Mutagenetix > Incidental Mutation

Incidental Mutation 'R7925:Mgam'

643269

Institutional Source

Beutler Lab

Gene Symbol

Mgam

Ensembl Gene

ENSMUSG00000068587

Gene Name

maltase-glucoamylase

Synonyms

6030407P20Rik

MMRRC Submission

045972-MU

Accession Numbers

Essential gene?

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

Stock #

R7925 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

40628831-40769123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40759051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1574 (T1574I)

Ref Sequence

ENSEMBL: ENSMUSP00000071466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148] [ENSMUST00000202779] [ENSMUST00000202966]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071535
AA Change: T1574I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: T1574I

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: T1574I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: T1574I

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

possibly damaging
Transcript: ENSMUST00000202779
AA Change: T947I

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587
AA Change: T947I

Domain	Start	End	E-Value	Type
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: T828I

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: T828I

Domain	Start	End	E-Value	Type
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: 99.9%
20x: 99.7%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,994,082 (GRCm38)	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,180,501 (GRCm38)	L473V	probably benign	Het
A930002H24Rik	A	T	17: 63,863,397 (GRCm38)	V132E	unknown	Het
Abcc2	A	G	19: 43,807,112 (GRCm38)	I436V	probably benign	Het
Ahr	G	A	12: 35,515,068 (GRCm38)	Q103*	probably null	Het
Asb15	T	A	6: 24,562,724 (GRCm38)	H228Q	probably benign	Het
Asphd1	T	A	7: 126,948,456 (GRCm38)	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,442,770 (GRCm38)	M468T	possibly damaging	Het
BC030499	T	C	11: 78,291,623 (GRCm38)	L86P	probably damaging	Het
Brca1	A	G	11: 101,508,146 (GRCm38)	I1540T	probably benign	Het
Cdh20	A	T	1: 104,984,748 (GRCm38)	I576F	probably damaging	Het
Chst11	T	A	10: 83,190,954 (GRCm38)	S72T	probably damaging	Het
Cldn17	T	G	16: 88,506,645 (GRCm38)	K65N	probably damaging	Het
Cldn22	T	C	8: 47,825,187 (GRCm38)	I220T	probably benign	Het
Coasy	T	G	11: 101,083,696 (GRCm38)	D229E	probably benign	Het
Colec10	T	C	15: 54,462,371 (GRCm38)	V199A	probably damaging	Het
Cpn2	G	T	16: 30,260,801 (GRCm38)	D27E	probably damaging	Het
F5	T	A	1: 164,176,366 (GRCm38)		probably null	Het
Fat3	C	T	9: 16,031,360 (GRCm38)	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 25,816,906 (GRCm38)	N159S	probably benign	Het
Fhad1	A	G	4: 141,954,187 (GRCm38)	I514T	probably damaging	Het
Fras1	A	G	5: 96,781,584 (GRCm38)	K3949R	probably damaging	Het
Gm8126	A	G	14: 43,261,566 (GRCm38)	N164S	probably damaging	Het
Grm3	T	A	5: 9,589,880 (GRCm38)	E55V	probably benign	Het
Itgbl1	G	A	14: 123,973,323 (GRCm38)	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,354,509 (GRCm38)	Y77*	probably null	Het
Kdm4c	T	C	4: 74,404,821 (GRCm38)	S997P	probably damaging	Het
Kti12	A	C	4: 108,848,246 (GRCm38)	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247 (GRCm38)	E119D	probably benign	Het
Lrrc28	T	C	7: 67,619,109 (GRCm38)	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,715,880 (GRCm38)	W203R	probably benign	Het
Lrrc66	A	T	5: 73,608,492 (GRCm38)	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,077,918 (GRCm38)	E45V	probably damaging	Het
Msrb2	A	T	2: 19,383,280 (GRCm38)	M80L	probably benign	Het
Musk	T	A	4: 58,367,513 (GRCm38)	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,450,586 (GRCm38)	N539K	probably benign	Het
Obscn	C	G	11: 59,112,555 (GRCm38)	E1306Q	probably benign	Het
Olfr1006	T	C	2: 85,674,563 (GRCm38)	E196G		Het
Olfr1291-ps1	A	G	2: 111,499,821 (GRCm38)	S190G	probably damaging	Het
Olfr355	A	G	2: 36,927,359 (GRCm38)	F252L	possibly damaging	Het
Olfr388-ps1	A	G	11: 73,724,536 (GRCm38)	S163P	unknown	Het
Opalin	T	A	19: 41,063,803 (GRCm38)	*144C	probably null	Het
Pdgfra	T	A	5: 75,192,418 (GRCm38)		probably benign	Het
Pgam2	T	A	11: 5,803,007 (GRCm38)	H196L	possibly damaging	Het
Pgls	T	C	8: 71,592,352 (GRCm38)	S46P	probably damaging	Het
Prrc2b	A	G	2: 32,204,115 (GRCm38)	E503G	probably damaging	Het
Prss45	T	C	9: 110,841,035 (GRCm38)	L304P	unknown	Het
Rbm20	T	A	19: 53,813,322 (GRCm38)	V87D	probably damaging	Het
Serpinb8	T	C	1: 107,598,985 (GRCm38)	L85S	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437 (GRCm38)		probably benign	Het
Sh2b2	A	T	5: 136,224,261 (GRCm38)	H352Q	probably benign	Het
Slc6a17	T	C	3: 107,495,740 (GRCm38)	I124V	probably damaging	Het
Smim10l1	G	A	6: 133,105,582 (GRCm38)	V31M	probably damaging	Het
Snx10	T	C	6: 51,580,321 (GRCm38)	S78P	probably benign	Het
Stard10	T	C	7: 101,342,631 (GRCm38)	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357 (GRCm38)	D2146E	probably benign	Het
Tsc22d4	A	G	5: 137,751,365 (GRCm38)	D301G	probably null	Het
Ube3c	T	A	5: 29,646,431 (GRCm38)	I752N	probably damaging	Het
Wisp2	G	C	2: 163,829,041 (GRCm38)	R156T	possibly damaging	Het
Wwc1	T	C	11: 35,844,163 (GRCm38)	M962V	probably benign	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
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
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
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'- GCAGTCTCTAGATGGAATATTTCATGG -3'
(R):5'- AAAGACCTTCTATCCAAGATCTGTG -3'

Sequencing Primer
(F):5'- TCTTGAGTCCAGTTGCAG -3'
(R):5'- ACCTTCTATCCAAGATCTGTGGTATG -3'

Posted On

2020-08-07