Incidental Mutation 'R2137:Pgm1'
ID235870
Institutional Source Beutler Lab
Gene Symbol Pgm1
Ensembl Gene ENSMUSG00000029171
Gene Namephosphoglucomutase 1
SynonymsPgm-1, 3230402E02Rik
MMRRC Submission 040140-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2137 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location64092950-64128351 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 64116366 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 565 (M565L)
Ref Sequence ENSEMBL: ENSMUSP00000084582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087324]
Predicted Effect probably benign
Transcript: ENSMUST00000087324
AA Change: M565L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
AA Change: M565L

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:PGM_PMM_I 62 211 7.8e-37 PFAM
Pfam:PGM_PMM_II 235 344 1.9e-25 PFAM
Pfam:PGM_PMM_III 351 480 4.6e-15 PFAM
Pfam:PGM_PMM_IV 523 603 5.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197577
Meta Mutation Damage Score 0.142 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (60/62)
MGI Phenotype PHENOTYPE: Four electrophoretic variants are known, each with a 5-band pattern: the a allele in C57BL/6, BALB/c and AKR; b allele in DBA/2 and SJL; c allele in C3H/He; and d allele in 129/Re. Heterozygotes show a mixture of bands. Mice homozygous for a spontaneous null allele or ENU induced alleles are viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 C T 10: 81,646,309 T88I probably damaging Het
Atm A T 9: 53,453,375 V49D probably damaging Het
Bub1b G T 2: 118,636,718 E841* probably null Het
Ccdc129 A G 6: 55,889,189 Q189R probably damaging Het
Cdh22 G A 2: 165,116,394 probably benign Het
Cdh7 A T 1: 110,100,106 N527I probably damaging Het
Cog1 T C 11: 113,659,301 L262P probably damaging Het
Col22a1 T C 15: 72,006,948 H120R possibly damaging Het
Col4a2 T C 8: 11,433,749 S890P probably benign Het
Cubn T C 2: 13,336,167 I2248V probably benign Het
Evpl T C 11: 116,221,839 E1675G probably damaging Het
Faiml G A 9: 99,232,492 P115S probably benign Het
Fgg A T 3: 83,008,438 D62V possibly damaging Het
Gak C T 5: 108,606,877 probably null Het
Galntl6 C T 8: 58,535,905 probably null Het
Glyr1 T C 16: 5,018,482 Y501C probably benign Het
Gm9847 G T 12: 14,495,081 noncoding transcript Het
Gria4 T G 9: 4,427,026 probably benign Het
Il1f8 A G 2: 24,154,660 N24S probably benign Het
Il6st C A 13: 112,502,858 H606N possibly damaging Het
Kctd10 A G 5: 114,367,328 F202L probably damaging Het
Kif17 T A 4: 138,262,667 D55E probably damaging Het
Klf1 C T 8: 84,903,146 A200V possibly damaging Het
Klhl32 A T 4: 24,629,275 Y497* probably null Het
Kng2 G T 16: 22,997,326 probably benign Het
Lats1 T C 10: 7,701,847 V245A possibly damaging Het
Mbd3l2 A T 9: 18,444,958 D193V probably damaging Het
Ms4a18 A T 19: 10,997,331 V332D possibly damaging Het
Mss51 T C 14: 20,487,523 I47V probably benign Het
Myoz2 G A 3: 123,034,212 T19M probably benign Het
Nampt T A 12: 32,830,310 N67K probably benign Het
Ncor2 A T 5: 125,030,712 I1607K probably damaging Het
Nudt4 T C 10: 95,563,738 Q7R probably damaging Het
Olfr1475 A G 19: 13,479,809 Y130H probably damaging Het
Olfr1480 T A 19: 13,530,438 I255N probably damaging Het
Olfr870 T A 9: 20,171,167 I135F probably damaging Het
Phactr1 T G 13: 43,135,175 F639V possibly damaging Het
Plod3 C A 5: 136,988,717 R165S probably damaging Het
Polr2b T A 5: 77,320,346 N164K probably benign Het
Rcbtb2 G A 14: 73,162,051 G52S probably damaging Het
Rfc1 A G 5: 65,311,039 probably null Het
Rheb A G 5: 24,807,603 probably null Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Ripor2 G A 13: 24,721,834 probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Het
Scg3 A T 9: 75,676,810 D136E probably damaging Het
Slc10a4 C T 5: 73,007,580 L172F probably damaging Het
Slc35c2 A G 2: 165,281,379 Y113H probably damaging Het
Slc47a1 T A 11: 61,344,492 D505V probably benign Het
Snap29 C A 16: 17,428,249 D244E possibly damaging Het
Taar1 T C 10: 23,921,270 F289L probably benign Het
Thbs2 T A 17: 14,673,306 N871Y probably damaging Het
Tmem108 T A 9: 103,499,963 T96S possibly damaging Het
Tnk2 G T 16: 32,670,802 probably null Het
Trak1 T A 9: 121,472,962 M928K possibly damaging Het
Tuba3b A G 6: 145,618,833 I110V probably benign Het
Tyk2 A G 9: 21,110,985 probably benign Het
Ugt1a9 T A 1: 88,071,037 C70S probably benign Het
Vmn2r10 A T 5: 109,003,544 I68K possibly damaging Het
Wfs1 T C 5: 36,967,501 E682G probably damaging Het
Zfp213 T C 17: 23,559,507 probably null Het
Zfp809 T C 9: 22,235,138 V41A probably benign Het
Zfp831 A G 2: 174,705,746 K1574R possibly damaging Het
Other mutations in Pgm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Pgm1 APN 5 64108269 splice site probably benign
IGL01068:Pgm1 APN 5 64107796 missense probably damaging 0.99
IGL01112:Pgm1 APN 5 64102882 missense possibly damaging 0.86
IGL01634:Pgm1 APN 5 64100974 missense probably benign 0.01
IGL02513:Pgm1 APN 5 64102946 unclassified probably benign
R0255:Pgm1 UTSW 5 64112043 missense possibly damaging 0.93
R0268:Pgm1 UTSW 5 64105808 missense probably damaging 1.00
R0511:Pgm1 UTSW 5 64110555 missense probably damaging 1.00
R0722:Pgm1 UTSW 5 64107679 nonsense probably null
R0881:Pgm1 UTSW 5 64093008 missense unknown
R0924:Pgm1 UTSW 5 64112147 missense possibly damaging 0.90
R0930:Pgm1 UTSW 5 64112147 missense possibly damaging 0.90
R1773:Pgm1 UTSW 5 64107851 critical splice donor site probably null
R1777:Pgm1 UTSW 5 64127782 missense probably benign
R2244:Pgm1 UTSW 5 64106702 missense probably benign 0.00
R3946:Pgm1 UTSW 5 64112061 missense probably benign
R4301:Pgm1 UTSW 5 64103797 nonsense probably null
R4601:Pgm1 UTSW 5 64107727 missense probably benign 0.02
R4631:Pgm1 UTSW 5 64105947 splice site probably null
R4795:Pgm1 UTSW 5 64103874 missense probably damaging 1.00
R4871:Pgm1 UTSW 5 64103894 missense probably benign
R4893:Pgm1 UTSW 5 64105940 missense probably benign
R4907:Pgm1 UTSW 5 64103878 missense probably benign 0.00
R4915:Pgm1 UTSW 5 64100948 missense probably damaging 1.00
R5092:Pgm1 UTSW 5 64107749 missense possibly damaging 0.49
R5197:Pgm1 UTSW 5 64105832 missense possibly damaging 0.87
R5621:Pgm1 UTSW 5 64112038 nonsense probably null
R6311:Pgm1 UTSW 5 64116415 missense probably benign 0.05
R6651:Pgm1 UTSW 5 64112094 missense probably benign 0.07
R6731:Pgm1 UTSW 5 64100975 missense probably benign 0.27
R6885:Pgm1 UTSW 5 64103878 missense probably benign 0.00
R6919:Pgm1 UTSW 5 64097025 missense probably benign 0.11
R7211:Pgm1 UTSW 5 64105850 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAGTCTTCTCATTTTCCCAGGG -3'
(R):5'- GTTGGTGTCCCCATGATATCAC -3'

Sequencing Primer
(F):5'- GTGGCCCATATCCTCGTCTGG -3'
(R):5'- GATATCACCACAGTTTCTAACTAGGC -3'
Posted On2014-10-01