Incidental Mutation 'R8783:Mgam'
ID 670400
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 068631-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R8783 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 40605765-40746057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40633423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 243 (H243L)
Ref Sequence ENSEMBL: ENSMUSP00000071466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148] [ENSMUST00000202636]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000071535
AA Change: H243L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: H243L

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: H243L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: H243L

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: ENSMUST00000202636
AA Change: H206L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144652
Gene: ENSMUSG00000068587
AA Change: H206L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (75/75)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik T A 13: 54,700,520 (GRCm39) M273L probably benign Het
Aars1 A G 8: 111,776,515 (GRCm39) N657S probably benign Het
Ahnak A T 19: 8,988,837 (GRCm39) N3374Y probably damaging Het
Ank2 T C 3: 126,846,455 (GRCm39) E180G probably damaging Het
Arhgap20 T A 9: 51,727,967 (GRCm39) probably benign Het
Armc5 G A 7: 127,837,425 (GRCm39) A43T probably damaging Het
Atad3a T A 4: 155,840,152 (GRCm39) D142V probably damaging Het
B4galnt4 A T 7: 140,643,759 (GRCm39) K54M probably damaging Het
Bcl11b T C 12: 107,883,562 (GRCm39) E251G probably damaging Het
Bptf A G 11: 107,022,357 (GRCm39) V131A unknown Het
Btbd7 T A 12: 102,754,501 (GRCm39) H755L probably benign Het
Cadps2 A G 6: 23,302,303 (GRCm39) V1128A possibly damaging Het
Ccl2 T C 11: 81,927,360 (GRCm39) I43T probably damaging Het
Cdc25b T G 2: 131,033,772 (GRCm39) S207A probably benign Het
Chd4 A G 6: 125,100,347 (GRCm39) T1725A possibly damaging Het
Cmya5 A T 13: 93,225,888 (GRCm39) S3067T possibly damaging Het
Col9a3 G A 2: 180,255,970 (GRCm39) D448N probably damaging Het
Cpxm1 C A 2: 130,237,643 (GRCm39) R187S probably benign Het
Cramp1 T A 17: 25,193,732 (GRCm39) N916I probably damaging Het
Creld1 A G 6: 113,468,686 (GRCm39) Y269C probably damaging Het
Ctsz G T 2: 174,280,675 (GRCm39) S6* probably null Het
Cul7 T C 17: 46,966,575 (GRCm39) S633P probably benign Het
Eci2 T A 13: 35,174,180 (GRCm39) N160I probably damaging Het
Eef2 T A 10: 81,015,499 (GRCm39) M340K probably damaging Het
Enpp6 A T 8: 47,440,220 (GRCm39) Y72F possibly damaging Het
Erbb4 A C 1: 68,079,331 (GRCm39) Y1250D possibly damaging Het
Fhad1 C T 4: 141,636,403 (GRCm39) V1146M probably benign Het
Fryl T C 5: 73,226,185 (GRCm39) Y1826C probably benign Het
Gm3252 A G 14: 4,743,761 (GRCm38) K200E probably benign Het
Gramd1a T C 7: 30,832,220 (GRCm39) T640A possibly damaging Het
Gse1 A T 8: 121,303,117 (GRCm39) Q1086L unknown Het
Gtf2f2 C A 14: 76,245,164 (GRCm39) G41W probably damaging Het
Hhat A G 1: 192,196,245 (GRCm39) Y483H probably damaging Het
