Incidental Mutation 'R0751:Lcp1'
| ID |
70358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lcp1
|
| Ensembl Gene |
ENSMUSG00000021998 |
| Gene Name |
lymphocyte cytosolic protein 1 |
| Synonyms |
L-fimbrin, L-plastin, D14Ertd310e, Pls2 |
| MMRRC Submission |
038931-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75368545-75468282 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75436827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 58
(M58L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122840]
[ENSMUST00000124499]
[ENSMUST00000125833]
[ENSMUST00000131802]
[ENSMUST00000134114]
[ENSMUST00000143539]
[ENSMUST00000145303]
|
| AlphaFold |
Q61233 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122840
AA Change: M58L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117984
Gene: ENSMUSG00000021998
AA Change: M58L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
81 |
7.7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124499
AA Change: M58L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: M58L
| 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: ENSMUST00000125833
AA Change: M58L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116033
Gene: ENSMUSG00000021998
AA Change: M58L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
81 |
7.7e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130510
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131802
AA Change: M58L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: M58L
| 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: ENSMUST00000134114
AA Change: M58L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121376
Gene: ENSMUSG00000021998
AA Change: M58L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
81 |
7.7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143539
AA Change: M58L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118721
Gene: ENSMUSG00000021998
AA Change: M58L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
76 |
4.45e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145303
AA Change: M58L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: M58L
| 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 |
noncoding transcript
Transcript: ENSMUST00000149883
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161819
|
| Meta Mutation Damage Score |
0.0857 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
A |
4: 132,792,707 (GRCm39) |
M1316K |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,776 (GRCm39) |
I455V |
probably benign |
Het |
| Ankrd28 |
A |
G |
14: 31,486,225 (GRCm39) |
L89P |
probably damaging |
Het |
| Aqp9 |
A |
T |
9: 71,045,487 (GRCm39) |
C41S |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,913,913 (GRCm39) |
Y199C |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,384,636 (GRCm39) |
|
probably benign |
Het |
| Cacfd1 |
T |
C |
2: 26,908,993 (GRCm39) |
|
probably null |
Het |
| Cd33 |
T |
C |
7: 43,181,545 (GRCm39) |
D205G |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,577,258 (GRCm39) |
S198G |
probably benign |
Het |
| Chtf8 |
A |
G |
8: 107,613,109 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
G |
T |
6: 122,989,671 (GRCm39) |
W104L |
probably benign |
Het |
| Clock |
A |
T |
5: 76,377,208 (GRCm39) |
I696K |
possibly damaging |
Het |
| Crtc2 |
T |
A |
3: 90,169,940 (GRCm39) |
Y445* |
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,844,112 (GRCm39) |
I44F |
probably damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,270,204 (GRCm39) |
|
probably null |
Het |
| Derl2 |
T |
C |
11: 70,905,373 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
G |
1: 46,505,065 (GRCm39) |
T154A |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,516,762 (GRCm39) |
|
probably null |
Het |
| Dusp3 |
A |
T |
11: 101,872,554 (GRCm39) |
S106T |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,730,079 (GRCm39) |
V897A |
probably damaging |
Het |
| Eif3l |
T |
A |
15: 78,959,966 (GRCm39) |
|
probably null |
Het |
| Fbxo33 |
A |
C |
12: 59,265,878 (GRCm39) |
F130V |
probably damaging |
Het |
| Ffar3 |
T |
A |
7: 30,554,529 (GRCm39) |
