Incidental Mutation 'R4214:Lpp'
ID |
319369 |
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 |
041041-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.179)
|
Stock # |
R4214 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
24212257-24811328 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 24580804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 173
(Y173*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038053]
[ENSMUST00000078988]
[ENSMUST00000115314]
|
AlphaFold |
Q8BFW7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000038053
AA Change: Y298*
|
SMART Domains |
Protein: ENSMUSP00000036304 Gene: ENSMUSG00000033306 AA Change: Y298*
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
AA Change: Y298*
|
SMART Domains |
Protein: ENSMUSP00000078005 Gene: ENSMUSG00000033306 AA Change: Y298*
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
AA Change: Y173*
|
SMART Domains |
Protein: ENSMUSP00000110969 Gene: ENSMUSG00000033306 AA Change: Y173*
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
|
Meta Mutation Damage Score |
0.9750 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.5%
|
Validation Efficiency |
98% (64/65) |
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 |
A730013G03Rik |
C |
T |
1: 192,515,845 (GRCm39) |
|
noncoding transcript |
Het |
Abca12 |
T |
A |
1: 71,327,856 (GRCm39) |
D1408V |
probably damaging |
Het |
Abca13 |
A |
T |
11: 9,243,877 (GRCm39) |
L1913F |
probably damaging |
Het |
Acad9 |
A |
G |
3: 36,127,752 (GRCm39) |
E118G |
probably damaging |
Het |
Adamts5 |
G |
A |
16: 85,665,531 (GRCm39) |
A590V |
probably damaging |
Het |
Ano6 |
A |
C |
15: 95,863,790 (GRCm39) |
Y791S |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,346,603 (GRCm39) |
|
probably null |
Het |
Aox4 |
T |
A |
1: 58,261,051 (GRCm39) |
I128N |
probably damaging |
Het |
Atp2b3 |
A |
G |
X: 72,613,921 (GRCm39) |
M1142V |
probably benign |
Het |
AU041133 |
A |
G |
10: 81,987,223 (GRCm39) |
H292R |
probably damaging |
Het |
Bco2 |
A |
G |
9: 50,456,666 (GRCm39) |
M158T |
probably benign |
Het |
Bpnt1 |
T |
A |
1: 185,077,626 (GRCm39) |
|
probably benign |
Het |
Cadm1 |
A |
G |
9: 47,708,741 (GRCm39) |
D157G |
probably damaging |
Het |
Catsperg1 |
T |
C |
7: 28,895,357 (GRCm39) |
R499G |
possibly damaging |
Het |
Ccr7 |
T |
C |
11: 99,035,872 (GRCm39) |
E350G |
probably damaging |
Het |
Ceacam5 |
T |
A |
7: 17,486,076 (GRCm39) |
S524R |
probably benign |
Het |
Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,966,840 (GRCm39) |
E282D |
possibly damaging |
Het |
Drd2 |
A |
G |
9: 49,316,221 (GRCm39) |
K327R |
probably benign |
Het |
Erich5 |
C |
T |
15: 34,471,557 (GRCm39) |
P262L |
possibly damaging |
Het |
Ezh2 |
A |
C |
6: 47,510,748 (GRCm39) |
D578E |
probably damaging |
Het |
Fez1 |
A |
G |
9: 36,781,784 (GRCm39) |
N20S |
probably damaging |
Het |
Folr2 |
T |
G |
7: 101,492,906 (GRCm39) |
K39T |
probably damaging |
Het |
Gm10549 |
G |
T |
18: 33,597,530 (GRCm39) |
|
probably null |
Het |
Gm14393 |
C |
T |
2: 174,903,640 (GRCm39) |
C89Y |
probably benign |
Het |
Gm5329 |
T |
G |
7: 31,671,828 (GRCm39) |
|
noncoding transcript |
Het |
Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
Gpr162 |
A |
T |
6: 124,837,031 (GRCm39) |
W338R |
probably damaging |
Het |
Ift80 |
A |
T |
3: 68,898,141 (GRCm39) |
F65I |
possibly damaging |
Het |
Klra6 |
T |
G |
6: 129,995,885 (GRCm39) |
I158L |
probably benign |
Het |
Lrp12 |
A |
G |
15: 39,735,976 (GRCm39) |
V671A |
probably benign |
Het |
Lrrc27 |
C |
T |
7: 138,803,609 (GRCm39) |
R178C |
probably damaging |
Het |
Lrrc49 |
G |
A |
9: 60,573,609 (GRCm39) |
T225M |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,054,793 (GRCm39) |
S1915T |
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,181,344 (GRCm39) |
T109A |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,852,397 (GRCm39) |
E992G |
probably benign |
Het |
Msl3 |
A |
G |
X: 167,450,059 (GRCm39) |
I267T |
probably damaging |
Het |
Msl3 |
A |
T |
X: 167,445,430 (GRCm39) |
N430K |
probably damaging |
Het |
Nab2 |
G |
T |
10: 127,500,917 (GRCm39) |
Y25* |
probably null |
Het |
Notch3 |
T |
C |
17: 32,351,181 (GRCm39) |
E1938G |
possibly damaging |
Het |
Or5ae2 |
C |
T |
7: 84,506,497 (GRCm39) |
H307Y |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,354,167 (GRCm39) |
T44A |
probably damaging |
Het |
Pdpr |
A |
G |
8: 111,856,212 (GRCm39) |
|
probably benign |
Het |
Pfkp |
A |
G |
13: 6,669,261 (GRCm39) |
S241P |
probably damaging |
Het |
Phgdh |
A |
T |
3: 98,235,377 (GRCm39) |
S166T |
possibly damaging |
Het |
Plcl1 |
C |
T |
1: 55,790,494 (GRCm39) |
Q1055* |
probably null |
Het |
Plscr2 |
A |
G |
9: 92,169,790 (GRCm39) |
N80S |
probably benign |
Het |
Polr3k |
A |
T |
2: 181,510,035 (GRCm39) |
M80L |
probably benign |
Het |
Prex2 |
A |
G |
1: 11,171,383 (GRCm39) |
D304G |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,355,285 (GRCm39) |
T1529A |
probably damaging |
Het |
Rcvrn |
A |
T |
11: 67,586,514 (GRCm39) |
H91L |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Tbx18 |
T |
C |
9: 87,606,518 (GRCm39) |
Y209C |
probably damaging |
Het |
Themis3 |
T |
C |
17: 66,867,012 (GRCm39) |
N76S |
probably benign |
Het |
Trhde |
A |
T |
10: 114,623,975 (GRCm39) |
S310T |
possibly damaging |
Het |
Vmn1r213 |
G |
A |
13: 23,196,173 (GRCm39) |
C252Y |
possibly damaging |
Het |
Zfp523 |
T |
C |
17: 28,420,003 (GRCm39) |
V216A |
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 |
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'- TGCAAGTGAAGTCAGCTCAG -3'
(R):5'- ATATAGGTCTTCTTGGGGCCAC -3'
Sequencing Primer
(F):5'- AGCCCACATTACATGGCTGGTC -3'
(R):5'- TTGGGGCCACTGACTGGATAC -3'
|
Posted On |
2015-06-10 |