Incidental Mutation 'IGL02363:Pim3'
ID290627
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pim3
Ensembl Gene ENSMUSG00000035828
Gene Nameproviral integration site 3
SynonymsKID-1/kinase induced by depolarization, Kid1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02363
Quality Score
Status
Chromosome15
Chromosomal Location88862186-88865726 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88862913 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 54 (V54A)
Ref Sequence ENSEMBL: ENSMUSP00000044603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042818]
Predicted Effect probably benign
Transcript: ENSMUST00000042818
AA Change: V54A

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044603
Gene: ENSMUSG00000035828
AA Change: V54A

DomainStartEndE-ValueType
S_TKc 40 293 9.25e-69 SMART
low complexity region 312 325 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229969
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous null mice are healthy and fertile and do not display any gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,218,437 H1490L possibly damaging Het
Ak8 T C 2: 28,812,898 S425P probably damaging Het
Comt T C 16: 18,411,131 D153G probably benign Het
Exoc6 T C 19: 37,608,954 I601T probably damaging Het
F11 A T 8: 45,241,531 C598S probably damaging Het
Galnt13 G T 2: 55,112,860 D524Y probably damaging Het
Glb1l3 T C 9: 26,853,644 E157G probably damaging Het
Hc T C 2: 35,000,835 H1323R probably benign Het
Hsd3b5 T C 3: 98,630,105 I32V probably benign Het
Il6ra A G 3: 89,871,253 S430P probably benign Het
Lama2 G T 10: 27,366,066 T298K probably damaging Het
Nedd4l T C 18: 65,208,045 probably benign Het
Ntrk3 T C 7: 78,453,337 D405G probably benign Het
Opn5 T C 17: 42,557,491 D371G probably benign Het
Pcdh15 G T 10: 74,317,086 A408S probably damaging Het
Prdm5 T C 6: 65,794,319 F38S probably damaging Het
Ptgs2 C T 1: 150,105,709 probably null Het
Rnf185 A G 11: 3,418,015 I221T possibly damaging Het
Slc27a2 T C 2: 126,578,950 F318L possibly damaging Het
Spata1 T C 3: 146,487,364 Y124C possibly damaging Het
Tmie G T 9: 110,870,753 probably benign Het
Tph2 T C 10: 115,079,981 K429R probably benign Het
Usp32 A G 11: 85,044,787 Y388H probably benign Het
Vmn2r60 A T 7: 42,195,154 Q647L probably benign Het
Other mutations in Pim3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Pim3 APN 15 88863531 missense probably benign 0.23
R2219:Pim3 UTSW 15 88862912 missense possibly damaging 0.92
R2264:Pim3 UTSW 15 88864590 missense probably damaging 1.00
R5086:Pim3 UTSW 15 88864403 missense probably damaging 1.00
R5245:Pim3 UTSW 15 88863201 missense possibly damaging 0.88
R5486:Pim3 UTSW 15 88863222 missense possibly damaging 0.71
R6759:Pim3 UTSW 15 88863093 critical splice donor site probably null
Z1177:Pim3 UTSW 15 88864441 missense possibly damaging 0.92
Posted On2015-04-16