Incidental Mutation 'R3697:Lemd3'
| ID |
269863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lemd3
|
| Ensembl Gene |
ENSMUSG00000048661 |
| Gene Name |
LEM domain containing 3 |
| Synonyms |
Man1 |
| MMRRC Submission |
040691-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3697 (G1)
|
| Quality Score |
102 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
120759318-120815237 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CCCTCCTCCTCCTCCTCCTCC to CCCTCCTCCTCCTCCTCC
at 120814432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119093]
[ENSMUST00000119944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119093
|
| SMART Domains |
Protein: ENSMUSP00000112661
Gene: ENSMUSG00000048661
| 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 benign
Transcript: ENSMUST00000119944
|
| SMART Domains |
Protein: ENSMUSP00000113103
Gene: ENSMUSG00000048661
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175289
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,366,157 (GRCm39) |
D805G |
probably benign |
Het |
| Cnmd |
C |
A |
14: 79,875,421 (GRCm39) |
R333L |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,518,958 (GRCm39) |
I79N |
unknown |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Gls |
C |
T |
1: 52,238,923 (GRCm39) |
M364I |
possibly damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,736 (GRCm39) |
|
noncoding transcript |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,953,551 (GRCm39) |
T233A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Miga1 |
T |
C |
3: 152,028,073 (GRCm39) |
N152S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,688,320 (GRCm39) |
G83S |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,647,469 (GRCm39) |
F728L |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Nop56 |
C |
A |
2: 130,119,507 (GRCm39) |
N57K |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,165,646 (GRCm39) |
N197S |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 91,935,481 (GRCm39) |
C244S |
probably damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Rtp3 |
T |
A |
9: 110,816,262 (GRCm39) |
R96S |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,534,876 (GRCm39) |
K316* |
probably null |
Het |
| Sp6 |
C |
A |
11: 96,912,580 (GRCm39) |
P98T |
possibly damaging |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,321 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vmn1r216 |
G |
A |
13: 23,283,849 (GRCm39) |
W177* |
probably null |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TCATTCATCGCGAGTGCTCC -3'
(R):5'- AAAGTGCTGCTGGGCTTCAG -3'
Sequencing Primer
(F):5'- CCCCTCCCTGAACCGAAGTC -3'
(R):5'- TTCAGCTCGGACGAGTCG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation