Incidental Mutation 'R3699:Lbr'
| ID |
269906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lbr
|
| Ensembl Gene |
ENSMUSG00000004880 |
| Gene Name |
lamin B receptor |
| Synonyms |
|
| MMRRC Submission |
040692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R3699 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
181642880-181669966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181646485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 479
(Y479C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005003]
[ENSMUST00000208001]
|
| AlphaFold |
Q3U9G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005003
AA Change: Y479C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005003
Gene: ENSMUSG00000004880
AA Change: Y479C
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
4 |
62 |
6.7e-9 |
SMART |
|
low complexity region
|
63 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
121 |
N/A |
INTRINSIC |
|
Pfam:ERG4_ERG24
|
194 |
626 |
4.6e-161 |
PFAM |
|
Pfam:DUF1295
|
452 |
617 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194415
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195458
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195808
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208001
|
| Meta Mutation Damage Score |
0.9580 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in abnormal skin and hair and impair growth. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(23) : Gene trapped(17) Spontaneous(6)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Atp1b2 |
G |
A |
11: 69,496,095 (GRCm39) |
T35I |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,831 (GRCm39) |
V751A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,118,238 (GRCm39) |
L1127I |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,950,797 (GRCm39) |
L292P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,252,155 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,603,984 (GRCm39) |
S58T |
unknown |
Het |
| Gucy2c |
A |
T |
6: 136,747,109 (GRCm39) |
C117S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,265,134 (GRCm39) |
Y291H |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,130,951 (GRCm39) |
S333R |
possibly damaging |
Het |
| Nampt |
T |
C |
12: 32,898,758 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
A |
G |
7: 6,517,993 (GRCm39) |
M145T |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,722,493 (GRCm39) |
R1400S |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Polq |
C |
A |
16: 36,862,518 (GRCm39) |
S338Y |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,536,922 (GRCm39) |
S470P |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,802 (GRCm39) |
|
probably benign |
Het |
| Rere |
A |
T |
4: 150,561,819 (GRCm39) |
|
probably null |
Het |
| Rps6kb1 |
A |
G |
11: 86,423,620 (GRCm39) |
F120S |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,405,195 (GRCm39) |
C78F |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Trpv4 |
A |
G |
5: 114,772,861 (GRCm39) |
S243P |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,379,649 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
G |
T |
18: 13,979,330 (GRCm39) |
S361* |
probably null |
Het |
| Zfyve19 |
A |
G |
2: 119,041,720 (GRCm39) |
T96A |
probably benign |
Het |
|
| Other mutations in Lbr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01585:Lbr
|
APN |
1 |
181,653,208 (GRCm39) |
nonsense |
probably null |
|
|
IGL01680:Lbr
|
APN |
1 |
181,663,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Lbr
|
APN |
1 |
181,659,778 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03048:Lbr
|
APN |
1 |
181,666,109 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03227:Lbr
|
APN |
1 |
181,663,620 (GRCm39) |
splice site |
probably null |
|
|
IGL03337:Lbr
|
APN |
1 |
181,659,788 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Aconcagua
|
UTSW |
1 |
181,656,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
kosciuszko
|
UTSW |
1 |
181,653,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
Mont_blanc
|
UTSW |
1 |
181,648,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
seven
|
UTSW |
1 |
181,659,778 (GRCm39) |
missense |
probably benign |
0.16 |
|
Strzelecki
|
UTSW |
1 |
181,644,571 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
thredbo
|
UTSW |
1 |
181,645,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Lbr
|
UTSW |
1 |
181,659,244 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
H8562:Lbr
|
UTSW |
1 |
181,648,233 (GRCm39) |
splice site |
probably benign |
|
|
IGL02991:Lbr
|
UTSW |
1 |
181,649,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Lbr
|
UTSW |
1 |
181,659,778 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1118:Lbr
|
UTSW |
1 |
181,648,233 (GRCm39) |
splice site |
probably benign |
|
|
R1727:Lbr
|
UTSW |
1 |
181,647,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2566:Lbr
|
UTSW |
1 |
181,663,692 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3854:Lbr
|
UTSW |
1 |
181,659,280 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4290:Lbr
|
UTSW |
1 |
181,648,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4292:Lbr
|
UTSW |
1 |
181,648,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4293:Lbr
|
UTSW |
1 |
181,648,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4294:Lbr
|
UTSW |
1 |
181,648,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4295:Lbr
|
UTSW |
1 |
181,648,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Lbr
|
UTSW |
1 |
181,665,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Lbr
|
UTSW |
1 |
181,645,133 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5011:Lbr
|
UTSW |
1 |
181,647,453 (GRCm39) |
nonsense |
probably null |
|
|
R5402:Lbr
|
UTSW |
1 |
181,647,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5486:Lbr
|
UTSW |
1 |
181,646,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5617:Lbr
|
UTSW |
1 |
181,656,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5630:Lbr
|
UTSW |
1 |
181,644,529 (GRCm39) |
splice site |
probably null |
|
|
R6360:Lbr
|
UTSW |
1 |
181,659,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6575:Lbr
|
UTSW |
1 |
181,663,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Lbr
|
UTSW |
1 |
181,656,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Lbr
|
UTSW |
1 |
181,653,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7590:Lbr
|
UTSW |
1 |
181,649,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Lbr
|
UTSW |
1 |
181,645,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Lbr
|
UTSW |
1 |
181,644,539 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8742:Lbr
|
UTSW |
1 |
181,644,571 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8838:Lbr
|
UTSW |
1 |
181,648,294 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8998:Lbr
|
UTSW |
1 |
181,646,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8999:Lbr
|
UTSW |
1 |
181,646,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9040:Lbr
|
UTSW |
1 |
181,644,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9059:Lbr
|
UTSW |
1 |
181,645,119 (GRCm39) |
missense |
|
|
|
R9111:Lbr
|
UTSW |
1 |
181,645,068 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9195:Lbr
|
UTSW |
1 |
181,663,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9709:Lbr
|
UTSW |
1 |
181,666,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCAAGTAAGATGGCATGCG -3'
(R):5'- ACTTCTGTGGGAGGAGACAG -3'
Sequencing Primer
(F):5'- TGGCATGCGACAGACAC -3'
(R):5'- AGAGCAACTGGACCTGCCTTTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation