Incidental Mutation 'IGL02986:Picalm'
ID406741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Picalm
Ensembl Gene ENSMUSG00000039361
Gene Namephosphatidylinositol binding clathrin assembly protein
Synonymsfit-1, fit1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.902) question?
Stock #IGL02986
Quality Score
Status
Chromosome7
Chromosomal Location90130213-90213465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90207585 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 649 (I649M)
Ref Sequence ENSEMBL: ENSMUSP00000147016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049537] [ENSMUST00000207084] [ENSMUST00000207225] [ENSMUST00000207484] [ENSMUST00000208730] [ENSMUST00000208742] [ENSMUST00000209068]
Predicted Effect probably benign
Transcript: ENSMUST00000049537
AA Change: I652M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: I652M

DomainStartEndE-ValueType
ENTH 20 145 2.42e-39 SMART
coiled coil region 317 349 N/A INTRINSIC
low complexity region 378 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207084
AA Change: I528M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207225
AA Change: I594M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000207484
AA Change: I657M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207847
Predicted Effect probably benign
Transcript: ENSMUST00000208089
Predicted Effect probably benign
Transcript: ENSMUST00000208730
AA Change: I602M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208742
AA Change: I649M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000209068
AA Change: I607M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for different ENU-induced mutations or knock-out alleles are small, runted and display anemia of variable severity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,178,854 V264A possibly damaging Het
Akr1c6 G T 13: 4,436,415 V74L probably benign Het
Atp10a T G 7: 58,828,721 V1504G probably benign Het
Ccng1 A G 11: 40,750,863 probably benign Het
Celsr3 A T 9: 108,841,255 probably null Het
Coro1b T C 19: 4,149,471 V43A possibly damaging Het
Dab1 A G 4: 104,479,221 T5A probably benign Het
Dennd5a C T 7: 109,935,524 A47T probably benign Het
Dgkb A G 12: 38,100,400 T69A possibly damaging Het
Dhx37 G A 5: 125,419,315 P721L probably damaging Het
Efr3b T C 12: 3,966,495 N641D probably benign Het
Espnl A T 1: 91,344,850 Q600L probably benign Het
Esyt1 A G 10: 128,516,757 V693A probably damaging Het
Fscn2 A G 11: 120,367,350 D366G possibly damaging Het
Gcsam C A 16: 45,620,003 F136L probably benign Het
Gm10643 A T 8: 84,064,258 probably benign Het
Habp2 A T 19: 56,311,192 D174V probably benign Het
Hgfac T C 5: 35,043,863 V210A probably benign Het
Hipk3 T C 2: 104,433,741 D804G probably damaging Het
L3mbtl1 T C 2: 162,970,305 W757R probably damaging Het
Lrrfip2 A G 9: 111,161,393 probably null Het
Ly75 T C 2: 60,308,191 D1444G probably damaging Het
Mars A G 10: 127,297,569 V765A probably benign Het
Med1 A G 11: 98,156,260 probably benign Het
Msln G A 17: 25,752,933 probably benign Het
Nup188 T A 2: 30,307,633 probably null Het
Olfr406 T G 11: 74,270,102 F238V possibly damaging Het
Olfr866 A T 9: 20,027,711 F76I probably benign Het
Otop2 T A 11: 115,329,567 M411K probably benign Het
Plekha8 T C 6: 54,629,866 L382P probably damaging Het
Pspn A G 17: 56,999,853 probably benign Het
Rnf215 A G 11: 4,139,793 T269A probably damaging Het
Rps6kc1 A T 1: 190,834,061 L329Q probably damaging Het
Srms T A 2: 181,212,497 R92S possibly damaging Het
Ssxb10 C A X: 8,335,606 S157* probably null Het
Tfap2c T C 2: 172,557,251 S448P probably damaging Het
Thsd7b A G 1: 129,915,615 N855D probably benign Het
Timeless A C 10: 128,249,760 D887A possibly damaging Het
Tyms T C 5: 30,061,999 Y169C probably damaging Het
Unc45b T A 11: 82,917,179 C207S probably damaging Het
Utp20 A G 10: 88,775,285 F1390S probably damaging Het
Vmn2r53 A T 7: 12,581,466 probably benign Het
Zfp369 A T 13: 65,280,281 D18V probably damaging Het
Other mutations in Picalm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Picalm APN 7 90161318 missense probably damaging 1.00
IGL01147:Picalm APN 7 90177592 missense probably benign 0.42
IGL02814:Picalm APN 7 90191749 missense possibly damaging 0.75
IGL02828:Picalm APN 7 90177501 missense probably benign
IGL02904:Picalm APN 7 90176411 splice site probably benign
IGL03001:Picalm APN 7 90182246 missense probably benign 0.00
IGL03247:Picalm APN 7 90194291 missense probably benign 0.27
R0024:Picalm UTSW 7 90130704 critical splice donor site probably null
R0085:Picalm UTSW 7 90182317 missense probably benign
R0414:Picalm UTSW 7 90189198 missense possibly damaging 0.94
R0537:Picalm UTSW 7 90130668 missense probably benign 0.05
R0855:Picalm UTSW 7 90191148 missense possibly damaging 0.55
R1269:Picalm UTSW 7 90165549 nonsense probably null
R1496:Picalm UTSW 7 90130651 missense probably benign 0.36
R1635:Picalm UTSW 7 90191251 missense probably damaging 1.00
R1750:Picalm UTSW 7 90191182 missense possibly damaging 0.81
R1755:Picalm UTSW 7 90160549 missense possibly damaging 0.88
R2513:Picalm UTSW 7 90197009 missense probably damaging 1.00
R3850:Picalm UTSW 7 90191704 missense probably damaging 1.00
R3874:Picalm UTSW 7 90189219 missense probably damaging 1.00
R5095:Picalm UTSW 7 90170633 missense probably damaging 1.00
R5368:Picalm UTSW 7 90207595 makesense probably null
R5517:Picalm UTSW 7 90170598 missense possibly damaging 0.68
R6012:Picalm UTSW 7 90195700 missense probably benign
R6280:Picalm UTSW 7 90177562 missense probably benign 0.00
R6739:Picalm UTSW 7 90176708 missense probably damaging 1.00
R6951:Picalm UTSW 7 90191375 missense probably damaging 1.00
R7083:Picalm UTSW 7 90176768 missense probably benign 0.01
R7877:Picalm UTSW 7 90130668 missense probably benign 0.05
R8081:Picalm UTSW 7 90191243 nonsense probably null
Z1176:Picalm UTSW 7 90196967 missense probably damaging 0.98
Posted On2016-08-02