Incidental Mutation 'IGL03182:Pim1'
ID412294
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 #IGL03182
Quality Score
Status
Chromosome17
Chromosomal Location29490812-29496111 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 29491766 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 114 (D114E)
Ref Sequence ENSEMBL: ENSMUSP00000024811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024811]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024811
AA Change: D114E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024811
Gene: ENSMUSG00000024014
AA Change: D114E

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,803,500 K469N probably damaging Het
Aldh2 A G 5: 121,580,724 probably benign Het
Ankfy1 T C 11: 72,728,754 probably benign Het
Ankhd1 C T 18: 36,578,774 T209I probably benign Het
Aox3 G A 1: 58,165,887 V754I probably benign Het
Arfgef3 C T 10: 18,600,544 R1509H probably damaging Het
AU019823 T C 9: 50,612,398 N50S possibly damaging Het
Ccdc157 A G 11: 4,151,832 S30P probably damaging Het
Cept1 T A 3: 106,504,550 E369D probably damaging Het
Clcnka T C 4: 141,394,487 Y236C probably damaging Het
Ddx42 A T 11: 106,247,527 L717F probably benign Het
Dnah11 A T 12: 118,030,291 I2340N probably damaging Het
Dsel T C 1: 111,860,138 E889G probably damaging Het
Fasn T C 11: 120,812,726 Y1560C probably damaging Het
Fermt2 A T 14: 45,461,768 M623K possibly damaging Het
Gm21970 T A 16: 91,393,838 S110T possibly damaging Het
Gm826 T A 2: 160,327,115 R91S unknown Het
Lrrn3 A G 12: 41,454,021 L99S probably damaging Het
Megf8 T A 7: 25,347,348 M1552K possibly damaging Het
Mgll G T 6: 88,823,191 V191F probably damaging Het
Nol8 C A 13: 49,664,081 H778N probably damaging Het
Olfr1090 A T 2: 86,754,022 S239T probably damaging Het
Olfr1471 A C 19: 13,445,443 T144P possibly damaging Het
Olfr385 T A 11: 73,589,442 T99S probably benign Het
Olfr948 A T 9: 39,318,981 M211K probably benign Het
Pfkfb3 A T 2: 11,501,663 I13N probably damaging Het
Pkd1 T C 17: 24,573,818 L1493P probably damaging Het
Plb1 A T 5: 32,344,915 probably benign Het
Plch1 A T 3: 63,702,594 Y872* probably null Het
Rictor A G 15: 6,789,598 D1434G probably benign Het
Rptor G A 11: 119,725,145 G162R probably damaging Het
Serping1 T C 2: 84,765,818 D424G probably damaging Het
Slit2 A G 5: 48,220,053 I475V possibly damaging Het
Snx31 G T 15: 36,525,687 Q289K probably benign Het
Tbc1d13 G A 2: 30,147,367 A254T probably damaging Het
Tek T C 4: 94,851,765 I750T probably damaging Het
Tet2 A T 3: 133,471,398 L1296* probably null Het
Tmem145 T A 7: 25,314,879 F459I probably damaging Het
Uba5 A T 9: 104,054,129 V247D possibly damaging Het
Vmn1r83 T C 7: 12,321,690 M147V probably benign Het
Vwde T C 6: 13,187,139 D783G probably damaging Het
Zfp609 A G 9: 65,701,005 S1198P probably benign 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
IGL03170:Pim1 APN 17 29491178 missense possibly damaging 0.87
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