Incidental Mutation 'IGL01645:Lmbr1'
ID102630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmbr1
Ensembl Gene ENSMUSG00000010721
Gene Namelimb region 1
Synonyms1110048D14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01645
Quality Score
Status
Chromosome5
Chromosomal Location29229802-29378390 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29235055 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 410 (L410P)
Ref Sequence ENSEMBL: ENSMUSP00000142755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055195] [ENSMUST00000179191] [ENSMUST00000196321] [ENSMUST00000198105] [ENSMUST00000200564]
Predicted Effect probably damaging
Transcript: ENSMUST00000055195
AA Change: L437P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058405
Gene: ENSMUSG00000010721
AA Change: L437P

DomainStartEndE-ValueType
Pfam:LMBR1 26 281 3.5e-46 PFAM
Pfam:LMBR1 239 445 1.7e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179191
AA Change: L409P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136160
Gene: ENSMUSG00000010721
AA Change: L409P

DomainStartEndE-ValueType
Pfam:LMBR1 23 108 6e-31 PFAM
Pfam:LMBR1 106 418 5.3e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196321
AA Change: L314P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143348
Gene: ENSMUSG00000010721
AA Change: L314P

DomainStartEndE-ValueType
Pfam:LMBR1 1 323 4e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198105
AA Change: L410P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142755
Gene: ENSMUSG00000010721
AA Change: L410P

DomainStartEndE-ValueType
Pfam:LMBR1 23 107 5.4e-30 PFAM
Pfam:LMBR1 106 419 3.4e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200149
Predicted Effect probably benign
Transcript: ENSMUST00000200564
SMART Domains Protein: ENSMUSP00000143316
Gene: ENSMUSG00000010721

DomainStartEndE-ValueType
Pfam:LMBR1 1 310 8.6e-92 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show minor coalitions of distal wrist bones and a low incidence of limb defects, including oligodactyly, brachyphalangia, and soft tissue or bony syndactyly. Homozygotes for another null allele exhibit normal morphology,clinical chemistry, hematology and behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,554 E232G probably damaging Het
Abcc8 C T 7: 46,115,053 C1156Y possibly damaging Het
Armc4 T C 18: 7,268,491 S343G probably benign Het
Atp8b1 G A 18: 64,546,113 H766Y probably benign Het
BC030867 T C 11: 102,255,186 L96P probably damaging Het
Cacna2d1 C A 5: 16,012,391 probably null Het
Card11 T A 5: 140,878,023 T987S probably benign Het
Dmxl2 A T 9: 54,378,733 Y2723N possibly damaging Het
Dnah11 T A 12: 118,186,998 I342F possibly damaging Het
Dnajc10 A G 2: 80,340,527 H454R possibly damaging Het
Dpy19l3 T C 7: 35,695,338 T592A probably benign Het
Eea1 T A 10: 95,989,589 S49T probably damaging Het
Esd T A 14: 74,749,719 N294K probably benign Het
Fmo3 A G 1: 162,964,006 V234A possibly damaging Het
Folh1 A G 7: 86,742,227 F420L probably damaging Het
Gabra1 T C 11: 42,135,562 N301S probably damaging Het
Gm5422 A T 10: 31,250,073 noncoding transcript Het
Gorab A T 1: 163,386,431 L310Q possibly damaging Het
Gsdme A G 6: 50,251,336 Y51H probably damaging Het
Itpr1 T C 6: 108,473,599 I1964T possibly damaging Het
Lrrc37a T C 11: 103,504,264 R112G probably benign Het
Mrgpra6 T C 7: 47,185,933 T247A probably benign Het
Mroh4 A G 15: 74,611,358 probably benign Het
Mycbpap T C 11: 94,503,467 probably null Het
Myoz2 T A 3: 123,034,232 K12N probably damaging Het
Olfr412 T C 11: 74,365,533 I288T possibly damaging Het
P3h1 T G 4: 119,236,783 F212V probably damaging Het
Pcnx2 T C 8: 125,887,917 D265G probably damaging Het
Pkd1l3 C T 8: 109,635,302 T992I possibly damaging Het
Prss58 T C 6: 40,897,310 D144G probably damaging Het
Pth2 T A 7: 45,181,340 L29Q possibly damaging Het
Rab1b A C 19: 5,104,934 probably benign Het
Rasa2 A T 9: 96,582,781 C190* probably null Het
Scn9a T C 2: 66,487,642 K1501E possibly damaging Het
Selenoi A G 5: 30,257,823 probably benign Het
Slc11a2 T C 15: 100,389,118 N558S probably benign Het
Sox10 T C 15: 79,156,339 I173V probably benign Het
Sra1 A C 18: 36,671,473 F476C probably damaging Het
St5 T A 7: 109,527,634 K540* probably null Het
Tmem119 T A 5: 113,795,348 K131* probably null Het
Trim12c T A 7: 104,345,054 K198* probably null Het
Ttn A G 2: 76,851,560 probably benign Het
Unc119b C T 5: 115,127,312 V154I probably benign Het
Usp47 T A 7: 112,054,862 S108R probably damaging Het
Vmn1r15 T A 6: 57,258,562 C138* probably null Het
Vmn1r191 T C 13: 22,179,444 I47V probably benign Het
Wnt3 C T 11: 103,812,378 A229V probably benign Het
Other mutations in Lmbr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Lmbr1 APN 5 29254235 splice site probably benign
IGL02793:Lmbr1 APN 5 29292188 missense probably damaging 1.00
IGL02875:Lmbr1 APN 5 29292188 missense probably damaging 1.00
IGL03103:Lmbr1 APN 5 29235016 missense probably damaging 0.99
IGL02988:Lmbr1 UTSW 5 29292223 splice site probably null
R0255:Lmbr1 UTSW 5 29252755 missense probably damaging 1.00
R0594:Lmbr1 UTSW 5 29292209 missense possibly damaging 0.87
R0993:Lmbr1 UTSW 5 29287393 missense probably damaging 1.00
R1036:Lmbr1 UTSW 5 29258747 missense probably damaging 1.00
R1570:Lmbr1 UTSW 5 29254558 missense probably damaging 1.00
R1724:Lmbr1 UTSW 5 29361083 missense probably benign 0.03
R2056:Lmbr1 UTSW 5 29233094 missense probably benign 0.07
R2996:Lmbr1 UTSW 5 29363933 missense probably benign 0.29
R4082:Lmbr1 UTSW 5 29258755 missense probably damaging 1.00
R4618:Lmbr1 UTSW 5 29346865 missense probably damaging 1.00
R4842:Lmbr1 UTSW 5 29287426 missense probably damaging 0.97
R4857:Lmbr1 UTSW 5 29323809 missense probably damaging 0.98
R5495:Lmbr1 UTSW 5 29346853 nonsense probably null
R5647:Lmbr1 UTSW 5 29263393 critical splice donor site probably null
R6393:Lmbr1 UTSW 5 29254294 missense probably damaging 1.00
R6466:Lmbr1 UTSW 5 29378168 missense probably benign 0.05
R6486:Lmbr1 UTSW 5 29323861 missense probably damaging 0.99
R6576:Lmbr1 UTSW 5 29291310 missense probably damaging 1.00
R6874:Lmbr1 UTSW 5 29292906 missense probably damaging 1.00
R7085:Lmbr1 UTSW 5 29361092 splice site probably null
R7484:Lmbr1 UTSW 5 29346852 start gained probably benign
R7487:Lmbr1 UTSW 5 29254264 missense probably benign 0.38
Z1088:Lmbr1 UTSW 5 29323816 missense probably damaging 1.00
Posted On2014-01-21