Incidental Mutation 'R5599:Lbx1'
ID 438968
Institutional Source Beutler Lab
Gene Symbol Lbx1
Ensembl Gene ENSMUSG00000025216
Gene Name ladybird homeobox 1
Synonyms Lbx1h
MMRRC Submission 043151-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # R5599 (G1)
Quality Score 145
Status Not validated
Chromosome 19
Chromosomal Location 45221123-45224251 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45223519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 50 (S50C)
Ref Sequence ENSEMBL: ENSMUSP00000096997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099401]
AlphaFold P52955
Predicted Effect probably damaging
Transcript: ENSMUST00000099401
AA Change: S50C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096997
Gene: ENSMUSG00000025216
AA Change: S50C

DomainStartEndE-ValueType
low complexity region 56 79 N/A INTRINSIC
HOX 125 187 4.93e-26 SMART
low complexity region 219 227 N/A INTRINSIC
low complexity region 233 259 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired limb muscle development resulting from progenitor cell migration defects. Defects in heart development and nervous system morphology are also reported. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T A 7: 78,946,746 (GRCm39) probably null Het
Agpat3 T C 10: 78,110,103 (GRCm39) D282G probably benign Het
Ankhd1 G A 18: 36,693,860 (GRCm39) A24T probably damaging Het
Cracdl T C 1: 37,652,424 (GRCm39) N1128D possibly damaging Het
Cry1 A T 10: 84,980,114 (GRCm39) M398K probably benign Het
Dpp10 A G 1: 123,832,803 (GRCm39) I47T probably damaging Het
Fpr-rs6 C T 17: 20,402,375 (GRCm39) D329N probably benign Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gxylt1 CTCATCCGGGTCAT CTCAT 15: 93,152,198 (GRCm39) probably benign Het
Hnrnpul1 G A 7: 25,454,097 (GRCm39) probably benign Het
Lims2 A G 18: 32,090,324 (GRCm39) N183S probably benign Het
Lrp1 T C 10: 127,429,738 (GRCm39) N444S probably damaging Het
Mast4 A T 13: 102,873,987 (GRCm39) C1626S probably damaging Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Nf2 T C 11: 4,732,269 (GRCm39) E553G probably damaging Het
Nfatc4 A T 14: 56,069,733 (GRCm39) T704S probably benign Het
Or4c3d A G 2: 89,882,563 (GRCm39) V35A probably benign Het
Or56a3 T C 7: 104,735,757 (GRCm39) probably null Het
Or7g29 T G 9: 19,286,925 (GRCm39) N84T possibly damaging Het
Or9m1b T G 2: 87,836,349 (GRCm39) I258L probably benign Het
Plekha7 T A 7: 115,776,117 (GRCm39) probably null Het
Polr1a T C 6: 71,944,346 (GRCm39) M1271T possibly damaging Het
Ppip5k2 A G 1: 97,668,323 (GRCm39) M595T probably damaging Het
Ppox A T 1: 171,105,033 (GRCm39) V412D probably damaging Het
Ppp1r12b A G 1: 134,793,645 (GRCm39) V573A probably benign Het
Prkcb T C 7: 122,181,701 (GRCm39) Y430H probably benign Het
Psmd6 A C 14: 14,120,144 (GRCm38) M65R probably benign Het
Rbm12 G A 2: 155,938,713 (GRCm39) R520* probably null Het
Rin3 T C 12: 102,356,188 (GRCm39) F830L probably damaging Het
Sema4b A G 7: 79,863,039 (GRCm39) K104R probably benign Het
Slitrk1 T C 14: 109,149,244 (GRCm39) D489G probably benign Het
Spef2 T C 15: 9,729,789 (GRCm39) T110A possibly damaging Het
Sult2a6 T A 7: 13,988,629 (GRCm39) K44* probably null Het
Tasor A G 14: 27,201,886 (GRCm39) N1427D probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tcstv2c A C 13: 120,616,458 (GRCm39) Q99P probably damaging Het
Tnxb G T 17: 34,909,176 (GRCm39) G1445V probably damaging Het
Tnxb T C 17: 34,909,179 (GRCm39) V1569A probably benign Het
Zcchc2 A G 1: 105,959,880 (GRCm39) D1163G probably damaging Het
Zfp365 C T 10: 67,745,197 (GRCm39) E194K probably damaging Het
Other mutations in Lbx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Lbx1 APN 19 45,222,670 (GRCm39) missense probably benign 0.09
IGL01746:Lbx1 APN 19 45,222,214 (GRCm39) missense possibly damaging 0.85
IGL01917:Lbx1 APN 19 45,222,652 (GRCm39) nonsense probably null
purgatory UTSW 19 45,223,390 (GRCm39) missense probably damaging 1.00
R1744:Lbx1 UTSW 19 45,222,652 (GRCm39) missense probably damaging 0.99
R4276:Lbx1 UTSW 19 45,223,528 (GRCm39) missense probably benign 0.02
R6869:Lbx1 UTSW 19 45,223,390 (GRCm39) missense probably damaging 1.00
R7570:Lbx1 UTSW 19 45,223,687 (GRCm39) start gained probably benign
R8218:Lbx1 UTSW 19 45,223,359 (GRCm39) missense probably benign 0.24
R8445:Lbx1 UTSW 19 45,222,651 (GRCm39) missense probably damaging 1.00
R8865:Lbx1 UTSW 19 45,223,605 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- TAGACTTGTGCCTACCTTCGG -3'
(R):5'- TTTAAATAGCACCGGGGCTG -3'

Sequencing Primer
(F):5'- TACCTTCGGCTGCCTGCAG -3'
(R):5'- GCTGGCGAAACTGGAGC -3'
Posted On 2016-10-26