Incidental Mutation 'R1833:Mgam'
ID 204943
Institutional Source Beutler Lab
Gene Symbol Mgam
Ensembl Gene ENSMUSG00000068587
Gene Name maltase-glucoamylase
Synonyms 6030407P20Rik
MMRRC Submission 039860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R1833 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 40605765-40746057 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 40631652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148] [ENSMUST00000202636]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
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 null
Transcript: ENSMUST00000202636
SMART Domains Protein: ENSMUSP00000144652
Gene: ENSMUSG00000068587

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
Meta Mutation Damage Score 0.9480 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
4930438A08Rik C T 11: 58,179,214 (GRCm39) Q183* probably null Het
9230009I02Rik A G 11: 50,982,293 (GRCm39) noncoding transcript Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Agtpbp1 A T 13: 59,613,797 (GRCm39) probably null Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Arid4a C T 12: 71,122,240 (GRCm39) L874F possibly damaging Het
Bcas3 G A 11: 85,474,775 (GRCm39) V317I probably benign Het
Ccr1 T A 9: 123,764,126 (GRCm39) I135F probably damaging Het
Ces2h A G 8: 105,747,005 (GRCm39) E547G possibly damaging Het
Ces3b T A 8: 105,812,271 (GRCm39) D173E probably damaging Het
Chd3 A G 11: 69,244,949 (GRCm39) L1197S probably damaging Het
Cngb1 A G 8: 95,968,983 (GRCm39) L1175P probably damaging Het
Cyp4f17 T C 17: 32,743,184 (GRCm39) F286L probably benign Het
Dclre1a C T 19: 56,529,932 (GRCm39) probably null Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dhx16 A G 17: 36,196,511 (GRCm39) T560A probably benign Het
Dusp12 T C 1: 170,702,022 (GRCm39) M326V probably benign Het
Eif3k T C 7: 28,670,852 (GRCm39) I180V probably benign Het
Erc1 A G 6: 119,720,390 (GRCm39) I437T possibly damaging Het
Farp2 T A 1: 93,504,086 (GRCm39) probably benign Het
Foxa3 A G 7: 18,748,499 (GRCm39) L209P probably damaging Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
Gen1 A T 12: 11,298,352 (GRCm39) probably benign Het
Gm10305 A G 4: 99,161,363 (GRCm39) T91A unknown Het
Gm14412 T C 2: 177,007,583 (GRCm39) D104G probably benign Het
Gm6900 T C 7: 10,390,515 (GRCm39) noncoding transcript Het
Gpx1 A T 9: 108,216,555 (GRCm39) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,678,387 (GRCm39) Y146C probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hephl1 T C 9: 14,988,224 (GRCm39) Y628C probably damaging Het
Hspa5 T A 2: 34,666,065 (GRCm39) Y636* probably null Het
Htt A G 5: 35,063,092 (GRCm39) probably benign Het
Idh1 T C 1: 65,200,273 (GRCm39) I364V probably benign Het
Itgae G T 11: 73,007,988 (GRCm39) A423S possibly damaging Het
Kng2 T C 16: 22,830,802 (GRCm39) N169S possibly damaging Het
Larp4b C T 13: 9,201,235 (GRCm39) T369I possibly damaging Het
Lcor T C 19: 41,573,387 (GRCm39) I714T probably benign Het
Lhfpl7 A G 5: 113,382,435 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Magi2 G T 5: 19,432,455 (GRCm39) G57C probably damaging Het
Mdn1 T A 4: 32,720,761 (GRCm39) H2291Q probably damaging Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Msx2 A T 13: 53,622,221 (GRCm39) M263K probably damaging Het
Nectin2 G T 7: 19,451,633 (GRCm39) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,459,863 (GRCm39) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,343,349 (GRCm39) probably benign Het
Or10ad1b T A 15: 98,124,846 (GRCm39) I227F probably damaging Het
Or4c10 T A 2: 89,760,645 (GRCm39) L164* probably null Het
Pcx T A 19: 4,669,132 (GRCm39) V710E probably damaging Het
Pkn2 C T 3: 142,527,408 (GRCm39) R347Q probably damaging Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Qsox1 C T 1: 155,666,791 (GRCm39) G233S probably benign Het
Rbl1 T A 2: 157,037,475 (GRCm39) N224I probably damaging Het
Rspry1 A G 8: 95,362,116 (GRCm39) T132A probably damaging Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4f A T 6: 82,895,540 (GRCm39) L331H probably benign Het
Sf3b3 T A 8: 111,544,198 (GRCm39) Q814L probably benign Het
Slc19a2 T G 1: 164,089,753 (GRCm39) Y190D probably damaging Het
Smarcc1 T A 9: 109,982,879 (GRCm39) H204Q possibly damaging Het
Sox6 T C 7: 115,376,328 (GRCm39) K135E probably damaging Het
Tecpr1 T C 5: 144,145,426 (GRCm39) Q607R probably damaging Het
Tgfb1i1 A G 7: 127,848,670 (GRCm39) probably benign Het
Tirap T G 9: 35,099,999 (GRCm39) R228S probably benign Het
Trp53bp2 T A 1: 182,256,581 (GRCm39) H50Q probably damaging Het
Try4 A G 6: 41,280,365 (GRCm39) H63R probably damaging Het
Vmn2r25 G A 6: 123,816,643 (GRCm39) P313S probably benign Het
Vps26a A C 10: 62,294,825 (GRCm39) L250V probably benign Het
Vwf A G 6: 125,619,000 (GRCm39) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,036,053 (GRCm39) probably benign Het
Zc3hav1l A T 6: 38,274,881 (GRCm39) probably benign Het
Zfp119b T G 17: 56,246,271 (GRCm39) H305P probably damaging Het
Zfp326 C T 5: 106,039,035 (GRCm39) Q134* probably null Het
Zfp975 C T 7: 42,311,263 (GRCm39) R450Q probably benign Het
Zfyve26 A T 12: 79,333,032 (GRCm39) M313K probably benign Het
Zscan5b T C 7: 6,241,965 (GRCm39) S395P possibly 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
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'- TCTCTGCCCCTTTGACCAAAAG -3'
(R):5'- AACCTGTGGCACCATCTTG -3'

Sequencing Primer
(F):5'- TAGGATTCACAGCCACAC -3'
(R):5'- CTCCATGGTATCTATGACAAATGAG -3'
Posted On 2014-06-23