Incidental Mutation 'IGL00428:Pip5k1c'
ID4691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pip5k1c
Ensembl Gene ENSMUSG00000034902
Gene Namephosphatidylinositol-4-phosphate 5-kinase, type 1 gamma
SynonymsPIP5KIgamma
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00428
Quality Score
Status
Chromosome10
Chromosomal Location81292963-81319973 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 81305711 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 78 (T78S)
Ref Sequence ENSEMBL: ENSMUSP00000038225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000105327] [ENSMUST00000160291] [ENSMUST00000161719] [ENSMUST00000161854] [ENSMUST00000163075]
Predicted Effect probably benign
Transcript: ENSMUST00000045469
AA Change: T78S

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038225
Gene: ENSMUSG00000034902
AA Change: T78S

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 69 78 N/A INTRINSIC
PIPKc 103 444 2.72e-164 SMART
low complexity region 518 534 N/A INTRINSIC
low complexity region 575 591 N/A INTRINSIC
low complexity region 601 628 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105327
AA Change: T78S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000100964
Gene: ENSMUSG00000034902
AA Change: T78S

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 69 78 N/A INTRINSIC
PIPKc 103 444 2.72e-164 SMART
low complexity region 518 534 N/A INTRINSIC
low complexity region 575 591 N/A INTRINSIC
low complexity region 601 628 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160291
SMART Domains Protein: ENSMUSP00000125645
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161719
SMART Domains Protein: ENSMUSP00000125461
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
Pfam:PIP5K 1 133 1.4e-28 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000161854
AA Change: H82L
SMART Domains Protein: ENSMUSP00000124004
Gene: ENSMUSG00000034902
AA Change: H82L

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163009
Predicted Effect probably benign
Transcript: ENSMUST00000163075
AA Change: T78S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124155
Gene: ENSMUSG00000034902
AA Change: T78S

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 69 78 N/A INTRINSIC
PIPKc 103 444 2.72e-164 SMART
low complexity region 518 534 N/A INTRINSIC
low complexity region 575 591 N/A INTRINSIC
low complexity region 601 628 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mutations in this locus cause variable phenotypes. One allele shows embryonic lethality, abnormal cardiovascular and neuronal development and impaired integrity of the megakaryocyte membrane cytoskeleton. Another allele exhibits neonatal lethality, synaptic transmission and plasticity defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,011,727 N3491S probably benign Het
Adgrg6 G A 10: 14,467,375 P276L probably benign Het
Asap1 G A 15: 64,119,954 probably benign Het
Axl T C 7: 25,760,872 T723A probably damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Capn7 A G 14: 31,363,578 K503E probably benign Het
Cbln4 A G 2: 172,039,050 V108A probably benign Het
Ccdc189 A T 7: 127,585,038 S229T probably damaging Het
Ccdc71 C T 9: 108,464,155 T389M probably damaging Het
Ccdc91 A G 6: 147,606,954 T393A unknown Het
Cdh20 A T 1: 104,953,887 H359L probably benign Het
Coro7 C T 16: 4,634,636 V364M possibly damaging Het
Ctsq A T 13: 61,037,714 N204K probably damaging Het
Dnaja3 C T 16: 4,694,445 R238C probably damaging Het
Dynlt1a C T 17: 6,311,787 V39I possibly damaging Het
Gp1ba A G 11: 70,640,652 probably benign Het
Gtf3c3 T C 1: 54,415,955 Y583C probably damaging Het
Invs T C 4: 48,402,909 F514S probably damaging Het
Kif23 A T 9: 61,926,468 C484S probably benign Het
Masp1 A G 16: 23,476,312 Y400H probably damaging Het
Olfml3 G A 3: 103,736,982 probably null Het
Pard3b T C 1: 62,161,198 S299P probably damaging Het
Pcdhb16 A T 18: 37,478,570 E194D possibly damaging Het
Sept11 T C 5: 93,157,018 probably null Het
Sept8 A G 11: 53,531,996 N11D probably benign Het
Slc10a6 G A 5: 103,612,496 T211I probably benign Het
Smim8 T C 4: 34,769,006 T93A probably benign Het
Tg A G 15: 66,773,424 I774M probably benign Het
Tulp4 A G 17: 6,139,076 T58A probably damaging Het
Virma T C 4: 11,519,424 probably benign Het
Wdr62 T C 7: 30,270,752 D210G probably damaging Het
Zfp984 C T 4: 147,754,886 G503S probably benign Het
Other mutations in Pip5k1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02274:Pip5k1c APN 10 81306384 missense probably damaging 1.00
IGL02500:Pip5k1c APN 10 81317321 splice site probably null
IGL02565:Pip5k1c APN 10 81317321 splice site probably null
IGL02577:Pip5k1c APN 10 81317321 splice site probably null
IGL02579:Pip5k1c APN 10 81317321 splice site probably null
IGL02581:Pip5k1c APN 10 81317321 splice site probably null
IGL02604:Pip5k1c APN 10 81317321 splice site probably null
IGL02610:Pip5k1c APN 10 81317321 splice site probably null
IGL02613:Pip5k1c APN 10 81317321 splice site probably null
IGL02616:Pip5k1c APN 10 81317321 splice site probably null
IGL02617:Pip5k1c APN 10 81317321 splice site probably null
IGL02639:Pip5k1c APN 10 81317321 splice site probably null
IGL02641:Pip5k1c APN 10 81317321 splice site probably null
IGL02642:Pip5k1c APN 10 81317321 splice site probably null
IGL02724:Pip5k1c APN 10 81313462 missense probably benign 0.01
IGL02751:Pip5k1c APN 10 81317321 splice site probably null
PIT4366001:Pip5k1c UTSW 10 81309008 missense probably damaging 0.98
R0257:Pip5k1c UTSW 10 81315096 missense possibly damaging 0.86
R1643:Pip5k1c UTSW 10 81314994 missense probably damaging 1.00
R1663:Pip5k1c UTSW 10 81312515 missense probably damaging 1.00
R1872:Pip5k1c UTSW 10 81306319 missense probably damaging 0.99
R2293:Pip5k1c UTSW 10 81314084 missense possibly damaging 0.82
R2295:Pip5k1c UTSW 10 81305186 missense probably benign 0.40
R2310:Pip5k1c UTSW 10 81306308 missense probably damaging 0.96
R2406:Pip5k1c UTSW 10 81309024 missense probably damaging 1.00
R4504:Pip5k1c UTSW 10 81315111 missense probably damaging 0.98
R4772:Pip5k1c UTSW 10 81315940 missense probably benign
R5022:Pip5k1c UTSW 10 81310889 splice site probably null
R5023:Pip5k1c UTSW 10 81310889 splice site probably null
R5033:Pip5k1c UTSW 10 81305250 missense probably damaging 0.99
R5057:Pip5k1c UTSW 10 81310889 splice site probably null
R5482:Pip5k1c UTSW 10 81293063 missense probably damaging 0.98
R6305:Pip5k1c UTSW 10 81315934 missense probably benign 0.02
R6511:Pip5k1c UTSW 10 81310817 missense probably damaging 1.00
R6544:Pip5k1c UTSW 10 81308996 missense probably damaging 1.00
R7512:Pip5k1c UTSW 10 81315119 critical splice donor site probably null
R7581:Pip5k1c UTSW 10 81308960 missense probably damaging 1.00
Z1177:Pip5k1c UTSW 10 81315032 missense possibly damaging 0.56
Posted On2012-04-20