Incidental Mutation 'IGL00786:G6pc3'
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ID13486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G6pc3
Ensembl Gene ENSMUSG00000034793
Gene Nameglucose 6 phosphatase, catalytic, 3
Synonyms0710001K01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00786
Quality Score
Status
Chromosome11
Chromosomal Location102189620-102194081 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102193105 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 186 (M186V)
Ref Sequence ENSEMBL: ENSMUSP00000077995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000070334] [ENSMUST00000078975] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000140962]
Predicted Effect probably benign
Transcript: ENSMUST00000008999
SMART Domains Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 58 75 N/A INTRINSIC
Pfam:HDAC4_Gln 86 174 1e-30 PFAM
low complexity region 233 247 N/A INTRINSIC
low complexity region 322 337 N/A INTRINSIC
low complexity region 502 541 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
coiled coil region 583 617 N/A INTRINSIC
Pfam:Hist_deacetyl 704 1034 1.4e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070334
AA Change: M186V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000064276
Gene: ENSMUSG00000034793
AA Change: M186V

DomainStartEndE-ValueType
acidPPc 53 187 2.53e-15 SMART
transmembrane domain 196 218 N/A INTRINSIC
transmembrane domain 284 302 N/A INTRINSIC
transmembrane domain 317 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078975
AA Change: M186V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000077995
Gene: ENSMUSG00000034793
AA Change: M186V

DomainStartEndE-ValueType
acidPPc 53 187 2.53e-15 SMART
transmembrane domain 196 218 N/A INTRINSIC
transmembrane domain 284 302 N/A INTRINSIC
transmembrane domain 317 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107150
SMART Domains Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 39 56 N/A INTRINSIC
Pfam:HDAC4_Gln 66 155 5.1e-37 PFAM
low complexity region 214 228 N/A INTRINSIC
low complexity region 303 318 N/A INTRINSIC
low complexity region 483 522 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
coiled coil region 564 598 N/A INTRINSIC
Pfam:Hist_deacetyl 685 1015 9.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107151
SMART Domains Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
Pfam:HDAC4_Gln 67 156 1.1e-37 PFAM
low complexity region 215 229 N/A INTRINSIC
low complexity region 304 319 N/A INTRINSIC
low complexity region 484 523 N/A INTRINSIC
low complexity region 542 559 N/A INTRINSIC
coiled coil region 565 599 N/A INTRINSIC
Pfam:Hist_deacetyl 618 931 1.2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107152
SMART Domains Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
Pfam:HDAC4_Gln 67 156 3.7e-37 PFAM
low complexity region 215 229 N/A INTRINSIC
low complexity region 304 319 N/A INTRINSIC
low complexity region 484 523 N/A INTRINSIC
low complexity region 542 559 N/A INTRINSIC
coiled coil region 565 599 N/A INTRINSIC
Pfam:Hist_deacetyl 686 1016 6.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124077
SMART Domains Protein: ENSMUSP00000116672
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 37 50 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145490
Predicted Effect probably benign
Transcript: ENSMUST00000140962
SMART Domains Protein: ENSMUSP00000115435
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
PDB:2VQQ|B 1 71 3e-21 PDB
transmembrane domain 118 135 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutation of this gene results in females, but not males, that are growth retarded and weight less and exhibit elevated plasma glucagon levels but lowered plasma cholesterols after fasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Bpifa5 G A 2: 154,167,252 C238Y probably damaging Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in G6pc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4378001:G6pc3 UTSW 11 102190001 missense probably damaging 1.00
R1121:G6pc3 UTSW 11 102189942 missense possibly damaging 0.49
R4844:G6pc3 UTSW 11 102193231 splice site probably null
R6736:G6pc3 UTSW 11 102193670 missense possibly damaging 0.62
Posted On2012-12-06