Incidental Mutation 'IGL02885:Lmx1b'
ID 362972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmx1b
Ensembl Gene ENSMUSG00000038765
Gene Name LIM homeobox transcription factor 1 beta
Synonyms GENA 191, LMX1.2, Icst
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # IGL02885
Quality Score
Status
Chromosome 2
Chromosomal Location 33450977-33530620 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33457216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 206 (Q206K)
Ref Sequence ENSEMBL: ENSMUSP00000043616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041730]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041730
AA Change: Q206K

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000043616
Gene: ENSMUSG00000038765
AA Change: Q206K

DomainStartEndE-ValueType
LIM 32 83 4.48e-17 SMART
LIM 91 145 5.51e-17 SMART
low complexity region 151 172 N/A INTRINSIC
HOX 196 258 1.51e-21 SMART
low complexity region 259 272 N/A INTRINSIC
low complexity region 328 340 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137559
SMART Domains Protein: ENSMUSP00000115288
Gene: ENSMUSG00000038765

DomainStartEndE-ValueType
LIM 9 63 5.51e-17 SMART
low complexity region 69 90 N/A INTRINSIC
low complexity region 95 118 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000176067
AA Change: Q195K
SMART Domains Protein: ENSMUSP00000134944
Gene: ENSMUSG00000038765
AA Change: Q195K

DomainStartEndE-ValueType
LIM 1 38 2.23e-3 SMART
LIM 46 100 5.51e-17 SMART
low complexity region 106 127 N/A INTRINSIC
HOX 151 213 1.51e-21 SMART
low complexity region 214 227 N/A INTRINSIC
low complexity region 290 302 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.] This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit various skeletal, kidney, and eye defects. Pups also fail to suckle. Heterozygous mice with a homeodomain V265D mutation exhibit a variety of eye defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,948,152 (GRCm39) N683S probably benign Het
Ahi1 T A 10: 20,931,012 (GRCm39) F46I possibly damaging Het
Als2 C T 1: 59,206,650 (GRCm39) V1598I probably benign Het
Arid1b A T 17: 5,392,428 (GRCm39) D1986V probably damaging Het
Bhlhe41 T A 6: 145,810,989 (GRCm39) D2V probably damaging Het
Borcs6 A G 11: 68,951,072 (GRCm39) D150G possibly damaging Het
Ccdc88a G T 11: 29,398,050 (GRCm39) R261L probably damaging Het
Ccne2 T A 4: 11,198,723 (GRCm39) probably benign Het
Cenpk A G 13: 104,385,903 (GRCm39) D266G probably damaging Het
Ces2b T C 8: 105,561,563 (GRCm39) V219A probably damaging Het
Cpa1 A G 6: 30,645,169 (GRCm39) R382G probably damaging Het
Cplx4 G T 18: 66,089,984 (GRCm39) T145N probably damaging Het
Cyp19a1 T C 9: 54,079,102 (GRCm39) I269V probably benign Het
Dennd3 A G 15: 73,440,545 (GRCm39) Y1192C probably benign Het
Dpp6 T C 5: 27,923,471 (GRCm39) Y694H probably damaging Het
Eea1 C A 10: 95,877,346 (GRCm39) N1353K probably benign Het
Fam111a T A 19: 12,561,488 (GRCm39) probably null Het
Fat1 T C 8: 45,442,204 (GRCm39) S1169P probably benign Het
Frk G T 10: 34,360,067 (GRCm39) A23S probably benign Het
Fyb2 T C 4: 104,861,118 (GRCm39) V594A probably damaging Het
Gtpbp3 C A 8: 71,942,064 (GRCm39) probably benign Het
Hoxa5 G T 6: 52,179,688 (GRCm39) A229D probably damaging Het
Ift25 G A 4: 107,130,866 (GRCm39) C52Y possibly damaging Het
Igf2r A T 17: 12,913,007 (GRCm39) F1780L possibly damaging Het
Jade2 A T 11: 51,722,123 (GRCm39) D143E probably damaging Het
Kdm1a T C 4: 136,279,846 (GRCm39) I719V probably benign Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lrrtm4 G A 6: 79,998,786 (GRCm39) G66D probably damaging Het
Myg1 G T 15: 102,240,594 (GRCm39) G90C probably damaging Het
Nbea C T 3: 55,539,407 (GRCm39) V2785I probably benign Het
Ncr1 C A 7: 4,341,225 (GRCm39) P35Q probably damaging Het
Nos1 T A 5: 118,033,855 (GRCm39) C326S probably damaging Het
Or12j2 T C 7: 139,916,072 (GRCm39) F99S possibly damaging Het
Or3a1 G T 11: 74,225,519 (GRCm39) H179Q possibly damaging Het
Or52r1 A T 7: 102,537,243 (GRCm39) V39E possibly damaging Het
Pde4d A G 13: 110,084,795 (GRCm39) Y520C probably damaging Het
Ppm1d A G 11: 85,217,770 (GRCm39) M178V possibly damaging Het
Samd3 G A 10: 26,147,762 (GRCm39) R479K probably benign Het
Semp2l2b T A 10: 21,943,057 (GRCm39) I308F possibly damaging Het
Serpinb6a A G 13: 34,102,782 (GRCm39) V226A probably benign Het
Slc26a4 T C 12: 31,575,475 (GRCm39) E737G probably benign Het
Slc34a3 A G 2: 25,121,069 (GRCm39) C340R probably damaging Het
Spata31d1b C A 13: 59,866,941 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,013 (GRCm39) V173A probably benign Het
Vmn2r66 A T 7: 84,644,723 (GRCm39) D562E probably benign Het
Zfp395 C T 14: 65,633,344 (GRCm39) P451L probably benign Het
Other mutations in Lmx1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Lmx1b APN 2 33,529,510 (GRCm39) missense possibly damaging 0.95
IGL01583:Lmx1b APN 2 33,459,071 (GRCm39) missense probably benign 0.04
R1926:Lmx1b UTSW 2 33,454,674 (GRCm39) missense probably damaging 1.00
R3056:Lmx1b UTSW 2 33,457,297 (GRCm39) nonsense probably null
R3522:Lmx1b UTSW 2 33,529,543 (GRCm39) missense probably benign 0.01
R3957:Lmx1b UTSW 2 33,459,106 (GRCm39) missense probably damaging 0.99
R4888:Lmx1b UTSW 2 33,454,802 (GRCm39) missense probably benign 0.01
R6115:Lmx1b UTSW 2 33,459,118 (GRCm39) missense probably damaging 0.96
R8254:Lmx1b UTSW 2 33,455,126 (GRCm39) missense
R8787:Lmx1b UTSW 2 33,529,522 (GRCm39) missense
RF032:Lmx1b UTSW 2 33,530,501 (GRCm39) nonsense probably null
RF035:Lmx1b UTSW 2 33,530,501 (GRCm39) nonsense probably null
RF038:Lmx1b UTSW 2 33,530,521 (GRCm39) start codon destroyed probably null
RF043:Lmx1b UTSW 2 33,530,521 (GRCm39) start codon destroyed probably null
Posted On 2015-12-18