Incidental Mutation 'R4806:Lpp'
ID |
370706 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lpp
|
Ensembl Gene |
ENSMUSG00000033306 |
Gene Name |
LIM domain containing preferred translocation partner in lipoma |
Synonyms |
B130055L10Rik, 9430020K16Rik |
MMRRC Submission |
042425-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.179)
|
Stock # |
R4806 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
24212257-24811328 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24480430 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 66
(D66G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038053]
[ENSMUST00000078988]
|
AlphaFold |
Q8BFW7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038053
AA Change: D66G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000036304 Gene: ENSMUSG00000033306 AA Change: D66G
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: D66G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078005 Gene: ENSMUSG00000033306 AA Change: D66G
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 |
noncoding transcript
Transcript: ENSMUST00000231279
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231352
|
Meta Mutation Damage Score |
0.0966 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
100% (66/66) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
A |
G |
7: 27,265,070 (GRCm39) |
|
probably null |
Het |
2410137M14Rik |
T |
A |
17: 37,289,746 (GRCm39) |
H28L |
probably benign |
Het |
4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
Acd |
A |
G |
8: 106,424,922 (GRCm39) |
V406A |
possibly damaging |
Het |
Acin1 |
A |
T |
14: 54,916,685 (GRCm39) |
|
probably benign |
Het |
Agbl4 |
T |
C |
4: 110,812,834 (GRCm39) |
V118A |
probably damaging |
Het |
Arhgap5 |
A |
G |
12: 52,565,486 (GRCm39) |
D819G |
probably damaging |
Het |
BC049715 |
A |
T |
6: 136,816,927 (GRCm39) |
I56F |
possibly damaging |
Het |
C1rb |
A |
T |
6: 124,551,908 (GRCm39) |
Q270L |
probably benign |
Het |
Cadps2 |
C |
T |
6: 23,688,859 (GRCm39) |
R121Q |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,679,688 (GRCm39) |
Y122C |
probably benign |
Het |
Cklf |
C |
A |
8: 104,984,067 (GRCm39) |
P77T |
probably damaging |
Het |
Clrn2 |
T |
C |
5: 45,611,346 (GRCm39) |
L65P |
probably damaging |
Het |
Csde1 |
TCCTCGACCT |
TCCT |
3: 102,963,685 (GRCm39) |
|
probably benign |
Het |
Csf2rb2 |
T |
C |
15: 78,169,490 (GRCm39) |
D446G |
probably benign |
Het |
Csmd3 |
T |
C |
15: 48,177,464 (GRCm39) |
E358G |
probably benign |
Het |
Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,896,408 (GRCm39) |
T3591A |
probably damaging |
Het |
Dpp9 |
A |
G |
17: 56,497,030 (GRCm39) |
L734P |
probably damaging |
Het |
Edem2 |
A |
G |
2: 155,570,913 (GRCm39) |
V39A |
possibly damaging |
Het |
Glmp |
A |
C |
3: 88,233,320 (GRCm39) |
|
probably benign |
Het |
Gm20775 |
T |
C |
Y: 10,641,885 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
T |
G |
11: 97,240,610 (GRCm39) |
D271A |
possibly damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,412,750 (GRCm39) |
V587A |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,895,095 (GRCm39) |
T1824S |
probably benign |
Het |
Ighmbp2 |
A |
T |
19: 3,311,589 (GRCm39) |
I942N |
probably damaging |
Het |
Ints2 |
A |
G |
11: 86,147,035 (GRCm39) |
L37P |
probably benign |
Het |
Irgq |
T |
A |
7: 24,233,470 (GRCm39) |
L437Q |
probably damaging |
Het |
Kcnq4 |
A |
T |
4: 120,570,291 (GRCm39) |
W351R |
probably damaging |
Het |
Kif3b |
G |
A |
2: 153,162,288 (GRCm39) |
A500T |
probably damaging |
Het |
Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
Mc4r |
T |
A |
18: 66,992,559 (GRCm39) |
I185F |
probably damaging |
Het |
Mdga1 |
T |
C |
17: 30,061,128 (GRCm39) |
D621G |
probably benign |
Het |
Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
Myh11 |
A |
T |
16: 14,018,947 (GRCm39) |
|
probably null |
Het |
Naip1 |
G |
A |
13: 100,562,129 (GRCm39) |
A1012V |
probably benign |
Het |
Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
Plb1 |
G |
A |
5: 32,447,196 (GRCm39) |
G321D |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,937,816 (GRCm39) |
V1510A |
probably damaging |
Het |
Polr1e |
T |
A |
4: 45,024,482 (GRCm39) |
M131K |
probably benign |
Het |
Prdm10 |
T |
A |
9: 31,241,237 (GRCm39) |
*342R |
probably null |
Het |
Prex2 |
T |
C |
1: 11,138,244 (GRCm39) |
F108L |
probably damaging |
Het |
Psmg2 |
T |
A |
18: 67,781,992 (GRCm39) |
I186N |
probably benign |
Het |
Ros1 |
T |
A |
10: 51,972,271 (GRCm39) |
E1614D |
probably damaging |
Het |
Sin3a |
G |
A |
9: 56,994,026 (GRCm39) |
V44M |
probably damaging |
Het |
Slco1a1 |
G |
A |
6: 141,854,735 (GRCm39) |
L639F |
possibly damaging |
Het |
Smr2 |
T |
G |
5: 88,246,289 (GRCm39) |
L101* |
probably null |
Het |
Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
Stat5b |
G |
T |
11: 100,681,623 (GRCm39) |
H544N |
probably benign |
Het |
Syk |
A |
T |
13: 52,786,963 (GRCm39) |
Y319F |
probably benign |
Het |
Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
Tsc22d1 |
A |
G |
14: 76,654,428 (GRCm39) |
|
probably null |
Het |
Vmn2r52 |
T |
A |
7: 9,893,169 (GRCm39) |
T657S |
probably damaging |
Het |
Vmn2r63 |
A |
T |
7: 42,576,314 (GRCm39) |
S500T |
probably benign |
Het |
Vps45 |
A |
C |
3: 95,953,725 (GRCm39) |
V209G |
probably benign |
Het |
Xrcc1 |
C |
A |
7: 24,269,905 (GRCm39) |
A442E |
probably benign |
Het |
Ythdc1 |
T |
A |
5: 86,970,704 (GRCm39) |
V430E |
probably damaging |
Het |
Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
Zfp422 |
A |
T |
6: 116,603,623 (GRCm39) |
N125K |
probably damaging |
Het |
Zfp53 |
T |
A |
17: 21,725,263 (GRCm39) |
D58E |
possibly damaging |
Het |
Zfp707 |
C |
T |
15: 75,845,000 (GRCm39) |
Q66* |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGTCCTTTGCCTCTGTTTAATG -3'
(R):5'- CCTGTGTGTTTCAAAGCTCC -3'
Sequencing Primer
(F):5'- GCCTCTGTTTAATGTACTTGACC -3'
(R):5'- CTGGATAAATGCTTATGACCCACAG -3'
|
Posted On |
2016-02-04 |