Incidental Mutation 'PIT4585001:Lpp'
| ID |
556630 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4585001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
24212257-24811328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24580697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 263
(C263R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038053]
[ENSMUST00000078988]
[ENSMUST00000115314]
|
| AlphaFold |
Q8BFW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038053
AA Change: C263R
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: C263R
| 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 benign
Transcript: ENSMUST00000078988
AA Change: C263R
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: C263R
| 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 |
possibly damaging
Transcript: ENSMUST00000115314
AA Change: C138R
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: C138R
| 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 |
|
| Coding Region Coverage |
- 1x: 93.6%
- 3x: 91.2%
- 10x: 86.5%
- 20x: 76.8%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aurka |
T |
C |
2: 172,199,117 (GRCm39) |
M318V |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,531,342 (GRCm39) |
D560E |
probably damaging |
Het |
| Ccdc148 |
T |
A |
2: 58,872,988 (GRCm39) |
T202S |
probably benign |
Het |
| Cdc42bpb |
T |
C |
12: 111,271,412 (GRCm39) |
D1149G |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,390,285 (GRCm39) |
N156K |
probably damaging |
Het |
| Cox18 |
G |
A |
5: 90,365,434 (GRCm39) |
T255I |
possibly damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,394 (GRCm39) |
T783A |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,491,996 (GRCm39) |
Y609C |
probably damaging |
Het |
| Doc2g |
A |
G |
19: 4,056,630 (GRCm39) |
T339A |
probably benign |
Het |
| Eif5a |
T |
C |
11: 69,808,896 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,386,940 (GRCm39) |
|
probably null |
Het |
| Esco1 |
A |
T |
18: 10,594,355 (GRCm39) |
C310* |
probably null |
Het |
| Fam222a |
A |
G |
5: 114,749,101 (GRCm39) |
Y99C |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,496,573 (GRCm39) |
L339P |
probably damaging |
Het |
| Gfral |
A |
T |
9: 76,104,576 (GRCm39) |
N145K |
probably damaging |
Het |
| Gga1 |
T |
A |
15: 78,777,990 (GRCm39) |
N618K |
probably benign |
Het |
| Gpatch3 |
T |
A |
4: 133,310,397 (GRCm39) |
H447Q |
probably damaging |
Het |
| Gpn1 |
A |
T |
5: 31,666,747 (GRCm39) |
R346* |
probably null |
Het |
| Gsg1 |
T |
C |
6: 135,214,558 (GRCm39) |
E317G |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,816 (GRCm39) |
N129S |
probably damaging |
Het |
| Hmg20b |
G |
T |
10: 81,184,789 (GRCm39) |
D94E |
possibly damaging |
Het |
| Kash5 |
C |
T |
7: 44,849,695 (GRCm39) |
G76D |
probably benign |
Het |
| Klhdc9 |
T |
A |
1: 171,187,386 (GRCm39) |
H204L |
possibly damaging |
Het |
| Klhl24 |
A |
G |
16: 19,925,638 (GRCm39) |
I55M |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,104 (GRCm39) |
D2002G |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,950,742 (GRCm39) |
N1015S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,159,216 (GRCm39) |
I1689V |
|
Het |
| Mipep |
C |
A |
14: 61,022,284 (GRCm39) |
Q50K |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,257,454 (GRCm39) |
D101G |
probably benign |
Het |
| Nabp2 |
C |
G |
10: 128,244,676 (GRCm39) |
E37Q |
possibly damaging |
Het |
| Nme6 |
A |
G |
9: 109,671,104 (GRCm39) |
I115V |
possibly damaging |
Het |
| Nup93 |
A |
T |
8: 94,970,355 (GRCm39) |
T85S |
probably benign |
Het |
| Oit3 |
T |
A |
10: 59,266,835 (GRCm39) |
I224F |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,975 (GRCm39) |
K331R |
probably benign |
Het |
| Pls1 |
T |
A |
9: 95,643,443 (GRCm39) |
T519S |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,736,118 (GRCm39) |
F197L |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,349,218 (GRCm39) |
T3773I |
|
Het |
| Rprd1b |
A |
T |
2: 157,889,877 (GRCm39) |
I153L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,829,804 (GRCm39) |
D462G |
possibly damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,794,276 (GRCm39) |
S548L |
possibly damaging |
Het |
| Sim1 |
T |
A |
10: 50,860,284 (GRCm39) |
Y715* |
probably null |
Het |
| Slc18a2 |
A |
T |
19: 59,282,293 (GRCm39) |
Q500L |
possibly damaging |
Het |
| Slc5a8 |
T |
G |
10: 88,722,365 (GRCm39) |
M66R |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,055,246 (GRCm39) |
T233A |
probably damaging |
Het |
| Smu1 |
T |
C |
4: 40,739,623 (GRCm39) |
T396A |
probably benign |
Het |
| Tas2r104 |
T |
C |
6: 131,662,521 (GRCm39) |
T63A |
possibly damaging |
Het |
| Tasor2 |
G |
A |
13: 3,624,979 (GRCm39) |
A1657V |
possibly damaging |
Het |
| Top2a |
C |
T |
11: 98,892,199 (GRCm39) |
A1088T |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,020,577 (GRCm39) |
F129S |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,091,298 (GRCm39) |
D41E |
probably benign |
Het |
| Usp10 |
T |
G |
8: 120,681,631 (GRCm39) |
V696G |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,557,066 (GRCm39) |
V745M |
probably damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,373,820 (GRCm39) |
N41K |
probably damaging |
Het |
| Zfp109 |
T |
A |
7: 23,928,779 (GRCm39) |
D218V |
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,575,430 (GRCm39) |
R550Q |
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 |
|
IGL03265:Lpp
|
APN |
16 |
24,580,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCCCAGTGACTCCAATTG -3'
(R):5'- GGTTGAACCTGTTGCCCATAAG -3'
Sequencing Primer
(F):5'- CAGTGACTCCAATTGGAACAC -3'
(R):5'- TGTTGCCCATAAGCAGTATCAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation