Incidental Mutation 'R7466:Mgam'
ID 578768
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 045540-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R7466 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 40628831-40769123 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40744789 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 347 (N347S)
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 benign
Transcript: ENSMUST00000202779
AA Change: N347S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587
AA Change: N347S

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: N228S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: N228S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T A 2: 35,088,741 (GRCm38) K203* probably null Het
Akr1c13 T C 13: 4,192,437 (GRCm38) probably benign Het
Amer3 A G 1: 34,587,993 (GRCm38) S438G probably damaging Het
Aqp9 T A 9: 71,163,261 (GRCm38) probably null Het
Art4 G T 6: 136,854,850 (GRCm38) H98N probably damaging Het
Bdh1 T C 16: 31,447,604 (GRCm38) S70P probably benign Het
Ccdc61 A C 7: 18,891,105 (GRCm38) Y503D probably damaging Het
Cd163l1 T C 7: 140,220,706 (GRCm38) probably null Het
Cd180 A T 13: 102,704,995 (GRCm38) N183I probably damaging Het
Cd200r2 C T 16: 44,909,174 (GRCm38) A64V probably damaging Het
Ceacam9 A C 7: 16,723,855 (GRCm38) K98Q probably benign Het
Cep44 AACGC A 8: 56,540,983 (GRCm38) probably null Het
Cfap77 G T 2: 28,955,613 (GRCm38) D247E probably benign Het
Cftr T C 6: 18,227,973 (GRCm38) M388T probably benign Het
Chrnb1 G A 11: 69,784,650 (GRCm38) H493Y probably damaging Het
Ckap2 A C 8: 22,177,386 (GRCm38) M153R probably benign Het
Cnot6l A G 5: 96,131,128 (GRCm38) V77A probably benign Het
Col12a1 C T 9: 79,655,407 (GRCm38) E1798K possibly damaging Het
Cth T A 3: 157,924,885 (GRCm38) D49V probably benign Het
Ctnnb1 T C 9: 120,955,416 (GRCm38) S425P probably damaging Het
Ctnnd1 T C 2: 84,610,785 (GRCm38) N690S probably benign Het
Cyhr1 C T 15: 76,648,186 (GRCm38) D241N probably benign Het
Dennd4c A G 4: 86,774,331 (GRCm38) D26G probably damaging Het
Dlg5 G A 14: 24,245,212 (GRCm38) P80L probably damaging Het
Eef2k A G 7: 120,903,484 (GRCm38) probably null Het
Ephb2 C T 4: 136,659,065 (GRCm38) R791H probably damaging Het
Erh T C 12: 80,640,983 (GRCm38) Y22C probably benign Het
F5 C T 1: 164,193,328 (GRCm38) T1124I possibly damaging Het
Fam220a T A 5: 143,563,471 (GRCm38) C213S possibly damaging Het
Fat2 G T 11: 55,310,432 (GRCm38) N605K probably damaging Het
Ganab C A 19: 8,914,569 (GRCm38) S780* probably null Het
Gbgt1 C T 2: 28,502,207 (GRCm38) P67S probably damaging Het
Gm17190 G T 13: 96,082,779 (GRCm38) G208* probably null Het
Grhl2 A G 15: 37,291,616 (GRCm38) Y316C probably damaging Het
H2-T10 T C 17: 36,120,849 (GRCm38) T38A probably benign Het
Ins1 A G 19: 52,264,420 (GRCm38) probably benign Het
Ippk T C 13: 49,432,467 (GRCm38) probably null Het
Klc4 T A 17: 46,639,910 (GRCm38) I258F probably benign Het
Manba C A 3: 135,542,393 (GRCm38) L348I probably benign Het
Myo18b T C 5: 112,723,892 (GRCm38) T2108A probably benign Het
Naip5 A T 13: 100,221,986 (GRCm38) L914* probably null Het
Nsa2 C T 13: 97,131,220 (GRCm38) A242T probably benign Het
Nsd2 G A 5: 33,882,147 (GRCm38) W834* probably null Het
Olfr1134 T C 2: 87,656,396 (GRCm38) N175S possibly damaging Het
Olfr1419 T A 19: 11,870,316 (GRCm38) D300V possibly damaging Het
Olfr285 T C 15: 98,313,380 (GRCm38) M57V probably damaging Het
Olfr469 A T 7: 107,822,922 (GRCm38) C182* probably null Het
