Incidental Mutation 'R4844:G6pc3'
ID 374469
Institutional Source Beutler Lab
Gene Symbol G6pc3
Ensembl Gene ENSMUSG00000034793
Gene Name glucose 6 phosphatase, catalytic, 3
Synonyms 0710001K01Rik
MMRRC Submission 042457-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4844 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102080525-102084907 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 102084057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000077995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000070334] [ENSMUST00000078975] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000140962]
AlphaFold Q6NSQ9
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 null
Transcript: ENSMUST00000070334
SMART Domains Protein: ENSMUSP00000064276
Gene: ENSMUSG00000034793

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 null
Transcript: ENSMUST00000078975
SMART Domains Protein: ENSMUSP00000077995
Gene: ENSMUSG00000034793

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 noncoding transcript
Transcript: ENSMUST00000124594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145540
Predicted Effect probably benign
Transcript: ENSMUST00000124077
SMART Domains Protein: ENSMUSP00000116672
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 37 50 N/A INTRINSIC
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153178
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (68/70)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,634,824 (GRCm39) T147A probably benign Het
Acvrl1 T C 15: 101,033,409 (GRCm39) S99P probably damaging Het
Adamts3 T A 5: 89,825,675 (GRCm39) S1055C probably damaging Het
Aftph T C 11: 20,658,667 (GRCm39) probably benign Het
Aldh1a1 A G 19: 20,611,764 (GRCm39) K363E probably benign Het
Astn2 A G 4: 65,562,967 (GRCm39) V886A possibly damaging Het
Atad5 G A 11: 80,005,137 (GRCm39) probably null Het
C9orf72 A G 4: 35,213,565 (GRCm39) V31A possibly damaging Het
Ccnf G T 17: 24,449,331 (GRCm39) Y482* probably null Het
Cfap97 A G 8: 46,622,712 (GRCm39) D34G possibly damaging Het
Chst11 G T 10: 83,026,923 (GRCm39) E117* probably null Het
Cobl A T 11: 12,204,740 (GRCm39) L572Q probably benign Het
Coch G A 12: 51,649,477 (GRCm39) G263S probably damaging Het
Coq4 T C 2: 29,686,026 (GRCm39) I205T possibly damaging Het
Cyp3a13 A T 5: 137,915,813 (GRCm39) I62K probably benign Het
Cyp7a1 A G 4: 6,273,655 (GRCm39) S84P probably damaging Het
Dennd10 GTCT GT 19: 60,823,435 (GRCm39) probably null Het
Gm10576 T C 4: 100,911,707 (GRCm39) noncoding transcript Het
Gm17511 G A 7: 126,885,454 (GRCm39) noncoding transcript Het
Gnat2 T C 3: 108,002,831 (GRCm39) S80P probably damaging Het
Gpaa1 C T 15: 76,216,508 (GRCm39) probably benign Het
Gpr107 T A 2: 31,078,686 (GRCm39) probably null Het
Hormad1 T C 3: 95,478,242 (GRCm39) Y103H probably damaging Het
Ighv14-1 T G 12: 113,895,622 (GRCm39) Q101P probably damaging Het
Igsf9 A G 1: 172,324,737 (GRCm39) D885G probably benign Het
Il15ra G A 2: 11,723,082 (GRCm39) probably benign Het
Islr2 C T 9: 58,115,517 (GRCm39) probably benign Het
Jak3 A T 8: 72,134,299 (GRCm39) N467I possibly damaging Het
Jarid2 T C 13: 45,067,248 (GRCm39) V1023A probably damaging Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2c T C 5: 25,520,111 (GRCm39) T2000A probably benign Het
Lpxn A G 19: 12,810,536 (GRCm39) T327A probably damaging Het
Mxra8 A G 4: 155,927,151 (GRCm39) T362A probably benign Het
Myh6 A G 14: 55,184,651 (GRCm39) I1560T possibly damaging Het
Ndufv1 A G 19: 4,062,574 (GRCm39) S17P probably benign Het
Nwd1 A T 8: 73,393,742 (GRCm39) H335L probably damaging Het
Or1a1 A G 11: 74,086,902 (GRCm39) D191G probably damaging Het
Or2f1b T A 6: 42,739,394 (GRCm39) M136K probably damaging Het
Otop2 G A 11: 115,214,201 (GRCm39) probably null Het
Pwwp2b C A 7: 138,835,502 (GRCm39) S314R probably benign Het
Rfx7 C T 9: 72,500,524 (GRCm39) Q95* probably null Het
Serpine2 A T 1: 79,777,241 (GRCm39) L192* probably null Het
Smpdl3b T C 4: 132,465,369 (GRCm39) I322M probably damaging Het
Spata31d1b C T 13: 59,866,169 (GRCm39) R1106C possibly damaging Het
Sprr2k T G 3: 92,336,732 (GRCm39) probably null Het
St8sia1 T A 6: 142,774,996 (GRCm39) R194S possibly damaging Het
Sv2a T A 3: 96,095,695 (GRCm39) V337D probably damaging Het
Tars1 G A 15: 11,385,281 (GRCm39) R637W possibly damaging Het
Tcp11l2 G T 10: 84,449,555 (GRCm39) V507L probably benign Het
Tpr T C 1: 150,321,630 (GRCm39) Y2262H possibly damaging Het
Vars1 A G 17: 35,230,588 (GRCm39) E529G probably damaging Het
Vash2 C T 1: 190,710,691 (GRCm39) probably benign Het
Vmn1r194 T C 13: 22,429,223 (GRCm39) V280A probably benign Het
Vti1a A G 19: 55,380,297 (GRCm39) T142A probably damaging Het
Zfp111 C T 7: 23,898,801 (GRCm39) C270Y probably damaging Het
Zfp518a T A 19: 40,903,340 (GRCm39) Y1090N probably damaging Het
Zfp616 A T 11: 73,975,225 (GRCm39) Y498F probably benign Het
Other mutations in G6pc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:G6pc3 APN 11 102,083,931 (GRCm39) missense probably benign 0.01
PIT4378001:G6pc3 UTSW 11 102,080,827 (GRCm39) missense probably damaging 1.00
R1121:G6pc3 UTSW 11 102,080,768 (GRCm39) missense possibly damaging 0.49
R6736:G6pc3 UTSW 11 102,084,496 (GRCm39) missense possibly damaging 0.62
R8520:G6pc3 UTSW 11 102,083,934 (GRCm39) missense probably benign 0.02
R8871:G6pc3 UTSW 11 102,082,896 (GRCm39) missense probably damaging 1.00
R9105:G6pc3 UTSW 11 102,084,403 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGTCATTTCCCCAAACATCTTG -3'
(R):5'- GGAAGATGAGTCTTTGCCAGG -3'

Sequencing Primer
(F):5'- TTTCCCCAAACATCTTGAAACTG -3'
(R):5'- ATGAGTCTTTGCCAGGAGAGCC -3'
Posted On 2016-03-16