Incidental Mutation 'IGL02811:Lmx1a'
| ID |
360587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmx1a
|
| Ensembl Gene |
ENSMUSG00000026686 |
| Gene Name |
LIM homeobox transcription factor 1 alpha |
| Synonyms |
shaker short-tail, Lmx1.1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
IGL02811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
167516806-167676310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 167618943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 101
(I101V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028003]
[ENSMUST00000111377]
|
| AlphaFold |
Q9JKU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028003
AA Change: I101V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000028003
Gene: ENSMUSG00000026686
AA Change: I101V
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
34 |
85 |
2.87e-15 |
SMART |
|
LIM
|
93 |
147 |
3.39e-17 |
SMART |
|
HOX
|
195 |
257 |
2.62e-21 |
SMART |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111377
AA Change: I101V
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107008
Gene: ENSMUSG00000026686
AA Change: I101V
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
34 |
85 |
2.87e-15 |
SMART |
|
LIM
|
93 |
147 |
3.39e-17 |
SMART |
|
HOX
|
195 |
257 |
2.62e-21 |
SMART |
|
low complexity region
|
337 |
350 |
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 homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mutations in the dreher locus produce neurological and skeletal abnormalities, inner ear defects, and belly spotting. Deafness and hypoplasia of Mullerian duct derivatives are also reported for some alleles. Homozygous null mice have fewer dopaminergic neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
C |
T |
13: 4,562,682 (GRCm39) |
R90H |
possibly damaging |
Het |
| BC048679 |
A |
T |
7: 81,144,937 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,832,221 (GRCm39) |
R984G |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,285 (GRCm39) |
I1139T |
possibly damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,273 (GRCm39) |
R167G |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,658,130 (GRCm39) |
K670E |
possibly damaging |
Het |
| Crtac1 |
T |
C |
19: 42,322,350 (GRCm39) |
E130G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,196,069 (GRCm39) |
T426A |
probably benign |
Het |
| Dimt1 |
T |
C |
13: 107,084,175 (GRCm39) |
|
probably benign |
Het |
| Dnal1 |
G |
A |
12: 84,178,166 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
C |
7: 80,029,589 (GRCm39) |
Y631C |
probably damaging |
Het |
| Hemk1 |
A |
T |
9: 107,208,750 (GRCm39) |
V149E |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,657,076 (GRCm39) |
V397A |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,026 (GRCm39) |
L2028* |
probably null |
Het |
| Krt33b |
C |
A |
11: 99,920,395 (GRCm39) |
C86F |
probably benign |
Het |
| Mlh1 |
A |
G |
9: 111,100,582 (GRCm39) |
V4A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,944,718 (GRCm39) |
I440V |
possibly damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,795,804 (GRCm39) |
Y28H |
probably benign |
Het |
| Oas3 |
C |
A |
5: 120,902,387 (GRCm39) |
E636D |
unknown |
Het |
| Olfm4 |
T |
A |
14: 80,259,113 (GRCm39) |
S454T |
probably damaging |
Het |
| Or4l15 |
T |
A |
14: 50,197,590 (GRCm39) |
|
probably benign |
Het |
| Or52ab2 |
T |
C |
7: 102,970,140 (GRCm39) |
I174T |
probably benign |
Het |
| Otoa |
G |
T |
7: 120,717,878 (GRCm39) |
G365V |
possibly damaging |
Het |
| Pdgfrl |
G |
T |
8: 41,430,005 (GRCm39) |
R124L |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,411,851 (GRCm39) |
V380E |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,836,106 (GRCm39) |
D345G |
probably damaging |
Het |
| Shq1 |
A |
T |
6: 100,607,945 (GRCm39) |
I322N |
probably damaging |
Het |
| Skint4 |
C |
A |
4: 111,944,200 (GRCm39) |
T4K |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,107,149 (GRCm39) |
I469T |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,607,988 (GRCm39) |
R319G |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,793,348 (GRCm39) |
I507M |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,923,458 (GRCm39) |
I271N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,858,335 (GRCm39) |
D2157G |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,231,899 (GRCm39) |
V586D |
probably benign |
Het |
|
| Other mutations in Lmx1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02624:Lmx1a
|
APN |
1 |
167,672,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL02629:Lmx1a
|
APN |
1 |
167,672,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL02637:Lmx1a
|
APN |
1 |
167,672,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL02642:Lmx1a
|
APN |
1 |
167,672,192 (GRCm39) |
splice site |
probably benign |
|
|
scooby
|
UTSW |
1 |
167,658,256 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0320:Lmx1a
|
UTSW |
1 |
167,618,973 (GRCm39) |
nonsense |
probably null |
|
|
R1217:Lmx1a
|
UTSW |
1 |
167,618,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Lmx1a
|
UTSW |
1 |
167,658,109 (GRCm39) |
splice site |
probably benign |
|
|
R4211:Lmx1a
|
UTSW |
1 |
167,660,428 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4976:Lmx1a
|
UTSW |
1 |
167,619,123 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5125:Lmx1a
|
UTSW |
1 |
167,658,256 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6858:Lmx1a
|
UTSW |
1 |
167,660,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Lmx1a
|
UTSW |
1 |
167,658,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Lmx1a
|
UTSW |
1 |
167,674,247 (GRCm39) |
missense |
probably benign |
|
|
R7380:Lmx1a
|
UTSW |
1 |
167,519,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Lmx1a
|
UTSW |
1 |
167,668,521 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8329:Lmx1a
|
UTSW |
1 |
167,517,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9269:Lmx1a
|
UTSW |
1 |
167,658,194 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Lmx1a
|
UTSW |
1 |
167,519,568 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2015-12-18 |
Incidental Mutation