Incidental Mutation 'R5724:Lcp1'
| ID |
452402 |
| 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 |
043342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75368545-75468282 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75464422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 548
(T548A)
|
| 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: T548A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: T548A
| 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: T548A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: T548A
| 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: T548A
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: T548A
| 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 |
|
| Meta Mutation Damage Score |
0.0863 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830408C21Rik |
A |
T |
13: 107,168,905 (GRCm39) |
|
noncoding transcript |
Het |
| Adam5 |
T |
A |
8: 25,294,511 (GRCm39) |
K363* |
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,286,836 (GRCm39) |
Y814H |
probably benign |
Het |
| Adar |
G |
T |
3: 89,642,476 (GRCm39) |
G119V |
probably benign |
Het |
| Adprs |
G |
T |
4: 126,211,869 (GRCm39) |
Q148K |
probably damaging |
Het |
| Atr |
G |
T |
9: 95,748,641 (GRCm39) |
L395F |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,192 (GRCm39) |
I1946V |
possibly damaging |
Het |
| Bend4 |
T |
A |
5: 67,575,284 (GRCm39) |
D199V |
probably damaging |
Het |
| Bpifb1 |
C |
A |
2: 154,046,712 (GRCm39) |
H77Q |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,714,833 (GRCm39) |
T595A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,905,499 (GRCm39) |
|
probably benign |
Het |
| Cxcl16 |
T |
C |
11: 70,349,990 (GRCm39) |
D12G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,819,090 (GRCm39) |
W459R |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,099,785 (GRCm39) |
L636P |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,853,824 (GRCm39) |
T197A |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,692 (GRCm39) |
R139S |
probably benign |
Het |
| Fer |
C |
A |
17: 64,231,152 (GRCm39) |
T301K |
probably damaging |
Het |
| Fgf21 |
A |
T |
7: 45,264,729 (GRCm39) |
M1K |
probably null |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
A |
T |
6: 130,459,963 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
C |
17: 35,644,628 (GRCm39) |
Y139S |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,808,074 (GRCm39) |
D146G |
probably benign |
Het |
| Igkv4-53 |
A |
T |
6: 69,625,991 (GRCm39) |
Y59N |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,891 (GRCm39) |
M257V |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Klhl26 |
T |
A |
8: 70,904,404 (GRCm39) |
Y468F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,357,950 (GRCm39) |
|
probably null |
Het |
| Lct |
T |
A |
1: 128,228,073 (GRCm39) |
Q1140L |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,281,726 (GRCm39) |
N3882H |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,657,852 (GRCm39) |
I1126T |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,722,682 (GRCm39) |
S399P |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,731,243 (GRCm39) |
C825R |
probably damaging |
Het |
| Mtx3 |
C |
T |
13: 92,984,095 (GRCm39) |
P124L |
probably damaging |
Het |
| Nabp2 |
C |
T |
10: 128,245,555 (GRCm39) |
|
probably benign |
Het |
| Or5b113 |
T |
A |
19: 13,342,515 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Pak4 |
A |
T |
7: 28,264,005 (GRCm39) |
S244T |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,869,900 (GRCm39) |
V307I |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,233 (GRCm39) |
D506G |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,755,481 (GRCm39) |
V26A |
probably damaging |
Het |
| Ppp2r3c |
A |
T |
12: 55,344,617 (GRCm39) |
M117K |
probably benign |
Het |
| Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
| Pspc1 |
C |
T |
14: 57,015,529 (GRCm39) |
E30K |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,990,231 (GRCm39) |
S448G |
possibly damaging |
Het |
| Rnf34 |
C |
T |
5: 123,004,952 (GRCm39) |
Q241* |
probably null |
Het |
| Sgta |
A |
T |
10: 80,883,522 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Siglech |
A |
G |
7: 55,418,293 (GRCm39) |
N87S |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,094,113 (GRCm39) |
I392T |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,841,174 (GRCm39) |
M21K |
probably benign |
Het |
| Sugp1 |
C |
T |
8: 70,522,799 (GRCm39) |
R500C |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,899,339 (GRCm39) |
K5E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,813,668 (GRCm39) |
V235I |
possibly damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,346 (GRCm39) |
N413I |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Zfp60 |
A |
G |
7: 27,447,758 (GRCm39) |
Y142C |
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 |
|
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 |
|
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'- AGCATCTATTGTGACCCAGCC -3'
(R):5'- GTAATTTGTACAAGGCACAAACACC -3'
Sequencing Primer
(F):5'- ATTGTGACCCAGCCTACCTG -3'
(R):5'- TTGTACAAGGCACAAACACCAGATTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation