Incidental Mutation 'R1309:Lmnb1'
| ID |
157891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmnb1
|
| Ensembl Gene |
ENSMUSG00000024590 |
| Gene Name |
lamin B1 |
| Synonyms |
|
| MMRRC Submission |
039375-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1309 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
56840885-56886496 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CAGAGAGAGAGAGA to CAGAGAGAGAGA
at 56872976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025486]
|
| AlphaFold |
P14733 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025486
|
| SMART Domains |
Protein: ENSMUSP00000025486
Gene: ENSMUSG00000024590
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Angptl2 |
G |
A |
2: 33,136,140 (GRCm39) |
A442T |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,713,163 (GRCm39) |
I709V |
possibly damaging |
Het |
| Asb2 |
A |
G |
12: 103,291,667 (GRCm39) |
V372A |
probably benign |
Het |
| Ccm2l |
A |
T |
2: 152,912,844 (GRCm39) |
I129F |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,541,566 (GRCm39) |
I433F |
possibly damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,510,831 (GRCm39) |
|
probably null |
Het |
| Dhx37 |
C |
T |
5: 125,494,502 (GRCm39) |
W944* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,115,610 (GRCm39) |
L939P |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,288 (GRCm39) |
T216A |
possibly damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Prep |
A |
G |
10: 45,002,122 (GRCm39) |
T426A |
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,570,599 (GRCm39) |
|
probably null |
Het |
| Spag6 |
A |
G |
2: 18,739,027 (GRCm39) |
Y319C |
probably damaging |
Het |
| Stk24 |
A |
G |
14: 121,540,198 (GRCm39) |
Y134H |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,937,512 (GRCm39) |
I1179V |
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,125,400 (GRCm39) |
E274G |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,769,100 (GRCm39) |
F87Y |
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 |
|
R1308:Lmnb1
|
UTSW |
18 |
56,861,547 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- TAGCTGCCTTGTGCTCATGGTGAC -3'
(R):5'- GGGCTGTTCTTTACCTGAGTGAACC -3'
Sequencing Primer
(F):5'- CATGGTCCTAGAAAGTCAATGTGC -3'
(R):5'- GTGAACCAGAATCTTACTCTGATGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation