Incidental Mutation 'R4985:Ldb2'
| ID |
385818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ldb2
|
| Ensembl Gene |
ENSMUSG00000039706 |
| Gene Name |
LIM domain binding 2 |
| Synonyms |
CLIM1, Ldb3, CLIM-1a, CLIM-1b, CLP-36 |
| MMRRC Submission |
042579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4985 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
44629474-44957022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44637645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 221
(K221I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070748]
[ENSMUST00000199256]
[ENSMUST00000199261]
[ENSMUST00000199534]
|
| AlphaFold |
O55203 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070748
AA Change: K221I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067737
Gene: ENSMUSG00000039706
AA Change: K221I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIM_bind
|
30 |
232 |
9.9e-56 |
PFAM |
|
low complexity region
|
249 |
281 |
N/A |
INTRINSIC |
|
PDB:2JTN|A
|
293 |
337 |
2e-21 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199256
AA Change: K221I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143775
Gene: ENSMUSG00000039706
AA Change: K221I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIM_bind
|
30 |
232 |
6.9e-56 |
PFAM |
|
low complexity region
|
249 |
281 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199261
AA Change: K221I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143289
Gene: ENSMUSG00000039706
AA Change: K221I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIM_bind
|
29 |
233 |
2.3e-68 |
PFAM |
|
low complexity region
|
249 |
281 |
N/A |
INTRINSIC |
|
PDB:2YPA|D
|
296 |
335 |
2e-20 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199471
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199534
AA Change: K221I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142442
Gene: ENSMUSG00000039706
AA Change: K221I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LIM_bind
|
29 |
233 |
2e-71 |
PFAM |
|
low complexity region
|
249 |
281 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8761 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (52/52) |
| 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 LIM-domain binding family. Members of this family are characterized by a conserved nuclear localization sequence, an amino-terminal homodimerization domain and a carboxy-terminal LIM interaction domain. These proteins function as adapter molecules to allow assembly of transcriptional regulatory complexes. Genetic association studies suggest functions for this gene in rhegmatogenous retinal detachment and coronary artery disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921508M14Rik |
A |
T |
12: 34,924,457 (GRCm39) |
|
probably benign |
Het |
| Actn4 |
A |
G |
7: 28,618,411 (GRCm39) |
L83P |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,276,376 (GRCm39) |
R331G |
possibly damaging |
Het |
| Bmal1 |
T |
C |
7: 112,884,280 (GRCm39) |
V106A |
probably damaging |
Het |
| Brf1 |
G |
T |
12: 112,932,990 (GRCm39) |
|
probably null |
Het |
| Cd248 |
C |
T |
19: 5,119,820 (GRCm39) |
T556I |
probably damaging |
Het |
| Cdkn2aip |
G |
T |
8: 48,166,480 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,901,772 (GRCm39) |
E399G |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,245,193 (GRCm39) |
R134H |
unknown |
Het |
| Ddb2 |
T |
C |
2: 91,042,643 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
A |
G |
16: 31,606,953 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
G |
14: 31,008,855 (GRCm39) |
E1973A |
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,691,017 (GRCm39) |
T284A |
probably benign |
Het |
| Ecm1 |
C |
T |
3: 95,643,415 (GRCm39) |
R295H |
possibly damaging |
Het |
| Efcab5 |
T |
A |
11: 77,029,055 (GRCm39) |
H92L |
probably damaging |
Het |
| Egfr |
C |
A |
11: 16,809,029 (GRCm39) |
Y74* |
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,040,692 (GRCm39) |
I838V |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,454,643 (GRCm39) |
R79Q |
probably damaging |
Het |
| Gm11568 |
C |
A |
11: 99,749,274 (GRCm39) |
P160T |
unknown |
Het |
| Gm29106 |
A |
T |
1: 118,126,950 (GRCm39) |
D214V |
probably benign |
Het |
| Htr3b |
C |
A |
9: 48,847,241 (GRCm39) |
V425F |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,146 (GRCm39) |
E347V |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,551 (GRCm39) |
I708V |
probably benign |
Het |
| Lmntd2 |
A |
C |
7: 140,793,190 (GRCm39) |
S127R |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,234,743 (GRCm39) |
|
probably null |
Het |
| Mettl26 |
T |
A |
17: 26,095,750 (GRCm39) |
*202R |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,656,016 (GRCm39) |
K485E |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,325,944 (GRCm39) |
C88R |
probably benign |
Het |
| Or2d2 |
C |
A |
7: 106,728,234 (GRCm39) |
R122L |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,658 (GRCm39) |
I47N |
possibly damaging |
Het |
| Pafah1b1 |
T |
G |
11: 74,576,814 (GRCm39) |
D159A |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,698 (GRCm39) |
V235A |
probably benign |
Het |
| Pcf11 |
T |
C |
7: 92,311,110 (GRCm39) |
T293A |
probably benign |
Het |
| Pidd1 |
A |
C |
7: 141,018,504 (GRCm39) |
*916E |
probably null |
Het |
| Pip4k2c |
T |
C |
10: 127,035,244 (GRCm39) |
I375V |
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,588 (GRCm39) |
S182T |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,334,821 (GRCm39) |
D164V |
unknown |
Het |
| Rnf8 |
T |
C |
17: 29,845,834 (GRCm39) |
S199P |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,195 (GRCm39) |
S185P |
probably benign |
Het |
| Slc47a2 |
C |
A |
11: 61,193,059 (GRCm39) |
V565L |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,078,033 (GRCm39) |
F274I |
probably damaging |
Het |
| Tgif1 |
T |
C |
17: 71,151,867 (GRCm39) |
Y248C |
probably benign |
Het |
| Tlx1 |
C |
A |
19: 45,139,421 (GRCm39) |
Q23K |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Tspyl1 |
G |
A |
10: 34,158,334 (GRCm39) |
D20N |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,959 (GRCm39) |
F24L |
probably damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,741,230 (GRCm39) |
V287D |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,340,228 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
T |
G |
8: 123,994,646 (GRCm39) |
V571G |
probably damaging |
Het |
|
| Other mutations in Ldb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Ldb2
|
APN |
5 |
44,699,026 (GRCm39) |
splice site |
probably null |
|
|
IGL01757:Ldb2
|
APN |
5 |
44,699,209 (GRCm39) |
splice site |
probably benign |
|
|
IGL01936:Ldb2
|
APN |
5 |
44,637,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Ldb2
|
APN |
5 |
44,956,715 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03108:Ldb2
|
APN |
5 |
44,699,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0152:Ldb2
|
UTSW |
5 |
44,699,141 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0178:Ldb2
|
UTSW |
5 |
44,630,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0841:Ldb2
|
UTSW |
5 |
44,690,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1145:Ldb2
|
UTSW |
5 |
44,690,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1145:Ldb2
|
UTSW |
5 |
44,690,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1318:Ldb2
|
UTSW |
5 |
44,692,379 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1607:Ldb2
|
UTSW |
5 |
44,630,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2863:Ldb2
|
UTSW |
5 |
44,637,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3803:Ldb2
|
UTSW |
5 |
44,630,736 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4502:Ldb2
|
UTSW |
5 |
44,826,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Ldb2
|
UTSW |
5 |
44,633,893 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5475:Ldb2
|
UTSW |
5 |
44,699,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Ldb2
|
UTSW |
5 |
44,637,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Ldb2
|
UTSW |
5 |
44,633,905 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6282:Ldb2
|
UTSW |
5 |
44,690,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:Ldb2
|
UTSW |
5 |
44,637,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6770:Ldb2
|
UTSW |
5 |
44,826,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6830:Ldb2
|
UTSW |
5 |
44,699,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Ldb2
|
UTSW |
5 |
44,637,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Ldb2
|
UTSW |
5 |
44,956,757 (GRCm39) |
nonsense |
probably null |
|
|
R8820:Ldb2
|
UTSW |
5 |
44,956,757 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Ldb2
|
UTSW |
5 |
44,690,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Ldb2
|
UTSW |
5 |
44,699,136 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCCAAAGCATGACTGG -3'
(R):5'- CCTTAAGTGGGCATAATCAAATACAGG -3'
Sequencing Primer
(F):5'- GCATGACTGGAATACTCCTAGC -3'
(R):5'- TTCTTTCCCTTCAAACATACATAGAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation