Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Mgam'

574024

Institutional Source

Beutler Lab

Gene Symbol

Mgam

Ensembl Gene

ENSMUSG00000068587

Gene Name

maltase-glucoamylase

Synonyms

6030407P20Rik

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40628831-40769123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40666854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 572 (V572E)

Ref Sequence

ENSEMBL: ENSMUSP00000071466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071535
AA Change: V572E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: V572E

Domain	Start	End	E-Value	Type
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: V572E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: V572E

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
Arfgef1	T	A	1: 10,180,897 (GRCm38)	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060 (GRCm38)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Cby2	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644 (GRCm38)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Ldhb	A	G	6: 142,495,673 (GRCm38)	C164R	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727 (GRCm38)	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Or52z12	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Or5b98	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Or5g25	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Or6b1	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Or6c6	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Or8h10	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,236,279 (GRCm38)	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,627,965 (GRCm38)	R380L	probably benign	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,927,613 (GRCm38)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in Mgam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7466:Mgam	UTSW	6	40,744,789 (GRCm38)	missense	probably benign	0.00
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'- CAAGGCTGCTTTTGAAGTGG -3'
(R):5'- AAGGGACTCACCATTGGGATAC -3'

Sequencing Primer
(F):5'- TTTGAAGTGGTAGGAAATTATGAGTC -3'
(R):5'- GCGGTGTTATCTCCTAAC -3'

Posted On

2019-09-13