Incidental Mutation 'IGL01467:Pip4k2c'
ID88144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pip4k2c
Ensembl Gene ENSMUSG00000025417
Gene Namephosphatidylinositol-5-phosphate 4-kinase, type II, gamma
SynonymsPip5k2c
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01467
Quality Score
Status
Chromosome10
Chromosomal Location127197067-127211585 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 127199629 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 347 (F347L)
Ref Sequence ENSEMBL: ENSMUSP00000013970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013970] [ENSMUST00000038217] [ENSMUST00000116229] [ENSMUST00000130855] [ENSMUST00000144322]
Predicted Effect probably benign
Transcript: ENSMUST00000013970
AA Change: F347L

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417
AA Change: F347L

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
PIPKc 72 420 2.3e-172 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038217
SMART Domains Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
low complexity region 64 72 N/A INTRINSIC
coiled coil region 73 104 N/A INTRINSIC
low complexity region 119 154 N/A INTRINSIC
RING 164 202 1.04e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116229
SMART Domains Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
low complexity region 64 72 N/A INTRINSIC
coiled coil region 73 104 N/A INTRINSIC
low complexity region 119 154 N/A INTRINSIC
RING 164 202 1.04e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125254
Predicted Effect probably benign
Transcript: ENSMUST00000130855
SMART Domains Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
low complexity region 67 75 N/A INTRINSIC
coiled coil region 76 107 N/A INTRINSIC
low complexity region 122 157 N/A INTRINSIC
RING 167 205 1.04e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144322
SMART Domains Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415

DomainStartEndE-ValueType
low complexity region 67 75 N/A INTRINSIC
coiled coil region 76 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219079
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele develop enhanced immune responses associated with T cell hyperactivation, increased T cell proliferation, increased immune infiltrates in various tissues, increased plasma cytokine levels, and increased mTORC1 signaling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A G 5: 121,519,728 C501R probably damaging Het
Atxn1 C T 13: 45,567,193 V409I probably damaging Het
Cdkn2aip T C 8: 47,711,212 R489G probably damaging Het
Cgn A G 3: 94,779,588 S135P probably damaging Het
Cpne3 C A 4: 19,553,737 C98F probably benign Het
Cyp2c23 T C 19: 44,015,073 N221S possibly damaging Het
Dnah8 A G 17: 30,779,916 N3525S probably damaging Het
Efr3b T C 12: 3,969,597 E560G probably damaging Het
Eif2b5 C A 16: 20,508,964 C154* probably null Het
Eps8l2 A G 7: 141,361,601 E595G probably damaging Het
Gm8394 A G 10: 85,314,122 noncoding transcript Het
Gm9839 A T 1: 32,519,951 I350N probably damaging Het
Hdlbp A T 1: 93,417,698 probably benign Het
Il18rap A T 1: 40,548,639 I466F probably damaging Het
Itpr1 T A 6: 108,488,496 I2123N probably damaging Het
Jakmip2 A G 18: 43,582,287 I58T probably benign Het
Kdm2a A G 19: 4,324,407 S899P probably damaging Het
Mmp15 T A 8: 95,366,331 F113I probably benign Het
Neb T C 2: 52,159,487 H6448R possibly damaging Het
Olfr165 T C 16: 19,407,789 T77A probably benign Het
Olfr340 C T 2: 36,452,644 R20* probably null Het
Pdgfc A G 3: 81,209,091 T251A probably damaging Het
Pdgfra T C 5: 75,185,631 probably null Het
Pdpk1 A G 17: 24,088,170 S269P probably damaging Het
Platr26 T C 2: 71,723,312 noncoding transcript Het
Pnisr C T 4: 21,874,650 probably benign Het
Rab3gap1 T A 1: 127,930,384 probably null Het
Scn10a C T 9: 119,658,412 V619I probably benign Het
Slc38a11 T A 2: 65,316,856 T426S probably benign Het
Son T C 16: 91,657,277 S971P possibly damaging Het
Stk33 T A 7: 109,329,589 I239L probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem270 G T 5: 134,901,961 probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zfp750 A T 11: 121,512,941 C369* probably null Het
Other mutations in Pip4k2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0281:Pip4k2c UTSW 10 127205821 splice site probably null
R0433:Pip4k2c UTSW 10 127208946 missense probably benign 0.33
R0834:Pip4k2c UTSW 10 127200835 splice site probably benign
R1170:Pip4k2c UTSW 10 127211393 missense unknown
R1851:Pip4k2c UTSW 10 127200875 missense probably damaging 1.00
R2082:Pip4k2c UTSW 10 127199089 missense probably damaging 0.97
R4750:Pip4k2c UTSW 10 127211417 missense unknown
R4915:Pip4k2c UTSW 10 127199327 missense possibly damaging 0.79
R4916:Pip4k2c UTSW 10 127199327 missense possibly damaging 0.79
R4918:Pip4k2c UTSW 10 127199327 missense possibly damaging 0.79
R4985:Pip4k2c UTSW 10 127199375 missense probably benign 0.05
R6019:Pip4k2c UTSW 10 127199074 missense probably damaging 1.00
R7525:Pip4k2c UTSW 10 127208904 missense probably damaging 0.99
R7586:Pip4k2c UTSW 10 127199086 missense probably damaging 1.00
Posted On2013-11-18