Incidental Mutation 'IGL03030:Pik3ip1'
ID408389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3ip1
Ensembl Gene ENSMUSG00000034614
Gene Namephosphoinositide-3-kinase interacting protein 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL03030
Quality Score
Status
Chromosome11
Chromosomal Location3330401-3342971 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3333259 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 57 (K57E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045153] [ENSMUST00000093399] [ENSMUST00000136474] [ENSMUST00000136536]
Predicted Effect probably benign
Transcript: ENSMUST00000045153
AA Change: K120E

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000036921
Gene: ENSMUSG00000034614
AA Change: K120E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
KR 23 103 3.64e-17 SMART
transmembrane domain 170 192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093399
AA Change: K120E

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000091100
Gene: ENSMUSG00000034614
AA Change: K120E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
KR 23 103 3.64e-17 SMART
transmembrane domain 169 191 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130747
Predicted Effect probably benign
Transcript: ENSMUST00000136474
AA Change: K19E

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119106
Gene: ENSMUSG00000034614
AA Change: K19E

DomainStartEndE-ValueType
transmembrane domain 69 91 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136536
AA Change: K127E

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122407
Gene: ENSMUSG00000034614
AA Change: K127E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
KR 23 103 1.1e-16 SMART
transmembrane domain 177 199 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000138907
AA Change: K57E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121277
Gene: ENSMUSG00000034614
AA Change: K57E

DomainStartEndE-ValueType
KR 1 41 7.93e-3 SMART
transmembrane domain 108 130 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155332
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,304,644 D246G probably damaging Het
4930452B06Rik A G 14: 8,511,113 S434P probably damaging Het
4931406B18Rik A G 7: 43,495,633 V367A possibly damaging Het
Abcb5 A T 12: 118,940,369 S200R possibly damaging Het
Adam29 T C 8: 55,873,065 D118G probably damaging Het
Adh4 A G 3: 138,429,145 D360G probably benign Het
Ankle2 A G 5: 110,251,610 Q611R possibly damaging Het
Ankra2 C T 13: 98,273,373 probably benign Het
Ap1g2 T A 14: 55,106,047 I28F probably damaging Het
Baz2a C T 10: 128,125,146 T1608I possibly damaging Het
C530008M17Rik A G 5: 76,857,616 D608G unknown Het
Cacnb4 T C 2: 52,474,882 D123G probably damaging Het
Cage1 G A 13: 38,028,147 T51M probably benign Het
Ccdc63 A G 5: 122,122,813 V216A probably benign Het
Ccnd2 A G 6: 127,148,878 V65A probably damaging Het
Chd3 T A 11: 69,354,404 T1163S possibly damaging Het
Cmbl A G 15: 31,589,677 probably benign Het
Cobl G T 11: 12,254,241 N813K possibly damaging Het
Cog5 G A 12: 31,790,922 V249M probably damaging Het
Cps1 A G 1: 67,142,921 N98S probably damaging Het
D630045J12Rik A T 6: 38,149,713 I1454N probably damaging Het
Elmo2 A G 2: 165,294,317 V603A possibly damaging Het
F12 A G 13: 55,421,519 probably benign Het
Ficd G A 5: 113,736,929 V20I probably benign Het
Gatad2b G T 3: 90,341,937 G94V probably benign Het
Gm4845 G A 1: 141,256,665 noncoding transcript Het
Hrnr G A 3: 93,320,601 V9I possibly damaging Het
Kifc3 A G 8: 95,102,412 S584P probably damaging Het
Klk1b24 C A 7: 44,191,366 Q73K probably benign Het
Lrp10 C A 14: 54,469,162 N518K possibly damaging Het
Lsr A G 7: 30,959,281 V247A possibly damaging Het
Mfsd6 A T 1: 52,709,703 M1K probably null Het
Mprip T A 11: 59,741,115 probably null Het
Myo3b G T 2: 70,426,816 probably benign Het
Olfr1019 T C 2: 85,841,072 T240A probably damaging Het
Olfr123 T A 17: 37,796,271 Y276N probably damaging Het
Olfr1463 C T 19: 13,235,054 S268L probably damaging Het
Olfr32 A T 2: 90,138,662 I159N possibly damaging Het
Olfr365 T C 2: 37,201,871 V210A probably benign Het
Oprd1 A G 4: 132,117,385 F104S possibly damaging Het
Palb2 A G 7: 122,113,256 V591A probably damaging Het
Pcdhb18 A T 18: 37,490,733 D372V probably damaging Het
Phc3 A G 3: 30,936,853 V405A probably damaging Het
Phf20l1 A T 15: 66,641,947 probably benign Het
Pkhd1l1 T C 15: 44,596,902 V4169A probably benign Het
Pkhd1l1 G A 15: 44,591,976 M4044I probably benign Het
Pklr A T 3: 89,142,656 I313F probably damaging Het
Plxna4 T A 6: 32,202,225 T952S probably benign Het
Pop4 A T 7: 38,263,306 I178N probably damaging Het
Prss40 A C 1: 34,558,101 V122G probably damaging Het
Rapgef2 C A 3: 79,074,307 probably null Het
Rbm19 A G 5: 120,131,246 D538G probably damaging Het
Rnf44 G A 13: 54,681,990 R312* probably null Het
Rock1 T C 18: 10,070,215 probably benign Het
Rrp1b A G 17: 32,056,901 E474G probably damaging Het
Ryr2 T A 13: 11,684,479 I2959F probably damaging Het
Sidt2 A G 9: 45,939,505 S801P probably damaging Het
Skint6 T C 4: 113,012,956 I602V probably benign Het
Slc6a19 C A 13: 73,700,471 V55L probably damaging Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Trappc11 C A 8: 47,513,929 V440F probably damaging Het
Vmn1r236 G A 17: 21,286,846 W75* probably null Het
Vmn2r52 A G 7: 10,158,872 F780S probably benign Het
Vmn2r82 G T 10: 79,381,315 A494S possibly damaging Het
Vwa3b A T 1: 37,044,968 K74M probably damaging Het
Wrn T A 8: 33,248,961 I1037F possibly damaging Het
Zfp13 T C 17: 23,580,845 T82A probably benign Het
Zfp82 T C 7: 30,057,465 E64G probably benign Het
Other mutations in Pik3ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1892:Pik3ip1 UTSW 11 3333304 missense probably damaging 1.00
R3940:Pik3ip1 UTSW 11 3331987 missense probably damaging 0.97
R4610:Pik3ip1 UTSW 11 3333327 missense probably damaging 1.00
R4818:Pik3ip1 UTSW 11 3330928 unclassified probably benign
R5032:Pik3ip1 UTSW 11 3333520 missense probably damaging 0.99
R6786:Pik3ip1 UTSW 11 3332124 missense probably benign 0.15
R7538:Pik3ip1 UTSW 11 3333558 missense probably damaging 1.00
R8263:Pik3ip1 UTSW 11 3341581 missense probably damaging 0.99
Posted On2016-08-02