Incidental Mutation 'IGL01733:Lemd3'
| ID |
105563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lemd3
|
| Ensembl Gene |
ENSMUSG00000048661 |
| Gene Name |
LEM domain containing 3 |
| Synonyms |
Man1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
120759318-120815237 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 120769568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 588
(W588*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119093]
[ENSMUST00000119944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118291
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119093
AA Change: W610*
|
| SMART Domains |
Protein: ENSMUSP00000112661
Gene: ENSMUSG00000048661
AA Change: W610*
| Domain | Start | End | E-Value | Type |
|---|
|
LEM
|
8 |
51 |
1.01e-20 |
SMART |
|
low complexity region
|
66 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
|
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
|
Pfam:MSC
|
526 |
779 |
8.9e-25 |
PFAM |
|
PDB:4OZ1|B
|
812 |
919 |
2e-23 |
PDB |
|
SCOP:d1jmta_
|
813 |
894 |
6e-7 |
SMART |
|
Blast:RRM
|
814 |
893 |
4e-49 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119944
AA Change: W588*
|
| SMART Domains |
Protein: ENSMUSP00000113103
Gene: ENSMUSG00000048661
AA Change: W588*
| Domain | Start | End | E-Value | Type |
|---|
|
LEM
|
8 |
51 |
1.01e-20 |
SMART |
|
low complexity region
|
66 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
|
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
|
Pfam:MSC
|
518 |
758 |
5.7e-57 |
PFAM |
|
PDB:4OZ1|B
|
790 |
897 |
2e-23 |
PDB |
|
SCOP:d1jmta_
|
791 |
872 |
5e-7 |
SMART |
|
Blast:RRM
|
792 |
871 |
4e-49 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at midgestation, defects in vascular remodeling and increased apoptosis in embryos, particularly in mesenchymal tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
C |
T |
15: 91,075,817 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
G |
4: 40,175,738 (GRCm39) |
|
probably benign |
Het |
| Brinp3 |
T |
C |
1: 146,390,541 (GRCm39) |
V29A |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,709,071 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 22,157,869 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
A |
G |
8: 93,996,642 (GRCm39) |
I217T |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,586,454 (GRCm39) |
T1856S |
possibly damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,112 (GRCm39) |
V7F |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,861 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,436,899 (GRCm39) |
S949P |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,220,517 (GRCm39) |
R554W |
probably damaging |
Het |
| Fig4 |
A |
T |
10: 41,153,389 (GRCm39) |
N137K |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,183,956 (GRCm39) |
|
probably null |
Het |
| Grk6 |
A |
C |
13: 55,599,204 (GRCm39) |
N168T |
possibly damaging |
Het |
| Hfe |
T |
G |
13: 23,890,848 (GRCm39) |
K97T |
possibly damaging |
Het |
| Hsd3b2 |
C |
T |
3: 98,623,801 (GRCm39) |
E26K |
probably damaging |
Het |
| Impg1 |
A |
G |
9: 80,249,206 (GRCm39) |
S666P |
probably damaging |
Het |
| Itpkb |
T |
G |
1: 180,160,734 (GRCm39) |
S287A |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,011,966 (GRCm39) |
D651G |
probably benign |
Het |
| Lepr |
A |
G |
4: 101,622,279 (GRCm39) |
T404A |
probably benign |
Het |
| Metap1d |
A |
G |
2: 71,341,777 (GRCm39) |
I124V |
probably damaging |
Het |
| Mrpl33 |
T |
C |
5: 31,779,733 (GRCm39) |
V54A |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,755,935 (GRCm39) |
S205T |
possibly damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,155,622 (GRCm39) |
D877V |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,290,137 (GRCm39) |
V163A |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,856,488 (GRCm39) |
V606L |
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,209,173 (GRCm39) |
P192S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,498,460 (GRCm39) |
M872I |
probably benign |
Het |
| Ripor1 |
C |
T |
8: 106,342,378 (GRCm39) |
R150W |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,347,336 (GRCm39) |
V423E |
possibly damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Stoml3 |
A |
G |
3: 53,405,548 (GRCm39) |
I50V |
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,155 (GRCm39) |
I219T |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,195,862 (GRCm39) |
|
probably benign |
Het |
| Zfat |
T |
C |
15: 68,052,579 (GRCm39) |
D398G |
probably damaging |
Het |
|
| Other mutations in Lemd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01488:Lemd3
|
APN |
10 |
120,769,304 (GRCm39) |
nonsense |
probably null |
|
|
IGL02127:Lemd3
|
APN |
10 |
120,761,933 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02171:Lemd3
|
APN |
10 |
120,769,527 (GRCm39) |
splice site |
probably benign |
|
|
Culebra
|
UTSW |
10 |
120,769,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044_Lemd3_698
|
UTSW |
10 |
120,769,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0037:Lemd3
|
UTSW |
10 |
120,761,361 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0309:Lemd3
|
UTSW |
10 |
120,773,015 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0829:Lemd3
|
UTSW |
10 |
120,814,988 (GRCm39) |
missense |
probably benign |
|
|
R1171:Lemd3
|
UTSW |
10 |
120,785,246 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1382:Lemd3
|
UTSW |
10 |
120,767,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1954:Lemd3
|
UTSW |
10 |
120,814,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2044:Lemd3
|
UTSW |
10 |
120,769,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Lemd3
|
UTSW |
10 |
120,814,432 (GRCm39) |
small deletion |
probably benign |
|
|
R3118:Lemd3
|
UTSW |
10 |
120,783,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3697:Lemd3
|
UTSW |
10 |
120,814,432 (GRCm39) |
small deletion |
probably benign |
|
|
R3729:Lemd3
|
UTSW |
10 |
120,763,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Lemd3
|
UTSW |
10 |
120,761,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4429:Lemd3
|
UTSW |
10 |
120,813,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4830:Lemd3
|
UTSW |
10 |
120,767,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5316:Lemd3
|
UTSW |
10 |
120,788,161 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5355:Lemd3
|
UTSW |
10 |
120,769,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5404:Lemd3
|
UTSW |
10 |
120,767,863 (GRCm39) |
nonsense |
probably null |
|
|
R6754:Lemd3
|
UTSW |
10 |
120,769,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Lemd3
|
UTSW |
10 |
120,788,137 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7213:Lemd3
|
UTSW |
10 |
120,814,145 (GRCm39) |
nonsense |
probably null |
|
|
R7699:Lemd3
|
UTSW |
10 |
120,813,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7700:Lemd3
|
UTSW |
10 |
120,813,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7781:Lemd3
|
UTSW |
10 |
120,761,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Lemd3
|
UTSW |
10 |
120,767,728 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9031:Lemd3
|
UTSW |
10 |
120,767,878 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9274:Lemd3
|
UTSW |
10 |
120,814,717 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2014-01-21 |
Incidental Mutation