Ifna13 T A 4: 88,562,526 (GRCm39) R33W probably damaging Het
Ighg2c T A 12: 113,252,412 (GRCm39) S47C Het
Ing5 A T 1: 93,740,154 (GRCm39) D101V probably damaging Het
Kif23 T C 9: 61,834,853 (GRCm39) T379A probably benign Het
Ltn1 A T 16: 87,207,247 (GRCm39) S898T probably benign Het
Mep1a T C 17: 43,789,081 (GRCm39) D578G probably benign Het
Mlf1 G A 3: 67,291,997 (GRCm39) R54H probably benign Het
Mtus2 A T 5: 148,019,861 (GRCm39) K752M probably damaging Het
Muc21 T C 17: 35,930,875 (GRCm39) T1104A unknown Het
Mup18 T A 4: 61,591,767 (GRCm39) D53V probably benign Het
Neb A T 2: 52,148,644 (GRCm39) D2634E probably damaging Het
Nfatc3 A T 8: 106,825,784 (GRCm39) I620F possibly damaging Het
Nrg1 A T 8: 32,448,629 (GRCm39) L104Q probably benign Het
Nsd2 T A 5: 34,036,455 (GRCm39) D646E possibly damaging Het
Or10w1 A T 19: 13,632,323 (GRCm39) R177W probably damaging Het
Or4p19 T C 2: 88,242,951 (GRCm39) N17S probably benign Het
Or51ai2 A T 7: 103,586,751 (GRCm39) T55S possibly damaging Het
Pbp2 T C 6: 135,287,330 (GRCm39) S6G probably benign Het
Pcdhga5 T C 18: 37,828,596 (GRCm39) I348T probably benign Het
Pdxk A G 10: 78,287,339 (GRCm39) V74A probably benign Het
Pdzrn3 C T 6: 101,132,841 (GRCm39) R469H probably damaging Het
Pla2g4a A T 1: 149,740,741 (GRCm39) S395R probably damaging Het
Polr2i A G 7: 29,931,790 (GRCm39) Y7C possibly damaging Het
Psmc5 A T 11: 106,153,858 (GRCm39) K397N possibly damaging Het
Ptprz1 A G 6: 23,002,026 (GRCm39) D1372G probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rapgef2 A T 3: 79,005,651 (GRCm39) V181E probably damaging Het
Rassf3 T G 10: 121,253,069 (GRCm39) N46T probably benign Het
Rnf123 T C 9: 107,946,272 (GRCm39) E301G probably benign Het
Sec24b T A 3: 129,783,342 (GRCm39) M1099L probably benign Het
Shisa4 A G 1: 135,300,944 (GRCm39) C109R probably damaging Het
Slc7a1 T A 5: 148,279,643 (GRCm39) E237V probably benign Het
Syna C T 5: 134,588,723 (GRCm39) M75I probably benign Het
Tas2r105 A G 6: 131,663,732 (GRCm39) I232T possibly damaging Het
Tas2r136 T C 6: 132,754,612 (GRCm39) T172A probably benign Het
Tdpoz8 A G 3: 92,981,780 (GRCm39) Y192C probably damaging Het
Trim6 G A 7: 103,874,853 (GRCm39) C30Y probably damaging Het
Trim65 T A 11: 116,017,143 (GRCm39) N440Y probably damaging Het
Ttn A C 2: 76,573,694 (GRCm39) I25733S probably damaging Het
Ttn T G 2: 76,619,358 (GRCm39) T16035P probably damaging Het
Vmn2r73 A T 7: 85,507,668 (GRCm39) M548K probably damaging Het
Vmn2r88 A T 14: 51,651,523 (GRCm39) E279V Het
Wfdc8 G A 2: 164,447,769 (GRCm39) S97F probably benign Het
Wrn G A 8: 33,826,041 (GRCm39) A207V probably null Het
Xrcc2 T C 5: 25,897,217 (GRCm39) D244G possibly damaging Het
Zfp251 C T 15: 76,737,413 (GRCm39) G560E 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
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
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'- CACTTGTCTGTGGAGAGTACTGAG -3'
(R):5'- CCCTTATCACCAGCTTCAAGG -3'

Sequencing Primer
(F):5'- GGAGAGTACTGAGTCTTTCTCTCC -3'
(R):5'- CAATTGTAGAACCCCAATGTGG -3'
Posted On 2021-04-30