Incidental Mutation 'R8309:Mgam'
ID 641253
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 067794-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R8309 (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 G at 40722111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 401 (I401V)
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 possibly damaging
Transcript: ENSMUST00000202779
AA Change: I401V

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587
AA Change: I401V

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 possibly damaging
Transcript: ENSMUST00000202966
AA Change: I282V

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: I282V

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: 99.3%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,279,599 (GRCm39) Y34F possibly damaging Het
Abcb6 A T 1: 75,149,588 (GRCm39) S664T probably benign Het
Abcc4 C T 14: 118,853,804 (GRCm39) V443M probably damaging Het
Abhd2 G A 7: 78,998,095 (GRCm39) G209D probably damaging Het
Acte1 A G 7: 143,437,680 (GRCm39) N126S possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Apbb2 T A 5: 66,520,179 (GRCm39) M449L probably benign Het
Ccdc81 T A 7: 89,526,786 (GRCm39) probably null Het
Cd209b A T 8: 3,976,559 (GRCm39) C42* probably null Het
Cdhr18 G A 14: 13,814,954 (GRCm38) Q860* probably null Het
Clec18a A T 8: 111,808,689 (GRCm39) M11K probably benign Het
Clock A T 5: 76,402,269 (GRCm39) S130R probably benign Het
Col12a1 G A 9: 79,512,465 (GRCm39) A2910V possibly damaging Het
Col6a4 C T 9: 105,952,414 (GRCm39) A495T probably benign Het
Cyp4f37 A T 17: 32,853,952 (GRCm39) N467I probably damaging Het
Ddo G A 10: 40,513,375 (GRCm39) V106M possibly damaging Het
Dennd5a A G 7: 109,500,332 (GRCm39) L931P probably damaging Het
Dgcr6 A G 16: 17,884,598 (GRCm39) D82G probably damaging Het
Dnah7b T C 1: 46,179,032 (GRCm39) S902P probably damaging Het
Dnal4 T G 15: 79,646,711 (GRCm39) I57L probably benign Het
Dst T A 1: 34,156,592 (GRCm39) I174N probably damaging Het
Dync2i1 T C 12: 116,219,705 (GRCm39) E79G probably damaging Het
Dync2i2 A G 2: 29,922,201 (GRCm39) L420P probably damaging Het
Eeig2 G A 3: 108,934,658 (GRCm39) probably benign Het
Efhb T C 17: 53,756,563 (GRCm39) T363A probably damaging Het
Ehbp1l1 A G 19: 5,767,103 (GRCm39) F1245S probably damaging Het
Eif4g1 A G 16: 20,507,578 (GRCm39) D1453G probably benign Het
Fbp1 T C 13: 63,016,831 (GRCm39) I224V probably benign Het
Gm10782 T G 13: 56,510,948 (GRCm39) F79V noncoding transcript Het
Gpaa1 C G 15: 76,216,160 (GRCm39) R47G possibly damaging Het
Hs2st1 G A 3: 144,143,365 (GRCm39) S226L possibly damaging Het
Hydin A G 8: 111,334,534 (GRCm39) Y4992C probably benign Het
Ikbke A T 1: 131,191,065 (GRCm39) C549* probably null Het
Insrr G A 3: 87,717,749 (GRCm39) G817S probably benign Het
Itgb5 G A 16: 33,685,923 (GRCm39) V88I probably benign Het
Krt78 A G 15: 101,854,922 (GRCm39) V963A probably benign Het
Lars1 T C 18: 42,376,093 (GRCm39) Y239C possibly damaging Het
Map2k5 A G 9: 63,246,361 (GRCm39) probably null Het
