Incidental Mutation 'IGL02616:Pip5k1c'
ID 300690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pip5k1c
Ensembl Gene ENSMUSG00000034902
Gene Name phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma
Synonyms PIP5KIgamma
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02616
Quality Score
Status
Chromosome 10
Chromosomal Location 81128797-81155807 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 81153155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000050867] [ENSMUST00000105327] [ENSMUST00000161854] [ENSMUST00000163075] [ENSMUST00000161869] [ENSMUST00000161719]
AlphaFold O70161
PDB Structure Structural basis for phosphatidylinositol phosphate kinase type I-gamma binding to talin at focal adhesions [X-RAY DIFFRACTION]
Solution structure of the talin F3 domain in complex with a chimeric beta3 integrin-PIP kinase peptide [SOLUTION NMR]
Solution structure of the talin F3 domain in complex with a chimeric beta3 integrin-PIP kinase peptide- minimized average structure [SOLUTION NMR]
Predicted Effect probably null
Transcript: ENSMUST00000045469
SMART Domains Protein: ENSMUSP00000038225
Gene: ENSMUSG00000034902

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: ENSMUST00000050867
SMART Domains Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889

DomainStartEndE-ValueType
low complexity region 9 101 N/A INTRINSIC
low complexity region 128 149 N/A INTRINSIC
coiled coil region 157 184 N/A INTRINSIC
low complexity region 186 206 N/A INTRINSIC
low complexity region 246 253 N/A INTRINSIC
Pfam:Cactin_mid 292 479 2.1e-68 PFAM
low complexity region 507 524 N/A INTRINSIC
low complexity region 531 558 N/A INTRINSIC
low complexity region 596 607 N/A INTRINSIC
CactinC_cactus 648 772 2.13e-87 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105327
SMART Domains Protein: ENSMUSP00000100964
Gene: ENSMUSG00000034902

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 noncoding transcript
Transcript: ENSMUST00000159636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159895
Predicted Effect probably benign
Transcript: ENSMUST00000161586
SMART Domains Protein: ENSMUSP00000124612
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
low complexity region 54 81 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161854
SMART Domains Protein: ENSMUSP00000124004
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163075
SMART Domains Protein: ENSMUSP00000124155
Gene: ENSMUSG00000034902

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: ENSMUST00000161869
SMART Domains Protein: ENSMUSP00000124235
Gene: ENSMUSG00000034902

DomainStartEndE-ValueType
low complexity region 7 36 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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,644 (GRCm39) R190G probably benign Het
4931406B18Rik T C 7: 43,150,437 (GRCm39) probably null Het
Adcy4 T C 14: 56,020,971 (GRCm39) probably null Het
Ahnak C A 19: 8,982,991 (GRCm39) P1425Q probably benign Het
Arih1 A G 9: 59,319,759 (GRCm39) V285A probably benign Het
Atp13a1 T C 8: 70,257,963 (GRCm39) V906A probably benign Het
Atp2a2 A T 5: 122,599,747 (GRCm39) I548N probably benign Het
C2cd5 A T 6: 142,980,837 (GRCm39) S643T probably benign Het
Calcoco1 T C 15: 102,624,285 (GRCm39) D210G probably damaging Het
Cep128 A G 12: 91,263,032 (GRCm39) I289T probably benign Het
Ces1c C T 8: 93,833,243 (GRCm39) M407I probably benign Het
Cntln T G 4: 85,033,689 (GRCm39) probably null Het
Cypt12 T A 3: 18,002,892 (GRCm39) H88Q possibly damaging Het
Ddc T A 11: 11,830,645 (GRCm39) probably benign Het
Dnajb12 T C 10: 59,728,685 (GRCm39) probably null Het
Gata2 A G 6: 88,182,462 (GRCm39) T477A possibly damaging Het
Gckr A G 5: 31,484,419 (GRCm39) D619G probably benign Het
Gm5699 A T 1: 31,037,432 (GRCm39) noncoding transcript Het
Gm8257 T A 14: 44,892,683 (GRCm39) S106C probably damaging Het
Gpr15 A C 16: 58,538,567 (GRCm39) L174R probably damaging Het
Hnrnph3 T A 10: 62,855,264 (GRCm39) H7L possibly damaging Het
Ide A T 19: 37,275,455 (GRCm39) I518N unknown Het
Igdcc4 G A 9: 65,040,360 (GRCm39) G957D probably damaging Het
Igsf10 G A 3: 59,226,027 (GRCm39) P2549S probably benign Het
Kcnj9 A G 1: 172,153,531 (GRCm39) S198P probably damaging Het
Lclat1 T C 17: 73,476,528 (GRCm39) I45T probably benign Het
Met T C 6: 17,553,346 (GRCm39) L1044S probably damaging Het
Msh4 T C 3: 153,563,160 (GRCm39) T739A probably benign Het
Ncam1 T C 9: 49,419,988 (GRCm39) E776G probably benign Het
Ndufv3 G A 17: 31,746,643 (GRCm39) V178M probably damaging Het
Nlgn1 T C 3: 25,488,409 (GRCm39) Y613C probably damaging Het
Nmbr T C 10: 14,636,431 (GRCm39) probably benign Het
Orc1 T A 4: 108,452,676 (GRCm39) W184R probably benign Het
Pde6b T C 5: 108,579,407 (GRCm39) S850P probably benign Het
Pnpt1 T C 11: 29,085,505 (GRCm39) probably benign Het
Pomt2 T A 12: 87,171,636 (GRCm39) H378L probably damaging Het
Sh3gl3 C T 7: 81,934,226 (GRCm39) probably benign Het
Thsd7a A T 6: 12,408,984 (GRCm39) N679K probably damaging Het
Tns2 T C 15: 102,019,850 (GRCm39) M572T probably benign Het
Twf2 C T 9: 106,089,955 (GRCm39) Q103* probably null Het
Uncx T C 5: 139,532,523 (GRCm39) I196T possibly damaging Het
Urgcp A G 11: 5,667,400 (GRCm39) S313P probably damaging Het
Vmn1r222 A T 13: 23,416,311 (GRCm39) C301S possibly damaging Het
Vmn2r111 T A 17: 22,790,031 (GRCm39) Q325L possibly damaging Het
Vps4a C T 8: 107,768,909 (GRCm39) R236W probably damaging Het
Wdr19 T A 5: 65,380,924 (GRCm39) H344Q probably damaging Het
Wiz A T 17: 32,578,443 (GRCm39) D356E probably damaging Het
Zc3h10 T C 10: 128,380,751 (GRCm39) E202G probably benign Het
Other mutations in Pip5k1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Pip5k1c APN 10 81,141,545 (GRCm39) missense probably benign 0.45
IGL02274:Pip5k1c APN 10 81,142,218 (GRCm39) missense probably damaging 1.00
IGL02500:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02565:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02577:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02579:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02581:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02604:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02610:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02613:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02617:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02639:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02641:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02642:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
IGL02724:Pip5k1c APN 10 81,149,296 (GRCm39) missense probably benign 0.01
IGL02751:Pip5k1c APN 10 81,153,155 (GRCm39) splice site probably null
PIT4366001:Pip5k1c UTSW 10 81,144,842 (GRCm39) missense probably damaging 0.98
R0257:Pip5k1c UTSW 10 81,150,930 (GRCm39) missense possibly damaging 0.86
R1643:Pip5k1c UTSW 10 81,150,828 (GRCm39) missense probably damaging 1.00
R1663:Pip5k1c UTSW 10 81,148,349 (GRCm39) missense probably damaging 1.00
R1872:Pip5k1c UTSW 10 81,142,153 (GRCm39) missense probably damaging 0.99
R2293:Pip5k1c UTSW 10 81,149,918 (GRCm39) missense possibly damaging 0.82
R2295:Pip5k1c UTSW 10 81,141,020 (GRCm39) missense probably benign 0.40
R2310:Pip5k1c UTSW 10 81,142,142 (GRCm39) missense probably damaging 0.96
R2406:Pip5k1c UTSW 10 81,144,858 (GRCm39) missense probably damaging 1.00
R4504:Pip5k1c UTSW 10 81,150,945 (GRCm39) missense probably damaging 0.98
R4772:Pip5k1c UTSW 10 81,151,774 (GRCm39) missense probably benign
R5022:Pip5k1c UTSW 10 81,146,723 (GRCm39) splice site probably null
R5023:Pip5k1c UTSW 10 81,146,723 (GRCm39) splice site probably null
R5033:Pip5k1c UTSW 10 81,141,084 (GRCm39) missense probably damaging 0.99
R5057:Pip5k1c UTSW 10 81,146,723 (GRCm39) splice site probably null
R5482:Pip5k1c UTSW 10 81,128,897 (GRCm39) missense probably damaging 0.98
R6305:Pip5k1c UTSW 10 81,151,768 (GRCm39) missense probably benign 0.02
R6511:Pip5k1c UTSW 10 81,146,651 (GRCm39) missense probably damaging 1.00
R6544:Pip5k1c UTSW 10 81,144,830 (GRCm39) missense probably damaging 1.00
R7512:Pip5k1c UTSW 10 81,150,953 (GRCm39) critical splice donor site probably null
R7581:Pip5k1c UTSW 10 81,144,794 (GRCm39) missense probably damaging 1.00
R8218:Pip5k1c UTSW 10 81,142,250 (GRCm39) missense probably damaging 1.00
R8686:Pip5k1c UTSW 10 81,147,827 (GRCm39) missense probably damaging 0.99
R8927:Pip5k1c UTSW 10 81,128,906 (GRCm39) missense possibly damaging 0.95
R8928:Pip5k1c UTSW 10 81,128,906 (GRCm39) missense possibly damaging 0.95
R9048:Pip5k1c UTSW 10 81,152,710 (GRCm39) intron probably benign
R9049:Pip5k1c UTSW 10 81,152,710 (GRCm39) intron probably benign
R9100:Pip5k1c UTSW 10 81,145,056 (GRCm39) missense probably benign 0.01
R9443:Pip5k1c UTSW 10 81,153,184 (GRCm39) missense probably damaging 0.99
R9448:Pip5k1c UTSW 10 81,141,645 (GRCm39) missense probably damaging 1.00
R9466:Pip5k1c UTSW 10 81,152,710 (GRCm39) intron probably benign
R9775:Pip5k1c UTSW 10 81,147,853 (GRCm39) missense probably damaging 0.98
R9780:Pip5k1c UTSW 10 81,141,030 (GRCm39) missense probably benign 0.01
Z1177:Pip5k1c UTSW 10 81,150,866 (GRCm39) missense possibly damaging 0.56
Posted On 2015-04-16