Incidental Mutation 'R4736:Gbe1'
ID 359288
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 041963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4736 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 70110837-70366604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70292141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 491 (A491V)
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: A491V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707
AA Change: A491V

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: A491V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707
AA Change: A491V

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: A491V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707
AA Change: A491V

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: A491V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707
AA Change: A491V

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,246 (GRCm39) I1145T probably damaging Het
Aadat T C 8: 60,993,140 (GRCm39) V360A probably benign Het
Abhd16a A T 17: 35,320,859 (GRCm39) T436S probably benign Het
Acbd5 G T 2: 22,989,596 (GRCm39) L406F probably damaging Het
Agrn G A 4: 156,256,858 (GRCm39) T1142M probably benign Het
Aig1 C A 10: 13,677,674 (GRCm39) W106L probably damaging Het
Akr1d1 T C 6: 37,534,535 (GRCm39) probably null Het
Ap1g1 G A 8: 110,581,714 (GRCm39) D658N possibly damaging Het
Arhgap45 A G 10: 79,862,006 (GRCm39) Y520C probably damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Asic5 C T 3: 81,907,116 (GRCm39) T47I possibly damaging Het
Cabp5 A G 7: 13,134,664 (GRCm39) probably null Het
Ccr6 A T 17: 8,474,896 (GRCm39) R34* probably null Het
Cdin1 A G 2: 115,412,369 (GRCm39) I2V probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Cmtr1 A G 17: 29,919,216 (GRCm39) E704G possibly damaging Het
Cyth3 G A 5: 143,670,234 (GRCm39) probably null Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dennd6b T C 15: 89,069,795 (GRCm39) H468R probably benign Het
Depdc5 A G 5: 33,132,666 (GRCm39) M1237V probably benign Het
Dpp6 A G 5: 27,917,657 (GRCm39) Y616C probably damaging Het
Dync2h1 A T 9: 7,006,862 (GRCm39) S3710T probably benign Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Emc3 G A 6: 113,508,310 (GRCm39) T45I possibly damaging Het
Esf1 T A 2: 139,966,891 (GRCm39) D685V probably damaging Het
Ezr A G 17: 7,008,975 (GRCm39) S366P probably benign Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Heca G A 10: 17,790,935 (GRCm39) Q12* probably null Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A T 8: 111,249,840 (GRCm39) Q2261L probably benign Het
Itgae G T 11: 73,005,706 (GRCm39) R290L possibly damaging Het
Kcna10 C A 3: 107,102,808 (GRCm39) L480I probably benign Het
Kif27 T C 13: 58,476,785 (GRCm39) T622A probably benign Het
Lama2 T C 10: 27,080,925 (GRCm39) N966S probably damaging Het
Mdfic A G 6: 15,741,019 (GRCm39) K38E possibly damaging Het
Med25 G A 7: 44,541,712 (GRCm39) A26V probably damaging Het
Mrpl19 A T 6: 81,941,329 (GRCm39) S77R probably damaging Het
Mtcl2 T A 2: 156,862,474 (GRCm39) D1485V probably damaging Het
Mybpc2 T C 7: 44,161,971 (GRCm39) D493G probably damaging Het
Myh4 A G 11: 67,131,746 (GRCm39) T69A probably benign Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Myo9b T C 8: 71,809,236 (GRCm39) L1815P probably damaging Het
Myom2 T A 8: 15,131,271 (GRCm39) L323Q probably damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nktr T A 9: 121,578,805 (GRCm39) probably benign Het
Nol10 A G 12: 17,405,288 (GRCm39) K88E probably damaging Het
Nol4 T C 18: 22,852,050 (GRCm39) D505G probably damaging Het
Nynrin T A 14: 56,101,454 (GRCm39) N374K probably damaging Het
Obscn A T 11: 58,954,362 (GRCm39) L3740Q probably damaging Het
Or5g23 T C 2: 85,438,327 (GRCm39) H309R probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pgm5 G A 19: 24,812,169 (GRCm39) A121V probably damaging Het
Pi4ka A T 16: 17,195,039 (GRCm39) Y120N probably benign Het
Rpl36al G A 12: 69,229,732 (GRCm39) A60V possibly damaging Het
Rspo4 T C 2: 151,685,054 (GRCm39) Y21H probably benign Het
Scube2 A G 7: 109,430,412 (GRCm39) V455A probably benign Het
Serpina1f T C 12: 103,659,805 (GRCm39) D159G probably damaging Het
Sf1 A G 19: 6,415,694 (GRCm39) D11G probably damaging Het
Siglecg T C 7: 43,067,332 (GRCm39) F633S probably benign Het
Skic2 A G 17: 35,067,173 (GRCm39) S89P possibly damaging Het
Slc22a13 T C 9: 119,022,698 (GRCm39) E501G probably damaging Het
Slc44a3 A G 3: 121,303,855 (GRCm39) S294P probably damaging Het
Smad3 T G 9: 63,664,842 (GRCm39) K40Q probably damaging Het
Stt3a T A 9: 36,661,008 (GRCm39) M268L probably benign Het
Taf4 A T 2: 179,566,287 (GRCm39) V817E probably damaging Het
Tgfbr1 A G 4: 47,383,835 (GRCm39) T58A probably benign Het
Trpc6 T C 9: 8,609,871 (GRCm39) V113A probably damaging Het
Ttll13 T A 7: 79,898,024 (GRCm39) probably null Het
Uba7 T C 9: 107,857,364 (GRCm39) L742P probably benign Het
Ulk2 A G 11: 61,724,261 (GRCm39) L174P probably damaging Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Unc80 A T 1: 66,688,831 (GRCm39) probably null Het
Usp34 T A 11: 23,343,749 (GRCm39) probably null Het
Vmn1r71 A T 7: 10,481,791 (GRCm39) V233D possibly damaging Het
Xpo6 T C 7: 125,739,755 (GRCm39) K439R probably benign Het
Xrn1 G T 9: 95,915,689 (GRCm39) G1271C probably damaging Het
Yes1 A T 5: 32,818,121 (GRCm39) E386V probably damaging Het
Zfp759 C A 13: 67,287,408 (GRCm39) H320N probably damaging Het
Zfp990 A T 4: 145,263,512 (GRCm39) H170L possibly 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
R0178:Gbe1 UTSW 16 70,275,274 (GRCm39) missense probably damaging 1.00
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
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'- TGTTCTCAGAAGCCCCTTCG -3'
(R):5'- TCCAAACCAGTTGCTTAACACATTG -3'

Sequencing Primer
(F):5'- AGAAGCCCCTTCGTCCTG -3'
(R):5'- CCATTTTAAGCACAGATTTACTTTGC -3'
Posted On 2015-11-11