Pam A T 1: 97,842,247 (GRCm38) D599E probably damaging Het
Phf20l1 A G 15: 66,636,884 (GRCm38) K864R probably damaging Het
Plcl2 A G 17: 50,608,468 (GRCm38) D835G probably damaging Het
Ppm1m C A 9: 106,196,157 (GRCm38) A329S probably damaging Het
Prep T C 10: 45,150,438 (GRCm38) V486A probably benign Het
Prkcb A T 7: 122,516,844 (GRCm38) N182I probably damaging Het
Prkcz A G 4: 155,271,602 (GRCm38) F355S probably damaging Het
Psg20 C T 7: 18,684,467 (GRCm38) S125N probably benign Het
Psmd12 A G 11: 107,492,057 (GRCm38) D234G probably benign Het
Pvrig A T 5: 138,342,008 (GRCm38) M14L probably benign Het
Rabgap1l C T 1: 160,226,484 (GRCm38) probably null Het
Rfc1 A T 5: 65,275,426 (GRCm38) C764S probably damaging Het
Ryr3 T C 2: 112,926,957 (GRCm38) D351G probably benign Het
Serpinb9g T C 13: 33,495,167 (GRCm38) F340S probably benign Het
Sirpb1c C A 3: 15,832,266 (GRCm38) L315F probably damaging Het
Slc24a1 C G 9: 64,928,404 (GRCm38) E814Q unknown Het
Slc26a11 A T 11: 119,374,502 (GRCm38) Q355L probably damaging Het
Sp100 C T 1: 85,707,239 (GRCm38) L483F possibly damaging Het
St5 A G 7: 109,525,346 (GRCm38) L1096P probably damaging Het
Ston1 T A 17: 88,635,901 (GRCm38) M245K probably benign Het
Swap70 T A 7: 110,274,772 (GRCm38) D442E probably benign Het
Syne2 T A 12: 76,046,186 (GRCm38) V450D possibly damaging Het
Tbck T A 3: 132,752,563 (GRCm38) N651K probably damaging Het
Timd4 A T 11: 46,817,758 (GRCm38) T204S probably benign Het
Tmem102 A G 11: 69,804,885 (GRCm38) L87P probably damaging Het
Tmem55a T A 4: 14,912,477 (GRCm38) Y195* probably null Het
Tmprss11e T A 5: 86,709,480 (GRCm38) T325S probably benign Het
Trpm1 G A 7: 64,240,582 (GRCm38) V978M probably damaging Het
Wdr12 A T 1: 60,094,511 (GRCm38) D19E probably benign Het
Wdr35 G A 12: 9,005,773 (GRCm38) V482I probably benign Het
Wdr63 T C 3: 146,055,618 (GRCm38) D661G probably benign Het
Zer1 T C 2: 30,101,484 (GRCm38) probably null Het
Zfp503 T C 14: 21,986,011 (GRCm38) D279G probably benign Het
Zfp870 A T 17: 32,883,762 (GRCm38) C198S possibly damaging Het
Zfyve26 C T 12: 79,287,807 (GRCm38) E146K probably benign Het
Zkscan6 T C 11: 65,828,531 (GRCm38) V459A probably damaging Het
Other mutations in Mgam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Mgam APN 6 40,643,010 (GRCm38) missense probably benign
IGL01065:Mgam APN 6 40,662,710 (GRCm38) critical splice donor site probably null
IGL01402:Mgam APN 6 40,644,945 (GRCm38) missense probably benign 0.01
IGL01404:Mgam APN 6 40,644,945 (GRCm38) missense probably benign 0.01
IGL01413:Mgam APN 6 40,661,277 (GRCm38) missense probably damaging 1.00
IGL01546:Mgam APN 6 40,654,693 (GRCm38) missense probably damaging 0.98
IGL01596:Mgam APN 6 40,658,270 (GRCm38) missense probably damaging 1.00
IGL02133:Mgam APN 6 40,643,076 (GRCm38) missense probably damaging 0.98
IGL02734:Mgam APN 6 40,662,694 (GRCm38) missense probably damaging 1.00
BB002:Mgam UTSW 6 40,759,051 (GRCm38) missense probably damaging 0.99
BB012:Mgam UTSW 6 40,759,051 (GRCm38) missense probably damaging 0.99
R0012:Mgam UTSW 6 40,765,256 (GRCm38) splice site probably null
R0116:Mgam UTSW 6 40,658,987 (GRCm38) missense probably damaging 1.00
R0310:Mgam UTSW 6 40,761,035 (GRCm38) splice site probably benign
R0452:Mgam UTSW 6 40,759,090 (GRCm38) missense probably damaging 1.00
R0497:Mgam UTSW 6 40,664,892 (GRCm38) missense probably damaging 1.00
R0699:Mgam UTSW 6 40,643,019 (GRCm38) missense possibly damaging 0.84
