Incidental Mutation 'IGL01539:Lmx1b'
ID |
90112 |
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)
|
Stock # |
IGL01539
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
33450977-33530620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33529510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 83
(D83G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041730]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041730
AA Change: D83G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043616 Gene: ENSMUSG00000038765 AA Change: D83G
Domain | Start | End | E-Value | Type |
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: ENSMUST00000147294
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152118
|
Predicted Effect |
unknown
Transcript: ENSMUST00000176067
AA Change: D72G
|
SMART Domains |
Protein: ENSMUSP00000134944 Gene: ENSMUSG00000038765 AA Change: D72G
Domain | Start | End | E-Value | Type |
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,344,374 (GRCm39) |
N497S |
possibly damaging |
Het |
Eif3b |
T |
C |
5: 140,416,008 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
Ina |
A |
G |
19: 47,003,903 (GRCm39) |
E237G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
Pde1b |
A |
T |
15: 103,433,772 (GRCm39) |
|
probably benign |
Het |
Rab29 |
G |
A |
1: 131,798,445 (GRCm39) |
R75Q |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
Spart |
A |
G |
3: 55,024,723 (GRCm39) |
D106G |
possibly damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
Tspan18 |
A |
G |
2: 93,041,198 (GRCm39) |
S135P |
probably damaging |
Het |
Ube2j1 |
T |
C |
4: 33,043,993 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
probably damaging |
Het |
|
Other mutations in Lmx1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01583:Lmx1b
|
APN |
2 |
33,459,071 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02885:Lmx1b
|
APN |
2 |
33,457,216 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
2013-12-03 |