Incidental Mutation 'IGL02604:Lcp1'
| ID |
300199 |
| 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 # |
IGL02604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
75368545-75468282 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75461566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 520
(I520F)
|
| 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: I520F
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: I520F
| 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: I520F
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: I520F
| 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: I520F
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: I520F
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Arfgef1 |
G |
A |
1: 10,251,275 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,850,804 (GRCm39) |
L594* |
probably null |
Het |
| Cacna2d3 |
T |
C |
14: 29,015,066 (GRCm39) |
T375A |
possibly damaging |
Het |
| Calb2 |
A |
C |
8: 110,875,160 (GRCm39) |
Y155D |
probably damaging |
Het |
| Camkmt |
A |
G |
17: 85,404,053 (GRCm39) |
T92A |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,921 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,542,187 (GRCm39) |
S442G |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,151,395 (GRCm39) |
I173V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,896,134 (GRCm39) |
T741A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,428,252 (GRCm39) |
I866T |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,474,778 (GRCm39) |
I138F |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,655,626 (GRCm39) |
|
probably benign |
Het |
| Fsbp |
A |
G |
4: 11,584,147 (GRCm39) |
E282G |
probably damaging |
Het |
| Hpgds |
A |
T |
6: 65,100,594 (GRCm39) |
L128Q |
probably damaging |
Het |
| Hspa9 |
A |
G |
18: 35,087,266 (GRCm39) |
V13A |
unknown |
Het |
| Itgb3 |
A |
G |
11: 104,553,269 (GRCm39) |
E709G |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,027,877 (GRCm39) |
S148P |
probably damaging |
Het |
| Kcna6 |
C |
T |
6: 126,716,167 (GRCm39) |
G241R |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,941 (GRCm39) |
N1541K |
probably benign |
Het |
| Kel |
C |
A |
6: 41,664,516 (GRCm39) |
E640D |
probably damaging |
Het |
| Lgr4 |
A |
G |
2: 109,841,658 (GRCm39) |
I524V |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,970,141 (GRCm39) |
Y139D |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,362 (GRCm39) |
|
probably null |
Het |
| Obox7 |
A |
G |
7: 14,399,293 (GRCm39) |
E173G |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,857 (GRCm39) |
Y168F |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,888,992 (GRCm39) |
C178* |
probably null |
Het |
| Or5w22 |
A |
T |
2: 87,362,949 (GRCm39) |
T191S |
probably damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,148 (GRCm39) |
Q19* |
probably null |
Het |
| Or9i1 |
T |
A |
19: 13,839,170 (GRCm39) |
N4K |
probably benign |
Het |
| Patl2 |
T |
G |
2: 121,955,814 (GRCm39) |
T241P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhg6 |
T |
C |
6: 125,354,342 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,168,375 (GRCm39) |
G344V |
probably damaging |
Het |
| Ppp1r21 |
G |
T |
17: 88,880,171 (GRCm39) |
K529N |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,623,142 (GRCm39) |
S203P |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,000,098 (GRCm39) |
|
probably null |
Het |
| Ptn |
T |
C |
6: 36,692,653 (GRCm39) |
M166V |
unknown |
Het |
| Ptpn13 |
A |
G |
5: 103,649,769 (GRCm39) |
N391D |
probably benign |
Het |
| Rnf214 |
A |
G |
9: 45,780,841 (GRCm39) |
S383P |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,173,348 (GRCm39) |
L438H |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,608 (GRCm39) |
T353A |
probably damaging |
Het |
| Serpinb9e |
A |
C |
13: 33,441,742 (GRCm39) |
I225L |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,503,219 (GRCm39) |
V312A |
probably benign |
Het |
| Tmc3 |
A |
G |
7: 83,271,827 (GRCm39) |
Y993C |
possibly damaging |
Het |
| Trim56 |
A |
C |
5: 137,141,930 (GRCm39) |
C529G |
probably damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,917 (GRCm39) |
S490P |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,652,357 (GRCm39) |
Y147* |
probably null |
Het |
| Vmn2r109 |
T |
A |
17: 20,760,963 (GRCm39) |
H798L |
probably damaging |
Het |
| Vps35 |
A |
G |
8: 86,013,018 (GRCm39) |
L153P |
probably damaging |
Het |
| Wdr82 |
T |
C |
9: 106,060,880 (GRCm39) |
I131T |
probably damaging |
Het |
| Zfp69 |
A |
T |
4: 120,788,660 (GRCm39) |
D218E |
probably benign |
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 |
|
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 |
|
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