Incidental Mutation 'IGL02859:Pim1'
ID 362090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pim1
Ensembl Gene ENSMUSG00000024014
Gene Name proviral integration site 1
Synonyms Pim-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02859
Quality Score
Status
Chromosome 17
Chromosomal Location 29709759-29715085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29710909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 171 (E171K)
Ref Sequence ENSEMBL: ENSMUSP00000024811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024811]
AlphaFold P06803
Predicted Effect probably damaging
Transcript: ENSMUST00000024811
AA Change: E171K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024811
Gene: ENSMUSG00000024014
AA Change: E171K

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,818 (GRCm39) Y637F possibly damaging Het
Abcc4 A G 14: 118,753,912 (GRCm39) I1025T probably damaging Het
Adam22 C A 5: 8,217,375 (GRCm39) R140L probably damaging Het
Ahdc1 C A 4: 132,790,003 (GRCm39) L415I possibly damaging Het
Ahdc1 T A 4: 132,790,004 (GRCm39) L415H probably damaging Het
Bivm C A 1: 44,176,159 (GRCm39) S305* probably null Het
Clca4b C T 3: 144,617,800 (GRCm39) D768N probably benign Het
Cobl T A 11: 12,319,602 (GRCm39) N31Y probably damaging Het
Col4a5 G A X: 140,392,846 (GRCm39) C484Y unknown Het
Ctnnd1 T C 2: 84,450,253 (GRCm39) probably benign Het
Dnah5 A G 15: 28,383,771 (GRCm39) T2998A probably benign Het
Dnah9 T A 11: 65,772,445 (GRCm39) probably benign Het
F2 T C 2: 91,456,087 (GRCm39) D558G probably damaging Het
Gle1 T A 2: 29,839,240 (GRCm39) W511R probably damaging Het
Gm11564 C T 11: 99,705,953 (GRCm39) S159N unknown Het
Htr6 A G 4: 138,801,745 (GRCm39) C110R probably damaging Het
Ikbke T A 1: 131,197,934 (GRCm39) S391C probably damaging Het
Itgae T C 11: 73,005,693 (GRCm39) F286L probably damaging Het
Kcnb2 A T 1: 15,780,730 (GRCm39) H534L probably damaging Het
Map1b T C 13: 99,569,544 (GRCm39) Y1059C unknown Het
Mul1 A G 4: 138,165,660 (GRCm39) T106A probably damaging Het
Nf2 T A 11: 4,741,209 (GRCm39) E249V probably damaging Het
Nlrp1a T C 11: 70,996,912 (GRCm39) S965G possibly damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Optc T C 1: 133,829,799 (GRCm39) T204A probably damaging Het
Or51f1d T C 7: 102,701,345 (GRCm39) V280A probably benign Het
Or8k37 T C 2: 86,469,992 (GRCm39) N20S probably benign Het
Pcnx2 C T 8: 126,589,912 (GRCm39) R787Q probably damaging Het
Pnpt1 T C 11: 29,088,162 (GRCm39) V191A probably damaging Het
Rbbp8 G A 18: 11,871,671 (GRCm39) R796Q probably benign Het
Serpinb9e A G 13: 33,435,633 (GRCm39) D22G possibly damaging Het
Sit1 C T 4: 43,482,831 (GRCm39) M109I probably benign Het
Slc17a8 A G 10: 89,412,446 (GRCm39) V329A probably benign Het
Smg1 T A 7: 117,748,156 (GRCm39) probably benign Het
Snx7 T A 3: 117,623,320 (GRCm39) probably benign Het
Stat2 A T 10: 128,112,480 (GRCm39) E40V probably damaging Het
Vegfa C T 17: 46,335,421 (GRCm39) S291N probably benign Het
Vmn1r61 G T 7: 5,614,288 (GRCm39) L9I probably benign Het
Wbp4 T C 14: 79,708,129 (GRCm39) K163E probably damaging Het
Other mutations in Pim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02076:Pim1 APN 17 29,712,777 (GRCm39) missense probably damaging 1.00
IGL03170:Pim1 APN 17 29,710,152 (GRCm39) missense possibly damaging 0.87
IGL03182:Pim1 APN 17 29,710,740 (GRCm39) missense possibly damaging 0.63
IGL03191:Pim1 APN 17 29,712,693 (GRCm39) splice site probably benign
R0510:Pim1 UTSW 17 29,712,883 (GRCm39) splice site probably benign
R5382:Pim1 UTSW 17 29,710,457 (GRCm39) intron probably benign
R5872:Pim1 UTSW 17 29,712,720 (GRCm39) missense probably damaging 1.00
R9259:Pim1 UTSW 17 29,710,181 (GRCm39) missense probably benign 0.04
Posted On 2015-12-18