Incidental Mutation 'IGL02885:Lmx1b'
ID362972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmx1b
Ensembl Gene ENSMUSG00000038765
Gene NameLIM homeobox transcription factor 1 beta
SynonymsIcst, LMX1.2, GENA 191
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.930) question?
Stock #IGL02885
Quality Score
Status
Chromosome2
Chromosomal Location33560965-33640511 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 33567204 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 206 (Q206K)
Ref Sequence ENSEMBL: ENSMUSP00000043616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041730]
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: 82,063,951 N683S probably benign Het
4930444G20Rik T A 10: 22,067,158 I308F possibly damaging Het
Ahi1 T A 10: 21,055,113 F46I possibly damaging Het
Als2 C T 1: 59,167,491 V1598I probably benign Het
Arid1b A T 17: 5,342,153 D1986V probably damaging Het
Bhlhe41 T A 6: 145,865,263 D2V probably damaging Het
Borcs6 A G 11: 69,060,246 D150G possibly damaging Het
Ccdc88a G T 11: 29,448,050 R261L probably damaging Het
Ccne2 T A 4: 11,198,723 probably benign Het
Cenpk A G 13: 104,249,395 D266G probably damaging Het
Ces2b T C 8: 104,834,931 V219A probably damaging Het
Cpa1 A G 6: 30,645,170 R382G probably damaging Het
Cplx4 G T 18: 65,956,913 T145N probably damaging Het
Cyp19a1 T C 9: 54,171,818 I269V probably benign Het
Dennd3 A G 15: 73,568,696 Y1192C probably benign Het
Dpp6 T C 5: 27,718,473 Y694H probably damaging Het
Eea1 C A 10: 96,041,484 N1353K probably benign Het
Fam111a T A 19: 12,584,124 probably null Het
Fat1 T C 8: 44,989,167 S1169P probably benign Het
Frk G T 10: 34,484,071 A23S probably benign Het
Fyb2 T C 4: 105,003,921 V594A probably damaging Het
Gtpbp3 C A 8: 71,489,420 probably benign Het
Hoxa5 G T 6: 52,202,708 A229D probably damaging Het
Hspb11 G A 4: 107,273,669 C52Y possibly damaging Het
Igf2r A T 17: 12,694,120 F1780L possibly damaging Het
Jade2 A T 11: 51,831,296 D143E probably damaging Het
Kdm1a T C 4: 136,552,535 I719V probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lrrtm4 G A 6: 80,021,803 G66D probably damaging Het
Myg1 G T 15: 102,332,159 G90C probably damaging Het
Nbea C T 3: 55,631,986 V2785I probably benign Het
Ncr1 C A 7: 4,338,226 P35Q probably damaging Het
Nos1 T A 5: 117,895,790 C326S probably damaging Het
Olfr410 G T 11: 74,334,693 H179Q possibly damaging Het
Olfr527 T C 7: 140,336,159 F99S possibly damaging Het
Olfr569 A T 7: 102,888,036 V39E possibly damaging Het
Pde4d A G 13: 109,948,261 Y520C probably damaging Het
Ppm1d A G 11: 85,326,944 M178V possibly damaging Het
Samd3 G A 10: 26,271,864 R479K probably benign Het
Serpinb6a A G 13: 33,918,799 V226A probably benign Het
Slc26a4 T C 12: 31,525,476 E737G probably benign Het
Slc34a3 A G 2: 25,231,057 C340R probably damaging Het
Spata31d1b C A 13: 59,719,127 probably benign Het
Trappc12 A G 12: 28,747,014 V173A probably benign Het
Vmn2r66 A T 7: 84,995,515 D562E probably benign Het
Zfp395 C T 14: 65,395,895 P451L probably benign Het
Other mutations in Lmx1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Lmx1b APN 2 33639498 missense possibly damaging 0.95
IGL01583:Lmx1b APN 2 33569059 missense probably benign 0.04
R1926:Lmx1b UTSW 2 33564662 missense probably damaging 1.00
R3056:Lmx1b UTSW 2 33567285 nonsense probably null
R3522:Lmx1b UTSW 2 33639531 missense probably benign 0.01
R3957:Lmx1b UTSW 2 33569094 missense probably damaging 0.99
R4888:Lmx1b UTSW 2 33564790 missense probably benign 0.01
R6115:Lmx1b UTSW 2 33569106 missense probably damaging 0.96
RF032:Lmx1b UTSW 2 33640489 nonsense probably null
RF035:Lmx1b UTSW 2 33640489 nonsense probably null
RF038:Lmx1b UTSW 2 33640509 start codon destroyed probably null
RF043:Lmx1b UTSW 2 33640509 start codon destroyed probably null
Posted On2015-12-18