Incidental Mutation 'R0012:Mgam'
ID 32553
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 038307-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R0012 (G1)
Quality Score 218
Status Validated
Chromosome 6
Chromosomal Location 40605765-40746057 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 40742190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148] [ENSMUST00000202779] [ENSMUST00000202966]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000071535
SMART Domains Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
PD 63 111 1.81e-8 SMART
Pfam:NtCtMGAM_N 124 233 6.2e-36 PFAM
Pfam:Glyco_hydro_31 323 795 3.4e-145 PFAM
PD 924 977 4.52e-9 SMART
Pfam:NtCtMGAM_N 988 1101 1.5e-30 PFAM
Blast:ANK 1141 1171 1e-7 BLAST
Pfam:Glyco_hydro_31 1189 1691 2e-139 PFAM
low complexity region 1776 1791 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000201148
SMART Domains Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
PD 63 111 1.81e-8 SMART
Pfam:NtCtMGAM_N 124 233 6.2e-36 PFAM
Pfam:Glyco_hydro_31 323 795 3.4e-145 PFAM
PD 924 977 4.52e-9 SMART
Pfam:NtCtMGAM_N 988 1101 1.5e-30 PFAM
Blast:ANK 1141 1171 1e-7 BLAST
Pfam:Glyco_hydro_31 1189 1691 2e-139 PFAM
low complexity region 1776 1791 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202775
Predicted Effect probably null
Transcript: ENSMUST00000202779
SMART Domains Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587

DomainStartEndE-ValueType
Pfam:Glyco_hydro_31 2 170 1.4e-53 PFAM
PD 297 350 1.4e-14 SMART
Pfam:NtCtMGAM_N 361 474 1.5e-26 PFAM
Blast:ANK 514 544 7e-8 BLAST
Pfam:Glyco_hydro_31 562 1064 2.2e-137 PFAM
low complexity region 1149 1164 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202966
SMART Domains Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587

DomainStartEndE-ValueType
internal_repeat_1 2 88 2.6e-19 PROSPERO
PD 178 231 1.4e-14 SMART
Pfam:NtCtMGAM_N 242 355 1.1e-26 PFAM
Blast:ANK 395 425 6e-8 BLAST
Pfam:Glyco_hydro_31 443 945 1.3e-137 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 98% (81/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam33 A T 2: 130,894,840 (GRCm39) L687Q probably damaging Het
Adap1 A G 5: 139,293,489 (GRCm39) probably benign Het
Add2 T A 6: 86,075,610 (GRCm39) V253E probably damaging Het
Agtr1a A T 13: 30,565,732 (GRCm39) I266F probably damaging Het
Anxa9 A G 3: 95,215,406 (GRCm39) probably benign Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
Bnip3 A G 7: 138,500,401 (GRCm39) probably benign Het
Brwd1 A C 16: 95,860,852 (GRCm39) S311R probably damaging Het
C2cd3 G A 7: 100,067,729 (GRCm39) V871M possibly damaging Het
Cacul1 A G 19: 60,552,691 (GRCm39) W145R probably damaging Het
Celf5 C A 10: 81,305,346 (GRCm39) V141L probably damaging Het
Cfap206 C A 4: 34,714,519 (GRCm39) L392F possibly damaging Het
Chd2 G T 7: 73,105,267 (GRCm39) T192K probably damaging Het
Chrna10 T C 7: 101,764,264 (GRCm39) N40S possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Clspn T A 4: 126,458,722 (GRCm39) probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col5a3 A T 9: 20,688,404 (GRCm39) probably benign Het
Copb1 T A 7: 113,836,643 (GRCm39) K366N probably damaging Het
Cul9 G A 17: 46,849,436 (GRCm39) R570C probably benign Het
Cyp2c70 A T 19: 40,175,687 (GRCm39) L7Q probably null Het
Dock2 T C 11: 34,674,622 (GRCm39) E10G possibly damaging Het
Dpysl4 T G 7: 138,677,799 (GRCm39) I412S probably benign Het
Eaf2 T A 16: 36,628,536 (GRCm39) probably benign Het
Fasl T C 1: 161,615,733 (GRCm39) D41G probably benign Het
Fat2 A G 11: 55,153,697 (GRCm39) V3505A probably benign Het
Fbxo24 A G 5: 137,620,256 (GRCm39) F101S probably damaging Het
Fdft1 T C 14: 63,415,147 (GRCm39) I28M probably benign Het
Gcnt3 T C 9: 69,941,367 (GRCm39) I400M probably benign Het
Get3 T C 8: 85,751,725 (GRCm39) probably benign Het
Gpd2 T A 2: 57,228,880 (GRCm39) M228K probably damaging Het
Gsap T A 5: 21,431,227 (GRCm39) probably benign Het
Hipk1 A G 3: 103,670,996 (GRCm39) M467T probably damaging Het
Hmgb4 T A 4: 128,154,518 (GRCm39) I17F probably damaging Het
Ints10 C A 8: 69,260,127 (GRCm39) L284M probably benign Het
Kif17 T G 4: 138,021,059 (GRCm39) S606A probably damaging Het
Lifr C A 15: 7,205,089 (GRCm39) T442K possibly damaging Het
Lypd4 A G 7: 24,564,757 (GRCm39) L127P probably damaging Het
Lyst A G 13: 13,862,279 (GRCm39) H2605R probably benign Het
Map3k4 A G 17: 12,457,076 (GRCm39) S1289P probably damaging Het
Mob1b G A 5: 88,903,943 (GRCm39) probably benign Het
Mrgpra1 A G 7: 46,985,218 (GRCm39) S154P probably damaging Het
Ms4a4c C A 19: 11,396,344 (GRCm39) probably benign Het
Mthfd2l A T 5: 91,109,242 (GRCm39) H224L probably damaging Het
Myh8 T C 11: 67,190,847 (GRCm39) Y1350H probably benign Het
Nectin2 T C 7: 19,464,669 (GRCm39) probably benign Het
Nos1 A C 5: 118,031,967 (GRCm39) N305T probably damaging Het
Ogfrl1 T A 1: 23,409,206 (GRCm39) Q340L possibly damaging Het
Or2aj5 T C 16: 19,425,190 (GRCm39) N76S probably benign Het
Or4f62 A T 2: 111,987,171 (GRCm39) N292Y possibly damaging Het
Or6k14 T G 1: 173,927,773 (GRCm39) F250V probably damaging Het
Or9i1 C A 19: 13,839,187 (GRCm39) T10K probably damaging Het
Orc1 T C 4: 108,452,843 (GRCm39) probably null Het
Plekhg5 C A 4: 152,189,207 (GRCm39) D249E probably benign Het
Plet1 A G 9: 50,410,430 (GRCm39) I74V probably benign Het
Psmd2 T A 16: 20,480,434 (GRCm39) D718E probably damaging Het
Rab33b G T 3: 51,391,737 (GRCm39) probably benign Het
Rae1 T A 2: 172,844,466 (GRCm39) F4I unknown Het
Ralgapa2 A G 2: 146,254,672 (GRCm39) Y821H probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Sharpin G T 15: 76,232,543 (GRCm39) P156T possibly damaging Het
Slc38a4 C T 15: 96,897,510 (GRCm39) R435H probably damaging Het
Snrnp200 T C 2: 127,070,469 (GRCm39) V1061A probably benign Het
Suclg1 A G 6: 73,247,980 (GRCm39) T234A possibly damaging Het
Swsap1 T C 9: 21,868,318 (GRCm39) C197R probably benign Het
Tbx15 A G 3: 99,259,412 (GRCm39) T428A probably benign Het
Tet2 T C 3: 133,182,319 (GRCm39) Y1215C probably damaging Het
Tjp1 A G 7: 64,979,523 (GRCm39) probably benign Het
Tmem209 G T 6: 30,502,112 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,589,176 (GRCm39) E58G probably damaging Het
Trp53bp2 T A 1: 182,272,283 (GRCm39) M464K probably damaging Het
Ttc32 A G 12: 9,085,897 (GRCm39) Y148C possibly damaging Het
Unc80 T C 1: 66,546,550 (GRCm39) S541P probably damaging Het
Ushbp1 T C 8: 71,847,684 (GRCm39) probably benign Het
Vmn2r100 A G 17: 19,725,136 (GRCm39) M22V probably benign Het
Vmn2r100 A T 17: 19,746,296 (GRCm39) E485V probably damaging Het
Wdr24 G A 17: 26,046,087 (GRCm39) V471I probably benign Het
Zfp35 T A 18: 24,136,001 (GRCm39) M115K probably benign Het
Zfp429 G A 13: 67,538,796 (GRCm39) S216L probably benign Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A probably benign Het
Other mutations in Mgam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Mgam APN 6 40,619,944 (GRCm39) missense probably benign
IGL01065:Mgam APN 6 40,639,644 (GRCm39) critical splice donor site probably null
IGL01402:Mgam APN 6 40,621,879 (GRCm39) missense probably benign 0.01
IGL01404:Mgam APN 6 40,621,879 (GRCm39) missense probably benign 0.01
IGL01413:Mgam APN 6 40,638,211 (GRCm39) missense probably damaging 1.00
IGL01546:Mgam APN 6 40,631,627 (GRCm39) missense probably damaging 0.98
IGL01596:Mgam APN 6 40,635,204 (GRCm39) missense probably damaging 1.00
IGL02133:Mgam APN 6 40,620,010 (GRCm39) missense probably damaging 0.98
IGL02734:Mgam APN 6 40,639,628 (GRCm39) missense probably damaging 1.00
BB002:Mgam UTSW 6 40,735,985 (GRCm39) missense probably damaging 0.99
BB012:Mgam UTSW 6 40,735,985 (GRCm39) missense probably damaging 0.99
R0116:Mgam UTSW 6 40,635,921 (GRCm39) missense probably damaging 1.00
R0310:Mgam UTSW 6 40,737,969 (GRCm39) splice site probably benign
R0452:Mgam UTSW 6 40,736,024 (GRCm39) missense probably damaging 1.00
R0497:Mgam UTSW 6 40,641,826 (GRCm39) missense probably damaging 1.00
R0699:Mgam UTSW 6 40,619,953 (GRCm39) missense possibly damaging 0.84
R0738:Mgam UTSW 6 40,731,869 (GRCm39) missense probably benign 0.01
R1033:Mgam UTSW 6 40,657,558 (GRCm39) missense probably benign 0.07
R1403:Mgam UTSW 6 40,643,815 (GRCm39) missense possibly damaging 0.93
R1403:Mgam UTSW 6 40,643,815 (GRCm39) missense possibly damaging 0.93
R1430:Mgam UTSW 6 40,733,305 (GRCm39) missense probably benign 0.08
R1432:Mgam UTSW 6 40,733,301 (GRCm39) missense probably damaging 1.00
R1443:Mgam UTSW 6 40,736,714 (GRCm39) nonsense probably null
R1470:Mgam UTSW 6 40,736,062 (GRCm39) missense probably damaging 1.00
R1470:Mgam UTSW 6 40,736,062 (GRCm39) missense probably damaging 1.00
R1519:Mgam UTSW 6 40,638,617 (GRCm39) missense probably benign 0.45
R1654:Mgam UTSW 6 40,734,421 (GRCm39) missense probably damaging 1.00
R1667:Mgam UTSW 6 40,653,978 (GRCm39) missense possibly damaging 0.62
R1730:Mgam UTSW 6 40,641,794 (GRCm39) missense possibly damaging 0.92
R1781:Mgam UTSW 6 40,646,797 (GRCm39) missense probably damaging 1.00
R1783:Mgam UTSW 6 40,641,794 (GRCm39) missense possibly damaging 0.92
R1829:Mgam UTSW 6 40,643,826 (GRCm39) missense probably damaging 1.00
R1833:Mgam UTSW 6 40,631,652 (GRCm39) critical splice donor site probably null
R1872:Mgam UTSW 6 40,638,234 (GRCm39) nonsense probably null
R1912:Mgam UTSW 6 40,741,119 (GRCm39) nonsense probably null
R1977:Mgam UTSW 6 40,641,814 (GRCm39) missense probably benign 0.01
R2048:Mgam UTSW 6 40,633,363 (GRCm39) missense possibly damaging 0.80
R2086:Mgam UTSW 6 40,737,962 (GRCm39) splice site probably null
R2138:Mgam UTSW 6 40,733,384 (GRCm39) missense probably damaging 1.00
R2224:Mgam UTSW 6 40,741,208 (GRCm39) splice site probably null
R2408:Mgam UTSW 6 40,663,456 (GRCm39) missense probably damaging 1.00
R2508:Mgam UTSW 6 40,736,717 (GRCm39) missense probably damaging 1.00
R2842:Mgam UTSW 6 40,638,279 (GRCm39) missense probably benign 0.01
R2847:Mgam UTSW 6 40,629,649 (GRCm39) missense possibly damaging 0.67
R2848:Mgam UTSW 6 40,629,649 (GRCm39) missense possibly damaging 0.67
R2965:Mgam UTSW 6 40,745,154 (GRCm39) missense possibly damaging 0.46
R2966:Mgam UTSW 6 40,745,154 (GRCm39) missense possibly damaging 0.46
R3035:Mgam UTSW 6 40,640,464 (GRCm39) missense probably benign
R3895:Mgam UTSW 6 40,736,054 (GRCm39) missense probably damaging 1.00
R4027:Mgam UTSW 6 40,731,836 (GRCm39) missense probably damaging 1.00
R4030:Mgam UTSW 6 40,731,836 (GRCm39) missense probably damaging 1.00
R4302:Mgam UTSW 6 40,740,019 (GRCm39) missense probably benign 0.02
R4707:Mgam UTSW 6 40,691,566 (GRCm39) splice site probably null
R4826:Mgam UTSW 6 40,657,582 (GRCm39) missense possibly damaging 0.52
R4898:Mgam UTSW 6 40,619,988 (GRCm39) missense probably benign
R5438:Mgam UTSW 6 40,661,455 (GRCm39) missense probably damaging 1.00
R5492:Mgam UTSW 6 40,733,297 (GRCm39) missense probably damaging 1.00
R5770:Mgam UTSW 6 40,646,738 (GRCm39) missense probably benign 0.01
R5839:Mgam UTSW 6 40,716,998 (GRCm39) missense possibly damaging 0.90
R5845:Mgam UTSW 6 40,652,257 (GRCm39) missense possibly damaging 0.78
R5847:Mgam UTSW 6 40,660,989 (GRCm39) missense probably benign 0.42
R5891:Mgam UTSW 6 40,721,282 (GRCm39) missense probably benign
R6158:Mgam UTSW 6 40,734,648 (GRCm39) missense probably damaging 1.00
R6193:Mgam UTSW 6 40,724,854 (GRCm39) nonsense probably null
R6423:Mgam UTSW 6 40,653,979 (GRCm39) missense possibly damaging 0.84
R6706:Mgam UTSW 6 40,721,720 (GRCm39) missense probably benign 0.00
R6813:Mgam UTSW 6 40,727,099 (GRCm39) missense probably damaging 0.99
R6863:Mgam UTSW 6 40,705,943 (GRCm39) missense probably benign 0.00
R6906:Mgam UTSW 6 40,724,853 (GRCm39) missense probably damaging 1.00
R7091:Mgam UTSW 6 40,745,210 (GRCm39) missense possibly damaging 0.95
R7099:Mgam UTSW 6 40,638,650 (GRCm39) missense probably benign 0.09
R7282:Mgam UTSW 6 40,740,045 (GRCm39) missense probably benign
R7282:Mgam UTSW 6 40,633,446 (GRCm39) missense possibly damaging 0.71
R7354:Mgam UTSW 6 40,721,732 (GRCm39) missense probably damaging 1.00
R7374:Mgam UTSW 6 40,734,373 (GRCm39) missense possibly damaging 0.89
R7399:Mgam UTSW 6 40,643,788 (GRCm39) missense probably damaging 0.99
R7406:Mgam UTSW 6 40,640,459 (GRCm39) missense probably benign 0.13
R7446:Mgam UTSW 6 40,723,266 (GRCm39) missense probably damaging 1.00
R7466:Mgam UTSW 6 40,721,723 (GRCm39) missense probably benign 0.00
R7525:Mgam UTSW 6 40,742,954 (GRCm39) missense probably benign 0.01
R7530:Mgam UTSW 6 40,686,152 (GRCm39) splice site probably null
R7570:Mgam UTSW 6 40,723,367 (GRCm39) missense probably benign 0.16
R7669:Mgam UTSW 6 40,635,944 (GRCm39) missense probably benign 0.00
R7679:Mgam UTSW 6 40,619,980 (GRCm39) missense probably damaging 0.98
R7746:Mgam UTSW 6 40,645,127 (GRCm39) missense probably damaging 0.99
R7859:Mgam UTSW 6 40,717,113 (GRCm39) missense possibly damaging 0.75
R7925:Mgam UTSW 6 40,735,985 (GRCm39) missense probably damaging 0.99
R8206:Mgam UTSW 6 40,657,169 (GRCm39) missense probably benign 0.00
R8244:Mgam UTSW 6 40,727,520 (GRCm39) missense probably damaging 1.00
R8309:Mgam UTSW 6 40,722,111 (GRCm39) missense possibly damaging 0.88
R8472:Mgam UTSW 6 40,671,460 (GRCm39) splice site probably null
R8758:Mgam UTSW 6 40,705,977 (GRCm39) missense probably benign 0.41
R8777:Mgam UTSW 6 40,632,185 (GRCm39) missense probably damaging 0.97
R8777-TAIL:Mgam UTSW 6 40,632,185 (GRCm39) missense probably damaging 0.97
R8783:Mgam UTSW 6 40,633,423 (GRCm39) missense probably damaging 0.99
R8939:Mgam UTSW 6 40,740,137 (GRCm39) critical splice donor site probably null
R8968:Mgam UTSW 6 40,734,745 (GRCm39) critical splice acceptor site probably null
R8987:Mgam UTSW 6 40,706,570 (GRCm39) missense probably damaging 1.00
R9055:Mgam UTSW 6 40,691,663 (GRCm39) intron probably benign
R9171:Mgam UTSW 6 40,745,146 (GRCm39) missense possibly damaging 0.76
R9252:Mgam UTSW 6 40,706,577 (GRCm39) missense probably damaging 0.99
R9258:Mgam UTSW 6 40,657,121 (GRCm39) missense probably benign
R9262:Mgam UTSW 6 40,723,422 (GRCm39) critical splice donor site probably null
R9287:Mgam UTSW 6 40,705,905 (GRCm39) intron probably benign
R9521:Mgam UTSW 6 40,722,118 (GRCm39) missense probably damaging 1.00
R9589:Mgam UTSW 6 40,727,519 (GRCm39) missense probably damaging 1.00
R9658:Mgam UTSW 6 40,721,311 (GRCm39) missense possibly damaging 0.93
R9784:Mgam UTSW 6 40,736,024 (GRCm39) missense probably damaging 1.00
RF011:Mgam UTSW 6 40,734,370 (GRCm39) missense probably damaging 1.00
RF020:Mgam UTSW 6 40,662,243 (GRCm39) missense probably damaging 1.00
RF023:Mgam UTSW 6 40,657,642 (GRCm39) missense probably benign
X0021:Mgam UTSW 6 40,635,981 (GRCm39) missense probably damaging 1.00
Z1088:Mgam UTSW 6 40,619,994 (GRCm39) missense probably benign 0.01
Z1176:Mgam UTSW 6 40,706,000 (GRCm39) missense probably damaging 1.00
Z1176:Mgam UTSW 6 40,654,578 (GRCm39) critical splice donor site probably null
Z1177:Mgam UTSW 6 40,717,005 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGGACTGGGTGTAGAACCTGAC -3'
(R):5'- CCACTTTGCATAGCAAGCATCAGC -3'

Sequencing Primer
(F):5'- GGTGTAGAACCTGACTAGCTTCC -3'
(R):5'- GGATAGCCTTGAACTCTGTAAGTC -3'
Posted On 2013-05-09