Incidental Mutation 'IGL03265:Lpp'
| ID |
415043 |
| 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: 0.179)
|
| Stock # |
IGL03265
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
24212257-24811328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24580737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 151
(Y151C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038053]
[ENSMUST00000078988]
[ENSMUST00000115314]
|
| AlphaFold |
Q8BFW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038053
AA Change: Y276C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: Y276C
| 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: Y276C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: Y276C
| 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: Y151C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: Y151C
| 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 |
noncoding transcript
Transcript: ENSMUST00000231279
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
A |
11: 109,943,929 (GRCm39) |
M1113I |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akr1a1 |
A |
G |
4: 116,495,014 (GRCm39) |
M286T |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,469,117 (GRCm39) |
S1575G |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,345,071 (GRCm39) |
D87G |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,854,439 (GRCm39) |
F1641S |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,074,628 (GRCm39) |
H1062Q |
probably benign |
Het |
| Bivm |
A |
G |
1: 44,181,005 (GRCm39) |
R396G |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,140 (GRCm39) |
D4777E |
probably benign |
Het |
| Bmi1 |
T |
A |
2: 18,686,672 (GRCm39) |
M17K |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,945,454 (GRCm39) |
N2480S |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,674,243 (GRCm39) |
E944G |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,464,075 (GRCm39) |
H236Y |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,568,007 (GRCm39) |
D1863G |
probably benign |
Het |
| Dnajc17 |
C |
A |
2: 119,016,199 (GRCm39) |
E91D |
probably benign |
Het |
| Dus2 |
C |
A |
8: 106,760,423 (GRCm39) |
|
probably benign |
Het |
| Epha6 |
T |
C |
16: 59,880,594 (GRCm39) |
|
probably benign |
Het |
| Erap1 |
A |
T |
13: 74,812,246 (GRCm39) |
T354S |
probably damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,300,259 (GRCm39) |
H851R |
probably damaging |
Het |
| Gm20532 |
G |
A |
2: 26,522,696 (GRCm39) |
C90Y |
unknown |
Het |
| Gpr21 |
T |
C |
2: 37,408,086 (GRCm39) |
Y211H |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,398,002 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
G |
A |
9: 14,972,255 (GRCm39) |
T895I |
probably benign |
Het |
| Hey1 |
T |
C |
3: 8,729,974 (GRCm39) |
Y161C |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,121,433 (GRCm39) |
Y526H |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,711 (GRCm39) |
N493S |
probably benign |
Het |
| Or2t45 |
T |
C |
11: 58,669,697 (GRCm39) |
V248A |
probably damaging |
Het |
| Or52s6 |
C |
A |
7: 103,091,655 (GRCm39) |
R225L |
probably benign |
Het |
| Or5m10b |
T |
A |
2: 85,699,494 (GRCm39) |
M186K |
possibly damaging |
Het |
| Or5t16 |
T |
A |
2: 86,819,424 (GRCm39) |
Y32F |
probably damaging |
Het |
| Or6c1b |
A |
T |
10: 129,272,794 (GRCm39) |
T38S |
possibly damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,206 (GRCm39) |
D445G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,470,614 (GRCm39) |
N123D |
probably benign |
Het |
| Slc25a33 |
A |
C |
4: 149,846,893 (GRCm39) |
L56R |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,155,635 (GRCm39) |
V714A |
possibly damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,898 (GRCm39) |
L188* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,936 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,154,339 (GRCm39) |
Y352C |
probably benign |
Het |
|
| Other mutations in Lpp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Lpp
|
APN |
16 |
24,663,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation