Incidental Mutation 'R5371:Lpp'
| ID |
428751 |
| 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 # |
R5371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
24212257-24811328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24708554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 295
(C295R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038053]
[ENSMUST00000078988]
[ENSMUST00000115314]
[ENSMUST00000232546]
|
| AlphaFold |
Q8BFW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038053
AA Change: C420R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: C420R
| 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: C420R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: C420R
| 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: C295R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: C295R
| 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 |
probably benign
Transcript: ENSMUST00000232546
|
| Meta Mutation Damage Score |
0.9613 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
96% (71/74) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,261,918 (GRCm39) |
|
noncoding transcript |
Het |
| Arpp21 |
G |
A |
9: 111,895,000 (GRCm39) |
P755S |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,398,279 (GRCm39) |
Q982* |
probably null |
Het |
| Atp5f1e |
C |
T |
2: 174,304,319 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,004,886 (GRCm39) |
*598Q |
probably null |
Het |
| Bcl6 |
T |
A |
16: 23,788,736 (GRCm39) |
D544V |
possibly damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,014,655 (GRCm39) |
D195E |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,026,225 (GRCm39) |
N3S |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,212,097 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
C |
8: 110,948,044 (GRCm39) |
F118S |
probably damaging |
Het |
| Cyp7a1 |
A |
G |
4: 6,268,378 (GRCm39) |
F449S |
probably damaging |
Het |
| Dnah10 |
C |
T |
5: 124,820,693 (GRCm39) |
A509V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,378,865 (GRCm39) |
Q1271L |
probably damaging |
Het |
| Edar |
A |
C |
10: 58,443,274 (GRCm39) |
V284G |
possibly damaging |
Het |
| Fdft1 |
A |
G |
14: 63,388,750 (GRCm39) |
V294A |
probably damaging |
Het |
| Gba1 |
T |
A |
3: 89,112,778 (GRCm39) |
V140E |
probably benign |
Het |
| Gm12185 |
A |
T |
11: 48,806,566 (GRCm39) |
S208R |
probably benign |
Het |
| Gm21028 |
C |
A |
7: 42,227,946 (GRCm39) |
E23* |
probably null |
Het |
| Gm6871 |
A |
G |
7: 41,222,992 (GRCm39) |
L32P |
probably benign |
Het |
| Hhip |
C |
T |
8: 80,724,220 (GRCm39) |
V341M |
probably damaging |
Het |
| Kcnq2 |
C |
A |
2: 180,776,813 (GRCm39) |
V25L |
probably damaging |
Het |
| Krit1 |
C |
A |
5: 3,881,551 (GRCm39) |
H548N |
probably damaging |
Het |
| Kynu |
C |
T |
2: 43,479,406 (GRCm39) |
A100V |
probably benign |
Het |
| Mdp1 |
A |
G |
14: 55,897,806 (GRCm39) |
V9A |
probably damaging |
Het |
| Mllt3 |
T |
C |
4: 87,759,093 (GRCm39) |
I318M |
possibly damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,966,510 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mup8 |
A |
G |
4: 60,222,423 (GRCm39) |
V16A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,235,616 (GRCm39) |
|
probably null |
Het |
| Myh4 |
A |
T |
11: 67,150,150 (GRCm39) |
Q1869L |
probably damaging |
Het |
| Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
| Olfr908 |
CACAACAACA |
CACAACA |
9: 38,427,434 (GRCm39) |
|
probably benign |
Het |
| Or13c7b |
A |
T |
4: 43,821,058 (GRCm39) |
M101K |
probably damaging |
Het |
| Or51h7 |
T |
A |
7: 102,591,719 (GRCm39) |
M22L |
probably benign |
Het |
| Or5d43 |
C |
A |
2: 88,104,976 (GRCm39) |
C139F |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,447,755 (GRCm39) |
F30L |
probably damaging |
Het |
| Pcdhgc3 |
A |
T |
18: 37,941,507 (GRCm39) |
D636V |
possibly damaging |
Het |
| Ppp1cb |
T |
C |
5: 32,643,332 (GRCm39) |
F234L |
probably damaging |
Het |
| Rras2 |
A |
T |
7: 113,649,572 (GRCm39) |
V164E |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,568,583 (GRCm39) |
T390A |
probably damaging |
Het |
| Shh |
C |
A |
5: 28,671,688 (GRCm39) |
C25F |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,856,550 (GRCm39) |
K119R |
unknown |
Het |
| Speg |
G |
T |
1: 75,408,037 (GRCm39) |
R3244L |
possibly damaging |
Het |
| Spns1 |
A |
G |
7: 125,972,936 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
C |
7: 27,059,166 (GRCm39) |
|
probably null |
Het |
| Stap1 |
T |
A |
5: 86,244,375 (GRCm39) |
F214Y |
possibly damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,652,600 (GRCm39) |
M76K |
unknown |
Het |
| Tjp1 |
A |
T |
7: 64,963,059 (GRCm39) |
Y959* |
probably null |
Het |
| Tmprss11e |
A |
T |
5: 86,875,225 (GRCm39) |
C14S |
probably benign |
Het |
| Tnfrsf14 |
T |
C |
4: 155,006,934 (GRCm39) |
|
probably null |
Het |
| Tsfm |
A |
C |
10: 126,847,512 (GRCm39) |
V193G |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,378,371 (GRCm39) |
Y153F |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,175,267 (GRCm39) |
I1122L |
probably benign |
Het |
| Vmn1r74 |
T |
A |
7: 11,580,984 (GRCm39) |
S95T |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,290,015 (GRCm39) |
C517Y |
probably damaging |
Het |
| Vstm2b |
G |
A |
7: 40,550,702 (GRCm39) |
S99N |
possibly damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,327,537 (GRCm39) |
N141S |
probably benign |
Het |
| Zcchc4 |
T |
G |
5: 52,942,512 (GRCm39) |
C106G |
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 |
|
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'- TTGCCTTCTCAGGAGCCTTAG -3'
(R):5'- CTAATGTGGCAACTTACAATGTAGC -3'
Sequencing Primer
(F):5'- AGATTCCCGCTATGTGCAG -3'
(R):5'- TTACAATGTAGCAGGGCTCGC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation