Incidental Mutation 'R0699:Mgam'
ID 62949
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 038883-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R0699 (G1)
Quality Score 152
Status Validated
Chromosome 6
Chromosomal Location 40605765-40746057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40619953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 14 (L14P)
Ref Sequence ENSEMBL: ENSMUSP00000143946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148] [ENSMUST00000202636]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000071535
AA Change: L14P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: L14P

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 possibly damaging
Transcript: ENSMUST00000201148
AA Change: L14P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: L14P

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 benign
Transcript: ENSMUST00000202636
SMART Domains Protein: ENSMUSP00000144652
Gene: ENSMUSG00000068587

DomainStartEndE-ValueType
low complexity region 10 22 N/A INTRINSIC
Pfam:Trefoil 28 70 3.6e-12 PFAM
Pfam:NtCtMGAM_N 87 196 1.4e-36 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (120/123)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,538,508 (GRCm39) probably benign Het
Abcb6 C T 1: 75,148,553 (GRCm39) E89K probably damaging Het
Adam25 C A 8: 41,209,011 (GRCm39) T759K probably benign Het
Adgrf5 G A 17: 43,733,552 (GRCm39) probably null Het
Aimp1 A T 3: 132,380,626 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,153,148 (GRCm39) V193I probably benign Het
Ank2 C T 3: 126,723,478 (GRCm39) V950I probably benign Het
Aspn A G 13: 49,705,258 (GRCm39) D40G possibly damaging Het
C1rl A G 6: 124,485,595 (GRCm39) D322G probably benign Het
Car5a T C 8: 122,671,555 (GRCm39) probably benign Het
Cfap107 G T 4: 144,146,322 (GRCm39) N110K probably damaging Het
Cfap157 T A 2: 32,669,022 (GRCm39) K360N probably damaging Het
Cilp T A 9: 65,177,608 (GRCm39) F117Y probably damaging Het
Cntnap5c T G 17: 58,349,493 (GRCm39) W269G probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Commd3 A G 2: 18,679,786 (GRCm39) E165G possibly damaging Het
Cops3 A C 11: 59,717,148 (GRCm39) Y244D probably damaging Het
Cpne5 T A 17: 29,428,667 (GRCm39) K108N probably damaging Het
Cracdl T C 1: 37,651,411 (GRCm39) D1152G possibly damaging Het
Ddx41 A G 13: 55,679,112 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,301,113 (GRCm39) Y157H probably damaging Het
Dpp8 A T 9: 64,962,176 (GRCm39) L405F probably benign Het
Dync2h1 G T 9: 7,103,680 (GRCm39) A365E probably benign Het
Dysf C T 6: 84,167,828 (GRCm39) R1757W probably benign Het
Eif1ad T A 19: 5,418,726 (GRCm39) V93D possibly damaging Het
Eif2ak3 T C 6: 70,869,514 (GRCm39) F734L probably benign Het
F8 T C X: 74,423,230 (GRCm39) probably benign Het
Fbxl14 T C 6: 119,457,715 (GRCm39) Y299H probably benign Het
Fmo1 T C 1: 162,661,341 (GRCm39) N314S probably benign Het
Fnip2 T C 3: 79,388,446 (GRCm39) T762A probably benign Het
Gfra1 A C 19: 58,258,555 (GRCm39) S271A probably benign Het
Gm9932 T C 5: 100,346,931 (GRCm39) V43A probably damaging Het
Herc6 T C 6: 57,558,092 (GRCm39) L24P probably damaging Het
Hmcn1 T C 1: 150,695,161 (GRCm39) T248A probably damaging Het
Hook1 T A 4: 95,884,077 (GRCm39) probably benign Het
Ifne T C 4: 88,798,014 (GRCm39) S135G probably benign Het
Igkv13-84 G A 6: 68,916,635 (GRCm39) probably benign Het
Itm2b T A 14: 73,602,065 (GRCm39) N211I probably damaging Het
Kcnh5 A T 12: 75,023,305 (GRCm39) C588S possibly damaging Het
Kif13a A T 13: 46,952,689 (GRCm39) W699R possibly damaging Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Macrod2 T C 2: 140,260,836 (GRCm39) probably null Het
Map3k6 A G 4: 132,975,437 (GRCm39) E724G probably damaging Het
Morc1 T A 16: 48,412,977 (GRCm39) M706K probably benign Het
Muc2 T C 7: 141,306,037 (GRCm39) V242A probably damaging Het
Mx2 T A 16: 97,345,753 (GRCm39) V57E probably damaging Het
Myh14 C A 7: 44,274,395 (GRCm39) A1339S possibly damaging Het
Myom1 G T 17: 71,374,308 (GRCm39) S595I probably damaging Het
Nav1 T A 1: 135,380,687 (GRCm39) M1471L probably benign Het
Ncapd2 A C 6: 125,146,843 (GRCm39) S1248A probably benign Het
Ncbp1 T C 4: 46,147,528 (GRCm39) V125A probably benign Het
Ncor2 A T 5: 125,106,176 (GRCm39) probably benign Het
Nobox T A 6: 43,284,144 (GRCm39) Q134L probably benign Het
Npc1 T C 18: 12,343,632 (GRCm39) T454A probably benign Het
Ntng1 G T 3: 109,779,611 (GRCm39) T322K probably damaging Het
Olfm5 T C 7: 103,803,326 (GRCm39) E379G probably damaging Het
Oma1 T C 4: 103,210,792 (GRCm39) S433P probably damaging Het
Or1ad6 T C 11: 50,860,645 (GRCm39) S267P probably damaging Het
Or1b1 T C 2: 36,995,074 (GRCm39) D196G possibly damaging Het
Or4c105 A T 2: 88,647,568 (GRCm39) N18Y probably damaging Het
Or4c107 C T 2: 88,788,960 (GRCm39) T50I probably benign Het
Or4c113 C T 2: 88,885,636 (GRCm39) V45M possibly damaging Het
Parp14 G A 16: 35,680,955 (GRCm39) T226M probably damaging Het
Parp8 A T 13: 117,059,120 (GRCm39) H168Q probably benign Het
Pik3cg G A 12: 32,247,341 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,442,000 (GRCm39) F388S probably damaging Het
Plaat3 T A 19: 7,535,366 (GRCm39) probably null Het
Pllp T C 8: 95,422,660 (GRCm39) probably null Het
Ppfibp1 T A 6: 146,927,720 (GRCm39) V778E probably damaging Het
Prkci T C 3: 31,104,422 (GRCm39) V595A possibly damaging Het
Prune2 T A 19: 17,101,319 (GRCm39) D2274E probably damaging Het
Rad51ap2 A T 12: 11,507,601 (GRCm39) T508S probably benign Het
Ranbp3l T C 15: 9,058,850 (GRCm39) probably null Het
Rfc1 A C 5: 65,476,742 (GRCm39) probably null Het
Rin3 G A 12: 102,335,834 (GRCm39) V502I probably damaging Het
Rtn4rl1 A T 11: 75,156,048 (GRCm39) H160L possibly damaging Het
Rtn4rl1 A T 11: 75,156,050 (GRCm39) I161F probably benign Het
Serpinb9b A T 13: 33,217,549 (GRCm39) M116L probably benign Het
Sgo2a C T 1: 58,037,308 (GRCm39) R18* probably null Het
Sh3gl2 T A 4: 85,265,408 (GRCm39) D31E probably benign Het
Slc38a9 T C 13: 112,859,823 (GRCm39) L419S probably damaging Het
Sp8 AGCGGCGGCGGCGGCGG AGCGGCGGCGGCGG 12: 118,812,555 (GRCm39) probably benign Het
Spen G T 4: 141,201,702 (GRCm39) N2308K possibly damaging Het
Stac2 A G 11: 97,933,611 (GRCm39) I156T possibly damaging Het
Stambp A G 6: 83,533,303 (GRCm39) F320S probably damaging Het
Tas2r117 A T 6: 132,780,161 (GRCm39) N100Y probably damaging Het
Tigd3 A T 19: 5,941,974 (GRCm39) S385R probably benign Het
Tmem30c T C 16: 57,097,152 (GRCm39) D136G possibly damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnrc6c A G 11: 117,613,447 (GRCm39) Q535R probably benign Het
Trmt2a T C 16: 18,067,393 (GRCm39) V22A probably benign Het
Tut7 G A 13: 59,929,828 (GRCm39) probably benign Het
Wipf3 A C 6: 54,460,817 (GRCm39) K88N probably damaging Het
Zfp974 T C 7: 27,611,416 (GRCm39) E103G possibly damaging Het
Zscan10 C T 17: 23,827,092 (GRCm39) T135I probably damaging 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
R0012:Mgam UTSW 6 40,742,190 (GRCm39) splice site probably null
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
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'- ATGACATCTGGGCTATGTGCAGTG -3'
(R):5'- GCAATATAAAAGCGTGCCGTCTCTACC -3'

Sequencing Primer
(F):5'- GAGGTTTGTCTCCTAACAATGCAG -3'
(R):5'- CGAGTTGGCTAAGAGCACAA -3'
Posted On 2013-07-30