Incidental Mutation 'R0295:Lcp1'
| ID |
37707 |
| 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 |
038512-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0295 (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 75436860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 69
(I69V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118721
(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: I69V
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000117984
Gene: ENSMUSG00000021998
AA Change: I69V
| 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: I69V
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: I69V
| 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 |
possibly damaging
Transcript: ENSMUST00000125833
AA Change: I69V
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116033
Gene: ENSMUSG00000021998
AA Change: I69V
| 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: I69V
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: I69V
| 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 |
possibly damaging
Transcript: ENSMUST00000134114
AA Change: I69V
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121376
Gene: ENSMUSG00000021998
AA Change: I69V
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
13 |
41 |
6.91e-5 |
SMART |
|
EFh
|
53 |
81 |
7.7e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143539
AA Change: I69V
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118721
Gene: ENSMUSG00000021998
AA Change: I69V
| 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: I69V
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: I69V
| 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 |
0.1739 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
G |
A |
10: 76,290,642 (GRCm39) |
S127N |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,767,478 (GRCm39) |
R953G |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,197,213 (GRCm39) |
|
probably null |
Het |
| Adh4 |
A |
G |
3: 138,134,837 (GRCm39) |
D337G |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,052,181 (GRCm39) |
Y1207* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,920,357 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,366,298 (GRCm39) |
I1065T |
probably benign |
Het |
| Cacna1i |
T |
A |
15: 80,240,412 (GRCm39) |
L378Q |
probably damaging |
Het |
| Ccdc127 |
C |
A |
13: 74,504,989 (GRCm39) |
P179H |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,321,655 (GRCm39) |
K586N |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,373,683 (GRCm39) |
E1321A |
probably damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,112,939 (GRCm39) |
I173N |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,921,414 (GRCm39) |
K682E |
possibly damaging |
Het |
| Cux1 |
A |
C |
5: 136,342,066 (GRCm39) |
V442G |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,748,127 (GRCm39) |
V150E |
possibly damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,238 (GRCm39) |
D331G |
probably benign |
Het |
| Fbxo42 |
A |
G |
4: 140,927,808 (GRCm39) |
D696G |
probably damaging |
Het |
| Fbxo8 |
G |
A |
8: 57,043,109 (GRCm39) |
D198N |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,793,840 (GRCm39) |
T73A |
possibly damaging |
Het |
| H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
| Ifng |
G |
T |
10: 118,277,154 (GRCm39) |
S32I |
possibly damaging |
Het |
| Ildr1 |
A |
G |
16: 36,529,839 (GRCm39) |
|
probably null |
Het |
| Knl1 |
A |
C |
2: 118,919,320 (GRCm39) |
D1824A |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,519,858 (GRCm39) |
Y108* |
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,434,656 (GRCm39) |
V1349E |
probably benign |
Het |
| Lrrcc1 |
A |
T |
3: 14,630,909 (GRCm39) |
E1009D |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Med14 |
G |
C |
X: 12,551,987 (GRCm39) |
R1223G |
probably damaging |
Het |
| Mesd |
C |
T |
7: 83,547,073 (GRCm39) |
Q179* |
probably null |
Het |
| Myh7 |
A |
G |
14: 55,222,278 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,861 (GRCm39) |
I804T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,174,297 (GRCm39) |
I1521V |
possibly damaging |
Het |
| Nosip |
T |
A |
7: 44,726,340 (GRCm39) |
I249N |
probably damaging |
Het |
| Nostrin |
A |
C |
2: 69,009,760 (GRCm39) |
E296A |
probably benign |
Het |
| Oprk1 |
T |
C |
1: 5,669,073 (GRCm39) |
L173S |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,182 (GRCm39) |
I45F |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,499 (GRCm39) |
V225D |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5p1 |
T |
G |
7: 107,916,892 (GRCm39) |
S264A |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,511 (GRCm39) |
V328A |
probably benign |
Het |
| Podxl2 |
A |
T |
6: 88,826,660 (GRCm39) |
S215R |
probably benign |
Het |
| Prss36 |
T |
G |
7: 127,535,027 (GRCm39) |
T418P |
possibly damaging |
Het |
| Ralgps2 |
T |
A |
1: 156,651,555 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,427,863 (GRCm39) |
|
probably null |
Het |
| Rgs1 |
A |
T |
1: 144,121,224 (GRCm39) |
I149N |
probably damaging |
Het |
| Rgs16 |
A |
G |
1: 153,619,483 (GRCm39) |
E163G |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,684,553 (GRCm39) |
F120S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,169 (GRCm39) |
Y823* |
probably null |
Het |
| Spdl1 |
A |
T |
11: 34,704,170 (GRCm39) |
N554K |
possibly damaging |
Het |
| St6gal1 |
T |
A |
16: 23,174,953 (GRCm39) |
|
probably benign |
Het |
| Tet3 |
G |
A |
6: 83,346,121 (GRCm39) |
P1304S |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,372 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
T |
A |
5: 120,677,125 (GRCm39) |
I687F |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,152,420 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
T |
A |
7: 67,319,600 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,045,540 (GRCm39) |
V586L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,588,955 (GRCm39) |
|
probably benign |
Het |
| Uba3 |
A |
T |
6: 97,168,544 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Usp32 |
A |
G |
11: 84,944,518 (GRCm39) |
S316P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,860,310 (GRCm39) |
I352M |
probably benign |
Het |
| Zcwpw1 |
G |
T |
5: 137,815,734 (GRCm39) |
L412F |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,281 (GRCm39) |
N2254K |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,543 (GRCm39) |
S138P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACAGATACCGATGGCAACG -3'
(R):5'- TGCCTTAGGTTCCCAAGGGCAG -3'
Sequencing Primer
(F):5'- TACCGATGGCAACGGATAC -3'
(R):5'- tgaacctctgaaactgtaagcc -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation