Incidental Mutation 'IGL01917:Lbx1'
| ID |
179989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lbx1
|
| Ensembl Gene |
ENSMUSG00000025216 |
| Gene Name |
ladybird homeobox 1 |
| Synonyms |
Lbx1h |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
IGL01917
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45221123-45224251 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 45222652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 124
(K124*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099401]
|
| AlphaFold |
P52955 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099401
AA Change: K124*
|
| SMART Domains |
Protein: ENSMUSP00000096997
Gene: ENSMUSG00000025216
AA Change: K124*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
79 |
N/A |
INTRINSIC |
|
HOX
|
125 |
187 |
4.93e-26 |
SMART |
|
low complexity region
|
219 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
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 and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired limb muscle development resulting from progenitor cell migration defects. Defects in heart development and nervous system morphology are also reported. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
A |
T |
13: 23,607,959 (GRCm39) |
M15K |
unknown |
Het |
| Adal |
A |
G |
2: 120,973,035 (GRCm39) |
S31G |
possibly damaging |
Het |
| C2cd5 |
T |
C |
6: 143,018,322 (GRCm39) |
Y300C |
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,035,536 (GRCm39) |
V184E |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,943,879 (GRCm39) |
V924D |
possibly damaging |
Het |
| Fstl5 |
A |
T |
3: 76,615,153 (GRCm39) |
H738L |
probably damaging |
Het |
| Gimap4 |
T |
C |
6: 48,667,854 (GRCm39) |
M75T |
probably benign |
Het |
| Gm10238 |
A |
T |
15: 75,109,561 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,650,434 (GRCm39) |
Y307H |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,479,318 (GRCm39) |
L408P |
probably damaging |
Het |
| Naip2 |
C |
A |
13: 100,298,591 (GRCm39) |
V482L |
probably benign |
Het |
| Or52e19 |
T |
A |
7: 102,959,564 (GRCm39) |
L212* |
probably null |
Het |
| Pdcd11 |
C |
A |
19: 47,089,604 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,407,499 (GRCm39) |
S82R |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,624,284 (GRCm39) |
E71V |
probably benign |
Het |
| Prickle1 |
T |
C |
15: 93,401,408 (GRCm39) |
K359E |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,300,093 (GRCm39) |
V236A |
probably damaging |
Het |
| Serpinb3d |
T |
A |
1: 107,007,411 (GRCm39) |
T192S |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,278,708 (GRCm39) |
N219S |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Lbx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Lbx1
|
APN |
19 |
45,222,670 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01746:Lbx1
|
APN |
19 |
45,222,214 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
purgatory
|
UTSW |
19 |
45,223,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Lbx1
|
UTSW |
19 |
45,222,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4276:Lbx1
|
UTSW |
19 |
45,223,528 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5599:Lbx1
|
UTSW |
19 |
45,223,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Lbx1
|
UTSW |
19 |
45,223,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Lbx1
|
UTSW |
19 |
45,223,687 (GRCm39) |
start gained |
probably benign |
|
|
R8218:Lbx1
|
UTSW |
19 |
45,223,359 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8445:Lbx1
|
UTSW |
19 |
45,222,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Lbx1
|
UTSW |
19 |
45,223,605 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Posted On |
2014-05-07 |
Incidental Mutation