Incidental Mutation 'R7229:Ganc'
ID 562331
Institutional Source Beutler Lab
Gene Symbol Ganc
Ensembl Gene ENSMUSG00000062646
Gene Name glucosidase, alpha; neutral C
Synonyms 5830445O15Rik
MMRRC Submission 045301-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.686) question?
Stock # R7229 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 120403896-120461700 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120427775 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 201 (F201L)
Ref Sequence ENSEMBL: ENSMUSP00000116898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135074]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000135074
AA Change: F201L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646
AA Change: F201L

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
Pfam:Gal_mutarotas_2 221 292 2.3e-21 PFAM
Pfam:Glyco_hydro_31 333 778 2.5e-137 PFAM
Meta Mutation Damage Score 0.1488 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,595,352 (GRCm38) E122G probably benign Het
Adamts2 T C 11: 50,791,820 (GRCm38) Y880H probably damaging Het
Atp13a4 A G 16: 29,420,905 (GRCm38) S830P probably benign Het
Atp1a3 T A 7: 24,987,985 (GRCm38) Q696L probably benign Het
Brox G A 1: 183,291,959 (GRCm38) R85* probably null Het
C130073F10Rik T C 4: 101,890,242 (GRCm38) I197V probably benign Het
Cand2 G A 6: 115,791,192 (GRCm38) V433M probably damaging Het
Cep83 A G 10: 94,719,665 (GRCm38) K74E probably damaging Het
Chrng A T 1: 87,209,444 (GRCm38) T275S probably benign Het
Clca2 T C 3: 145,084,108 (GRCm38) D489G probably damaging Het
Cmtr1 A G 17: 29,695,424 (GRCm38) probably null Het
Cnga1 T C 5: 72,618,249 (GRCm38) N43S probably benign Het
Cog8 A T 8: 107,056,352 (GRCm38) C102S probably damaging Het
Cpsf3 G A 12: 21,296,737 (GRCm38) probably null Het
Cyp26b1 G A 6: 84,577,150 (GRCm38) Q162* probably null Het
Elmod3 A G 6: 72,594,753 (GRCm38) F14S probably benign Het
Eps8 A G 6: 137,539,356 (GRCm38) S9P probably benign Het
Fam105a G A 15: 27,658,187 (GRCm38) T199M probably benign Het
Fam184b T C 5: 45,584,175 (GRCm38) Q238R probably damaging Het
Fbxw7 T C 3: 84,977,369 (GRCm38) L654S unknown Het
Foxp1 A T 6: 98,935,412 (GRCm38) L580Q unknown Het
Galr1 A G 18: 82,405,664 (GRCm38) S163P probably damaging Het
Gin1 T C 1: 97,785,151 (GRCm38) F310L probably benign Het
Grik2 A T 10: 49,101,416 (GRCm38) probably null Het
Haus1 A T 18: 77,764,134 (GRCm38) F94I probably benign Het
Hcn4 A G 9: 58,853,399 (GRCm38) Y409C unknown Het
Hspa1l A G 17: 34,977,255 (GRCm38) K90R probably benign Het
Icam5 T C 9: 21,037,001 (GRCm38) S702P possibly damaging Het
Ifnar1 A G 16: 91,499,556 (GRCm38) H315R probably benign Het
Klra9 T C 6: 130,191,261 (GRCm38) H14R probably damaging Het
Krt78 A G 15: 101,947,394 (GRCm38) Y661H probably benign Het
Krtap11-1 T C 16: 89,570,925 (GRCm38) T69A possibly damaging Het
L3mbtl3 C A 10: 26,292,662 (GRCm38) S598I unknown Het
Lama1 A T 17: 67,752,446 (GRCm38) D608V Het
Lrrc55 G A 2: 85,196,440 (GRCm38) T80I probably damaging Het
Lyst A T 13: 13,643,509 (GRCm38) T1255S probably benign Het
Magi2 T C 5: 20,465,588 (GRCm38) V310A probably damaging Het
Med23 C A 10: 24,902,004 (GRCm38) A750D probably benign Het
Mmp2 G A 8: 92,831,786 (GRCm38) R161Q probably damaging Het
Myo15 A T 11: 60,496,495 (GRCm38) I733F probably benign Het
Ncan A T 8: 70,100,311 (GRCm38) F1090L possibly damaging Het
Olfr701 T G 7: 106,818,995 (GRCm38) V304G probably damaging Het
Pafah1b1 A G 11: 74,682,278 (GRCm38) I320T probably damaging Het
Pcdhb1 T A 18: 37,266,687 (GRCm38) Y564N probably damaging Het
Pear1 A G 3: 87,750,289 (GRCm38) S988P probably benign Het
Pgam2 A C 11: 5,803,013 (GRCm38) V194G probably damaging Het
Plvap A T 8: 71,511,577 (GRCm38) I47N probably damaging Het
Prdx6 A T 1: 161,247,297 (GRCm38) L71H probably damaging Het
Psmb11 G A 14: 54,625,951 (GRCm38) V209M probably damaging Het
Ptprn2 G A 12: 117,227,225 (GRCm38) probably null Het
Rcn2 T A 9: 56,057,479 (GRCm38) N240K probably benign Het
Rsad2 A T 12: 26,454,123 (GRCm38) Y136N probably damaging Het
Slc12a4 T G 8: 105,946,737 (GRCm38) Q734P probably benign Het
Smarcc2 T A 10: 128,488,048 (GRCm38) M1085K unknown Het
Smg1 A T 7: 118,176,955 (GRCm38) C1371S probably benign Het
Spg11 A T 2: 122,108,104 (GRCm38) F456L probably damaging Het
Srsf10 C T 4: 135,856,217 (GRCm38) probably benign Het
Stxbp5 T C 10: 9,798,187 (GRCm38) Y4C probably damaging Het
Tdrd12 T A 7: 35,480,280 (GRCm38) D881V unknown Het
Tmem171 T C 13: 98,692,625 (GRCm38) T6A probably benign Het
Tmem220 T C 11: 67,026,163 (GRCm38) L55P unknown Het
Ttn G T 2: 76,846,781 (GRCm38) P11037Q unknown Het
Tulp4 C T 17: 6,231,780 (GRCm38) H695Y probably damaging Het
Usp47 T C 7: 112,092,877 (GRCm38) S849P probably benign Het
Vcan G A 13: 89,705,270 (GRCm38) P524S possibly damaging Het
Vmn1r18 A G 6: 57,390,098 (GRCm38) M157T probably benign Het
Vmn2r109 A T 17: 20,540,963 (GRCm38) C711S possibly damaging Het
Wasf3 C T 5: 146,455,653 (GRCm38) R178C probably damaging Het
Wdr76 G A 2: 121,528,920 (GRCm38) V231I probably damaging Het
Xirp2 A T 2: 67,525,551 (GRCm38) N3552I probably damaging Het
Zfp804a A G 2: 82,258,625 (GRCm38) T933A probably benign Het
Zmynd8 A G 2: 165,858,053 (GRCm38) probably null Het
Zranb3 A T 1: 128,040,893 (GRCm38) I95K probably benign Het
Other mutations in Ganc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Ganc APN 2 120,441,598 (GRCm38) missense probably damaging 1.00
IGL00913:Ganc APN 2 120,439,452 (GRCm38) splice site probably benign
IGL01077:Ganc APN 2 120,446,515 (GRCm38) missense possibly damaging 0.50
IGL01773:Ganc APN 2 120,459,884 (GRCm38) missense possibly damaging 0.87
IGL01812:Ganc APN 2 120,411,526 (GRCm38) missense probably benign 0.00
IGL02029:Ganc APN 2 120,459,857 (GRCm38) missense probably benign 0.00
IGL02067:Ganc APN 2 120,406,304 (GRCm38) missense probably benign 0.16
IGL02290:Ganc APN 2 120,448,423 (GRCm38) missense possibly damaging 0.90
IGL02355:Ganc APN 2 120,433,757 (GRCm38) missense probably damaging 1.00