N264Y |
probably damaging |
Het |
| Fig4 |
T |
C |
10: 41,148,978 (GRCm39) |
D158G |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,648,218 (GRCm39) |
F1239L |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,249,442 (GRCm39) |
|
probably benign |
Het |
| Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,234,452 (GRCm39) |
D581G |
probably damaging |
Het |
| Ift70a2 |
C |
T |
2: 75,808,375 (GRCm39) |
A46T |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,375,321 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
T |
C |
13: 9,216,345 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,146,362 (GRCm39) |
V392A |
possibly damaging |
Het |
| Mavs |
A |
T |
2: 131,088,684 (GRCm39) |
Y496F |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,897 (GRCm39) |
S102T |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,893,693 (GRCm39) |
R161W |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,458,747 (GRCm39) |
S161C |
probably damaging |
Het |
| Napg |
T |
G |
18: 63,127,409 (GRCm39) |
H204Q |
probably benign |
Het |
| Nelfcd |
C |
A |
2: 174,264,807 (GRCm39) |
A182D |
probably benign |
Het |
| Ntsr2 |
G |
T |
12: 16,704,031 (GRCm39) |
K91N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,972,645 (GRCm39) |
S2134P |
probably damaging |
Het |
| Ogfod2 |
G |
A |
5: 124,251,539 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
G |
A |
7: 139,903,238 (GRCm39) |
V209I |
probably benign |
Het |
| Or1e26 |
G |
T |
11: 73,479,970 (GRCm39) |
T198K |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,127,123 (GRCm39) |
V535A |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,822,866 (GRCm39) |
|
probably null |
Het |
| Pimreg |
C |
A |
11: 71,933,939 (GRCm39) |
Q22K |
probably benign |
Het |
| Pld5 |
A |
G |
1: 175,872,462 (GRCm39) |
I225T |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,667,195 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,677,377 (GRCm39) |
C306* |
probably null |
Het |
| Ptprc |
A |
G |
1: 138,020,668 (GRCm39) |
Y588H |
probably damaging |
Het |
| Rac2 |
T |
G |
15: 78,450,145 (GRCm39) |
D65A |
possibly damaging |
Het |
| Rgl3 |
A |
G |
9: 21,888,676 (GRCm39) |
|
probably null |
Het |
| Serpinb1a |
T |
C |
13: 33,027,199 (GRCm39) |
K248E |
probably benign |
Het |
| Serpinb9e |
A |
C |
13: 33,443,757 (GRCm39) |
E259A |
probably benign |
Het |
| Slc12a4 |
A |
T |
8: 106,678,532 (GRCm39) |
V266E |
probably damaging |
Het |
| Slc8b1 |
A |
G |
5: 120,662,260 (GRCm39) |
|
probably benign |
Het |
| Spink6 |
T |
C |
18: 44,204,605 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,012,256 (GRCm39) |
R354H |
probably damaging |
Het |
| Ssb |
T |
A |
2: 69,700,909 (GRCm39) |
S330T |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,527,966 (GRCm39) |
V1408F |
probably benign |
Het |
| Sumf2 |
A |
T |
5: 129,878,846 (GRCm39) |
T61S |
probably benign |
Het |
| Sypl2 |
T |
C |
3: 108,124,072 (GRCm39) |
T157A |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,287,749 (GRCm39) |
D483E |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,769,563 (GRCm39) |
N451S |
possibly damaging |
Het |
| Tradd |
T |
C |
8: 105,986,403 (GRCm39) |
E123G |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,329,318 (GRCm39) |
T41A |
probably damaging |
Het |
| Ttll7 |
C |
T |
3: 146,645,746 (GRCm39) |
P535S |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,164,509 (GRCm39) |
|
probably benign |
Het |
| Uqcc5 |
G |
T |
14: 30,810,953 (GRCm39) |
|
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,181 (GRCm39) |
Y217C |
probably damaging |
Het |
| Vmn2r63 |
A |
C |
7: 42,577,459 (GRCm39) |
F360V |
probably damaging |
Het |
| Vmn2r78 |
G |
A |
7: 86,603,588 (GRCm39) |
V589M |
possibly damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,833 (GRCm39) |
Y630C |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,433,331 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGTTTCTGCCTCTATCTGGGTC -3'
(R):5'- CTGTACCAACGAGCCAGGAAGG -3'
Sequencing Primer
(F):5'- AGACCCATGCCTGGTCATC -3'
(R):5'- AAGGGACGGATCGCCTC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation