Incidental Mutation 'R5891:Mgam'
ID 457172
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 044092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R5891 (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 40721282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 183 (D183E)
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 benign
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 benign
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 benign
Transcript: ENSMUST00000202779
AA Change: D302E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587
AA Change: D302E

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
AA Change: D183E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: D183E

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 96% (85/89)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A T 16: 56,426,496 (GRCm39) T504S probably damaging Het
Adamtsl4 C A 3: 95,589,623 (GRCm39) R387L possibly damaging Het
Adgb G A 10: 10,253,591 (GRCm39) Q1224* probably null Het
Ankrd40 T A 11: 94,225,689 (GRCm39) F240Y probably damaging Het
Asnsd1 A T 1: 53,387,136 (GRCm39) Y164N probably benign Het
Atf7ip A T 6: 136,536,975 (GRCm39) E69D possibly damaging Het
Atm T C 9: 53,408,459 (GRCm39) T1129A probably benign Het
Atosa C G 9: 74,911,668 (GRCm39) C46W probably damaging Het
AU021092 T C 16: 5,029,995 (GRCm39) D340G probably benign Het
Baz2a T A 10: 127,957,191 (GRCm39) I978N probably damaging Het
BC034090 T C 1: 155,108,793 (GRCm39) probably benign Het
Bcl9 A G 3: 97,116,204 (GRCm39) L830P probably damaging Het
Bicral T C 17: 47,112,155 (GRCm39) N1015S probably benign Het
Ccdc9b T A 2: 118,591,864 (GRCm39) D92V probably damaging Het
Ceacam3 C A 7: 16,885,718 (GRCm39) T107N probably damaging Het
Cep83 T C 10: 94,561,537 (GRCm39) V109A probably benign Het
Ces1e A G 8: 93,929,894 (GRCm39) V463A possibly damaging Het
Ciao1 A G 2: 127,089,054 (GRCm39) V55A probably benign Het
Col19a1 T C 1: 24,328,806 (GRCm39) E900G probably damaging Het
Commd3 A G 2: 18,678,626 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,872 (GRCm39) I157T probably damaging Het
Cplane1 A G 15: 8,218,073 (GRCm39) I828V probably benign Het
Ctso T A 3: 81,861,561 (GRCm39) F311L probably benign Het
Cxcl10 A G 5: 92,496,083 (GRCm39) probably benign Het
Daam1 C A 12: 71,990,923 (GRCm39) T179N unknown Het
Ddx24 T C 12: 103,390,317 (GRCm39) K225E probably damaging Het
Dnajc16 T C 4: 141,502,703 (GRCm39) T278A probably benign Het
Dnajc2 A T 5: 21,966,709 (GRCm39) N345K possibly damaging Het
Dnpep G T 1: 75,288,456 (GRCm39) Q395K probably benign Het
Dync1h1 T C 12: 110,580,654 (GRCm39) probably null Het
Exoc1 A G 5: 76,689,991 (GRCm39) D177G probably damaging Het
Fam135b C T 15: 71,397,652 (GRCm39) R136H probably damaging Het
Filip1 T G 9: 79,727,142 (GRCm39) L492F possibly damaging Het
Flvcr2 A T 12: 85,843,002 (GRCm39) I359F possibly damaging Het
Gmcl1 A G 6: 86,684,425 (GRCm39) W366R probably damaging Het
Htt A G 5: 35,028,167 (GRCm39) T1808A possibly damaging Het
Ighv5-4 C A 12: 113,561,249 (GRCm39) R57L probably damaging Het
Il12rb2 A T 6: 67,337,674 (GRCm39) I69N probably damaging Het
Irf5 A T 6: 29,529,424 (GRCm39) probably benign Het
Kif13b T G 14: 65,025,854 (GRCm39) probably null Het
Klkb1 T A 8: 45,723,703 (GRCm39) T571S probably benign Het
Mapkbp1 G T 2: 119,854,413 (GRCm39) E1337* probably null Het
Met A G 6: 17,491,538 (GRCm39) D100G probably benign Het
Mrgprb13 T C 7: 47,962,007 (GRCm39) noncoding transcript Het
Mrgprx2 T C 7: 48,131,994 (GRCm39) T275A probably benign Het
Mroh2a C A 1: 88,169,337 (GRCm39) Q671K possibly damaging Het
Nckipsd T A 9: 108,685,808 (GRCm39) S42R probably damaging Het
Nlrp12 T A 7: 3,267,933 (GRCm39) probably benign Het
Or12j2 C T 7: 139,916,513 (GRCm39) T246I probably benign Het
Or12k8 T A 2: 36,974,990 (GRCm39) M257L probably benign Het
Or4k47 A T 2: 111,451,778 (GRCm39) L214M probably damaging Het
Or5p5 C T 7: 107,414,387 (GRCm39) P199S probably damaging Het
Otoa T A 7: 120,731,583 (GRCm39) probably null Het
Pfkm T A 15: 98,020,571 (GRCm39) C233* probably null Het
Pikfyve A G 1: 65,241,896 (GRCm39) Y212C probably damaging Het
Ptprq T A 10: 107,412,756 (GRCm39) D1781V possibly damaging Het
Pttg1ip A G 10: 77,418,274 (GRCm39) probably benign Het
Rab6a T A 7: 100,288,454 (GRCm39) probably null Het
Rbm11 C T 16: 75,395,725 (GRCm39) A132V possibly damaging Het
Septin4 G T 11: 87,479,750 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,575 (GRCm39) E210G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Slco5a1 A G 1: 13,060,626 (GRCm39) F32L probably benign Het
Smad2 A G 18: 76,433,046 (GRCm39) E326G probably damaging Het
Sp9 T A 2: 73,104,595 (GRCm39) L383Q probably damaging Het
Stx11 T C 10: 12,817,559 (GRCm39) N55S probably damaging Het
Tbc1d15 T A 10: 115,056,213 (GRCm39) Q253L probably benign Het
Tcf7l1 T A 6: 72,614,034 (GRCm39) probably benign Het
Tdrd9 T A 12: 112,009,153 (GRCm39) S1020T probably damaging Het
Tead3 A T 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tnrc18 A G 5: 142,800,926 (GRCm39) S11P probably damaging Homo
Trpc3 G T 3: 36,725,171 (GRCm39) D268E probably damaging Het
Ttn A G 2: 76,576,085 (GRCm39) V23190A possibly damaging Het
Ubr4 T A 4: 139,135,937 (GRCm39) Y908* probably null Het
Urb2 G T 8: 124,757,595 (GRCm39) V1101L possibly damaging Het
Usp9y A T Y: 1,341,535 (GRCm39) D1375E probably benign Het
Zcchc7 T C 4: 44,895,838 (GRCm39) L262P probably damaging Het
Zdhhc7 T A 8: 120,811,639 (GRCm39) H188L probably benign Het
Zfp518a T A 19: 40,900,877 (GRCm39) C269S probably damaging Het
Zfp933 T C 4: 147,911,231 (GRCm39) K90E 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
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
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'- AGCTCTCCTCCTTTAAGACAGC -3'
(R):5'- TCCTGAAGCAACCCTTTCTATG -3'

Sequencing Primer
(F):5'- CAATGTATCTTGATGGTTGAGACTCC -3'
(R):5'- GCAACCCTTTCTATGAATTTGAGGC -3'
Posted On 2017-02-15