IGL02362:Ganc APN 2 120,433,757 (GRCm38) missense probably damaging 1.00
IGL02553:Ganc APN 2 120,458,134 (GRCm38) missense probably benign
IGL02808:Ganc APN 2 120,411,511 (GRCm38) missense probably benign 0.00
IGL02966:Ganc APN 2 120,433,648 (GRCm38) missense probably damaging 1.00
IGL03356:Ganc APN 2 120,435,288 (GRCm38) missense probably benign 0.22
IGL03405:Ganc APN 2 120,433,766 (GRCm38) missense probably damaging 1.00
ingenuous UTSW 2 120,444,149 (GRCm38) missense probably damaging 1.00
R0464:Ganc UTSW 2 120,436,694 (GRCm38) missense probably benign 0.07
R0511:Ganc UTSW 2 120,448,401 (GRCm38) nonsense probably null
R0932:Ganc UTSW 2 120,458,129 (GRCm38) missense probably damaging 0.99
R1467:Ganc UTSW 2 120,430,928 (GRCm38) splice site probably benign
R1902:Ganc UTSW 2 120,446,482 (GRCm38) missense probably damaging 1.00
R2087:Ganc UTSW 2 120,457,257 (GRCm38) missense probably damaging 1.00
R4668:Ganc UTSW 2 120,431,067 (GRCm38) missense probably benign 0.02
R4669:Ganc UTSW 2 120,431,067 (GRCm38) missense probably benign 0.02
R4725:Ganc UTSW 2 120,435,273 (GRCm38) missense probably damaging 0.99
R4735:Ganc UTSW 2 120,436,623 (GRCm38) splice site silent
R4738:Ganc UTSW 2 120,452,594 (GRCm38) missense probably damaging 0.97
R4839:Ganc UTSW 2 120,459,823 (GRCm38) missense probably benign
R4951:Ganc UTSW 2 120,456,047 (GRCm38) missense probably benign 0.00
R5841:Ganc UTSW 2 120,411,539 (GRCm38) missense possibly damaging 0.65
R5997:Ganc UTSW 2 120,430,605 (GRCm38) missense possibly damaging 0.55
R6142:Ganc UTSW 2 120,430,737 (GRCm38) critical splice donor site probably null
R6378:Ganc UTSW 2 120,433,826 (GRCm38) missense probably damaging 1.00
R6711:Ganc UTSW 2 120,450,839 (GRCm38) missense possibly damaging 0.74
R6777:Ganc UTSW 2 120,444,149 (GRCm38) missense probably damaging 1.00
R7235:Ganc UTSW 2 120,433,717 (GRCm38) missense probably damaging 1.00
R7241:Ganc UTSW 2 120,441,529 (GRCm38) missense probably damaging 1.00
R7326:Ganc UTSW 2 120,430,599 (GRCm38) missense probably damaging 1.00
R7567:Ganc UTSW 2 120,456,101 (GRCm38) missense probably benign 0.01
R7685:Ganc UTSW 2 120,433,792 (GRCm38) missense probably damaging 1.00
R7736:Ganc UTSW 2 120,433,814 (GRCm38) missense possibly damaging 0.83
R7784:Ganc UTSW 2 120,436,668 (GRCm38) nonsense probably null
R7955:Ganc UTSW 2 120,430,700 (GRCm38) missense probably damaging 1.00
R8222:Ganc UTSW 2 120,446,452 (GRCm38) missense probably damaging 1.00
R8247:Ganc UTSW 2 120,436,700 (GRCm38) missense probably null 0.52
R8306:Ganc UTSW 2 120,422,079 (GRCm38) missense probably benign 0.02
R9282:Ganc UTSW 2 120,459,900 (GRCm38) missense probably benign
X0027:Ganc UTSW 2 120,448,450 (GRCm38) missense probably damaging 1.00
Z1177:Ganc UTSW 2 120,433,794 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAATGTGGACTCATATTCTGTCTTT -3'
(R):5'- TTAGGTGCCAAAGCTCAAGG -3'

Sequencing Primer
(F):5'- CGGGGATTAAACCTGAGTTGTCAATC -3'
(R):5'- CTATCTATGCTACTGGGGATTGAAC -3'
Posted On 2019-06-26