Incidental Mutation 'IGL02141:Lpp'
ID |
281533 |
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 # |
IGL02141
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
24212257-24811328 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24580365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 27
(S27F)
|
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: S152F
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000036304 Gene: ENSMUSG00000033306 AA Change: S152F
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: S152F
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078005 Gene: ENSMUSG00000033306 AA Change: S152F
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: S27F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110969 Gene: ENSMUSG00000033306 AA Change: S27F
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
C |
T |
5: 146,120,275 (GRCm39) |
A188T |
probably benign |
Het |
2310022B05Rik |
A |
T |
8: 125,364,645 (GRCm39) |
|
probably benign |
Het |
Atf6b |
C |
A |
17: 34,872,251 (GRCm39) |
H539Q |
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,729,593 (GRCm39) |
|
probably benign |
Het |
Bpifb5 |
G |
T |
2: 154,071,477 (GRCm39) |
|
probably null |
Het |
Cep89 |
T |
A |
7: 35,120,349 (GRCm39) |
M377K |
probably damaging |
Het |
Clpx |
G |
T |
9: 65,219,400 (GRCm39) |
|
probably null |
Het |
Cops5 |
T |
C |
1: 10,105,342 (GRCm39) |
K47E |
probably damaging |
Het |
Cryba2 |
T |
C |
1: 74,931,943 (GRCm39) |
N35S |
probably benign |
Het |
Ddx27 |
A |
G |
2: 166,862,443 (GRCm39) |
K162E |
possibly damaging |
Het |
Dhx36 |
A |
G |
3: 62,401,310 (GRCm39) |
S319P |
probably benign |
Het |
Dram2 |
A |
G |
3: 106,479,012 (GRCm39) |
|
probably benign |
Het |
Eci2 |
T |
A |
13: 35,162,656 (GRCm39) |
T300S |
probably benign |
Het |
Egf |
C |
A |
3: 129,533,631 (GRCm39) |
G70* |
probably null |
Het |
Eif5b |
T |
C |
1: 38,071,403 (GRCm39) |
V444A |
probably benign |
Het |
Elf3 |
T |
C |
1: 135,185,445 (GRCm39) |
D23G |
possibly damaging |
Het |
Epb41l4b |
A |
T |
4: 57,103,422 (GRCm39) |
|
probably null |
Het |
Fam167a |
T |
A |
14: 63,689,708 (GRCm39) |
S2T |
probably benign |
Het |
Flrt3 |
A |
G |
2: 140,502,608 (GRCm39) |
V340A |
probably damaging |
Het |
Gimap3 |
T |
C |
6: 48,742,312 (GRCm39) |
E206G |
probably benign |
Het |
Gp6 |
T |
C |
7: 4,397,103 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,788,101 (GRCm39) |
M581L |
probably damaging |
Het |
Hapln3 |
A |
G |
7: 78,767,893 (GRCm39) |
V167A |
probably damaging |
Het |
Hnrnpll |
G |
A |
17: 80,358,142 (GRCm39) |
T203I |
probably benign |
Het |
Ighv3-6 |
A |
G |
12: 114,251,982 (GRCm39) |
I47T |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,387,869 (GRCm39) |
T926M |
probably damaging |
Het |
Lonp1 |
A |
T |
17: 56,922,086 (GRCm39) |
S765T |
probably benign |
Het |
Lrit2 |
T |
C |
14: 36,790,031 (GRCm39) |
|
probably benign |
Het |
Luc7l |
C |
A |
17: 26,472,054 (GRCm39) |
T17K |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,249,708 (GRCm39) |
T228A |
possibly damaging |
Het |
Mroh1 |
G |
T |
15: 76,330,799 (GRCm39) |
S1161I |
possibly damaging |
Het |
Muc5b |
T |
G |
7: 141,407,104 (GRCm39) |
C1091G |
unknown |
Het |
Nppb |
A |
T |
4: 148,070,463 (GRCm39) |
I11F |
probably benign |
Het |
Nsf |
A |
T |
11: 103,719,351 (GRCm39) |
D650E |
probably benign |
Het |
Ogdh |
A |
G |
11: 6,305,015 (GRCm39) |
K907E |
probably damaging |
Het |
Or1b1 |
G |
A |
2: 36,995,437 (GRCm39) |
S75F |
probably benign |
Het |
Or1j15 |
A |
G |
2: 36,458,820 (GRCm39) |
D70G |
probably damaging |
Het |
Or7a35 |
A |
G |
10: 78,853,555 (GRCm39) |
Y133C |
probably damaging |
Het |
Pcnx1 |
A |
T |
12: 81,907,156 (GRCm39) |
Q4L |
possibly damaging |
Het |
Pgc |
T |
A |
17: 48,037,856 (GRCm39) |
L9H |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,285,556 (GRCm39) |
S887T |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,815 (GRCm39) |
D3239G |
probably damaging |
Het |
Pole4 |
T |
C |
6: 82,625,015 (GRCm39) |
T116A |
probably benign |
Het |
Potegl |
T |
C |
2: 23,120,212 (GRCm39) |
F203L |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,498 (GRCm39) |
N300D |
possibly damaging |
Het |
Rara |
T |
A |
11: 98,858,907 (GRCm39) |
Y119N |
probably damaging |
Het |
Rbck1 |
G |
T |
2: 152,160,294 (GRCm39) |
R462S |
possibly damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slfn2 |
C |
A |
11: 82,960,670 (GRCm39) |
N216K |
probably benign |
Het |
Suox |
A |
G |
10: 128,507,967 (GRCm39) |
|
probably benign |
Het |
Tars1 |
T |
A |
15: 11,391,280 (GRCm39) |
Y283F |
probably damaging |
Het |
Trpm4 |
A |
T |
7: 44,967,603 (GRCm39) |
|
probably null |
Het |
Ubtd2 |
A |
T |
11: 32,449,262 (GRCm39) |
K36N |
probably benign |
Het |
Unkl |
T |
C |
17: 25,448,408 (GRCm39) |
L327P |
probably damaging |
Het |
Vmn1r11 |
T |
A |
6: 57,114,364 (GRCm39) |
Y9* |
probably null |
Het |
Vps13b |
T |
C |
15: 35,572,227 (GRCm39) |
V948A |
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,192,264 (GRCm39) |
H403R |
probably damaging |
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 |
|
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 |
2015-04-16 |