Incidental Mutation 'R1382:Lemd3'
ID |
163098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lemd3
|
Ensembl Gene |
ENSMUSG00000048661 |
Gene Name |
LEM domain containing 3 |
Synonyms |
Man1 |
MMRRC Submission |
039444-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1382 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
120759318-120815237 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120767641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 711
(I711K)
|
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 damaging
Transcript: ENSMUST00000119093
AA Change: I733K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112661 Gene: ENSMUSG00000048661 AA Change: I733K
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 damaging
Transcript: ENSMUST00000119944
AA Change: I711K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113103 Gene: ENSMUSG00000048661 AA Change: I711K
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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
C |
T |
15: 72,998,889 (GRCm39) |
C236Y |
probably benign |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Asap2 |
A |
G |
12: 21,315,955 (GRCm39) |
T916A |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,486,090 (GRCm39) |
V529A |
probably benign |
Het |
Cep192 |
G |
A |
18: 67,989,370 (GRCm39) |
R1839Q |
possibly damaging |
Het |
Cope |
A |
G |
8: 70,765,513 (GRCm39) |
N295S |
probably benign |
Het |
Crocc2 |
G |
A |
1: 93,144,815 (GRCm39) |
|
probably null |
Het |
Cuedc1 |
C |
T |
11: 88,068,189 (GRCm39) |
P146S |
probably benign |
Het |
Ddc |
T |
C |
11: 11,774,856 (GRCm39) |
D345G |
possibly damaging |
Het |
Dsg4 |
T |
A |
18: 20,598,181 (GRCm39) |
C700S |
probably benign |
Het |
Dst |
A |
T |
1: 34,307,914 (GRCm39) |
E6224D |
probably damaging |
Het |
Exo1 |
A |
G |
1: 175,721,362 (GRCm39) |
T334A |
probably damaging |
Het |
Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Lrrc8b |
A |
G |
5: 105,628,749 (GRCm39) |
D365G |
probably damaging |
Het |
Mdga2 |
A |
T |
12: 66,517,690 (GRCm39) |
I48K |
possibly damaging |
Het |
Or51q1c |
G |
T |
7: 103,652,927 (GRCm39) |
L148F |
probably benign |
Het |
Pate7 |
T |
A |
9: 35,689,390 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
A |
G |
17: 59,281,742 (GRCm39) |
V180A |
probably benign |
Het |
Phactr1 |
T |
C |
13: 43,286,451 (GRCm39) |
F584S |
probably damaging |
Het |
Ppan |
A |
G |
9: 20,803,214 (GRCm39) |
K429E |
probably benign |
Het |
Prkd3 |
A |
G |
17: 79,264,674 (GRCm39) |
V647A |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ptpru |
A |
G |
4: 131,535,540 (GRCm39) |
F407S |
probably damaging |
Het |
Rab3gap1 |
A |
T |
1: 127,870,333 (GRCm39) |
T985S |
probably damaging |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Tet2 |
C |
T |
3: 133,182,376 (GRCm39) |
G1196D |
probably damaging |
Het |
Tub |
G |
A |
7: 108,629,360 (GRCm39) |
V426I |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,856,471 (GRCm39) |
Y498C |
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 |
|
IGL01733:Lemd3
|
APN |
10 |
120,769,568 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTACTAGACTGAGAAGCCGTACC -3'
(R):5'- TAACGCCGACCCCAAATGTTGC -3'
Sequencing Primer
(F):5'- GCCGTACCTTGCAGAATATG -3'
(R):5'- GCTCTCCGGTACATGAGATAC -3'
|
Posted On |
2014-03-17 |