Incidental Mutation 'IGL01634:Pgm1'
ID93528
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgm1
Ensembl Gene ENSMUSG00000029171
Gene Namephosphoglucomutase 1
SynonymsPgm-1, 3230402E02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01634
Quality Score
Status
Chromosome5
Chromosomal Location64092950-64128351 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64100974 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 101 (F101L)
Ref Sequence ENSEMBL: ENSMUSP00000084582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087324]
Predicted Effect probably benign
Transcript: ENSMUST00000087324
AA Change: F101L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000084582
Gene: ENSMUSG00000029171
AA Change: F101L

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 noncoding transcript
Transcript: ENSMUST00000175062
Predicted Effect probably benign
Transcript: ENSMUST00000199093
Coding Region Coverage
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,900,904 noncoding transcript Het
4933421I07Rik C T 7: 42,447,699 D63N probably benign Het
Alg9 C A 9: 50,775,377 probably null Het
Anln T C 9: 22,360,475 T695A probably benign Het
Aox4 G T 1: 58,221,930 D141Y possibly damaging Het
Arhgap21 C A 2: 20,914,644 Q84H probably benign Het
Arnt G A 3: 95,470,398 probably benign Het
Atp8a2 T A 14: 59,998,062 Y677F probably benign Het
Car6 C T 4: 150,198,153 V12M probably benign Het
Cd209d A T 8: 3,877,974 probably null Het
Ctnna1 T A 18: 35,223,448 V390E probably damaging Het
Cypt4 T A 9: 24,625,656 N147K possibly damaging Het
Dnah10 C A 5: 124,821,341 A3729E probably damaging Het
Dusp8 A G 7: 142,084,423 V156A probably benign Het
Ecm1 G A 3: 95,734,899 P458L probably damaging Het
Fat3 T G 9: 15,998,358 Y2116S probably damaging Het
Fscn3 T A 6: 28,430,538 Y236N probably damaging Het
Gaa G A 11: 119,274,076 S265N possibly damaging Het
Gas7 T C 11: 67,674,231 probably benign Het
Gbp8 T C 5: 105,018,572 K297R probably damaging Het
Gm1818 G A 12: 48,556,209 noncoding transcript Het
Gm5114 G T 7: 39,408,647 T516K probably benign Het
Hectd1 A G 12: 51,803,779 S165P probably damaging Het
Hoxb4 G T 11: 96,318,900 R44L probably damaging Het
Ivd G A 2: 118,876,382 R285H probably damaging Het
Krtap20-2 T C 16: 89,206,089 F59S unknown Het
Megf8 G A 7: 25,358,781 probably benign Het
Mgat4d A T 8: 83,368,116 M261L possibly damaging Het
Mlc1 A T 15: 88,974,718 probably benign Het
Mmp20 T A 9: 7,635,148 Y43* probably null Het
Morc3 G A 16: 93,873,237 V767I probably benign Het
Myo15 A G 11: 60,495,472 T1808A probably damaging Het
Notch4 T C 17: 34,572,588 F574L probably damaging Het
Npas3 G A 12: 53,947,163 V164M probably damaging Het
Nptx1 A G 11: 119,544,672 Y273H probably damaging Het
Oaf T C 9: 43,224,004 N159S probably damaging Het
Olfr1216 T A 2: 89,013,444 I207F probably damaging Het
Olfr519 A T 7: 108,894,085 F107L probably benign Het
Olfr994 A T 2: 85,430,439 L130H probably damaging Het
Pkd1l3 A C 8: 109,667,525 probably null Het
Plcd1 C T 9: 119,073,789 R527H probably damaging Het
Rexo2 C T 9: 48,468,915 E206K probably damaging Het
Ropn1 C A 16: 34,666,778 T28N possibly damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpgrip1l C A 8: 91,252,543 S998I probably benign Het
Rpgrip1l T A 8: 91,252,544 S998C probably benign Het
Scap T C 9: 110,378,789 probably null Het
Sec23b T C 2: 144,559,230 Y4H probably damaging Het
Sfrp4 C A 13: 19,623,630 D66E possibly damaging Het
Slc25a36 T C 9: 97,080,481 T13A probably benign Het
Synpr A T 14: 13,608,576 I119F possibly damaging Het
Tamm41 A C 6: 115,016,098 H109Q probably benign Het
Tet1 A T 10: 62,878,588 I476K possibly damaging Het
Tg A T 15: 66,729,566 I142F probably benign Het
Thada A T 17: 84,393,358 probably null Het
Triobp T C 15: 78,993,368 L1654P probably damaging Het
Trpm7 A G 2: 126,826,818 V726A probably damaging Het
Txndc15 T G 13: 55,721,625 V197G probably damaging Het
Ubr3 A T 2: 69,973,572 T1169S probably benign Het
Uhmk1 C T 1: 170,207,113 probably null Het
Vmn2r16 T A 5: 109,340,311 M350K probably benign Het
Vmn2r77 G A 7: 86,811,649 V728I probably benign Het
Wipf1 G A 2: 73,447,881 P7S unknown Het
Zswim3 A G 2: 164,820,002 D134G probably 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
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
R2137:Pgm1 UTSW 5 64116366 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
R7631:Pgm1 UTSW 5 64108179 missense possibly damaging 0.90
R7982:Pgm1 UTSW 5 64100959 missense probably damaging 1.00
R8070:Pgm1 UTSW 5 64112082 missense probably benign 0.00
R8161:Pgm1 UTSW 5 64112160 missense probably damaging 1.00
R8181:Pgm1 UTSW 5 64112124 missense possibly damaging 0.83
Posted On2013-12-09