Incidental Mutation 'R4811:Lcp1'
| ID |
369462 |
| 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 |
042430-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4811 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75368545-75468282 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75437848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 86
(V86A)
|
| 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 damaging
Transcript: ENSMUST00000122840
AA Change: V86A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117984
Gene: ENSMUSG00000021998
AA Change: V86A
| 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: V86A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: V86A
| 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: V86A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116033
Gene: ENSMUSG00000021998
AA Change: V86A
| 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: V86A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: V86A
| 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: V86A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121376
Gene: ENSMUSG00000021998
AA Change: V86A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118721
Gene: ENSMUSG00000021998
| 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: V86A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: V86A
| 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: ENSMUST00000161819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149883
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
G |
A |
15: 37,425,952 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
C |
T |
8: 25,201,740 (GRCm39) |
G208R |
probably benign |
Het |
| Arsg |
G |
T |
11: 109,424,898 (GRCm39) |
V290L |
probably benign |
Het |
| Cad |
A |
G |
5: 31,232,034 (GRCm39) |
T104A |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,928,020 (GRCm39) |
N1185S |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,877 (GRCm39) |
T113A |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,133,618 (GRCm39) |
A967T |
probably damaging |
Het |
| Cyp4f16 |
A |
G |
17: 32,764,080 (GRCm39) |
T291A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,432,554 (GRCm39) |
H1300L |
probably benign |
Het |
| Ddx23 |
T |
A |
15: 98,545,352 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
G |
7: 105,363,488 (GRCm39) |
S4017A |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,293,703 (GRCm39) |
F729L |
probably damaging |
Het |
| Ercc6 |
G |
T |
14: 32,296,886 (GRCm39) |
R1292L |
probably benign |
Het |
| Fam186b |
C |
T |
15: 99,178,118 (GRCm39) |
V403M |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,499,628 (GRCm39) |
N576D |
possibly damaging |
Het |
| Fbln1 |
A |
G |
15: 85,111,167 (GRCm39) |
|
probably null |
Het |
| Fbxw17 |
T |
C |
13: 50,579,669 (GRCm39) |
V162A |
probably benign |
Het |
| Gas2l1 |
A |
C |
11: 5,014,436 (GRCm39) |
I8S |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,711,781 (GRCm39) |
L195P |
probably damaging |
Het |
| Gps2 |
A |
T |
11: 69,806,754 (GRCm39) |
H233L |
probably damaging |
Het |
| Guf1 |
T |
G |
5: 69,721,852 (GRCm39) |
|
probably null |
Het |
| H2-T9 |
A |
G |
17: 36,438,668 (GRCm39) |
L241S |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,519,988 (GRCm39) |
|
probably null |
Het |
| Ints14 |
A |
G |
9: 64,871,800 (GRCm39) |
Y46C |
probably damaging |
Het |
| Kalrn |
T |
G |
16: 34,177,339 (GRCm39) |
Q293H |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,687,043 (GRCm39) |
L593P |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,174 (GRCm39) |
T297A |
possibly damaging |
Het |
| Lins1 |
T |
A |
7: 66,357,898 (GRCm39) |
I11K |
probably benign |
Het |
| Lrba |
T |
C |
3: 86,683,448 (GRCm39) |
F2757L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,951,685 (GRCm39) |
I3762T |
probably benign |
Het |
| Lyzl6 |
A |
G |
11: 103,525,851 (GRCm39) |
S90P |
possibly damaging |
Het |
| Mfsd2a |
T |
A |
4: 122,853,175 (GRCm39) |
Q38L |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,922 (GRCm39) |
F546S |
probably damaging |
Het |
| Myo5a |
G |
A |
9: 75,048,825 (GRCm39) |
|
probably null |
Het |
| Naip6 |
C |
A |
13: 100,422,299 (GRCm39) |
G1245W |
probably damaging |
Het |
| Ndfip1 |
C |
T |
18: 38,584,645 (GRCm39) |
T107I |
probably benign |
Het |
| Nek8 |
C |
T |
11: 78,058,544 (GRCm39) |
|
probably null |
Het |
| Nphs1 |
T |
C |
7: 30,159,854 (GRCm39) |
V55A |
probably damaging |
Het |
| Nrp2 |
C |
A |
1: 62,758,240 (GRCm39) |
H75Q |
probably damaging |
Het |
| Oas1e |
C |
T |
5: 120,933,448 (GRCm39) |
S39N |
probably damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,166 (GRCm39) |
T52A |
probably benign |
Het |
| Or2y1e |
T |
G |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
| Or5d37 |
A |
G |
2: 87,923,876 (GRCm39) |
F135L |
probably benign |
Het |
| Or7h8 |
A |
T |
9: 20,124,049 (GRCm39) |
I135F |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,868 (GRCm39) |
H632Q |
probably damaging |
Het |
| Paqr3 |
A |
C |
5: 97,243,842 (GRCm39) |
S291A |
probably benign |
Het |
| Pcdh17 |
A |
C |
14: 84,685,375 (GRCm39) |
D614A |
probably damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,830,606 (GRCm39) |
E422G |
possibly damaging |
Het |
| Pgr |
G |
T |
9: 8,900,844 (GRCm39) |
E126* |
probably null |
Het |
| Pik3ap1 |
A |
G |
19: 41,290,936 (GRCm39) |
V532A |
possibly damaging |
Het |
| Pla2g4c |
T |
C |
7: 13,071,738 (GRCm39) |
I186T |
probably damaging |
Het |
| Pnkd |
G |
A |
1: 74,388,564 (GRCm39) |
|
probably null |
Het |
| Poc1a |
A |
G |
9: 106,226,908 (GRCm39) |
T334A |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,797,111 (GRCm39) |
K211* |
probably null |
Het |
| Rdh13 |
T |
C |
7: 4,445,652 (GRCm39) |
E94G |
probably benign |
Het |
| Rnf186 |
A |
G |
4: 138,694,498 (GRCm39) |
S13G |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,670,584 (GRCm39) |
R3471G |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,971,742 (GRCm39) |
T831A |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,316,403 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,082,404 (GRCm39) |
N408S |
probably benign |
Het |
| Snn |
T |
C |
16: 10,890,397 (GRCm39) |
V72A |
probably benign |
Het |
| Sys1 |
T |
A |
2: 164,306,344 (GRCm39) |
H99Q |
possibly damaging |
Het |
| Syt7 |
A |
G |
19: 10,412,931 (GRCm39) |
K122R |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,396,311 (GRCm39) |
L550Q |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,681 (GRCm39) |
L184P |
probably benign |
Het |
| Thoc1 |
T |
C |
18: 9,993,438 (GRCm39) |
I599T |
probably damaging |
Het |
| Tle3 |
C |
T |
9: 61,281,279 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
A |
C |
8: 64,538,507 (GRCm39) |
V379G |
possibly damaging |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,621 (GRCm39) |
E78K |
probably benign |
Het |
| Tpgs2 |
A |
G |
18: 25,262,897 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,858,054 (GRCm39) |
L165P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,633,956 (GRCm39) |
Y750C |
probably damaging |
Het |
| Ttbk2 |
A |
C |
2: 120,570,551 (GRCm39) |
S1201A |
possibly damaging |
Het |
| Ust |
T |
A |
10: 8,121,705 (GRCm39) |
H301L |
probably damaging |
Het |
| Vwa5a |
T |
C |
9: 38,647,249 (GRCm39) |
F543L |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,971,645 (GRCm39) |
|
probably null |
Het |
| Zfp85 |
T |
C |
13: 67,897,745 (GRCm39) |
Y109C |
probably damaging |
Het |
| Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
Het |
| Znrf3 |
A |
T |
11: 5,237,420 (GRCm39) |
C134S |
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 |
|
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'- CTAAGGCAAGAGGATTTGGGGT -3'
(R):5'- AGACAGCTGGGTCCTTCCTC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CCTCACTGTATCCTTTGCCAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation