Incidental Mutation 'R0178:Gbe1'
ID 23787
Institutional Source Beutler Lab
Gene Symbol Gbe1
Ensembl Gene ENSMUSG00000022707
Gene Name 1,4-alpha-glucan branching enzyme 1
Synonyms 2310045H19Rik, D16Ertd536e, 2810426P10Rik
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0178 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 16
Chromosomal Location 70110837-70366604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70275274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 358 (G358D)
Ref Sequence ENSEMBL: ENSMUSP00000127642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023393] [ENSMUST00000163832] [ENSMUST00000170464] [ENSMUST00000171132]
AlphaFold Q9D6Y9
Predicted Effect probably damaging
Transcript: ENSMUST00000023393
AA Change: G358D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707
AA Change: G358D

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
Pfam:CBM_48 75 161 9.4e-17 PFAM
Pfam:Alpha-amylase 218 336 1.1e-17 PFAM
Pfam:Alpha-amylase_C 603 698 1.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163832
AA Change: G358D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707
AA Change: G358D

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
Pfam:CBM_48 75 161 6e-19 PFAM
Pfam:Alpha-amylase 220 337 5.9e-14 PFAM
Pfam:Alpha-amylase_C 603 698 2.2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164300
Predicted Effect probably damaging
Transcript: ENSMUST00000170464
AA Change: G358D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707
AA Change: G358D

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
Pfam:CBM_48 75 161 9.4e-17 PFAM
Pfam:Alpha-amylase 218 336 1.1e-17 PFAM
Pfam:Alpha-amylase_C 603 698 1.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171132
AA Change: G358D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707
AA Change: G358D

DomainStartEndE-ValueType
low complexity region 2 9 N/A INTRINSIC
Pfam:CBM_48 75 161 1.8e-17 PFAM
Pfam:Alpha-amylase 218 338 2.7e-18 PFAM
Pfam:Alpha-amylase_C 603 650 4.1e-12 PFAM
Meta Mutation Damage Score 0.9368 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit mid-to-late gestation lethality, decreased heart rate, glycogen storage defects, and ventricles that were small, hypertrabeculated, and noncompacted. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(3) Chemically induced(1)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Ggt6 A G 11: 72,327,644 (GRCm39) H150R possibly damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Nrg3 A T 14: 38,098,413 (GRCm39) H480Q probably damaging Het
Or52b2 G A 7: 104,986,129 (GRCm39) R265C probably benign Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Sh2d2a A T 3: 87,756,730 (GRCm39) T192S probably benign Het
Slc27a1 T C 8: 72,037,106 (GRCm39) Y417H possibly damaging Het
Slc6a1 T G 6: 114,281,813 (GRCm39) I32S possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Gbe1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Gbe1 APN 16 70,198,743 (GRCm39) critical splice donor site probably null
IGL01783:Gbe1 APN 16 70,275,257 (GRCm39) missense probably damaging 1.00
IGL02437:Gbe1 APN 16 70,231,546 (GRCm39) splice site probably benign
IGL02635:Gbe1 APN 16 70,365,902 (GRCm39) missense probably damaging 1.00
IGL02836:Gbe1 APN 16 70,357,983 (GRCm39) missense possibly damaging 0.90
IGL03331:Gbe1 APN 16 70,230,466 (GRCm39) missense probably damaging 1.00
IGL03138:Gbe1 UTSW 16 70,325,951 (GRCm39) utr 3 prime probably benign
PIT4515001:Gbe1 UTSW 16 70,238,004 (GRCm39) nonsense probably null
R0044:Gbe1 UTSW 16 70,358,020 (GRCm39) nonsense probably null
R0044:Gbe1 UTSW 16 70,358,020 (GRCm39) nonsense probably null
R0131:Gbe1 UTSW 16 70,157,740 (GRCm39) splice site probably benign
R0374:Gbe1 UTSW 16 70,280,802 (GRCm39) missense probably benign 0.09
R1036:Gbe1 UTSW 16 70,325,775 (GRCm39) missense probably damaging 1.00
R1162:Gbe1 UTSW 16 70,178,738 (GRCm39) intron probably benign
R1759:Gbe1 UTSW 16 70,284,929 (GRCm39) missense probably benign 0.11
R1780:Gbe1 UTSW 16 70,292,212 (GRCm39) nonsense probably null
R1998:Gbe1 UTSW 16 70,365,929 (GRCm39) missense probably damaging 1.00
R2001:Gbe1 UTSW 16 70,325,814 (GRCm39) missense probably damaging 1.00
R2002:Gbe1 UTSW 16 70,325,814 (GRCm39) missense probably damaging 1.00
R2269:Gbe1 UTSW 16 70,233,840 (GRCm39) missense probably damaging 1.00
R2353:Gbe1 UTSW 16 70,233,909 (GRCm39) splice site probably null
R2434:Gbe1 UTSW 16 70,238,100 (GRCm39) missense probably damaging 1.00
R4114:Gbe1 UTSW 16 70,280,715 (GRCm39) missense possibly damaging 0.64
R4528:Gbe1 UTSW 16 70,275,225 (GRCm39) missense probably benign
R4736:Gbe1 UTSW 16 70,292,141 (GRCm39) missense probably damaging 1.00
R4859:Gbe1 UTSW 16 70,275,289 (GRCm39) missense probably damaging 1.00
R5884:Gbe1 UTSW 16 70,325,763 (GRCm39) splice site probably null
R6222:Gbe1 UTSW 16 70,325,900 (GRCm39) critical splice donor site probably null
R6527:Gbe1 UTSW 16 70,230,560 (GRCm39) critical splice donor site probably null
R6770:Gbe1 UTSW 16 70,198,726 (GRCm39) missense probably damaging 1.00
R6770:Gbe1 UTSW 16 70,111,153 (GRCm39) missense possibly damaging 0.86
R6941:Gbe1 UTSW 16 70,230,444 (GRCm39) small deletion probably benign
R7193:Gbe1 UTSW 16 70,292,258 (GRCm39) missense probably damaging 1.00
R7232:Gbe1 UTSW 16 70,233,828 (GRCm39) missense possibly damaging 0.91
R7343:Gbe1 UTSW 16 70,157,903 (GRCm39) missense probably benign 0.09
R7810:Gbe1 UTSW 16 70,324,085 (GRCm39) missense possibly damaging 0.92
R7822:Gbe1 UTSW 16 70,230,500 (GRCm39) missense probably damaging 0.98
R7876:Gbe1 UTSW 16 70,238,059 (GRCm39) missense probably benign
R8319:Gbe1 UTSW 16 70,284,964 (GRCm39) missense probably benign 0.05
R8487:Gbe1 UTSW 16 70,233,876 (GRCm39) missense probably damaging 1.00
R8958:Gbe1 UTSW 16 70,275,210 (GRCm39) missense probably damaging 1.00
R9058:Gbe1 UTSW 16 70,324,059 (GRCm39) missense possibly damaging 0.82
R9231:Gbe1 UTSW 16 70,284,989 (GRCm39) missense possibly damaging 0.96
R9358:Gbe1 UTSW 16 70,238,127 (GRCm39) missense probably benign 0.00
R9429:Gbe1 UTSW 16 70,292,203 (GRCm39) missense probably benign 0.01
R9562:Gbe1 UTSW 16 70,198,664 (GRCm39) missense probably benign 0.00
R9565:Gbe1 UTSW 16 70,198,664 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTACGTGTCTCCTGAATATCCTGCTT -3'
(R):5'- GGTCAGTCTAGCATATCCAGCAGTCTT -3'

Sequencing Primer
(F):5'- CCATAATCCAAACACGTGCTATG -3'
(R):5'- TGATAGCAGCAGAAATGTCTACC -3'
Posted On 2013-04-16