Incidental Mutation 'IGL01940:Lcp1'
| ID |
180847 |
| 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 # |
IGL01940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75368545-75468282 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75453805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 469
(N469I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124499]
[ENSMUST00000131802]
[ENSMUST00000145303]
|
| AlphaFold |
Q61233 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124499
AA Change: N469I
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: N469I
| 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 |
probably benign
Transcript: ENSMUST00000131802
AA Change: N469I
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: N469I
| 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 |
probably benign
Transcript: ENSMUST00000145303
AA Change: N469I
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: N469I
| 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 |
|---|
| Abca13 |
T |
C |
11: 9,517,661 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,983,921 (GRCm39) |
D1735V |
probably benign |
Het |
| Alkbh3 |
G |
A |
2: 93,811,940 (GRCm39) |
T231I |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,885,431 (GRCm39) |
V344A |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,792 (GRCm39) |
D907V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,452,737 (GRCm39) |
M582K |
probably benign |
Het |
| Csf2 |
G |
T |
11: 54,140,351 (GRCm39) |
P29H |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,758 (GRCm39) |
R196H |
probably benign |
Het |
| Dagla |
A |
G |
19: 10,229,535 (GRCm39) |
V575A |
probably benign |
Het |
| Dimt1 |
T |
A |
13: 107,085,206 (GRCm39) |
|
probably benign |
Het |
| Ei24 |
A |
T |
9: 36,693,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Fam107a |
T |
C |
14: 8,298,766 (GRCm38) |
H120R |
probably benign |
Het |
| Fancl |
G |
T |
11: 26,409,752 (GRCm39) |
V203F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,925,512 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
A |
G |
12: 95,747,012 (GRCm39) |
Y450C |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,864,332 (GRCm39) |
|
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,683 (GRCm39) |
S253G |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,257 (GRCm39) |
Y294C |
probably damaging |
Het |
| Odam |
C |
A |
5: 88,035,192 (GRCm39) |
S52Y |
possibly damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,177 (GRCm39) |
T240I |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,154 (GRCm39) |
N200I |
probably damaging |
Het |
| Or51i2 |
A |
G |
7: 103,689,129 (GRCm39) |
N42S |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,798,720 (GRCm39) |
R2676L |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,064,529 (GRCm39) |
D1915G |
probably damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,519,764 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ptk2b |
A |
G |
14: 66,396,062 (GRCm39) |
I802T |
probably benign |
Het |
| Rabgap1 |
G |
T |
2: 37,377,079 (GRCm39) |
A304S |
probably damaging |
Het |
| Sema3f |
T |
C |
9: 107,560,896 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
A |
T |
1: 106,973,915 (GRCm39) |
V332E |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,165,793 (GRCm39) |
M370K |
probably benign |
Het |
| Slc25a1 |
T |
A |
16: 17,744,304 (GRCm39) |
Y209F |
probably benign |
Het |
| Smim15 |
A |
G |
13: 108,184,164 (GRCm39) |
K57E |
probably damaging |
Het |
| Taar3 |
T |
A |
10: 23,825,855 (GRCm39) |
C134S |
probably damaging |
Het |
| Tns4 |
C |
T |
11: 98,959,047 (GRCm39) |
S684N |
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,487,071 (GRCm39) |
V608A |
probably benign |
Het |
| Zbtb26 |
A |
T |
2: 37,325,987 (GRCm39) |
C350S |
possibly damaging |
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 |
|
IGL02135:Lcp1
|
APN |
14 |
75,437,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02185:Lcp1
|
APN |
14 |
75,466,740 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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 |
2014-05-07 |
Incidental Mutation