Incidental Mutation 'R3720:Ldb1'
ID 348333
Institutional Source Beutler Lab
Gene Symbol Ldb1
Ensembl Gene ENSMUSG00000025223
Gene Name LIM domain binding 1
Synonyms CLIM2
MMRRC Submission 040711-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3720 (G1)
Quality Score 23
Status Validated
Chromosome 19
Chromosomal Location 46020009-46033653 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 46033331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026252] [ENSMUST00000152946] [ENSMUST00000156585] [ENSMUST00000185355]
AlphaFold P70662
Predicted Effect probably benign
Transcript: ENSMUST00000026252
SMART Domains Protein: ENSMUSP00000026252
Gene: ENSMUSG00000025223

DomainStartEndE-ValueType
Pfam:LIM_bind 32 236 1e-72 PFAM
low complexity region 264 287 N/A INTRINSIC
PDB:2JTN|A 295 339 1e-22 PDB
low complexity region 355 368 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134015
Predicted Effect probably benign
Transcript: ENSMUST00000152946
SMART Domains Protein: ENSMUSP00000116909
Gene: ENSMUSG00000025223

DomainStartEndE-ValueType
Pfam:LIM_bind 33 189 1.1e-42 PFAM
Pfam:LIM_bind 178 235 5.5e-15 PFAM
low complexity region 264 287 N/A INTRINSIC
PDB:2YPA|D 298 337 4e-21 PDB
low complexity region 353 366 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156585
SMART Domains Protein: ENSMUSP00000118546
Gene: ENSMUSG00000025223

DomainStartEndE-ValueType
Pfam:LIM_bind 69 225 5.9e-42 PFAM
Pfam:LIM_bind 214 271 2.5e-14 PFAM
low complexity region 300 323 N/A INTRINSIC
PDB:2JTN|A 331 375 2e-22 PDB
low complexity region 391 404 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185355
SMART Domains Protein: ENSMUSP00000139562
Gene: ENSMUSG00000025223

DomainStartEndE-ValueType
Pfam:LIM_bind 68 272 5.6e-73 PFAM
low complexity region 300 323 N/A INTRINSIC
PDB:2JTN|A 331 375 2e-22 PDB
low complexity region 391 404 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 93% (40/43)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos at E9.5-E10 with impaired primitive erythropoiesis and vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl1 G A 14: 26,649,801 (GRCm39) T575M probably damaging Het
Atp2c1 A T 9: 105,300,175 (GRCm39) M708K probably damaging Het
C9 A G 15: 6,512,600 (GRCm39) T241A possibly damaging Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cd47 A G 16: 49,688,205 (GRCm39) I42V probably benign Het
Cntnap5c T C 17: 58,637,197 (GRCm39) S1025P probably benign Het
Col8a1 T C 16: 57,447,279 (GRCm39) M744V unknown Het
Cstf3 A G 2: 104,483,431 (GRCm39) probably benign Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Fry T C 5: 150,378,037 (GRCm39) S410P probably damaging Het
Glt6d1 ACCC ACCCC 2: 25,685,179 (GRCm39) probably null Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Hivep1 C T 13: 42,312,077 (GRCm39) T1439I probably benign Het
Iqgap2 T C 13: 95,805,036 (GRCm39) probably null Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kif1c T C 11: 70,594,597 (GRCm39) F86L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrmda T A 14: 22,077,399 (GRCm39) probably benign Het
Med23 T C 10: 24,767,018 (GRCm39) L369S probably damaging Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myo1b G T 1: 51,815,505 (GRCm39) H614N possibly damaging Het
Neurl1b C T 17: 26,633,949 (GRCm39) T4M probably damaging Het
Or10al7 T C 17: 38,366,259 (GRCm39) Y66C probably damaging Het
Or5t15 T C 2: 86,681,935 (GRCm39) T36A probably benign Het
Polg G A 7: 79,106,539 (GRCm39) Q163* probably null Het
Pramel12 A G 4: 143,145,949 (GRCm39) T473A probably benign Het
Sdk2 G A 11: 113,691,070 (GRCm39) P1835L probably damaging Het
Slc35a5 A T 16: 44,967,685 (GRCm39) I138N probably damaging Het
Snx31 T C 15: 36,523,704 (GRCm39) probably null Het
Speg A T 1: 75,403,426 (GRCm39) H2590L probably damaging Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Swap70 A G 7: 109,869,254 (GRCm39) E349G probably damaging Het
Sybu A G 15: 44,536,028 (GRCm39) V766A possibly damaging Het
Tns3 G A 11: 8,442,999 (GRCm39) R455W probably damaging Het
Tnxb T A 17: 34,931,938 (GRCm39) V2157E possibly damaging Het
Trak2 A T 1: 58,985,404 (GRCm39) probably null Het
Trav18 C T 14: 54,069,074 (GRCm39) R39C possibly damaging Het
Uroc1 G A 6: 90,323,337 (GRCm39) V352M probably damaging Het
Zfp106 A C 2: 120,365,080 (GRCm39) I442M probably benign Het
Zfp935 G A 13: 62,602,846 (GRCm39) Q98* probably null Het
Other mutations in Ldb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Ldb1 APN 19 46,024,014 (GRCm39) missense probably damaging 1.00
IGL02069:Ldb1 APN 19 46,021,617 (GRCm39) missense possibly damaging 0.88
IGL02380:Ldb1 APN 19 46,022,929 (GRCm39) missense possibly damaging 0.95
IGL02441:Ldb1 APN 19 46,024,195 (GRCm39) missense probably damaging 0.99
IGL02677:Ldb1 APN 19 46,024,594 (GRCm39) splice site probably benign
R1585:Ldb1 UTSW 19 46,022,903 (GRCm39) missense probably damaging 0.99
R4897:Ldb1 UTSW 19 46,023,132 (GRCm39) missense probably benign
R5830:Ldb1 UTSW 19 46,022,557 (GRCm39) missense probably benign 0.00
R7663:Ldb1 UTSW 19 46,023,963 (GRCm39) missense probably damaging 1.00
R8482:Ldb1 UTSW 19 46,024,709 (GRCm39) missense probably null 0.99
R8887:Ldb1 UTSW 19 46,023,294 (GRCm39) missense probably damaging 1.00
R9742:Ldb1 UTSW 19 46,023,858 (GRCm39) critical splice donor site probably null
X0027:Ldb1 UTSW 19 46,022,528 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGCCCCTCTAACTCTATACAGC -3'
(R):5'- TTAATAAAGCCCGGCCCAG -3'

Sequencing Primer
(F):5'- TCTAACTCTATACAGCCCCCG -3'
(R):5'- CGTACACACGCAGAGGCAG -3'
Posted On 2015-10-08