Incidental Mutation 'R1308:Lmnb1'
| ID |
157866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmnb1
|
| Ensembl Gene |
ENSMUSG00000024590 |
| Gene Name |
lamin B1 |
| Synonyms |
|
| MMRRC Submission |
039374-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1308 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
56840885-56886496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56861547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 146
(K146R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025486]
|
| AlphaFold |
P14733 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025486
AA Change: K146R
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025486
Gene: ENSMUSG00000024590
AA Change: K146R
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
32 |
388 |
2.59e-47 |
SMART |
|
low complexity region
|
392 |
414 |
N/A |
INTRINSIC |
|
Pfam:LTD
|
436 |
546 |
2.3e-18 |
PFAM |
|
low complexity region
|
551 |
570 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128651
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice display neonatal lethality with respiratory distress, abnormal lung, craniofacial, and skeletal morphology, reduced embryo size, impaired cellular proliferation and differentiation, and abnormal nuclear morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
| Cln6 |
A |
G |
9: 62,758,143 (GRCm39) |
T301A |
probably damaging |
Het |
| G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
| Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
| Jph1 |
A |
G |
1: 17,161,918 (GRCm39) |
I248T |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,026,564 (GRCm39) |
L230P |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
| Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
| Pate6 |
T |
C |
9: 35,700,385 (GRCm39) |
T67A |
probably benign |
Het |
| Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
| Pros1 |
G |
A |
16: 62,734,228 (GRCm39) |
D345N |
probably damaging |
Het |
| Prss47 |
T |
C |
13: 65,199,630 (GRCm39) |
H83R |
probably benign |
Het |
| R3hdml |
G |
T |
2: 163,344,319 (GRCm39) |
C236F |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Syt12 |
A |
T |
19: 4,510,763 (GRCm39) |
V37E |
probably damaging |
Het |
| Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,148,646 (GRCm39) |
T116A |
probably damaging |
Het |
|
| Other mutations in Lmnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01536:Lmnb1
|
APN |
18 |
56,873,868 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02139:Lmnb1
|
APN |
18 |
56,882,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
Katmai
|
UTSW |
18 |
56,876,348 (GRCm39) |
nonsense |
probably null |
|
|
R0446:Lmnb1
|
UTSW |
18 |
56,876,331 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0696:Lmnb1
|
UTSW |
18 |
56,873,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1309:Lmnb1
|
UTSW |
18 |
56,872,976 (GRCm39) |
frame shift |
probably null |
|
|
R1544:Lmnb1
|
UTSW |
18 |
56,882,823 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2680:Lmnb1
|
UTSW |
18 |
56,864,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Lmnb1
|
UTSW |
18 |
56,861,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3980:Lmnb1
|
UTSW |
18 |
56,864,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Lmnb1
|
UTSW |
18 |
56,873,858 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6025:Lmnb1
|
UTSW |
18 |
56,862,456 (GRCm39) |
nonsense |
probably null |
|
|
R6028:Lmnb1
|
UTSW |
18 |
56,876,348 (GRCm39) |
nonsense |
probably null |
|
|
R6346:Lmnb1
|
UTSW |
18 |
56,876,310 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6736:Lmnb1
|
UTSW |
18 |
56,861,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Lmnb1
|
UTSW |
18 |
56,841,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Lmnb1
|
UTSW |
18 |
56,876,331 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9453:Lmnb1
|
UTSW |
18 |
56,873,114 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF004:Lmnb1
|
UTSW |
18 |
56,864,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTACCCAGACTCTTGACCTGACG -3'
(R):5'- TAAGGCGCTACCTAGACTGCCTTC -3'
Sequencing Primer
(F):5'- TGGGTGATCCATCCCCAG -3'
(R):5'- AGATCCTCCAAGTCTCCCTCTA -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation