Incidental Mutation 'IGL03170:Pim1'
ID411812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pim1
Ensembl Gene ENSMUSG00000024014
Gene Nameproviral integration site 1
SynonymsPim-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03170
Quality Score
Status
Chromosome17
Chromosomal Location29490812-29496111 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 29491178 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 12 (L12Q)
Ref Sequence ENSEMBL: ENSMUSP00000024811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024811]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024811
AA Change: L12Q

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024811
Gene: ENSMUSG00000024014
AA Change: L12Q

DomainStartEndE-ValueType
low complexity region 1 45 N/A INTRINSIC
low complexity region 52 77 N/A INTRINSIC
S_TKc 122 374 1.88e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181920
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 expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have abnormally small erythrocytes but are otherwise phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik C T 1: 105,735,955 T943I probably damaging Het
Cand2 A G 6: 115,797,900 D1023G probably damaging Het
Cyp2c54 A G 19: 40,072,365 probably null Het
Cyp4f37 C T 17: 32,625,119 probably benign Het
Cyr61 C A 3: 145,649,759 A12S probably benign Het
Entpd2 T C 2: 25,399,481 F325S probably damaging Het
Flnb T C 14: 7,818,261 I37T possibly damaging Het
Gm7030 C T 17: 36,128,713 G125E probably damaging Het
Gm7534 C T 4: 134,193,034 V607I possibly damaging Het
Gtpbp10 A G 5: 5,555,355 V116A probably benign Het
Lrp1b T A 2: 40,697,444 N164I unknown Het
Nle1 T A 11: 82,904,270 T312S probably benign Het
Olfr509 T C 7: 108,646,100 I159V probably benign Het
Plb1 G T 5: 32,284,902 C246F probably damaging Het
Ppp4r4 T C 12: 103,590,774 probably benign Het
Prl6a1 T A 13: 27,315,423 V63D possibly damaging Het
Ptprz1 G A 6: 22,959,767 A88T probably benign Het
Ranbp3l A T 15: 9,000,787 E31V probably damaging Het
Rgs9 G A 11: 109,259,855 T209I probably benign Het
Smg8 A G 11: 87,086,608 V49A probably damaging Het
Smim6 A T 11: 115,913,488 T34S possibly damaging Het
Snw1 T G 12: 87,472,252 T4P probably benign Het
Sod2 C A 17: 13,008,370 H70Q probably benign Het
Tro A G X: 150,655,560 S34P probably benign Het
Tshr T A 12: 91,537,869 M527K probably damaging Het
Uggt1 A C 1: 36,163,261 V1085G probably damaging Het
Vmn1r21 A G 6: 57,843,862 V199A probably damaging Het
Xkr9 T C 1: 13,700,812 I184T possibly damaging Het
Zfp369 T C 13: 65,294,410 S273P probably damaging Het
Other mutations in Pim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02076:Pim1 APN 17 29493803 missense probably damaging 1.00
IGL02859:Pim1 APN 17 29491935 missense probably damaging 1.00
IGL03182:Pim1 APN 17 29491766 missense possibly damaging 0.63
IGL03191:Pim1 APN 17 29493719 splice site probably benign
R0510:Pim1 UTSW 17 29493909 splice site probably benign
R5382:Pim1 UTSW 17 29491483 intron probably benign
R5872:Pim1 UTSW 17 29493746 missense probably damaging 1.00
Posted On2016-08-02