Incidental Mutation 'IGL02437:Gbe1'
ID293348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gbe1
Ensembl Gene ENSMUSG00000022707
Gene Nameglucan (1,4-alpha-), branching enzyme 1
Synonyms2310045H19Rik, D16Ertd536e, 2810426P10Rik
Accession Numbers

Ncbi RefSeq: NM_028803.3; MGI:1921435

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02437
Quality Score
Status
Chromosome16
Chromosomal Location70313949-70569716 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 70434658 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023393] [ENSMUST00000163832] [ENSMUST00000170464] [ENSMUST00000171132]
Predicted Effect probably benign
Transcript: ENSMUST00000023393
SMART Domains Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707

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 benign
Transcript: ENSMUST00000163832
SMART Domains Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707

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 benign
Transcript: ENSMUST00000170464
SMART Domains Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707

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 benign
Transcript: ENSMUST00000171132
SMART Domains Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707

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
Validation Efficiency
MGI Phenotype Strain: 4868492; 5293612
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
BC004004 T C 17: 29,298,697 L295P probably damaging Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Brat1 C T 5: 140,712,808 A245V possibly damaging Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Hdgf C T 3: 87,914,485 R168C probably damaging Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pcna A T 2: 132,251,235 probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rhobtb2 T C 14: 69,795,916 E535G probably damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Samd8 A G 14: 21,775,423 Y212C probably benign Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Uap1l1 C T 2: 25,363,933 V304M probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I probably damaging Het
Other mutations in Gbe1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Gbe1 APN 16 70478369 missense probably damaging 1.00
IGL01783:Gbe1 APN 16 70401855 critical splice donor site probably null
IGL02635:Gbe1 APN 16 70569014 missense probably damaging 1.00
IGL02836:Gbe1 APN 16 70561095 missense possibly damaging 0.90
IGL03331:Gbe1 APN 16 70433578 missense probably damaging 1.00
IGL03138:Gbe1 UTSW 16 70529063 utr 3 prime probably benign
PIT4515001:Gbe1 UTSW 16 70441116 nonsense probably null
R0044:Gbe1 UTSW 16 70561132 nonsense probably null
R0044:Gbe1 UTSW 16 70561132 nonsense probably null
R0131:Gbe1 UTSW 16 70360852 splice site probably benign
R0178:Gbe1 UTSW 16 70478386 missense probably damaging 1.00
R0374:Gbe1 UTSW 16 70483914 missense probably benign 0.09
R1036:Gbe1 UTSW 16 70528887 missense probably damaging 1.00
R1162:Gbe1 UTSW 16 70381850 intron probably benign
R1759:Gbe1 UTSW 16 70488041 missense probably benign 0.11
R1780:Gbe1 UTSW 16 70495324 nonsense probably null
R1998:Gbe1 UTSW 16 70569041 missense probably damaging 1.00
R2001:Gbe1 UTSW 16 70528926 missense probably damaging 1.00
R2002:Gbe1 UTSW 16 70528926 missense probably damaging 1.00
R2269:Gbe1 UTSW 16 70436952 missense probably damaging 1.00
R2353:Gbe1 UTSW 16 70437021 splice site probably null
R2434:Gbe1 UTSW 16 70441212 missense probably damaging 1.00
R4114:Gbe1 UTSW 16 70483827 missense possibly damaging 0.64
R4528:Gbe1 UTSW 16 70478337 missense probably benign
R4736:Gbe1 UTSW 16 70495253 missense probably damaging 1.00
R4859:Gbe1 UTSW 16 70478401 missense probably damaging 1.00
R5884:Gbe1 UTSW 16 70528875 splice site probably null
R6222:Gbe1 UTSW 16 70529012 critical splice donor site probably null
R6527:Gbe1 UTSW 16 70433672 critical splice donor site probably null
R6770:Gbe1 UTSW 16 70314265 missense possibly damaging 0.86
R6770:Gbe1 UTSW 16 70401838 missense probably damaging 1.00
R6941:Gbe1 UTSW 16 70433556 small deletion probably benign
R7193:Gbe1 UTSW 16 70495370 missense probably damaging 1.00
R7232:Gbe1 UTSW 16 70436940 missense possibly damaging 0.91
R7343:Gbe1 UTSW 16 70361015 missense probably benign 0.09
R7810:Gbe1 UTSW 16 70527197 missense possibly damaging 0.92
R7822:Gbe1 UTSW 16 70433612 missense probably damaging 0.98
R7876:Gbe1 UTSW 16 70441171 missense probably benign
R8319:Gbe1 UTSW 16 70488076 missense probably benign 0.05
R8487:Gbe1 UTSW 16 70436988 missense probably damaging 1.00
Posted On2015-04-16