Incidental Mutation 'IGL02185:Lcp1'
| ID |
283603 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lcp1
|
| Ensembl Gene |
ENSMUSG00000021998 |
| Gene Name |
lymphocyte cytosolic protein 1 |
| Synonyms |
L-fimbrin, L-plastin, D14Ertd310e, Pls2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02185
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75368545-75468282 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75466740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 616
(F616L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124499]
[ENSMUST00000131802]
[ENSMUST00000145303]
|
| AlphaFold |
Q61233 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124499
AA Change: F616L
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: F616L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
81 |
7.7e-3 |
SMART |
|
CH
|
122 |
234 |
1.15e-24 |
SMART |
|
CH
|
266 |
373 |
1.51e-19 |
SMART |
|
CH
|
396 |
501 |
1.87e-24 |
SMART |
|
CH
|
517 |
622 |
8.55e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131802
AA Change: F616L
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: F616L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
81 |
7.7e-3 |
SMART |
|
CH
|
122 |
234 |
1.15e-24 |
SMART |
|
CH
|
266 |
373 |
1.51e-19 |
SMART |
|
CH
|
396 |
501 |
1.87e-24 |
SMART |
|
CH
|
517 |
622 |
8.55e-19 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145303
AA Change: F616L
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: F616L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
81 |
7.7e-3 |
SMART |
|
CH
|
122 |
234 |
1.15e-24 |
SMART |
|
CH
|
266 |
373 |
1.51e-19 |
SMART |
|
CH
|
396 |
501 |
1.87e-24 |
SMART |
|
CH
|
517 |
622 |
8.55e-19 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to S. aureus infection, defective neutrophil killing of S. aureus, and impaired adhesion-dependent respiratory bursts in neutrophils. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh5 |
A |
G |
3: 138,156,815 (GRCm39) |
D167G |
probably benign |
Het |
| C9orf72 |
A |
T |
4: 35,197,046 (GRCm39) |
W340R |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,766,471 (GRCm39) |
A359T |
probably benign |
Het |
| Cnnm2 |
T |
C |
19: 46,751,434 (GRCm39) |
V408A |
probably benign |
Het |
| Eloa |
A |
G |
4: 135,740,290 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,772,598 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
G |
14: 120,106,296 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,233,108 (GRCm39) |
I1736F |
possibly damaging |
Het |
| Ifrd2 |
A |
T |
9: 107,468,290 (GRCm39) |
I253F |
probably benign |
Het |
| Kctd7 |
G |
A |
5: 130,181,299 (GRCm39) |
V241I |
possibly damaging |
Het |
| Lyst |
C |
T |
13: 13,835,678 (GRCm39) |
Q1787* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,845,144 (GRCm39) |
T342S |
possibly damaging |
Het |
| Mcph1 |
A |
G |
8: 18,719,006 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,730,571 (GRCm39) |
H868R |
probably benign |
Het |
| Mefv |
T |
C |
16: 3,533,714 (GRCm39) |
T186A |
probably benign |
Het |
| Nol9 |
T |
A |
4: 152,142,368 (GRCm39) |
I666N |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,597,721 (GRCm39) |
N16K |
probably damaging |
Het |
| Or6c205 |
G |
T |
10: 129,086,904 (GRCm39) |
C167F |
possibly damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,798,955 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
A |
C |
14: 52,349,685 (GRCm39) |
K24N |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,797,548 (GRCm39) |
T122S |
probably damaging |
Het |
| Sfn |
A |
G |
4: 133,328,636 (GRCm39) |
S149P |
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,675,584 (GRCm39) |
V81A |
probably benign |
Het |
| Trav21-dv12 |
A |
T |
14: 54,113,955 (GRCm39) |
D25V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,598,878 (GRCm39) |
H11018R |
possibly damaging |
Het |
| Txn1 |
A |
T |
4: 57,950,883 (GRCm39) |
Y49N |
probably benign |
Het |
| Ulk2 |
C |
T |
11: 61,672,886 (GRCm39) |
A903T |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,444,360 (GRCm39) |
M4I |
unknown |
Het |
| Vmn2r85 |
G |
T |
10: 130,254,561 (GRCm39) |
L708I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vrk2 |
T |
A |
11: 26,485,638 (GRCm39) |
R117* |
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,712,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
C |
A |
17: 5,803,157 (GRCm39) |
T420K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,228,869 (GRCm39) |
|
probably benign |
Het |
| Zfp958 |
T |
A |
8: 4,678,990 (GRCm39) |
C338* |
probably null |
Het |
|
| Other mutations in Lcp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01103:Lcp1
|
APN |
14 |
75,464,533 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01768:Lcp1
|
APN |
14 |
75,461,573 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01801:Lcp1
|
APN |
14 |
75,436,815 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01940:Lcp1
|
APN |
14 |
75,453,805 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02135:Lcp1
|
APN |
14 |
75,437,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02478:Lcp1
|
APN |
14 |
75,461,536 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02604:Lcp1
|
APN |
14 |
75,461,566 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0244:Lcp1
|
UTSW |
14 |
75,464,441 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0295:Lcp1
|
UTSW |
14 |
75,436,860 (GRCm39) |
missense |
probably null |
0.59 |
|
R0313:Lcp1
|
UTSW |
14 |
75,436,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Lcp1
|
UTSW |
14 |
75,464,446 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0751:Lcp1
|
UTSW |
14 |
75,436,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0811:Lcp1
|
UTSW |
14 |
75,451,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0812:Lcp1
|
UTSW |
14 |
75,451,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1200:Lcp1
|
UTSW |
14 |
75,466,742 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1713:Lcp1
|
UTSW |
14 |
75,436,884 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1915:Lcp1
|
UTSW |
14 |
75,436,737 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1969:Lcp1
|
UTSW |
14 |
75,437,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Lcp1
|
UTSW |
14 |
75,437,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Lcp1
|
UTSW |
14 |
75,437,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Lcp1
|
UTSW |
14 |
75,437,841 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2064:Lcp1
|
UTSW |
14 |
75,435,515 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3949:Lcp1
|
UTSW |
14 |
75,443,569 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4062:Lcp1
|
UTSW |
14 |
75,452,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Lcp1
|
UTSW |
14 |
75,452,608 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4811:Lcp1
|
UTSW |
14 |
75,437,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4854:Lcp1
|
UTSW |
14 |
75,437,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4974:Lcp1
|
UTSW |
14 |
75,445,911 (GRCm39) |
nonsense |
probably null |
|
|
R5539:Lcp1
|
UTSW |
14 |
75,466,738 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5561:Lcp1
|
UTSW |
14 |
75,449,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5724:Lcp1
|
UTSW |
14 |
75,464,422 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5989:Lcp1
|
UTSW |
14 |
75,436,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6731:Lcp1
|
UTSW |
14 |
75,443,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Lcp1
|
UTSW |
14 |
75,447,946 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7670:Lcp1
|
UTSW |
14 |
75,437,871 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7698:Lcp1
|
UTSW |
14 |
75,443,651 (GRCm39) |
nonsense |
probably null |
|
|
R9780:Lcp1
|
UTSW |
14 |
75,440,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
S24628:Lcp1
|
UTSW |
14 |
75,464,446 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0027:Lcp1
|
UTSW |
14 |
75,464,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation