Incidental Mutation 'IGL02135:Lcp1'
ID 281305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lcp1
Ensembl Gene ENSMUSG00000021998
Gene Name lymphocyte cytosolic protein 1
Synonyms L-fimbrin, L-plastin, D14Ertd310e, Pls2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02135
Quality Score
Status
Chromosome 14
Chromosomal Location 75368545-75468282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75437926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 112 (V112A)
Ref Sequence ENSEMBL: ENSMUSP00000121376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122840] [ENSMUST00000124499] [ENSMUST00000125833] [ENSMUST00000131802] [ENSMUST00000134114] [ENSMUST00000145303] [ENSMUST00000143539]
AlphaFold Q61233
Predicted Effect probably benign
Transcript: ENSMUST00000122840
SMART Domains Protein: ENSMUSP00000117984
Gene: ENSMUSG00000021998

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 81 7.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124499
AA Change: V112A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121201
Gene: ENSMUSG00000021998
AA Change: V112A

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000116033
Gene: ENSMUSG00000021998

DomainStartEndE-ValueType
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: V112A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117137
Gene: ENSMUSG00000021998
AA Change: V112A

DomainStartEndE-ValueType
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: V112A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121376
Gene: ENSMUSG00000021998
AA Change: V112A

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 81 7.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145303
AA Change: V112A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116271
Gene: ENSMUSG00000021998
AA Change: V112A

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000143539
SMART Domains Protein: ENSMUSP00000118721
Gene: ENSMUSG00000021998

DomainStartEndE-ValueType
EFh 13 41 6.91e-5 SMART
EFh 53 76 4.45e1 SMART
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,949,205 (GRCm39) H1034R possibly damaging Het
Aoc1l1 G A 6: 48,952,498 (GRCm39) R141Q probably benign Het
App A G 16: 84,876,726 (GRCm39) probably null Het
Arhgap23 G T 11: 97,342,528 (GRCm39) R270L probably damaging Het
Arhgap36 T C X: 48,586,066 (GRCm39) I342T possibly damaging Het
Arhgef12 A T 9: 42,883,461 (GRCm39) M1356K possibly damaging Het
Armh4 T C 14: 50,011,386 (GRCm39) K107R probably damaging Het
Asap3 A C 4: 135,968,464 (GRCm39) probably null Het
Atl2 A G 17: 80,167,214 (GRCm39) probably null Het
Cdh20 T A 1: 110,066,004 (GRCm39) Y759* probably null Het
Celsr3 A G 9: 108,704,755 (GRCm39) T413A probably benign Het
Cep97 A T 16: 55,743,330 (GRCm39) I102K probably damaging Het
Ces2a T C 8: 105,466,813 (GRCm39) S441P probably benign Het
Cops2 T C 2: 125,674,163 (GRCm39) T435A probably benign Het
Ctc1 A G 11: 68,911,989 (GRCm39) N56S probably benign Het
Dennd2a G A 6: 39,457,205 (GRCm39) R746* probably null Het
Dnah5 T A 15: 28,248,031 (GRCm39) C723S possibly damaging Het
Dnah7a A C 1: 53,662,632 (GRCm39) V643G probably benign Het
Dnah9 A T 11: 66,008,318 (GRCm39) S836T possibly damaging Het
Edc4 T A 8: 106,612,454 (GRCm39) V164D probably damaging Het
Gcfc2 A T 6: 81,918,381 (GRCm39) D357V probably damaging Het
Grem1 T C 2: 113,580,132 (GRCm39) N123S probably damaging Het
Gria1 T C 11: 57,076,679 (GRCm39) V94A probably damaging Het
Hipk2 G A 6: 38,795,934 (GRCm39) H112Y possibly damaging Het
Il7r T C 15: 9,508,092 (GRCm39) N410S probably benign Het
Insr A T 8: 3,308,741 (GRCm39) S98R probably damaging Het
Klhl7 T A 5: 24,346,279 (GRCm39) Y308* probably null Het
Map2 A T 1: 66,419,920 (GRCm39) R84* probably null Het
Mgst1 A T 6: 138,124,766 (GRCm39) M27L probably damaging Het
Mroh7 A G 4: 106,559,707 (GRCm39) L740P probably damaging Het
Mybpc3 T C 2: 90,955,171 (GRCm39) F507L possibly damaging Het
Nqo2 A T 13: 34,169,326 (GRCm39) K183* probably null Het
Nt5c1b T C 12: 10,427,194 (GRCm39) Y315H probably damaging Het
Odc1 T A 12: 17,597,674 (GRCm39) I48N probably damaging Het
Or2a56 A G 6: 42,932,585 (GRCm39) D51G probably damaging Het
Or7a37 T A 10: 78,805,940 (GRCm39) S152R probably damaging Het
Osbpl5 T A 7: 143,258,862 (GRCm39) D236V probably damaging Het
Prkg1 A G 19: 30,970,476 (GRCm39) Y212H probably benign Het
Pttg1ip T C 10: 77,425,578 (GRCm39) probably null Het
Serpina1f T A 12: 103,659,974 (GRCm39) T103S possibly damaging Het
Skp2 T C 15: 9,125,234 (GRCm39) D115G probably benign Het
Slc25a30 C T 14: 76,004,435 (GRCm39) V221I probably benign Het
Slc7a3 A C X: 100,123,098 (GRCm39) D609E probably benign Het
Strc C T 2: 121,195,315 (GRCm39) G1656D probably damaging Het
Tbc1d8 A G 1: 39,441,891 (GRCm39) F234L probably damaging Het
Tgm7 T G 2: 120,929,519 (GRCm39) I252L possibly damaging Het
Tlr5 A G 1: 182,800,819 (GRCm39) D41G possibly damaging Het
Tns2 T C 15: 102,021,461 (GRCm39) L1034P probably damaging Het
Trim15 A G 17: 37,177,956 (GRCm39) V13A probably benign Het
Uros C T 7: 133,288,734 (GRCm39) V258M possibly damaging Het
Wdr75 A G 1: 45,853,723 (GRCm39) Y378C probably damaging Het
Wdr75 G A 1: 45,856,608 (GRCm39) probably null Het
Wdr82 G T 9: 106,048,443 (GRCm39) R9L possibly damaging Het
Ybx3 G A 6: 131,357,892 (GRCm39) R125C probably damaging Het
Zc3h12b A G X: 94,942,870 (GRCm39) T49A probably benign Het
Zfyve27 G A 19: 42,172,575 (GRCm39) V279M probably damaging Het
Other mutations in Lcp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16