R0738:Mgam UTSW 6 40,754,935 (GRCm38) missense probably benign 0.01
R1033:Mgam UTSW 6 40,680,624 (GRCm38) missense probably benign 0.07
R1403:Mgam UTSW 6 40,666,881 (GRCm38) missense possibly damaging 0.93
R1403:Mgam UTSW 6 40,666,881 (GRCm38) missense possibly damaging 0.93
R1430:Mgam UTSW 6 40,756,371 (GRCm38) missense probably benign 0.08
R1432:Mgam UTSW 6 40,756,367 (GRCm38) missense probably damaging 1.00
R1443:Mgam UTSW 6 40,759,780 (GRCm38) nonsense probably null
R1470:Mgam UTSW 6 40,759,128 (GRCm38) missense probably damaging 1.00
R1470:Mgam UTSW 6 40,759,128 (GRCm38) missense probably damaging 1.00
R1519:Mgam UTSW 6 40,661,683 (GRCm38) missense probably benign 0.45
R1654:Mgam UTSW 6 40,757,487 (GRCm38) missense probably damaging 1.00
R1667:Mgam UTSW 6 40,677,044 (GRCm38) missense possibly damaging 0.62
R1730:Mgam UTSW 6 40,664,860 (GRCm38) missense possibly damaging 0.92
R1781:Mgam UTSW 6 40,669,863 (GRCm38) missense probably damaging 1.00
R1783:Mgam UTSW 6 40,664,860 (GRCm38) missense possibly damaging 0.92
R1829:Mgam UTSW 6 40,666,892 (GRCm38) missense probably damaging 1.00
R1833:Mgam UTSW 6 40,654,718 (GRCm38) critical splice donor site probably null
R1872:Mgam UTSW 6 40,661,300 (GRCm38) nonsense probably null
R1912:Mgam UTSW 6 40,764,185 (GRCm38) nonsense probably null
R1977:Mgam UTSW 6 40,664,880 (GRCm38) missense probably benign 0.01
R2048:Mgam UTSW 6 40,656,429 (GRCm38) missense possibly damaging 0.80
R2086:Mgam UTSW 6 40,761,028 (GRCm38) splice site probably null
R2138:Mgam UTSW 6 40,756,450 (GRCm38) missense probably damaging 1.00
R2224:Mgam UTSW 6 40,764,274 (GRCm38) splice site probably null
R2408:Mgam UTSW 6 40,686,522 (GRCm38) missense probably damaging 1.00
R2508:Mgam UTSW 6 40,759,783 (GRCm38) missense probably damaging 1.00
R2842:Mgam UTSW 6 40,661,345 (GRCm38) missense probably benign 0.01
R2847:Mgam UTSW 6 40,652,715 (GRCm38) missense possibly damaging 0.67
R2848:Mgam UTSW 6 40,652,715 (GRCm38) missense possibly damaging 0.67
R2965:Mgam UTSW 6 40,768,220 (GRCm38) missense possibly damaging 0.46
R2966:Mgam UTSW 6 40,768,220 (GRCm38) missense possibly damaging 0.46
R3035:Mgam UTSW 6 40,663,530 (GRCm38) missense probably benign
R3895:Mgam UTSW 6 40,759,120 (GRCm38) missense probably damaging 1.00
R4027:Mgam UTSW 6 40,754,902 (GRCm38) missense probably damaging 1.00
R4030:Mgam UTSW 6 40,754,902 (GRCm38) missense probably damaging 1.00
R4302:Mgam UTSW 6 40,763,085 (GRCm38) missense probably benign 0.02
R4707:Mgam UTSW 6 40,714,632 (GRCm38) splice site probably null
R4826:Mgam UTSW 6 40,680,648 (GRCm38) missense possibly damaging 0.52
R4898:Mgam UTSW 6 40,643,054 (GRCm38) missense probably benign
R5438:Mgam UTSW 6 40,684,521 (GRCm38) missense probably damaging 1.00
R5492:Mgam UTSW 6 40,756,363 (GRCm38) missense probably damaging 1.00
R5770:Mgam UTSW 6 40,669,804 (GRCm38) missense probably benign 0.01
R5839:Mgam UTSW 6 40,740,064 (GRCm38) missense possibly damaging 0.90
R5845:Mgam UTSW 6 40,675,323 (GRCm38) missense possibly damaging 0.78
R5847:Mgam UTSW 6 40,684,055 (GRCm38) missense probably benign 0.42
R5891:Mgam UTSW 6 40,744,348 (GRCm38) missense probably benign
R6158:Mgam UTSW 6 40,757,714 (GRCm38) missense probably damaging 1.00
R6193:Mgam UTSW 6 40,747,920 (GRCm38) nonsense probably null
R6423:Mgam UTSW 6 40,677,045 (GRCm38) missense possibly damaging 0.84
R6706:Mgam UTSW 6 40,744,786 (GRCm38) missense probably benign 0.00
R6813:Mgam UTSW 6 40,750,165 (GRCm38) missense probably damaging 0.99
