Incidental Mutation 'IGL01583:Lmx1b'
ID91435
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: 0.915) question?
Stock #IGL01583
Quality Score
Status
Chromosome2
Chromosomal Location33560965-33640511 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33569059 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 161 (S161P)
Ref Sequence ENSEMBL: ENSMUSP00000043616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041730]
Predicted Effect probably benign
Transcript: ENSMUST00000041730
AA Change: S161P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000043616
Gene: ENSMUSG00000038765
AA Change: S161P

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: S150P
SMART Domains Protein: ENSMUSP00000134944
Gene: ENSMUSG00000038765
AA Change: S150P

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,296,409 M329K possibly damaging Het
Abce1 G A 8: 79,693,447 T300M probably damaging Het
Acap1 G A 11: 69,881,677 S536L probably damaging Het
Adcy5 C A 16: 35,283,513 probably benign Het
Ap2b1 G T 11: 83,324,611 R127L possibly damaging Het
Asxl3 T G 18: 22,516,597 S548A probably benign Het
Atm G A 9: 53,484,247 probably benign Het
Cep250 T C 2: 155,976,149 V807A probably damaging Het
Ces1g T A 8: 93,306,959 Y445F probably damaging Het
Cnksr3 A G 10: 7,120,512 Y241H probably benign Het
Col9a1 T C 1: 24,185,144 S136P unknown Het
Cux2 C A 5: 121,874,107 G422W probably damaging Het
Cyp1a2 A T 9: 57,682,372 M53K probably benign Het
Ddx20 T C 3: 105,686,670 D123G probably damaging Het
Dock4 T A 12: 40,810,467 L1284* probably null Het
Dpp9 A C 17: 56,211,666 L46R probably benign Het
Elavl1 A T 8: 4,301,699 V139E probably damaging Het
Fndc3b T C 3: 27,428,995 Y1018C probably damaging Het
Fubp1 A G 3: 152,215,624 N78D possibly damaging Het
Fubp3 C T 2: 31,611,743 probably benign Het
Gbx2 C A 1: 89,928,837 R277L probably damaging Het
Gm128 T C 3: 95,240,783 R67G possibly damaging Het
Gpc2 T A 5: 138,275,530 R469W probably damaging Het
Ifi30 G A 8: 70,764,762 probably benign Het
Kbtbd4 T C 2: 90,905,908 S88P probably damaging Het
Kif23 A T 9: 61,935,468 Y216N probably damaging Het
Lgals4 A G 7: 28,841,548 D299G probably damaging Het
Lrcol1 T A 5: 110,354,578 S107T probably benign Het
Lrrc28 A T 7: 67,545,475 probably null Het
Ncoa4 T C 14: 32,172,927 V42A probably benign Het
Nkd2 C T 13: 73,821,480 S277N probably benign Het
Nlrp2 A T 7: 5,337,770 L15Q probably damaging Het
Nynrin T G 14: 55,870,511 L1025R probably damaging Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1134 G T 2: 87,656,413 C169* probably null Het
Piwil4 A T 9: 14,734,487 F152I probably damaging Het
Plod3 T C 5: 136,996,148 S705P probably benign Het
Ppp2r2c T A 5: 36,868,822 M1K probably null Het
Rgs19 T C 2: 181,689,453 E129G probably damaging Het
Rpap2 T A 5: 107,620,195 S223T probably damaging Het
Shox2 T C 3: 66,973,771 probably benign Het
Slc30a4 T C 2: 122,685,217 I370V probably benign Het
Slco1b2 A G 6: 141,663,672 I269M possibly damaging Het
Slco1c1 A G 6: 141,540,067 Y142C probably damaging Het
Slco3a1 T C 7: 74,284,450 N658S probably benign Het
Sos1 A T 17: 80,433,900 S485R probably benign Het
Srpk1 A G 17: 28,606,317 L127P probably damaging Het
St3gal6 T A 16: 58,493,670 probably benign Het
Stk4 T A 2: 164,074,214 M1K probably null Het
Tbc1d12 A G 19: 38,882,732 E313G probably benign Het
Tbk1 A G 10: 121,557,229 I472T probably benign Het
Tiam1 G A 16: 89,789,280 R849W probably damaging Het
Tle3 A G 9: 61,410,025 T381A probably benign Het
Tmem82 T G 4: 141,614,643 T337P probably benign Het
Tmprss15 T C 16: 79,071,261 T220A probably benign Het
Ung A G 5: 114,137,308 K242E possibly damaging Het
Vmn1r211 A T 13: 22,852,401 M32K probably benign Het
Vps13d T G 4: 145,045,088 D956A probably damaging Het
Wdr64 T A 1: 175,767,156 probably null Het
Other mutations in Lmx1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01539:Lmx1b APN 2 33639498 missense possibly damaging 0.95
IGL02885:Lmx1b APN 2 33567204 missense probably benign 0.10
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
R8254:Lmx1b UTSW 2 33565114 missense
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 On2013-12-09