Incidental Mutation 'R1654:Mgam'
ID 188921
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 039690-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R1654 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 40605765-40746057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40734421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 743 (S743P)
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: S1489P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: S1489P

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: S1489P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: S1489P

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: S862P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587
AA Change: S862P

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: S743P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: S743P

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik C T 11: 109,688,225 (GRCm39) S90N probably benign Het
Apc2 C T 10: 80,137,676 (GRCm39) T39I possibly damaging Het
Arfgef3 C T 10: 18,500,896 (GRCm39) R1118K probably null Het
Arhgef12 T C 9: 42,908,956 (GRCm39) D658G possibly damaging Het
Asph G T 4: 9,453,315 (GRCm39) R736S probably benign Het
Bcas1 C T 2: 170,191,166 (GRCm39) G542E probably damaging Het
Brd8 A T 18: 34,744,279 (GRCm39) V183E probably damaging Het
C1rl G A 6: 124,470,869 (GRCm39) G59E probably damaging Het
Cacna1i C A 15: 80,273,411 (GRCm39) A1699D probably damaging Het
Card6 G T 15: 5,128,214 (GRCm39) Q1061K probably benign Het
Cd163 G T 6: 124,294,540 (GRCm39) C566F probably damaging Het
Cd84 C T 1: 171,712,173 (GRCm39) T263I possibly damaging Het
Cep63 T C 9: 102,464,112 (GRCm39) I740V possibly damaging Het
Chaf1b C A 16: 93,691,791 (GRCm39) A279D probably damaging Het
Chsy3 A T 18: 59,309,488 (GRCm39) Y247F probably damaging Het
Cpxm1 G A 2: 130,235,466 (GRCm39) L509F possibly damaging Het
Disc1 A T 8: 125,875,204 (GRCm39) Q558L possibly damaging Het
Dnah3 A T 7: 119,525,672 (GRCm39) L3894Q probably damaging Het
Dnmt1 G T 9: 20,847,870 (GRCm39) T105N possibly damaging Het
Dock6 A T 9: 21,716,139 (GRCm39) L1732Q probably damaging Het
Dsc2 T C 18: 20,179,303 (GRCm39) N255S probably benign Het
Dsel A T 1: 111,790,242 (GRCm39) Y98N probably damaging Het
Enox1 T A 14: 77,848,814 (GRCm39) I375N possibly damaging Het
Epha4 T A 1: 77,351,405 (GRCm39) probably null Het
Fktn A G 4: 53,761,220 (GRCm39) I446V probably benign Het
Garin4 T C 1: 190,895,678 (GRCm39) R322G probably benign Het
Gm7361 G T 5: 26,466,097 (GRCm39) R153L probably damaging Het
Grin2c C T 11: 115,151,679 (GRCm39) V94I probably benign Het
Kalrn T G 16: 33,796,108 (GRCm39) L1222F probably damaging Het
Krt80 T C 15: 101,249,590 (GRCm39) K255E probably damaging Het
Lcn6 T A 2: 25,570,787 (GRCm39) probably null Het
Lonp2 T G 8: 87,358,078 (GRCm39) L100V probably damaging Het
Lyn G A 4: 3,789,912 (GRCm39) A482T probably damaging Het
Mapk4 A G 18: 74,064,010 (GRCm39) F404S probably damaging Het
Mast2 T C 4: 116,173,747 (GRCm39) probably null Het
Medag T C 5: 149,345,600 (GRCm39) Y94H probably damaging Het
Megf8 T C 7: 25,037,911 (GRCm39) L809P possibly damaging Het
Mia2 C A 12: 59,155,619 (GRCm39) T445K possibly damaging Het
Mtcl3 A T 10: 29,022,931 (GRCm39) probably null Het
Nars1 C G 18: 64,645,120 (GRCm39) A43P probably damaging Het
Nav3 T C 10: 109,688,984 (GRCm39) N431S possibly damaging Het
Ndufaf5 A G 2: 140,019,220 (GRCm39) probably null Het
Nlrp1b T G 11: 71,072,124 (GRCm39) E573A probably damaging Het
Nlrp3 T C 11: 59,433,949 (GRCm39) V4A probably benign Het
Or2y1d G A 11: 49,321,329 (GRCm39) G9R probably benign Het
Or56b2 A T 7: 104,337,420 (GRCm39) Y66F probably benign Het
Or5ac15 T C 16: 58,940,052 (GRCm39) N127S possibly damaging Het
Pcdhb12 A T 18: 37,569,754 (GRCm39) D300V probably damaging Het
Pik3c2a A T 7: 115,968,083 (GRCm39) C804S probably benign Het
Pkp4 A T 2: 59,167,963 (GRCm39) Q725L probably damaging Het
Ptpre T A 7: 135,255,657 (GRCm39) S119T probably benign Het
Ptprk G A 10: 28,259,643 (GRCm39) R361H probably damaging Het
Ptprr T C 10: 116,024,268 (GRCm39) V193A probably benign Het
Rfx2 C T 17: 57,115,263 (GRCm39) A19T probably benign Het
Rgs4 T A 1: 169,572,880 (GRCm39) M19L probably benign Het
Rnf157 T C 11: 116,249,541 (GRCm39) H225R probably damaging Het
Rnf44 A T 13: 54,829,592 (GRCm39) D341E possibly damaging Het
Sct T A 7: 140,858,767 (GRCm39) Q55L probably damaging Het
Sh3rf1 A T 8: 61,814,779 (GRCm39) H446L possibly damaging Het
Shisa3 A T 5: 67,768,402 (GRCm39) I101F probably damaging Het
Slc6a13 A G 6: 121,313,885 (GRCm39) I543V probably benign Het
Spef2 G A 15: 9,634,738 (GRCm39) A1024V probably damaging Het
St6galnac6 T C 2: 32,509,521 (GRCm39) S330P probably damaging Het
Stard9 G T 2: 120,534,203 (GRCm39) A3487S probably benign Het
Suclg2 T C 6: 95,632,532 (GRCm39) S46G probably damaging Het
Syne2 T C 12: 76,147,868 (GRCm39) V6469A possibly damaging Het
Tada2b C T 5: 36,641,139 (GRCm39) G88D probably damaging Het
Tll1 A T 8: 64,570,937 (GRCm39) probably null Het
Tph2 T A 10: 115,020,712 (GRCm39) H28L probably benign Het
Trmt6 C A 2: 132,657,755 (GRCm39) V34L possibly damaging Het
Ttc22 A G 4: 106,491,408 (GRCm39) T204A probably damaging Het
Umodl1 A T 17: 31,206,942 (GRCm39) M778L probably benign Het
Vcan T C 13: 89,810,065 (GRCm39) H2282R probably damaging Het
Vmn2r77 T A 7: 86,461,123 (GRCm39) S816R probably damaging Het
Vps13c T A 9: 67,858,969 (GRCm39) F2806L probably damaging Het
Zbtb4 C A 11: 69,669,995 (GRCm39) A906D probably damaging Het
Zscan29 A G 2: 120,995,260 (GRCm39) V421A 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
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'- ATAGTCTCATCAGCCAGCAGGACC -3'
(R):5'- TGGAACAAAGTCAGCTCTTGGTGC -3'

Sequencing Primer
(F):5'- AGCCAGCAGGACCCTAAG -3'
(R):5'- GGCTGAAATCCATCATGCCTG -3'
Posted On 2014-05-09