Mutagenetix > Incidental Mutation

Incidental Mutation 'R7282:Mgam'

565722

Institutional Source

Beutler Lab

Gene Symbol

Mgam

Ensembl Gene

ENSMUSG00000068587

Gene Name

maltase-glucoamylase

Synonyms

6030407P20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R7282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40605765-40746057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40633446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 251 (N251Y)

Ref Sequence

ENSEMBL: ENSMUSP00000071466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148] [ENSMUST00000202636]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071535
AA Change: N251Y

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: N251Y

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: ENSMUST00000201148
AA Change: N251Y

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: N251Y

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: ENSMUST00000202636
AA Change: N214Y

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144652
Gene: ENSMUSG00000068587
AA Change: N214Y

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	A	11: 58,316,582 (GRCm39)	D187E	probably damaging	Het
Abl2	T	C	1: 156,457,630 (GRCm39)	Y299H	probably damaging	Het
Acsl3	T	A	1: 78,659,709 (GRCm39)	N120K	probably damaging	Het
Aldh1a1	A	G	19: 20,606,434 (GRCm39)	K255R	possibly damaging	Het
Baz2b	C	T	2: 59,750,781 (GRCm39)	R1205H	probably benign	Het
Btbd8	G	T	5: 107,655,062 (GRCm39)	V954L	probably benign	Het
Btbd8	A	G	5: 107,658,371 (GRCm39)	D1647G	probably damaging	Het
Carmil1	A	G	13: 24,197,387 (GRCm39)	S1350P	probably benign	Het
Cecr2	A	T	6: 120,738,582 (GRCm39)	N325I		Het
Cep120	C	T	18: 53,873,161 (GRCm39)	A57T	probably damaging	Het
Chst8	T	C	7: 34,447,628 (GRCm39)		probably null	Het
Cntn4	A	T	6: 106,502,421 (GRCm39)	I393F	probably damaging	Het
Crocc	T	C	4: 140,749,652 (GRCm39)	D1494G	probably damaging	Het
Cwc25	T	C	11: 97,638,832 (GRCm39)	E364G	possibly damaging	Het
Dnah7a	C	A	1: 53,724,059 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,519 (GRCm39)	E5G	probably benign	Het
Ehd4	T	C	2: 119,921,729 (GRCm39)	H509R	probably damaging	Het
Enam	A	T	5: 88,650,186 (GRCm39)	N565I	probably damaging	Het
Evi2a	G	T	11: 79,418,249 (GRCm39)	N120K	probably benign	Het
Faim	A	G	9: 98,874,179 (GRCm39)	T2A	probably benign	Het
Fcgbpl1	A	G	7: 27,843,833 (GRCm39)	N907S	probably benign	Het
Fmnl1	T	C	11: 103,087,091 (GRCm39)	V836A	unknown	Het
Fosb	T	C	7: 19,039,113 (GRCm39)	I224V	possibly damaging	Het
Frem3	A	T	8: 81,338,660 (GRCm39)	T318S	probably damaging	Het
Gm9972	G	A	11: 42,927,631 (GRCm39)	G93R	unknown	Het
Gtf2a1	A	T	12: 91,534,609 (GRCm39)	I215N	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,397 (GRCm39)	V106A	probably benign	Het
Igkv19-93	T	C	6: 68,713,485 (GRCm39)	D48G	probably benign	Het
Itgb8	A	T	12: 119,201,443 (GRCm39)	W31R	probably benign	Het
Kmt2d	A	T	15: 98,751,985 (GRCm39)	W1995R	unknown	Het
Lama3	G	T	18: 12,572,449 (GRCm39)	Q551H	probably damaging	Het
Lama5	T	C	2: 179,843,588 (GRCm39)	Y453C	probably damaging	Het
Lbhd2	G	A	12: 111,376,724 (GRCm39)	R57H	probably damaging	Het
Lcmt2	A	G	2: 120,969,271 (GRCm39)	V384A	probably damaging	Het
Lgsn	T	G	1: 31,242,452 (GRCm39)	L178R	probably damaging	Het
Lhcgr	C	T	17: 89,065,811 (GRCm39)	V193I	probably benign	Het
Lta4h	T	C	10: 93,289,373 (GRCm39)	M1T	probably null	Het
Ly6l	T	C	15: 75,321,345 (GRCm39)	S14P	probably damaging	Het
Met	C	A	6: 17,547,011 (GRCm39)	C881*	probably null	Het
Mettl21e	A	T	1: 44,249,399 (GRCm39)	Y86N	probably damaging	Het
Mmp27	T	A	9: 7,578,231 (GRCm39)	V357D	probably damaging	Het
Muc2	A	G	7: 141,306,481 (GRCm39)	E740G		Het
Myoc	C	A	1: 162,476,413 (GRCm39)	S372R	probably benign	Het
Ncor2	A	T	5: 125,097,104 (GRCm39)	M1358K		Het
Nol6	A	G	4: 41,119,468 (GRCm39)	S613P	probably benign	Het
Nuggc	T	A	14: 65,855,072 (GRCm39)	I334N	probably damaging	Het
Nxnl2	C	T	13: 51,325,542 (GRCm39)	P62S	probably damaging	Het
Ogfod1	C	T	8: 94,764,067 (GRCm39)	H51Y	possibly damaging	Het
Olfml1	T	A	7: 107,189,530 (GRCm39)	D198E	possibly damaging	Het
Or2t26	A	C	11: 49,039,945 (GRCm39)	N287T	probably damaging	Het
Ovch2	C	T	7: 107,393,577 (GRCm39)	R183H	possibly damaging	Het
Plxnd1	A	T	6: 115,937,798 (GRCm39)	L1516Q	probably damaging	Het
Pramel27	A	G	4: 143,578,451 (GRCm39)	N237S	possibly damaging	Het
Prrc2c	A	G	1: 162,507,543 (GRCm39)	V2448A	possibly damaging	Het
Rexo5	C	T	7: 119,417,636 (GRCm39)	T212I	probably damaging	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rnf213	T	G	11: 119,328,818 (GRCm39)	I2030S		Het
Rtf1	C	T	2: 119,505,580 (GRCm39)	A11V	unknown	Het
Setdb1	T	G	3: 95,245,985 (GRCm39)	T647P	probably damaging	Het
Shisa6	G	C	11: 66,393,480 (GRCm39)	P272R	possibly damaging	Het
Slc25a54	G	T	3: 109,023,817 (GRCm39)	G471*	probably null	Het
Slc30a1	A	G	1: 191,641,544 (GRCm39)	T397A	probably benign	Het
Slc7a14	A	G	3: 31,281,302 (GRCm39)	F336S	possibly damaging	Het
Slitrk3	C	T	3: 72,957,798 (GRCm39)	V325I	possibly damaging	Het
Sptan1	A	G	2: 29,876,941 (GRCm39)	Y361C	probably damaging	Het
Stard9	A	G	2: 120,528,984 (GRCm39)	D1747G	probably benign	Het
Taf3	T	C	2: 9,956,253 (GRCm39)	E638G	probably damaging	Het
Tbc1d8	T	C	1: 39,411,614 (GRCm39)	D1074G	probably benign	Het
Tecrl	G	A	5: 83,502,754 (GRCm39)	H32Y	probably benign	Het
Tgm3	T	A	2: 129,866,481 (GRCm39)	M133K	probably benign	Het
Tmem131	A	G	1: 36,880,685 (GRCm39)	F195S	probably damaging	Het
Tmem82	T	C	4: 141,342,261 (GRCm39)	I314V	possibly damaging	Het
Trappc10	T	C	10: 78,043,327 (GRCm39)	E555G	probably damaging	Het
Ubn2	A	T	6: 38,429,811 (GRCm39)	K176*	probably null	Het
Ucp1	G	A	8: 84,020,531 (GRCm39)	G114R	probably benign	Het
Unc5c	A	G	3: 141,383,751 (GRCm39)	D43G	probably damaging	Het
Vmn2r3	C	T	3: 64,168,825 (GRCm39)	V571M	possibly damaging	Het
Vwa3a	A	T	7: 120,385,688 (GRCm39)	I677L	probably benign	Het
Wdr48	T	C	9: 119,740,147 (GRCm39)	S319P	probably damaging	Het

Other mutations in Mgam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGGAGAGTACTGAGTCTTTCTCTC -3'
(R):5'- CCCTTATCACCAGCTTCAAGG -3'

Sequencing Primer
(F):5'- AGAGTACTGAGTCTTTCTCTCCCTAC -3'
(R):5'- CAATTGTAGAACCCCAATGTGG -3'

Posted On

2019-06-26