Incidental Mutation 'R1432:Mgam'
ID 162294
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 039487-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R1432 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40605765-40746057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40733301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 692 (M692K)
Ref Sequence ENSEMBL: ENSMUSP00000144680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148] [ENSMUST00000202779] [ENSMUST00000202966]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071535
AA Change: M1438K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: M1438K

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 damaging
Transcript: ENSMUST00000201148
AA Change: M1438K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: M1438K

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 damaging
Transcript: ENSMUST00000202779
AA Change: M811K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587
AA Change: M811K

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 damaging
Transcript: ENSMUST00000202966
AA Change: M692K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: M692K

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 0.3989 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (90/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,217,361 (GRCm39) probably null Het
9130401M01Rik A T 15: 57,892,256 (GRCm39) L117Q probably damaging Het
Abcb1b A G 5: 8,887,771 (GRCm39) K886E possibly damaging Het
Acaa2 A T 18: 74,920,198 (GRCm39) I9F probably damaging Het
Acap2 A T 16: 30,929,901 (GRCm39) S386T probably damaging Het
Acsm2 A T 7: 119,172,798 (GRCm39) I138F possibly damaging Het
Agl T C 3: 116,540,342 (GRCm39) Y1424C probably damaging Het
Aoc1l1 T A 6: 48,952,588 (GRCm39) F171Y probably damaging Het
Apc2 T C 10: 80,148,183 (GRCm39) V1079A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Armc8 C T 9: 99,405,185 (GRCm39) probably benign Het
Catsperb A G 12: 101,588,476 (GRCm39) Y953C probably damaging Het
Cdk13 G A 13: 17,893,001 (GRCm39) A720V probably damaging Het
Chka T C 19: 3,924,809 (GRCm39) probably benign Het
Clcc1 T C 3: 108,575,418 (GRCm39) I165T probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Dip2c C A 13: 9,603,340 (GRCm39) P297Q probably damaging Het
Dnah17 A T 11: 117,914,153 (GRCm39) W4429R probably damaging Het
Dram2 T C 3: 106,478,082 (GRCm39) V138A possibly damaging Het
Dus4l T C 12: 31,698,770 (GRCm39) N78S probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ebf1 T C 11: 44,895,533 (GRCm39) probably benign Het
Epm2a T A 10: 11,266,587 (GRCm39) Y111N probably damaging Het
Gm773 T C X: 55,247,377 (GRCm39) T52A probably benign Het
Gpam C A 19: 55,067,693 (GRCm39) M483I probably damaging Het
Gpr12 T C 5: 146,520,235 (GRCm39) H229R probably damaging Het
Gpr149 T C 3: 62,438,439 (GRCm39) T573A probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hells T A 19: 38,945,628 (GRCm39) probably null Het
Herc1 T A 9: 66,372,751 (GRCm39) N3102K probably benign Het
Herc3 A T 6: 58,893,827 (GRCm39) T968S possibly damaging Het
Ift88 A G 14: 57,674,736 (GRCm39) Y69C probably benign Het
Incenp G A 19: 9,862,890 (GRCm39) T388M unknown Het
Jrkl A G 9: 13,245,337 (GRCm39) F108S probably benign Het
Khdc1a A G 1: 21,420,542 (GRCm39) E54G possibly damaging Het
Kif6 T A 17: 49,927,728 (GRCm39) F58L probably damaging Het
Klk14 T C 7: 43,344,342 (GRCm39) S218P probably damaging Het
Kmt2e T C 5: 23,655,319 (GRCm39) M19T probably benign Het
Llgl1 G T 11: 60,599,380 (GRCm39) G454C probably damaging Het
Lyrm4 A G 13: 36,276,898 (GRCm39) V33A probably benign Het
Mcam C T 9: 44,052,588 (GRCm39) R606C probably damaging Het
Mmp28 C T 11: 83,333,765 (GRCm39) R392H probably damaging Het
Mpdz G A 4: 81,210,788 (GRCm39) T1699M probably damaging Het
Mrps11 T C 7: 78,433,310 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,866 (GRCm39) N504S probably benign Het
Msmo1 A G 8: 65,180,650 (GRCm39) probably benign Het
Mst1 A G 9: 107,961,403 (GRCm39) E571G probably benign Het
Myh14 T C 7: 44,265,723 (GRCm39) E1585G probably damaging Het
Myrfl A G 10: 116,613,332 (GRCm39) C824R probably damaging Het
Ncapd3 C T 9: 26,981,168 (GRCm39) probably benign Het
Nlrp4a G GGTTCTTC 7: 26,163,622 (GRCm39) probably null Het
Nos1 C T 5: 118,087,684 (GRCm39) probably benign Het
Notch3 T C 17: 32,383,198 (GRCm39) S47G probably benign Het
Npsr1 A G 9: 24,221,371 (GRCm39) Y122C probably damaging Het
Or10ak12 T C 4: 118,666,435 (GRCm39) M209V probably benign Het
Or1j11 C T 2: 36,311,655 (GRCm39) L82F probably damaging Het
Or5a1 G T 19: 12,097,603 (GRCm39) R158S possibly damaging Het
Or6c1b C T 10: 129,272,807 (GRCm39) T42I probably damaging Het
Or6k2 T A 1: 173,986,483 (GRCm39) V48E possibly damaging Het
Or8b9 T A 9: 37,766,548 (GRCm39) L145M possibly damaging Het
Otog G T 7: 45,950,007 (GRCm39) V2490F probably damaging Het
Pibf1 T C 14: 99,350,425 (GRCm39) V191A probably benign Het
Pip A G 6: 41,826,852 (GRCm39) M66V probably benign Het
Plxna2 C T 1: 194,449,771 (GRCm39) R830C probably benign Het
Prkca A T 11: 107,830,346 (GRCm39) V248E probably benign Het
Prmt7 T A 8: 106,963,916 (GRCm39) L253* probably null Het
Prrc2a G T 17: 35,372,888 (GRCm39) probably benign Het
Rasgrf1 A G 9: 89,894,853 (GRCm39) D1091G probably benign Het
Rbm7 C A 9: 48,401,245 (GRCm39) G161V probably benign Het
Scn1a A T 2: 66,152,773 (GRCm39) I736N probably damaging Het
Skint6 A G 4: 112,726,721 (GRCm39) probably benign Het
Slc22a2 C T 17: 12,803,195 (GRCm39) H10Y possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stam2 A G 2: 52,604,821 (GRCm39) probably benign Het
Stk40 T C 4: 126,030,626 (GRCm39) L282P probably damaging Het
Tas2r110 A G 6: 132,845,331 (GRCm39) N121D probably damaging Het
Tbc1d32 A G 10: 55,893,758 (GRCm39) Y1272H probably damaging Het
Thoc2l T C 5: 104,665,970 (GRCm39) F164S probably damaging Het
Tmem131l T C 3: 83,836,021 (GRCm39) D696G probably damaging Het
Trdmt1 T C 2: 13,524,657 (GRCm39) Y266C probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Twf2 T A 9: 106,092,012 (GRCm39) probably benign Het
Ubap2l T C 3: 89,926,635 (GRCm39) T580A probably benign Het
Ugt1a10 C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Unc5a A G 13: 55,152,285 (GRCm39) probably benign Het
Vmn2r85 T C 10: 130,261,155 (GRCm39) N394S possibly damaging Het
Wrn A T 8: 33,809,169 (GRCm39) 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
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
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
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'- TGTTCCAGAGCATGTGGTAACTTGC -3'
(R):5'- TTACACCAGTGACTGGACATCCCC -3'

Sequencing Primer
(F):5'- CCACAGGAATGTTGCAGTTC -3'
(R):5'- CCCACTAATAATGCCAAGTGTTGTG -3'
Posted On 2014-03-14