Incidental Mutation 'R7354:Mgam'
ID 570796
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 045440-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R7354 (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 40721732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 350 (Y350F)
Ref Sequence ENSEMBL: ENSMUSP00000144627 (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 probably damaging
Transcript: ENSMUST00000202779
AA Change: Y350F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587
AA Change: Y350F

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: Y231F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: Y231F

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 0.1330 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (82/82)
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
Ago3 T A 4: 126,311,099 (GRCm39) Q38L possibly damaging Het
Apon T A 10: 128,090,607 (GRCm39) I95N probably benign Het
Arid1a G T 4: 133,421,258 (GRCm39) P464Q unknown Het
Arid4b A G 13: 14,339,455 (GRCm39) D503G probably benign Het
Asxl2 T C 12: 3,505,637 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,048,028 (GRCm39) V594D probably damaging Het
Begain A G 12: 108,999,215 (GRCm39) F519L possibly damaging Het
Bora A G 14: 99,284,794 (GRCm39) T15A probably damaging Het
Btbd7 A T 12: 102,804,464 (GRCm39) M192K probably benign Het
Ccdc125 T G 13: 100,814,382 (GRCm39) probably null Het
Cdcp3 G A 7: 130,858,458 (GRCm39) C1042Y possibly damaging Het
Cdcp3 G T 7: 130,873,762 (GRCm39) C1696F unknown Het
Cfap74 G T 4: 155,549,804 (GRCm39) V146L unknown Het
Crisp1 G A 17: 40,630,071 (GRCm39) probably benign Het
Ctbp1 A T 5: 33,407,732 (GRCm39) H292Q possibly damaging Het
Defb5 T A 8: 19,300,750 (GRCm39) M34K probably benign Het
Dnajc27 A G 12: 4,146,249 (GRCm39) I93V probably benign Het
Dqx1 T A 6: 83,037,957 (GRCm39) Y448* probably null Het
Dynap A T 18: 70,374,371 (GRCm39) C52S possibly damaging Het
Ehd4 C A 2: 119,932,613 (GRCm39) R271L probably damaging Het
Ercc2 T G 7: 19,127,579 (GRCm39) I619S possibly damaging Het
Etf1 A G 18: 35,039,040 (GRCm39) I409T probably damaging Het
Fam117a A G 11: 95,271,529 (GRCm39) D367G probably damaging Het
Fancd2 A G 6: 113,572,907 (GRCm39) D1447G unknown Het
Fbxw9 T C 8: 85,788,825 (GRCm39) S192P probably damaging Het
Frzb A T 2: 80,277,153 (GRCm39) L11Q probably damaging Het
Gm14496 T C 2: 181,642,479 (GRCm39) S717P probably damaging Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gm4353 C T 7: 115,683,146 (GRCm39) R145Q probably benign Het
Gpr12 A T 5: 146,520,772 (GRCm39) V50D probably damaging Het
Hes1 T C 16: 29,884,746 (GRCm39) probably null Het
Hmcn1 A T 1: 150,682,196 (GRCm39) C451* probably null Het
Iars1 T C 13: 49,857,796 (GRCm39) V347A probably benign Het
Igfn1 A G 1: 135,903,770 (GRCm39) S323P possibly damaging Het
Itga6 G A 2: 71,650,574 (GRCm39) A207T probably damaging Het
Lgi4 T A 7: 30,760,047 (GRCm39) L81H probably damaging Het
Lrp1 T C 10: 127,407,277 (GRCm39) E1888G probably damaging Het
Man2a1 C T 17: 65,059,539 (GRCm39) T1142M probably damaging Het
Mdfic2 T A 6: 98,215,242 (GRCm39) D127V probably damaging Het
Miga1 T C 3: 151,996,137 (GRCm39) D351G probably damaging Het
Mro A G 18: 74,006,385 (GRCm39) T111A probably benign Het
Mtrr A T 13: 68,714,326 (GRCm39) V471E probably damaging Het
Myh3 C A 11: 66,987,708 (GRCm39) L1394I probably damaging Het
Myocd A G 11: 65,078,319 (GRCm39) V492A probably benign Het
Nbeal2 A G 9: 110,458,247 (GRCm39) F2115S probably damaging Het
Nlrp1b A T 11: 71,072,376 (GRCm39) M489K possibly damaging Het
Or12j5 A C 7: 140,084,099 (GRCm39) I91R probably damaging Het
Or14j7 A G 17: 38,235,284 (GRCm39) I276V probably benign Het
Or1e1c A T 11: 73,266,201 (GRCm39) I212F probably benign Het
Or4c122 T C 2: 89,079,031 (GRCm39) probably null Het
Or4k44 C T 2: 111,367,909 (GRCm39) A242T possibly damaging Het
Orc2 A G 1: 58,508,906 (GRCm39) S462P possibly damaging Het
Pcdh9 T C 14: 94,125,706 (GRCm39) T155A probably benign Het
Pcdhb16 G A 18: 37,611,177 (GRCm39) V46I possibly damaging Het
Pcdhb22 A G 18: 37,653,311 (GRCm39) D336G probably damaging Het
Pde4dip T A 3: 97,626,646 (GRCm39) R1297S probably damaging Het
Plin4 A G 17: 56,411,427 (GRCm39) M868T probably benign Het
Plxnb2 A G 15: 89,049,928 (GRCm39) M531T possibly damaging Het
Poc5 T C 13: 96,531,033 (GRCm39) V77A probably benign Het
Recql5 G A 11: 115,819,027 (GRCm39) R180C probably damaging Het
Rho C A 6: 115,912,464 (GRCm39) Y268* probably null Het
Riok1 A T 13: 38,231,288 (GRCm39) H182L probably benign Het
Rnf207 T C 4: 152,398,548 (GRCm39) D273G probably damaging Het
Serpinb11 A G 1: 107,305,263 (GRCm39) Y213C probably benign Het
Slc16a10 T C 10: 39,952,951 (GRCm39) Y181C probably damaging Het
Slc22a15 G A 3: 101,771,897 (GRCm39) H401Y probably benign Het
Slc5a5 C A 8: 71,342,247 (GRCm39) R268L probably damaging Het
Slc9a8 T C 2: 167,316,051 (GRCm39) F576S possibly damaging Het
Slx4 T C 16: 3,804,963 (GRCm39) E617G probably benign Het
Spata31d1e A T 13: 59,889,648 (GRCm39) L724* probably null Het
Top1 T C 2: 160,546,878 (GRCm39) I386T probably damaging Het
Tor1aip1 G T 1: 155,911,859 (GRCm39) D41E probably damaging Het
Tsc22d4 G A 5: 137,766,371 (GRCm39) R479Q probably benign Het
Unc79 C T 12: 103,108,961 (GRCm39) T2191I possibly damaging Het
Vmn2r109 A T 17: 20,761,043 (GRCm39) D771E probably damaging Het
Vmn2r82 A C 10: 79,192,464 (GRCm39) M14L probably benign Het
Zc3h7a C T 16: 10,966,378 (GRCm39) S583N probably damaging Het
Zfp518b G A 5: 38,840,122 (GRCm39) probably benign Het
Zswim4 A G 8: 84,955,478 (GRCm39) W314R 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
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'- CATAACTGGGCATAGGACTGG -3'
(R):5'- GTTCTGTCCACACCTGGTAG -3'

Sequencing Primer
(F):5'- CATTTCTTGAAGAGTGCGCAC -3'
(R):5'- TGTCCACACCTGGTAGCACAC -3'
Posted On 2019-09-13