Incidental Mutation 'IGL02450:Bpgm'
ID 294122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpgm
Ensembl Gene ENSMUSG00000038871
Gene Name 2,3-bisphosphoglycerate mutase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02450
Quality Score
Status
Chromosome 6
Chromosomal Location 34453291-34482071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34464399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 39 (R39W)
Ref Sequence ENSEMBL: ENSMUSP00000115825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045372] [ENSMUST00000138668] [ENSMUST00000139067] [ENSMUST00000149131]
AlphaFold P15327
Predicted Effect probably damaging
Transcript: ENSMUST00000045372
AA Change: R39W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047393
Gene: ENSMUSG00000038871
AA Change: R39W

DomainStartEndE-ValueType
PGAM 5 195 3.23e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135743
Predicted Effect probably damaging
Transcript: ENSMUST00000138668
AA Change: R39W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115825
Gene: ENSMUSG00000038871
AA Change: R39W

DomainStartEndE-ValueType
PGAM 5 96 2.93e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139067
AA Change: R39W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120794
Gene: ENSMUSG00000038871
AA Change: R39W

DomainStartEndE-ValueType
PGAM 5 114 5.26e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149131
AA Change: R39W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121818
Gene: ENSMUSG00000038871
AA Change: R39W

DomainStartEndE-ValueType
PGAM 5 114 5.26e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,798,963 (GRCm39) *781W probably null Het
Adamts16 C A 13: 70,984,419 (GRCm39) R81S probably damaging Het
Aldh1l1 A G 6: 90,546,855 (GRCm39) D386G probably benign Het
Anxa6 G A 11: 54,885,767 (GRCm39) R393W probably damaging Het
Bdnf G A 2: 109,553,949 (GRCm39) V108I possibly damaging Het
Cd101 T C 3: 100,901,054 (GRCm39) E1006G probably damaging Het
Cd109 A T 9: 78,603,132 (GRCm39) E972V possibly damaging Het
Cdhr3 T A 12: 33,132,224 (GRCm39) Q133L probably benign Het
Cdk5r1 C T 11: 80,368,666 (GRCm39) A111V probably benign Het
Cnga4 A T 7: 105,054,955 (GRCm39) I77F probably damaging Het
Egfem1 G A 3: 29,711,417 (GRCm39) probably null Het
Fbxl21 T A 13: 56,674,766 (GRCm39) V39D possibly damaging Het
Gimap6 T C 6: 48,681,351 (GRCm39) I94M probably benign Het
Glis1 T C 4: 107,484,726 (GRCm39) V407A probably benign Het
Gm5784 C T 12: 19,437,970 (GRCm39) noncoding transcript Het
Gm9839 A T 1: 32,559,964 (GRCm39) probably benign Het
Heatr5a T A 12: 51,992,213 (GRCm39) M566L probably benign Het
Jph1 G A 1: 17,074,201 (GRCm39) P606S possibly damaging Het
Jup C T 11: 100,269,183 (GRCm39) C410Y probably damaging Het
Kif23 A G 9: 61,831,239 (GRCm39) M777T probably benign Het
Lifr G T 15: 7,220,246 (GRCm39) D959Y probably damaging Het
Lsm1 C A 8: 26,283,806 (GRCm39) L73I possibly damaging Het
Maneal G A 4: 124,750,928 (GRCm39) A276V probably benign Het
Myh4 A G 11: 67,142,635 (GRCm39) D932G probably damaging Het
Nipbl C T 15: 8,373,058 (GRCm39) V1063M probably damaging Het
Nlrx1 A G 9: 44,164,798 (GRCm39) V882A probably benign Het
Obox6 A G 7: 15,567,638 (GRCm39) C270R probably damaging Het
Or13a19 A G 7: 139,903,140 (GRCm39) H176R possibly damaging Het
Pard3b A G 1: 62,571,835 (GRCm39) I925V possibly damaging Het
Pdhx A G 2: 102,872,594 (GRCm39) S163P probably benign Het
Pdzrn3 T C 6: 101,331,461 (GRCm39) D271G probably damaging Het
Plec A G 15: 76,075,515 (GRCm39) I399T probably damaging Het
Pthlh T G 6: 147,158,666 (GRCm39) D98A possibly damaging Het
Spata31f3 A G 4: 42,874,127 (GRCm39) S14P probably benign Het
Spock3 T A 8: 63,698,249 (GRCm39) probably null Het
Tgtp2 C T 11: 48,950,317 (GRCm39) G85D probably benign Het
Tmem94 A G 11: 115,683,897 (GRCm39) D739G probably damaging Het
Washc5 G A 15: 59,204,166 (GRCm39) R706* probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zscan20 G T 4: 128,480,450 (GRCm39) D680E probably damaging Het
Other mutations in Bpgm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02673:Bpgm APN 6 34,464,769 (GRCm39) missense probably damaging 0.99
R0610:Bpgm UTSW 6 34,481,284 (GRCm39) missense possibly damaging 0.46
R0636:Bpgm UTSW 6 34,481,222 (GRCm39) missense probably benign
R1848:Bpgm UTSW 6 34,464,669 (GRCm39) missense probably benign 0.01
R5932:Bpgm UTSW 6 34,464,860 (GRCm39) missense probably damaging 1.00
R7230:Bpgm UTSW 6 34,464,502 (GRCm39) missense possibly damaging 0.92
R7531:Bpgm UTSW 6 34,481,223 (GRCm39) missense possibly damaging 0.71
Posted On 2015-04-16