Incidental Mutation 'R7587:Lpp'
| ID |
628483 |
| 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 |
045712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7587 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
24212257-24811328 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 24581029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038053]
[ENSMUST00000078988]
[ENSMUST00000115314]
|
| AlphaFold |
Q8BFW7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038053
|
| SMART Domains |
Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
| 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 null
Transcript: ENSMUST00000078988
|
| SMART Domains |
Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
| 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 null
Transcript: ENSMUST00000115314
|
| SMART Domains |
Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,585,736 (GRCm39) |
T131A |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,827,578 (GRCm39) |
V15D |
probably benign |
Het |
| Asic1 |
A |
C |
15: 99,593,471 (GRCm39) |
Q276P |
probably damaging |
Het |
| Atl2 |
A |
T |
17: 80,172,496 (GRCm39) |
V158E |
probably benign |
Het |
| Atrn |
T |
A |
2: 130,822,034 (GRCm39) |
I909N |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,093,232 (GRCm39) |
V742A |
probably damaging |
Het |
| Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 104,869,004 (GRCm39) |
F165S |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,469 (GRCm39) |
E59G |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,768,515 (GRCm39) |
V10I |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,042,976 (GRCm39) |
S855C |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,932,859 (GRCm39) |
I361V |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,211,822 (GRCm39) |
I1874V |
probably benign |
Het |
| Dennd2a |
T |
G |
6: 39,460,069 (GRCm39) |
K679Q |
probably damaging |
Het |
| Dio2 |
A |
G |
12: 90,696,334 (GRCm39) |
V218A |
probably benign |
Het |
| Gpr107 |
A |
T |
2: 31,058,838 (GRCm39) |
K109N |
probably benign |
Het |
| Gpr108 |
C |
T |
17: 57,543,732 (GRCm39) |
R448Q |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,681,288 (GRCm39) |
V932A |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,512,065 (GRCm39) |
T181A |
probably damaging |
Het |
| Kdm3b |
A |
G |
18: 34,930,080 (GRCm39) |
|
probably null |
Het |
| Lipc |
A |
G |
9: 70,726,206 (GRCm39) |
Y168H |
probably damaging |
Het |
| Lipi |
C |
T |
16: 75,347,103 (GRCm39) |
V439M |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,620,729 (GRCm39) |
D3583A |
|
Het |
| Ltbr |
T |
C |
6: 125,289,315 (GRCm39) |
T165A |
probably benign |
Het |
| Mroh3 |
A |
G |
1: 136,118,736 (GRCm39) |
I527T |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,742,887 (GRCm39) |
E1133G |
probably benign |
Het |
| Nat3 |
T |
C |
8: 68,000,226 (GRCm39) |
I35T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,957,591 (GRCm39) |
|
probably null |
Het |
| Nedd1 |
G |
A |
10: 92,534,592 (GRCm39) |
T306M |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,815 (GRCm39) |
R316G |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,966,510 (GRCm39) |
H207R |
probably damaging |
Het |
| Nsun6 |
T |
C |
2: 15,044,636 (GRCm39) |
Q110R |
probably benign |
Het |
| Or1e1b-ps1 |
C |
T |
11: 73,846,010 (GRCm39) |
Q165* |
probably null |
Het |
| Or52n2c |
C |
T |
7: 104,574,263 (GRCm39) |
R236H |
probably benign |
Het |
| Or7g32 |
T |
A |
9: 19,408,818 (GRCm39) |
V258E |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,678,701 (GRCm39) |
D905G |
probably damaging |
Het |
| Pepd |
T |
C |
7: 34,668,965 (GRCm39) |
L195S |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,475 (GRCm39) |
S355P |
probably benign |
Het |
| Pop1 |
A |
T |
15: 34,502,559 (GRCm39) |
K82M |
probably damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,892,766 (GRCm39) |
D655E |
possibly damaging |
Het |
| Ppt2 |
A |
G |
17: 34,845,777 (GRCm39) |
|
probably null |
Het |
| Pramel57 |
A |
G |
5: 95,669,270 (GRCm39) |
T100A |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,637,427 (GRCm39) |
C66S |
probably damaging |
Het |
| Rfc3 |
A |
T |
5: 151,574,616 (GRCm39) |
M1K |
probably null |
Het |
| Rffl |
T |
C |
11: 82,700,974 (GRCm39) |
D284G |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,340,942 (GRCm39) |
D110G |
probably damaging |
Het |
| Rtel1 |
G |
A |
2: 180,964,108 (GRCm39) |
V36M |
probably damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,867,683 (GRCm39) |
I457K |
possibly damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,541 (GRCm39) |
M71V |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,069,822 (GRCm39) |
S989N |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,713,305 (GRCm39) |
I356F |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Tada2b |
T |
C |
5: 36,634,111 (GRCm39) |
I156V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,618,849 (GRCm39) |
K2251E |
possibly damaging |
Het |
| Tbce |
C |
T |
13: 14,194,327 (GRCm39) |
V111M |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,532,155 (GRCm39) |
L92P |
probably damaging |
Het |
| Tnr |
T |
A |
1: 159,713,778 (GRCm39) |
D735E |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,649,771 (GRCm39) |
H110R |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Unc5b |
C |
T |
10: 60,618,899 (GRCm39) |
C81Y |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,681,153 (GRCm39) |
T1041M |
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 |
|
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 |
|
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'- ACTATGCAGCAGGTCCTAGC -3'
(R):5'- GATTCCGCCCTTAGATCAGACTTTC -3'
Sequencing Primer
(F):5'- CTATGCAGCAGGTCCTAGCTATGG -3'
(R):5'- TGCACTGGATGCTGAAGA -3'
|
| Posted On |
2020-04-21 |
Incidental Mutation