Incidental Mutation 'IGL03108:Ldb2'
ID419080
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldb2
Ensembl Gene ENSMUSG00000039706
Gene NameLIM domain binding 2
SynonymsCLIM1, CLP-36, Ldb3, CLIM-1b, CLIM-1a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03108
Quality Score
Status
Chromosome5
Chromosomal Location44472132-44799680 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44541715 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 127 (T127I)
Ref Sequence ENSEMBL: ENSMUSP00000142442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070748] [ENSMUST00000199256] [ENSMUST00000199261] [ENSMUST00000199534]
Predicted Effect probably damaging
Transcript: ENSMUST00000070748
AA Change: T127I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067737
Gene: ENSMUSG00000039706
AA Change: T127I

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000198894
Predicted Effect probably damaging
Transcript: ENSMUST00000199256
AA Change: T127I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143775
Gene: ENSMUSG00000039706
AA Change: T127I

DomainStartEndE-ValueType
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: T127I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143289
Gene: ENSMUSG00000039706
AA Change: T127I

DomainStartEndE-ValueType
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: T127I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142442
Gene: ENSMUSG00000039706
AA Change: T127I

DomainStartEndE-ValueType
Pfam:LIM_bind 29 233 2e-71 PFAM
low complexity region 249 281 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik G A 19: 45,820,353 T633I probably damaging Het
Adgrv1 C A 13: 81,559,529 V1253F probably damaging Het
Apbb2 A G 5: 66,400,231 W296R probably damaging Het
Btbd3 T C 2: 138,284,123 V409A possibly damaging Het
C130050O18Rik A T 5: 139,415,065 D291V probably damaging Het
Catsper3 A G 13: 55,808,035 N318D probably benign Het
Chd1 T A 17: 15,725,281 D22E possibly damaging Het
Chrnb2 G A 3: 89,763,374 probably benign Het
Col24a1 G A 3: 145,323,401 G550D probably damaging Het
Cryl1 T C 14: 57,313,077 D110G probably damaging Het
Deaf1 A G 7: 141,322,961 I150T probably damaging Het
Eif3a A T 19: 60,782,309 D33E possibly damaging Het
Fabp12 C A 3: 10,250,054 G78C probably benign Het
Fat1 A G 8: 45,023,614 D1899G probably damaging Het
Galnt13 G A 2: 54,854,648 V120I probably benign Het
Ganab G A 19: 8,912,476 A635T probably damaging Het
Gm17509 G A 13: 117,220,844 probably benign Het
Gstm3 A T 3: 107,967,764 probably null Het
Hfm1 T A 5: 106,895,934 probably benign Het
Hoxd13 A C 2: 74,670,096 D327A probably damaging Het
Ints4 G T 7: 97,490,930 probably null Het
Kcna10 A T 3: 107,194,943 T297S probably benign Het
Mapk7 T C 11: 61,491,672 D68G probably damaging Het
Msh3 A T 13: 92,221,088 probably benign Het
Muc6 A G 7: 141,637,489 S2359P possibly damaging Het
Mup6 A T 4: 60,005,990 I161F possibly damaging Het
Nup160 G A 2: 90,703,825 V665I probably benign Het
Olfr1507 T A 14: 52,490,076 D296V probably damaging Het
Olfr304 T C 7: 86,385,721 Y313C possibly damaging Het
Olfr535 A G 7: 140,493,121 N161S possibly damaging Het
Otog G A 7: 46,251,338 V352I probably damaging Het
Oxct1 T A 15: 4,035,282 V34D probably benign Het
Pcdhb21 T A 18: 37,515,891 probably null Het
Pcdhb8 T G 18: 37,357,246 V659G probably damaging Het
Plxnb2 T C 15: 89,158,031 N1590S probably benign Het
Rnf168 G T 16: 32,278,281 R56L possibly damaging Het
Scn8a C T 15: 100,974,615 P362S probably benign Het
Slc1a3 T A 15: 8,639,078 I468F probably damaging Het
Slc39a14 G A 14: 70,318,919 R3W probably damaging Het
Slc7a6 T A 8: 106,194,517 N373K probably damaging Het
Snrnp200 T C 2: 127,238,167 S1955P possibly damaging Het
Stat5a T A 11: 100,863,139 Y98* probably null Het
Thsd7b G T 1: 130,210,276 G1564C probably damaging Het
Zc3h13 T C 14: 75,331,766 V1351A possibly damaging Het
Other mutations in Ldb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Ldb2 APN 5 44541684 splice site probably null
IGL01757:Ldb2 APN 5 44541867 splice site probably benign
IGL01936:Ldb2 APN 5 44480244 missense probably damaging 1.00
IGL03105:Ldb2 APN 5 44799373 missense possibly damaging 0.70
R0152:Ldb2 UTSW 5 44541799 missense possibly damaging 0.86
R0178:Ldb2 UTSW 5 44473499 missense probably damaging 1.00
R0841:Ldb2 UTSW 5 44532674 missense probably damaging 1.00
R1145:Ldb2 UTSW 5 44532674 missense probably damaging 1.00
R1145:Ldb2 UTSW 5 44532674 missense probably damaging 1.00
R1318:Ldb2 UTSW 5 44535037 critical splice donor site probably null
R1607:Ldb2 UTSW 5 44473472 missense probably damaging 0.99
R2863:Ldb2 UTSW 5 44480324 missense probably damaging 0.99
R3803:Ldb2 UTSW 5 44473394 missense probably benign 0.38
R4502:Ldb2 UTSW 5 44669407 missense probably damaging 1.00
R4613:Ldb2 UTSW 5 44476551 missense probably benign 0.27
R4985:Ldb2 UTSW 5 44480303 missense probably damaging 1.00
R5475:Ldb2 UTSW 5 44541832 missense probably damaging 1.00
R5512:Ldb2 UTSW 5 44480244 missense probably damaging 1.00
R6058:Ldb2 UTSW 5 44476563 missense possibly damaging 0.66
R6282:Ldb2 UTSW 5 44532665 missense probably damaging 1.00
R6438:Ldb2 UTSW 5 44480310 missense probably damaging 0.98
R6770:Ldb2 UTSW 5 44669396 missense probably damaging 0.99
R6830:Ldb2 UTSW 5 44541857 missense probably damaging 1.00
R8061:Ldb2 UTSW 5 44480270 missense probably damaging 1.00
R8819:Ldb2 UTSW 5 44799415 nonsense probably null
R8820:Ldb2 UTSW 5 44799415 nonsense probably null
X0026:Ldb2 UTSW 5 44532728 missense probably damaging 0.99
X0028:Ldb2 UTSW 5 44541794 missense probably benign 0.04
Posted On2016-08-02