Incidental Mutation 'R0037:Lemd3'
| ID |
15541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lemd3
|
| Ensembl Gene |
ENSMUSG00000048661 |
| Gene Name |
LEM domain containing 3 |
| Synonyms |
Man1 |
| MMRRC Submission |
038331-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0037 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
120759318-120815237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 120761361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 898
(H898Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000119093
AA Change: H920Q
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112661
Gene: ENSMUSG00000048661
AA Change: H920Q
| 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 |
possibly damaging
Transcript: ENSMUST00000119944
AA Change: H898Q
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113103
Gene: ENSMUSG00000048661
AA Change: H898Q
| 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 |
|
| Meta Mutation Damage Score |
0.0919 |
| Coding Region Coverage |
- 1x: 81.5%
- 3x: 73.9%
- 10x: 52.8%
- 20x: 32.9%
|
| Validation Efficiency |
94% (83/88) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
A |
8: 111,769,891 (GRCm39) |
R330Q |
possibly damaging |
Het |
| Amph |
A |
T |
13: 19,284,823 (GRCm39) |
S250C |
possibly damaging |
Het |
| Ankrd61 |
T |
C |
5: 143,831,795 (GRCm39) |
N3S |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,209,630 (GRCm39) |
E621K |
probably damaging |
Het |
| Cpt2 |
A |
G |
4: 107,765,171 (GRCm39) |
S152P |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,967,248 (GRCm39) |
Q3205L |
probably damaging |
Het |
| Dag1 |
G |
T |
9: 108,084,552 (GRCm39) |
P863Q |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,163,480 (GRCm39) |
I191V |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,847,967 (GRCm39) |
L567P |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,750 (GRCm39) |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,347,658 (GRCm39) |
E104G |
probably damaging |
Het |
| Foxp1 |
T |
A |
6: 99,139,930 (GRCm39) |
Q17L |
probably damaging |
Het |
| Fscn1 |
A |
G |
5: 142,956,449 (GRCm39) |
|
probably benign |
Het |
| Fut8 |
T |
C |
12: 77,411,811 (GRCm39) |
V91A |
probably benign |
Het |
| Gm5475 |
T |
A |
15: 100,322,083 (GRCm39) |
Y77* |
probably null |
Het |
| Gm5800 |
T |
C |
14: 51,953,605 (GRCm39) |
|
probably benign |
Het |
| Hs2st1 |
T |
A |
3: 144,143,405 (GRCm39) |
K213* |
probably null |
Het |
| Il5ra |
T |
A |
6: 106,719,647 (GRCm39) |
Y62F |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,635,851 (GRCm39) |
E734G |
probably damaging |
Het |
| Insig2 |
A |
T |
1: 121,234,649 (GRCm39) |
C194S |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,301,548 (GRCm39) |
T43A |
probably benign |
Het |
| Mast3 |
C |
T |
8: 71,236,343 (GRCm39) |
|
probably null |
Het |
| Melk |
T |
C |
4: 44,360,864 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
C |
T |
15: 25,666,618 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
G |
A |
8: 95,216,163 (GRCm39) |
V967M |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,647 (GRCm39) |
F295I |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,843,999 (GRCm39) |
D1653E |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,827 (GRCm39) |
L449Q |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,599,129 (GRCm39) |
I367N |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,279,331 (GRCm39) |
L139S |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,052,692 (GRCm39) |
V658A |
probably damaging |
Het |
| Son |
C |
A |
16: 91,461,616 (GRCm39) |
A347E |
probably damaging |
Het |
| Tprg1l |
C |
A |
4: 154,244,594 (GRCm39) |
V134L |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,484 (GRCm39) |
N733I |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,773,934 (GRCm39) |
F1488L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,634,266 (GRCm39) |
D810G |
probably benign |
Het |
| Zfp473 |
T |
A |
7: 44,383,324 (GRCm39) |
K335N |
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 |
|
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 |
2012-12-21 |
Incidental Mutation