Incidental Mutation 'R5713:Lmnb2'
| ID |
451000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmnb2
|
| Ensembl Gene |
ENSMUSG00000062075 |
| Gene Name |
lamin B2 |
| Synonyms |
lamin B3 |
| MMRRC Submission |
043335-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80737197-80754079 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80741921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 57
(V57M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057623]
[ENSMUST00000105332]
[ENSMUST00000179022]
|
| AlphaFold |
P21619 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057623
|
| SMART Domains |
Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
42 |
398 |
1.97e-47 |
SMART |
|
low complexity region
|
402 |
422 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
427 |
442 |
1.72e-5 |
PROSPERO |
|
low complexity region
|
444 |
458 |
N/A |
INTRINSIC |
|
Pfam:LTD
|
462 |
575 |
9.3e-16 |
PFAM |
|
low complexity region
|
579 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105332
AA Change: V57M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075
AA Change: V57M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament
|
77 |
257 |
1.2e-49 |
PFAM |
|
low complexity region
|
261 |
281 |
N/A |
INTRINSIC |
|
Pfam:LTD
|
317 |
435 |
6.7e-23 |
PFAM |
|
low complexity region
|
438 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179022
|
| SMART Domains |
Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament
|
23 |
379 |
8.9e-96 |
PFAM |
|
low complexity region
|
383 |
403 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
408 |
423 |
1.1e-5 |
PROSPERO |
|
Pfam:LTD
|
439 |
557 |
1.3e-23 |
PFAM |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal death with abnormal brain development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,889,414 (GRCm39) |
Y431* |
probably null |
Het |
| Abtb3 |
A |
T |
10: 85,487,516 (GRCm39) |
I995F |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,091 (GRCm39) |
R1515S |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,651 (GRCm39) |
V63A |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,682,928 (GRCm39) |
P473S |
probably damaging |
Het |
| Casp3 |
C |
A |
8: 47,089,349 (GRCm39) |
T199K |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,540,066 (GRCm39) |
C13Y |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,911,975 (GRCm39) |
S518P |
probably benign |
Het |
| Clic3 |
A |
T |
2: 25,348,179 (GRCm39) |
I109F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,916,049 (GRCm39) |
D2301V |
possibly damaging |
Het |
| Gm26627 |
A |
G |
6: 29,507,850 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
A |
T |
7: 104,471,000 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
A |
C |
2: 34,903,543 (GRCm39) |
I1037S |
probably damaging |
Het |
| Il2rb |
A |
G |
15: 78,376,048 (GRCm39) |
M1T |
probably null |
Het |
| Ing5 |
T |
A |
1: 93,740,452 (GRCm39) |
D124E |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,248,793 (GRCm39) |
E90G |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,836,949 (GRCm39) |
I522N |
probably benign |
Het |
| Lipa |
A |
T |
19: 34,500,832 (GRCm39) |
H71Q |
probably benign |
Het |
| Mllt3 |
A |
T |
4: 87,759,448 (GRCm39) |
M200K |
probably benign |
Het |
| Mtpap |
G |
A |
18: 4,396,280 (GRCm39) |
S524N |
probably benign |
Het |
| Mup21 |
C |
G |
4: 62,068,511 (GRCm39) |
E52Q |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,558 (GRCm39) |
F90L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,661,237 (GRCm39) |
D343G |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,219,870 (GRCm39) |
F237I |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,446,184 (GRCm39) |
I103T |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,114,813 (GRCm39) |
S430T |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,508,669 (GRCm39) |
N843D |
possibly damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,183 (GRCm39) |
M37K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,935,060 (GRCm39) |
I864V |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,435,910 (GRCm39) |
T130A |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rps29 |
C |
A |
12: 69,205,502 (GRCm39) |
R32L |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,851 (GRCm39) |
E226G |
probably damaging |
Het |
| Siglecg |
A |
T |
7: 43,058,226 (GRCm39) |
I38F |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,880,853 (GRCm39) |
M308L |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,266,283 (GRCm39) |
V631A |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,792,545 (GRCm39) |
*58W |
probably null |
Het |
| Trgc2 |
T |
A |
13: 19,491,515 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,293,515 (GRCm39) |
V203E |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,290 (GRCm39) |
L411P |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,597,476 (GRCm39) |
D42E |
probably benign |
Het |
|
| Other mutations in Lmnb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Lmnb2
|
APN |
10 |
80,739,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00908:Lmnb2
|
APN |
10 |
80,745,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01365:Lmnb2
|
APN |
10 |
80,740,818 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01598:Lmnb2
|
APN |
10 |
80,742,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0761:Lmnb2
|
UTSW |
10 |
80,742,088 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
|
R1143:Lmnb2
|
UTSW |
10 |
80,740,149 (GRCm39) |
unclassified |
probably benign |
|
|
R1324:Lmnb2
|
UTSW |
10 |
80,740,005 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1763:Lmnb2
|
UTSW |
10 |
80,743,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Lmnb2
|
UTSW |
10 |
80,740,226 (GRCm39) |
unclassified |
probably benign |
|
|
R5001:Lmnb2
|
UTSW |
10 |
80,753,946 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5053:Lmnb2
|
UTSW |
10 |
80,740,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Lmnb2
|
UTSW |
10 |
80,739,791 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5975:Lmnb2
|
UTSW |
10 |
80,740,962 (GRCm39) |
nonsense |
probably null |
|
|
R6314:Lmnb2
|
UTSW |
10 |
80,745,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6835:Lmnb2
|
UTSW |
10 |
80,745,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Lmnb2
|
UTSW |
10 |
80,740,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7776:Lmnb2
|
UTSW |
10 |
80,753,991 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8230:Lmnb2
|
UTSW |
10 |
80,740,982 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8728:Lmnb2
|
UTSW |
10 |
80,740,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9032:Lmnb2
|
UTSW |
10 |
80,740,091 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9063:Lmnb2
|
UTSW |
10 |
80,742,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9085:Lmnb2
|
UTSW |
10 |
80,740,091 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Lmnb2
|
UTSW |
10 |
80,739,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACTGACAGAGCCTTCTC -3'
(R):5'- CCCTTGACTGAAGTTTGAGAATAC -3'
Sequencing Primer
(F):5'- CAGCGTCCACAGGAGGATG -3'
(R):5'- ATACAAACCCATGGGGGA -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation