Incidental Mutation 'IGL02076:Pim1'
ID185985
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 #IGL02076
Quality Score
Status
Chromosome17
Chromosomal Location29490812-29496111 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 29493803 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 230 (I230N)
Ref Sequence ENSEMBL: ENSMUSP00000024811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024811]
Predicted Effect probably damaging
Transcript: ENSMUST00000024811
AA Change: I230N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024811
Gene: ENSMUSG00000024014
AA Change: I230N

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,136,900 Y407C probably damaging Het
Capn5 T A 7: 98,131,743 K276* probably null Het
Cct4 T C 11: 23,002,394 V495A probably damaging Het
Dapk3 A G 10: 81,190,297 K141E probably damaging Het
Diexf T C 1: 193,130,059 H31R probably damaging Het
Dnah2 T C 11: 69,422,559 N4264S probably damaging Het
Dok1 A G 6: 83,032,831 L99P probably damaging Het
Ebf3 A G 7: 137,231,301 V215A possibly damaging Het
Efnb2 A G 8: 8,660,488 S43P probably benign Het
Jhy G A 9: 40,917,378 Q411* probably null Het
Krt73 G A 15: 101,799,935 T229I probably damaging Het
Mroh8 A G 2: 157,271,962 probably null Het
Olfm1 A G 2: 28,222,625 T223A probably damaging Het
Olfr32 T A 2: 90,138,815 E108V probably damaging Het
Olfr937 A G 9: 39,060,585 L27P probably damaging Het
Oprk1 T A 1: 5,602,289 D216E probably damaging Het
Ppm1f A C 16: 16,914,171 T162P possibly damaging Het
Rbbp8 T C 18: 11,705,819 Y186H probably damaging Het
Sema4a C T 3: 88,450,522 R225H probably damaging Het
Slc15a2 A C 16: 36,762,381 F215C probably damaging Het
Slc25a1 A G 16: 17,927,626 C41R possibly damaging Het
Stil C A 4: 115,023,637 H459Q probably benign Het
Tbc1d32 A G 10: 56,088,403 I900T possibly damaging Het
Tmem33 T C 5: 67,286,103 F208L probably damaging Het
Vmn2r72 A G 7: 85,738,367 V663A probably damaging Het
Other mutations in Pim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02859:Pim1 APN 17 29491935 missense probably damaging 1.00
IGL03170:Pim1 APN 17 29491178 missense possibly damaging 0.87
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 On2014-05-07