Incidental Mutation 'R5989:Lcp1'
| ID |
481898 |
| 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 |
044169-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Drgx |
A |
G |
14: 32,330,145 (GRCm39) |
N116S |
probably benign |
Het |
| Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,721 (GRCm39) |
R97G |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
| Ipcef1 |
A |
T |
10: 6,929,532 (GRCm39) |
Y69* |
probably null |
Het |
| Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,536,902 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,944,455 (GRCm39) |
L60P |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
| Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
| Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
| Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
| Tmem200c |
G |
T |
17: 69,144,431 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,699 (GRCm39) |
P556L |
probably 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 |
|
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 |
|
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 |
|
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'- TGCCTCTATCTGGGTCAGAC -3'
(R):5'- AGCTGTAGTCAAGGAAACCAC -3'
Sequencing Primer
(F):5'- AGACCCATGCCTGGTCATC -3'
(R):5'- CAAAGGTAAGAACTGTACCAACG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation