Incidental Mutation 'IGL00588:Lpp'
| ID |
11804 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lpp
|
| Ensembl Gene |
ENSMUSG00000033306 |
| Gene Name |
LIM domain containing preferred translocation partner in lipoma |
| Synonyms |
B130055L10Rik, 9430020K16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
IGL00588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
24212257-24811328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24663938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 280
(M280T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038053]
[ENSMUST00000078988]
[ENSMUST00000115314]
[ENSMUST00000232546]
|
| AlphaFold |
Q8BFW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038053
AA Change: M405T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: M405T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
93 |
N/A |
INTRINSIC |
|
coiled coil region
|
109 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
386 |
N/A |
INTRINSIC |
|
LIM
|
416 |
469 |
1.03e-16 |
SMART |
|
LIM
|
476 |
528 |
1.94e-12 |
SMART |
|
LIM
|
536 |
597 |
2.5e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078988
AA Change: M405T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: M405T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
93 |
N/A |
INTRINSIC |
|
coiled coil region
|
109 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
386 |
N/A |
INTRINSIC |
|
LIM
|
416 |
469 |
1.03e-16 |
SMART |
|
LIM
|
476 |
528 |
1.94e-12 |
SMART |
|
LIM
|
536 |
597 |
2.5e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115314
AA Change: M280T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: M280T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
261 |
N/A |
INTRINSIC |
|
LIM
|
291 |
344 |
1.03e-16 |
SMART |
|
LIM
|
351 |
403 |
1.94e-12 |
SMART |
|
LIM
|
411 |
472 |
2.5e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232546
AA Change: M5T
|
| 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 a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Gene disruption results in fertility problems involving females but not males. Migration and survival of MEFs are also abnormal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc5 |
G |
A |
17: 56,601,262 (GRCm39) |
P288S |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,916,863 (GRCm39) |
I487M |
probably damaging |
Het |
| Cd1d1 |
T |
C |
3: 86,905,480 (GRCm39) |
D171G |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,858,917 (GRCm39) |
N530S |
probably benign |
Het |
| Csn1s1 |
A |
G |
5: 87,815,118 (GRCm39) |
I5V |
probably benign |
Het |
| Fam120b |
T |
A |
17: 15,622,857 (GRCm39) |
Y278* |
probably null |
Het |
| Fam186a |
T |
C |
15: 99,825,572 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
G |
A |
3: 85,579,925 (GRCm39) |
T760M |
probably benign |
Het |
| Gimap6 |
T |
C |
6: 48,679,355 (GRCm39) |
K227R |
possibly damaging |
Het |
| Gli3 |
A |
T |
13: 15,818,977 (GRCm39) |
T260S |
possibly damaging |
Het |
| Gm12888 |
A |
T |
4: 121,176,642 (GRCm39) |
M53K |
possibly damaging |
Het |
| Klhl9 |
C |
T |
4: 88,639,056 (GRCm39) |
S395N |
probably damaging |
Het |
| Ly96 |
A |
G |
1: 16,776,452 (GRCm39) |
|
probably null |
Het |
| Mamdc2 |
T |
A |
19: 23,330,680 (GRCm39) |
T376S |
possibly damaging |
Het |
| Man2b1 |
C |
A |
8: 85,811,267 (GRCm39) |
|
probably null |
Het |
| Ndufs8 |
G |
A |
19: 3,961,740 (GRCm39) |
R3C |
probably benign |
Het |
| Prox1 |
T |
C |
1: 189,855,607 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,089,536 (GRCm39) |
N97S |
probably damaging |
Het |
| Rfx3 |
G |
A |
19: 27,803,476 (GRCm39) |
Q270* |
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,346 (GRCm39) |
I317V |
probably benign |
Het |
| Smim15 |
T |
C |
13: 108,184,063 (GRCm39) |
L23P |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 136,001,003 (GRCm39) |
N338Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,658,071 (GRCm39) |
|
probably benign |
Het |
| Zfp61 |
T |
A |
7: 23,990,520 (GRCm39) |
I544F |
probably benign |
Het |
| Zfp954 |
C |
T |
7: 7,118,366 (GRCm39) |
A393T |
probably benign |
Het |
|
| Other mutations in Lpp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01354:Lpp
|
APN |
16 |
24,580,816 (GRCm39) |
nonsense |
probably null |
|
|
IGL02141:Lpp
|
APN |
16 |
24,580,365 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02182:Lpp
|
APN |
16 |
24,580,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02230:Lpp
|
APN |
16 |
24,580,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02232:Lpp
|
APN |
16 |
24,580,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02234:Lpp
|
APN |
16 |
24,580,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02236:Lpp
|
APN |
16 |
24,580,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02371:Lpp
|
APN |
16 |
24,580,361 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03265:Lpp
|
APN |
16 |
24,580,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Lpp
|
UTSW |
16 |
24,580,697 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0047:Lpp
|
UTSW |
16 |
24,480,550 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Lpp
|
UTSW |
16 |
24,480,550 (GRCm39) |
splice site |
probably benign |
|
|
R0092:Lpp
|
UTSW |
16 |
24,580,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0385:Lpp
|
UTSW |
16 |
24,580,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Lpp
|
UTSW |
16 |
24,426,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Lpp
|
UTSW |
16 |
24,790,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0798:Lpp
|
UTSW |
16 |
24,790,622 (GRCm39) |
nonsense |
probably null |
|
|
R1199:Lpp
|
UTSW |
16 |
24,500,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Lpp
|
UTSW |
16 |
24,500,591 (GRCm39) |
nonsense |
probably null |
|
|
R1755:Lpp
|
UTSW |
16 |
24,663,874 (GRCm39) |
missense |
probably benign |
|
|
R1848:Lpp
|
UTSW |
16 |
24,580,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Lpp
|
UTSW |
16 |
24,480,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Lpp
|
UTSW |
16 |
24,708,636 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3755:Lpp
|
UTSW |
16 |
24,663,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4078:Lpp
|
UTSW |
16 |
24,500,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Lpp
|
UTSW |
16 |
24,580,804 (GRCm39) |
nonsense |
probably null |
|
|
R4712:Lpp
|
UTSW |
16 |
24,580,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4806:Lpp
|
UTSW |
16 |
24,480,430 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4968:Lpp
|
UTSW |
16 |
24,798,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5047:Lpp
|
UTSW |
16 |
24,790,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Lpp
|
UTSW |
16 |
24,708,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Lpp
|
UTSW |
16 |
24,663,956 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5875:Lpp
|
UTSW |
16 |
24,427,059 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7285:Lpp
|
UTSW |
16 |
24,796,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7587:Lpp
|
UTSW |
16 |
24,581,029 (GRCm39) |
splice site |
probably null |
|
|
R7846:Lpp
|
UTSW |
16 |
24,426,876 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R9065:Lpp
|
UTSW |
16 |
24,580,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9378:Lpp
|
UTSW |
16 |
24,540,737 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R9616:Lpp
|
UTSW |
16 |
24,580,719 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Lpp
|
UTSW |
16 |
24,580,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Lpp
|
UTSW |
16 |
24,480,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation