Incidental Mutation 'R5316:Lemd3'
ID |
405835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lemd3
|
Ensembl Gene |
ENSMUSG00000048661 |
Gene Name |
LEM domain containing 3 |
Synonyms |
Man1 |
MMRRC Submission |
042899-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5316 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
120759318-120815237 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
C to A
at 120788161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119093]
[ENSMUST00000119093]
[ENSMUST00000119944]
[ENSMUST00000119944]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
Agap2 |
G |
A |
10: 126,918,296 (GRCm39) |
|
probably null |
Het |
Apol10a |
A |
G |
15: 77,372,729 (GRCm39) |
T122A |
probably damaging |
Het |
Arhgap17 |
G |
T |
7: 122,895,750 (GRCm39) |
A458D |
possibly damaging |
Het |
Cd80 |
C |
T |
16: 38,294,239 (GRCm39) |
Q41* |
probably null |
Het |
Cmss1 |
T |
G |
16: 57,122,638 (GRCm39) |
K252T |
probably damaging |
Het |
Cog2 |
A |
G |
8: 125,255,779 (GRCm39) |
D122G |
probably benign |
Het |
Dsc3 |
T |
A |
18: 20,096,598 (GRCm39) |
D841V |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,262,929 (GRCm39) |
Q4549K |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,967,286 (GRCm39) |
I5275M |
possibly damaging |
Het |
Epha6 |
A |
G |
16: 59,775,083 (GRCm39) |
L711P |
probably damaging |
Het |
Gabrg2 |
T |
A |
11: 41,867,385 (GRCm39) |
N78I |
probably damaging |
Het |
H1f1 |
C |
T |
13: 23,948,085 (GRCm39) |
|
probably benign |
Het |
Htra3 |
T |
C |
5: 35,821,420 (GRCm39) |
D319G |
probably damaging |
Het |
Jph1 |
T |
C |
1: 17,161,750 (GRCm39) |
Y304C |
probably damaging |
Het |
Kat2a |
G |
T |
11: 100,602,996 (GRCm39) |
Q79K |
possibly damaging |
Het |
Klhl7 |
C |
T |
5: 24,332,748 (GRCm39) |
A102V |
probably benign |
Het |
Lamb3 |
A |
G |
1: 193,012,501 (GRCm39) |
H426R |
probably benign |
Het |
Mcm3ap |
A |
C |
10: 76,306,760 (GRCm39) |
D291A |
possibly damaging |
Het |
Micos13 |
G |
A |
17: 56,916,649 (GRCm39) |
S7L |
possibly damaging |
Het |
Mme |
C |
G |
3: 63,276,375 (GRCm39) |
F717L |
probably damaging |
Het |
Mybpc2 |
T |
A |
7: 44,169,806 (GRCm39) |
K171* |
probably null |
Het |
Naip6 |
T |
C |
13: 100,420,290 (GRCm39) |
N1327D |
probably benign |
Het |
Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,981 (GRCm39) |
V198D |
possibly damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Ppef2 |
A |
T |
5: 92,383,670 (GRCm39) |
M480K |
probably benign |
Het |
Prkar2b |
A |
T |
12: 32,110,984 (GRCm39) |
L33Q |
probably damaging |
Het |
Ralgps2 |
A |
T |
1: 156,641,067 (GRCm39) |
V496E |
probably damaging |
Het |
Rbms2 |
G |
A |
10: 127,981,606 (GRCm39) |
P81L |
probably damaging |
Het |
Scara5 |
T |
C |
14: 65,927,264 (GRCm39) |
S54P |
possibly damaging |
Het |
Slc18a3 |
T |
C |
14: 32,184,814 (GRCm39) |
D523G |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Srrt |
C |
A |
5: 137,294,813 (GRCm39) |
A747S |
probably benign |
Het |
Sycp2 |
C |
T |
2: 177,998,296 (GRCm39) |
D1075N |
probably benign |
Het |
Tasor |
A |
G |
14: 27,193,992 (GRCm39) |
D1064G |
possibly damaging |
Het |
Vat1l |
G |
A |
8: 115,011,088 (GRCm39) |
V279I |
probably damaging |
Het |
Zfp677 |
A |
G |
17: 21,617,410 (GRCm39) |
K156E |
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 |
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 |
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'- TCAGGAGCAGCTCTACATCAGAC -3'
(R):5'- TAACCCTGGCTTTCAGTTGTG -3'
Sequencing Primer
(F):5'- GGAGCAGCTCTACATCAGACATAATG -3'
(R):5'- CTTTCAGTTGTGATGGCGAAAACC -3'
|
Posted On |
2016-07-22 |