Incidental Mutation 'IGL03182:Pim1'
ID 412294
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 # IGL03182
Quality Score
Status
Chromosome 17
Chromosomal Location 29709759-29715085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29710740 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P06803
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: 34,780,435 (GRCm39) K469N probably damaging Het
Aldh2 A G 5: 121,718,787 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,619,580 (GRCm39) probably benign Het
Ankhd1 C T 18: 36,711,827 (GRCm39) T209I probably benign Het
Aox3 G A 1: 58,205,046 (GRCm39) V754I probably benign Het
Arfgef3 C T 10: 18,476,292 (GRCm39) R1509H probably damaging Het
Ccdc157 A G 11: 4,101,832 (GRCm39) S30P probably damaging Het
Cept1 T A 3: 106,411,866 (GRCm39) E369D probably damaging Het
Clcnka T C 4: 141,121,798 (GRCm39) Y236C probably damaging Het
Ddx42 A T 11: 106,138,353 (GRCm39) L717F probably benign Het
Dnah11 A T 12: 117,994,026 (GRCm39) I2340N probably damaging Het
Dsel T C 1: 111,787,868 (GRCm39) E889G probably damaging Het
Fasn T C 11: 120,703,552 (GRCm39) Y1560C probably damaging Het
Fermt2 A T 14: 45,699,225 (GRCm39) M623K possibly damaging Het
Gm21970 T A 16: 91,190,726 (GRCm39) S110T possibly damaging Het
Gm826 T A 2: 160,169,035 (GRCm39) R91S unknown Het
Lrrn3 A G 12: 41,504,020 (GRCm39) L99S probably damaging Het
Megf8 T A 7: 25,046,773 (GRCm39) M1552K possibly damaging Het
Mgll G T 6: 88,800,173 (GRCm39) V191F probably damaging Het
Nkapd1 T C 9: 50,523,698 (GRCm39) N50S possibly damaging Het
Nol8 C A 13: 49,817,557 (GRCm39) H778N probably damaging Het
Or1e26 T A 11: 73,480,268 (GRCm39) T99S probably benign Het
Or5b116 A C 19: 13,422,807 (GRCm39) T144P possibly damaging Het
Or8g30 A T 9: 39,230,277 (GRCm39) M211K probably benign Het
Or8k40 A T 2: 86,584,366 (GRCm39) S239T probably damaging Het
Pfkfb3 A T 2: 11,506,474 (GRCm39) I13N probably damaging Het
Pkd1 T C 17: 24,792,792 (GRCm39) L1493P probably damaging Het
Plb1 A T 5: 32,502,259 (GRCm39) probably benign Het
Plch1 A T 3: 63,610,015 (GRCm39) Y872* probably null Het
Rictor A G 15: 6,819,079 (GRCm39) D1434G probably benign Het
Rptor G A 11: 119,615,971 (GRCm39) G162R probably damaging Het
Serping1 T C 2: 84,596,162 (GRCm39) D424G probably damaging Het
Slit2 A G 5: 48,377,395 (GRCm39) I475V possibly damaging Het
Snx31 G T 15: 36,525,833 (GRCm39) Q289K probably benign Het
Tbc1d13 G A 2: 30,037,379 (GRCm39) A254T probably damaging Het
Tek T C 4: 94,740,002 (GRCm39) I750T probably damaging Het
Tet2 A T 3: 133,177,159 (GRCm39) L1296* probably null Het
Tmem145 T A 7: 25,014,304 (GRCm39) F459I probably damaging Het
Uba5 A T 9: 103,931,328 (GRCm39) V247D possibly damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vwde T C 6: 13,187,138 (GRCm39) D783G probably damaging Het
Zfp609 A G 9: 65,608,287 (GRCm39) S1198P probably benign Het
Other mutations in Pim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02076:Pim1 APN 17 29,712,777 (GRCm39) missense probably damaging 1.00
IGL02859:Pim1 APN 17 29,710,909 (GRCm39) missense probably damaging 1.00
IGL03170:Pim1 APN 17 29,710,152 (GRCm39) missense possibly damaging 0.87
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 2016-08-02