Mfn2 A T 4: 147,974,693 (GRCm39) W118R probably benign Het
Mga T A 2: 119,791,411 (GRCm39) I2550N probably damaging Het
Mrps18c A G 5: 100,952,264 (GRCm39) Y141C probably damaging Het
Myo1e A T 9: 70,254,045 (GRCm39) I565L possibly damaging Het
Nfatc4 G A 14: 56,063,848 (GRCm39) E112K probably damaging Het
Nubp1 A G 16: 10,239,486 (GRCm39) M255V probably benign Het
Or13n4 A C 7: 106,423,620 (GRCm39) S38A probably benign Het
Or52a33 A G 7: 103,288,658 (GRCm39) S230P probably damaging Het
Or8g33 C T 9: 39,337,966 (GRCm39) V134I probably benign Het
Pask A T 1: 93,240,573 (GRCm39) C1264* probably null Het
Pcgf2 T C 11: 97,582,569 (GRCm39) T173A probably benign Het
Plcg1 T C 2: 160,595,853 (GRCm39) I574T probably benign Het
Plin4 T C 17: 56,411,437 (GRCm39) T865A probably damaging Het
Pnpt1 T C 11: 29,103,277 (GRCm39) V514A probably benign Het
Ppp1r3a T A 6: 14,719,700 (GRCm39) I405F probably benign Het
Qpctl A G 7: 18,882,398 (GRCm39) V86A probably benign Het
Rab3gap1 G T 1: 127,837,655 (GRCm39) W239L possibly damaging Het
Ralgapa2 T A 2: 146,246,786 (GRCm39) T939S possibly damaging Het
Rapgef2 G T 3: 78,990,509 (GRCm39) T923N possibly damaging Het
Rit2 T A 18: 31,286,898 (GRCm39) I96F probably damaging Het
Rnase13 A T 14: 52,159,893 (GRCm39) I82N probably damaging Het
Rp1 C A 1: 4,417,312 (GRCm39) V1267L probably benign Het
Serpinb9b G A 13: 33,223,554 (GRCm39) E249K probably damaging Het
Serpinb9c G T 13: 33,334,094 (GRCm39) T344K possibly damaging Het
Serpinh1 T C 7: 98,998,151 (GRCm39) I160V possibly damaging Het
Sipa1 A G 19: 5,704,964 (GRCm39) S544P probably damaging Het
Slc17a5 A T 9: 78,478,311 (GRCm39) Y231* probably null Het
Srcap T C 7: 127,148,529 (GRCm39) V1959A probably damaging Het
Srrm4 G A 5: 116,729,626 (GRCm39) probably benign Het
Stat1 T C 1: 52,190,404 (GRCm39) I553T possibly damaging Het
Stpg1 A G 4: 135,256,903 (GRCm39) I231M probably benign Het
Szt2 G GC 4: 118,232,679 (GRCm39) probably null Het
Trpv3 C T 11: 73,170,747 (GRCm39) T209M probably damaging Het
Tsc22d2 G T 3: 58,324,544 (GRCm39) G479C unknown Het
Ttc3 A G 16: 94,267,838 (GRCm39) H1950R probably damaging Het
Tusc3 A G 8: 39,617,882 (GRCm39) *348W probably null Het
Utp4 A T 8: 107,642,853 (GRCm39) T504S probably benign Het
Vmn1r15 A G 6: 57,235,635 (GRCm39) M168V probably benign Het
Wdsub1 C T 2: 59,704,578 (GRCm39) probably benign Het
Xrcc5 T A 1: 72,358,286 (GRCm39) M207K possibly damaging Het
Zc3h7a A T 16: 10,964,417 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,345,750 (GRCm39) N1376K possibly damaging Het
Zfp558 A C 9: 18,368,213 (GRCm39) S192A probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp964 A G 8: 70,115,924 (GRCm39) T175A possibly damaging Het
Zfp988 A G 4: 147,416,765 (GRCm39) R400G 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
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'- GGTGTGGACAGAACCTTTCC -3'
(R):5'- GTTAAGGAAAGCAGTTACTCAGAGTC -3'

Sequencing Primer
(F):5'- TGGACAGAACCTTTCCAATCCTGATG -3'
(R):5'- GCAGTTACTCAGAGTCAGACCAG -3'
Posted On 2020-07-28