R6863:Mgam UTSW 6 40,729,009 (GRCm38) missense probably benign 0.00
R6906:Mgam UTSW 6 40,747,919 (GRCm38) missense probably damaging 1.00
R7091:Mgam UTSW 6 40,768,276 (GRCm38) missense possibly damaging 0.95
R7099:Mgam UTSW 6 40,661,716 (GRCm38) missense probably benign 0.09
R7282:Mgam UTSW 6 40,763,111 (GRCm38) missense probably benign
R7282:Mgam UTSW 6 40,656,512 (GRCm38) missense possibly damaging 0.71
R7354:Mgam UTSW 6 40,744,798 (GRCm38) missense probably damaging 1.00
R7374:Mgam UTSW 6 40,757,439 (GRCm38) missense possibly damaging 0.89
R7399:Mgam UTSW 6 40,666,854 (GRCm38) missense probably damaging 0.99
R7406:Mgam UTSW 6 40,663,525 (GRCm38) missense probably benign 0.13
R7446:Mgam UTSW 6 40,746,332 (GRCm38) missense probably damaging 1.00
R7525:Mgam UTSW 6 40,766,020 (GRCm38) missense probably benign 0.01
R7530:Mgam UTSW 6 40,709,218 (GRCm38) splice site probably null
R7570:Mgam UTSW 6 40,746,433 (GRCm38) missense probably benign 0.16
R7669:Mgam UTSW 6 40,659,010 (GRCm38) missense probably benign 0.00
R7679:Mgam UTSW 6 40,643,046 (GRCm38) missense probably damaging 0.98
R7746:Mgam UTSW 6 40,668,193 (GRCm38) missense probably damaging 0.99
R7859:Mgam UTSW 6 40,740,179 (GRCm38) missense possibly damaging 0.75
R7925:Mgam UTSW 6 40,759,051 (GRCm38) missense probably damaging 0.99
R8206:Mgam UTSW 6 40,680,235 (GRCm38) missense probably benign 0.00
R8244:Mgam UTSW 6 40,750,586 (GRCm38) missense probably damaging 1.00
R8309:Mgam UTSW 6 40,745,177 (GRCm38) missense possibly damaging 0.88
R8472:Mgam UTSW 6 40,694,526 (GRCm38) splice site probably null
R8758:Mgam UTSW 6 40,729,043 (GRCm38) missense probably benign 0.41
R8777:Mgam UTSW 6 40,655,251 (GRCm38) missense probably damaging 0.97
R8777-TAIL:Mgam UTSW 6 40,655,251 (GRCm38) missense probably damaging 0.97
R8783:Mgam UTSW 6 40,656,489 (GRCm38) missense probably damaging 0.99
R8939:Mgam UTSW 6 40,763,203 (GRCm38) critical splice donor site probably null
R8968:Mgam UTSW 6 40,757,811 (GRCm38) critical splice acceptor site probably null
R8987:Mgam UTSW 6 40,729,636 (GRCm38) missense probably damaging 1.00
R9055:Mgam UTSW 6 40,714,729 (GRCm38) intron probably benign
R9171:Mgam UTSW 6 40,768,212 (GRCm38) missense possibly damaging 0.76
R9252:Mgam UTSW 6 40,729,643 (GRCm38) missense probably damaging 0.99
R9258:Mgam UTSW 6 40,680,187 (GRCm38) missense probably benign
R9262:Mgam UTSW 6 40,746,488 (GRCm38) critical splice donor site probably null
R9287:Mgam UTSW 6 40,728,971 (GRCm38) intron probably benign
R9521:Mgam UTSW 6 40,745,184 (GRCm38) missense probably damaging 1.00
R9589:Mgam UTSW 6 40,750,585 (GRCm38) missense probably damaging 1.00
R9658:Mgam UTSW 6 40,744,377 (GRCm38) missense possibly damaging 0.93
R9784:Mgam UTSW 6 40,759,090 (GRCm38) missense probably damaging 1.00
RF011:Mgam UTSW 6 40,757,436 (GRCm38) missense probably damaging 1.00
RF020:Mgam UTSW 6 40,685,309 (GRCm38) missense probably damaging 1.00
RF023:Mgam UTSW 6 40,680,708 (GRCm38) missense probably benign
X0021:Mgam UTSW 6 40,659,047 (GRCm38) missense probably damaging 1.00
Z1088:Mgam UTSW 6 40,643,060 (GRCm38) missense probably benign 0.01
Z1176:Mgam UTSW 6 40,729,066 (GRCm38) missense probably damaging 1.00
Z1176:Mgam UTSW 6 40,677,644 (GRCm38) critical splice donor site probably null
Z1177:Mgam UTSW 6 40,740,071 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATAACTGGGCATAGGACTG -3'
(R):5'- AGGTTCTGTCCACACCTGGTAG -3'

Sequencing Primer
(F):5'- GTACATTTCTTGAAGAGTGCGCAC -3'
(R):5'- TGTCCACACCTGGTAGCACAC -3'
Posted On 2019-10-07