	172	183	N/A	INTRINSIC
transmembrane domain	221	239	N/A	INTRINSIC
Pfam:MSC	251	503	7.3e-21	PFAM

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 LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygotes for a gene-trapped allele die by E11.5 exhibiting reduced embryo size and cell density in neural tissue and mesenchyme, underdeveloped cardiac and neural tissue, and hyperactivation of MAPK and AKT signaling. Heterozygotes show a modest delayin cardiotoxin-induced muscle regeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	G	6: 116,397,296 (GRCm39)	N296T	probably damaging	Het
Anks6	C	T	4: 47,045,004 (GRCm39)	E301K	probably damaging	Het
Astn1	A	G	1: 158,516,120 (GRCm39)	S1237G	probably damaging	Het
Atf6	G	A	1: 170,627,283 (GRCm39)	P394S	probably benign	Het
Atp4a	G	A	7: 30,415,344 (GRCm39)	M321I	probably benign	Het
C4bp	G	A	1: 130,583,722 (GRCm39)	T82I	probably damaging	Het
Cask	A	T	X: 13,418,686 (GRCm39)		probably benign	Het
Cenpf	A	T	1: 189,379,073 (GRCm39)	S2906T	probably damaging	Het
Cfl1	T	C	19: 5,542,828 (GRCm39)	F103L	probably benign	Het
Chrnb3	A	T	8: 27,876,834 (GRCm39)	T83S	probably damaging	Het
Cmtr2	A	G	8: 110,949,510 (GRCm39)	T607A	probably benign	Het
Cplane1	G	T	15: 8,299,262 (GRCm39)	R3150M	unknown	Het
Cplane1	G	T	15: 8,299,263 (GRCm39)	R3150S	unknown	Het
Cts7	A	T	13: 61,504,440 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,307 (GRCm39)	Y514N	possibly damaging	Het
Dmrtc1b	T	A	X: 101,757,173 (GRCm39)	L206Q	probably benign	Het
Dus3l	C	T	17: 57,075,363 (GRCm39)	L397F	probably damaging	Het
Gm6356	C	T	14: 6,973,735 (GRCm38)	G27E	probably damaging	Het
Hkdc1	C	T	10: 62,235,970 (GRCm39)		probably null	Het
Jkampl	A	G	6: 73,446,103 (GRCm39)	Y149H	probably damaging	Het
Kcmf1	A	T	6: 72,835,866 (GRCm39)	V21E	possibly damaging	Het
Kcnh4	T	A	11: 100,648,480 (GRCm39)	T75S	possibly damaging	Het
Magee1	G	T	X: 104,166,945 (GRCm39)	R910L	probably damaging	Het
Mcm3ap	T	C	10: 76,307,092 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	A	10: 39,823,639 (GRCm39)	E207V	possibly damaging	Het
Or2ag15	A	G	7: 106,340,917 (GRCm39)	S75P	probably damaging	Het
Or7a38	A	G	10: 78,753,250 (GRCm39)	D192G	probably damaging	Het
Pappa	T	C	4: 65,180,217 (GRCm39)	V1026A	probably damaging	Het
Paxip1	A	G	5: 27,953,870 (GRCm39)	L942P	probably damaging	Het
Ppp1r12b	A	T	1: 134,883,387 (GRCm39)	L45Q	probably benign	Het
Pramel23	A	T	4: 143,425,736 (GRCm39)	M69K	probably benign	Het
Ptprq	T	C	10: 107,502,447 (GRCm39)	T824A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,861 (GRCm39)	T574A	probably benign	Het
Rsbn1	T	C	3: 103,835,885 (GRCm39)	S308P	probably damaging	Het
Shisal2b	T	A	13: 105,000,118 (GRCm39)	Y35F	probably benign	Het
Smr2	A	T	5: 88,256,489 (GRCm39)	I56F	probably benign	Het
Wdfy4	C	T	14: 32,831,607 (GRCm39)	R873H	probably damaging	Het

Other mutations in Lemd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01791:Lemd2	APN	17	27,409,702 (GRCm39)	missense	probably damaging	1.00
IGL02161:Lemd2	APN	17	27,409,625 (GRCm39)	missense	probably damaging	1.00
R0078:Lemd2	UTSW	17	27,422,702 (GRCm39)	missense	probably benign	0.17
R0458:Lemd2	UTSW	17	27,409,627 (GRCm39)	missense	probably damaging	0.99
R1396:Lemd2	UTSW	17	27,409,706 (GRCm39)	missense	probably damaging	1.00
R3106:Lemd2	UTSW	17	27,420,644 (GRCm39)	missense	probably damaging	1.00
R4319:Lemd2	UTSW	17	27,420,651 (GRCm39)	missense	possibly damaging	0.87
R4930:Lemd2	UTSW	17	27,412,806 (GRCm39)	splice site	probably null
R5172:Lemd2	UTSW	17	27,414,356 (GRCm39)	nonsense	probably null
R5239:Lemd2	UTSW	17	27,422,773 (GRCm39)	missense	possibly damaging	0.53
R6005:Lemd2	UTSW	17	27,409,759 (GRCm39)	missense	probably damaging	1.00
R6196:Lemd2	UTSW	17	27,411,976 (GRCm39)	nonsense	probably null
R6621:Lemd2	UTSW	17	27,414,366 (GRCm39)	missense	probably benign	0.01
R7208:Lemd2	UTSW	17	27,415,165 (GRCm39)	missense	probably damaging	1.00
R7552:Lemd2	UTSW	17	27,412,810 (GRCm39)	critical splice donor site	probably null
R7558:Lemd2	UTSW	17	27,423,137 (GRCm39)	missense	probably benign	0.04
R9054:Lemd2	UTSW	17	27,423,069 (GRCm39)	missense	probably benign
R9309:Lemd2	UTSW	17	27,411,936 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18