Incidental Mutation 'R4319:Lemd2'
| ID |
324145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lemd2
|
| Ensembl Gene |
ENSMUSG00000044857 |
| Gene Name |
LEM domain containing 2 |
| Synonyms |
NET25, Lem2 |
| MMRRC Submission |
041660-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
27408574-27423443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27420651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 254
(M254T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055117]
|
| AlphaFold |
Q6DVA0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055117
AA Change: M254T
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058221
Gene: ENSMUSG00000044857
AA Change: M254T
| Domain | Start | End | E-Value | Type |
|---|
|
LEM
|
1 |
42 |
2.19e-16 |
SMART |
|
low complexity region
|
65 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
183 |
N/A |
INTRINSIC |
|
transmembrane domain
|
221 |
239 |
N/A |
INTRINSIC |
|
Pfam:MSC
|
251 |
503 |
7.3e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180434
|
| Meta Mutation Damage Score |
0.0820 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
94% (31/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]
PHENOTYPE: Homozygotes for a gene-trapped allele die by E11.5 exhibiting reduced embryo size and cell density in neural tissue and mesenchyme, underdeveloped cardiac and neural tissue, and hyperactivation of MAPK and AKT signaling. Heterozygotes show a modest delayin cardiotoxin-induced muscle regeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cacna1c |
A |
C |
6: 118,631,330 (GRCm39) |
I1148S |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,374,909 (GRCm39) |
H1385P |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,555,798 (GRCm39) |
H545R |
probably damaging |
Het |
| Dgkb |
A |
G |
12: 38,488,598 (GRCm39) |
I655V |
probably damaging |
Het |
| Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,033 (GRCm39) |
V84A |
probably damaging |
Het |
| Klf2 |
A |
G |
8: 73,074,005 (GRCm39) |
T270A |
probably benign |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,946 (GRCm39) |
E71G |
probably damaging |
Het |
| Mcoln2 |
G |
A |
3: 145,855,766 (GRCm39) |
|
probably null |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pygb |
G |
T |
2: 150,657,534 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spty2d1 |
T |
C |
7: 46,647,883 (GRCm39) |
S349G |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,358,578 (GRCm39) |
V657D |
probably damaging |
Het |
| Tspo2 |
G |
T |
17: 48,756,871 (GRCm39) |
|
probably benign |
Het |
| Ufsp2 |
A |
G |
8: 46,448,664 (GRCm39) |
T422A |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Wdr46 |
A |
G |
17: 34,159,718 (GRCm39) |
T3A |
probably benign |
Het |
|
| Other mutations in Lemd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01791:Lemd2
|
APN |
17 |
27,409,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02161:Lemd2
|
APN |
17 |
27,409,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02903:Lemd2
|
APN |
17 |
27,412,184 (GRCm39) |
splice site |
probably benign |
|
|
R0078:Lemd2
|
UTSW |
17 |
27,422,702 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0458:Lemd2
|
UTSW |
17 |
27,409,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1396:Lemd2
|
UTSW |
17 |
27,409,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Lemd2
|
UTSW |
17 |
27,420,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Lemd2
|
UTSW |
17 |
27,412,806 (GRCm39) |
splice site |
probably null |
|
|
R5172:Lemd2
|
UTSW |
17 |
27,414,356 (GRCm39) |
nonsense |
probably null |
|
|
R5239:Lemd2
|
UTSW |
17 |
27,422,773 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6005:Lemd2
|
UTSW |
17 |
27,409,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6196:Lemd2
|
UTSW |
17 |
27,411,976 (GRCm39) |
nonsense |
probably null |
|
|
R6621:Lemd2
|
UTSW |
17 |
27,414,366 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7208:Lemd2
|
UTSW |
17 |
27,415,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Lemd2
|
UTSW |
17 |
27,412,810 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7558:Lemd2
|
UTSW |
17 |
27,423,137 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9054:Lemd2
|
UTSW |
17 |
27,423,069 (GRCm39) |
missense |
probably benign |
|
|
R9309:Lemd2
|
UTSW |
17 |
27,411,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAACATGATGTGATTCCGG -3'
(R):5'- GCTGGTTCATGTACAGCTGG -3'
Sequencing Primer
(F):5'- TGAGTCCTCAGGAAGACT -3'
(R):5'- TTCATGTACAGCTGGAAAGAGGCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation