Incidental Mutation 'IGL02641:Pip5k1c'
ID 301746
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 # IGL02641
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A T 4: 124,504,510 (GRCm39) M14K unknown Het
Arhgap24 T C 5: 103,040,386 (GRCm39) V441A probably damaging Het
Cdv3 G T 9: 103,241,223 (GRCm39) Q115K probably damaging Het
Clstn1 G T 4: 149,713,968 (GRCm39) G207C probably null Het
Col28a1 A T 6: 8,014,794 (GRCm39) Y870* probably null Het
Creb3 A C 4: 43,563,311 (GRCm39) H136P probably benign Het
Dcaf17 G A 2: 70,912,375 (GRCm39) C320Y probably damaging Het
Fbl T C 7: 27,874,471 (GRCm39) S66P probably damaging Het
Fgfrl1 C A 5: 108,853,731 (GRCm39) S279R probably damaging Het
Gdpgp1 C T 7: 79,888,796 (GRCm39) R276* probably null Het
Hcfc2 A G 10: 82,538,383 (GRCm39) Y140C probably damaging Het
Ighg3 A G 12: 113,323,818 (GRCm39) I190T unknown Het
Itgav T C 2: 83,598,689 (GRCm39) probably benign Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Ldoc1 G A X: 60,753,419 (GRCm39) C35Y probably damaging Het
Lrp10 T A 14: 54,706,068 (GRCm39) C419* probably null Het
Micall2 T C 5: 139,705,094 (GRCm39) D80G probably damaging Het
Or5b21 T A 19: 12,839,566 (GRCm39) C142* probably null Het
Pde3b C T 7: 114,130,052 (GRCm39) T869I probably damaging Het
Pkhd1 G A 1: 20,628,976 (GRCm39) T657I possibly damaging Het
Pnisr A G 4: 21,860,908 (GRCm39) N197S probably benign Het
Rpl21-ps4 G A 14: 11,227,661 (GRCm38) noncoding transcript Het
Rtn4rl1 A C 11: 75,156,650 (GRCm39) T361P probably damaging Het
Spaca9 C A 2: 28,585,963 (GRCm39) E34* probably null Het
Trip10 T A 17: 57,569,411 (GRCm39) D478E probably benign Het
Tsc22d2 A G 3: 58,323,576 (GRCm39) D156G probably damaging Het
Ufc1 T C 1: 171,117,764 (GRCm39) D50G probably damaging Het
Vmn1r202 T G 13: 22,686,274 (GRCm39) I48L probably benign Het
Vmn2r111 A T 17: 22,792,205 (GRCm39) V17E possibly damaging Het
Vps13a T A 19: 16,676,185 (GRCm39) M1263L 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
IGL02616: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
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