Mutagenetix > Incidental Mutation

Incidental Mutation 'R4027:Mgam'

313028

Institutional Source

Beutler Lab

Gene Symbol

Mgam

Ensembl Gene

ENSMUSG00000068587

Gene Name

maltase-glucoamylase

Synonyms

6030407P20Rik

MMRRC Submission

040850-MU

Accession Numbers

Essential gene?

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

Stock #

R4027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40605765-40746057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40731836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1351 (R1351Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143946 (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: R1351Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: R1351Q

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: R1351Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: R1351Q

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

noncoding transcript
Transcript: ENSMUST00000202311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202775

Predicted Effect

probably damaging
Transcript: ENSMUST00000202779
AA Change: R724Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144627
Gene: ENSMUSG00000068587
AA Change: R724Q

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

probably damaging
Transcript: ENSMUST00000202966
AA Change: R605Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: R605Q

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

Meta Mutation Damage Score

0.2055

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

97% (60/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	G	2: 35,270,408 (GRCm39)	F98L	probably damaging	Het
Adam26b	T	C	8: 43,973,409 (GRCm39)	N531S	probably benign	Het
Ahdc1	T	C	4: 132,791,476 (GRCm39)	S906P	possibly damaging	Het
Ank	A	G	15: 27,544,343 (GRCm39)	N35D	probably damaging	Het
Ano10	A	G	9: 122,081,994 (GRCm39)		probably benign	Het
Atp4a	T	C	7: 30,424,377 (GRCm39)		probably null	Het
C030005K15Rik	T	C	10: 97,561,404 (GRCm39)	Y109C	unknown	Het
Carmil1	T	A	13: 24,251,206 (GRCm39)		probably benign	Het
Ccl2	A	G	11: 81,927,885 (GRCm39)	R110G	probably benign	Het
Cntnap2	C	A	6: 46,833,062 (GRCm39)	F758L	probably benign	Het
Cog6	A	C	3: 52,909,950 (GRCm39)	D267E	possibly damaging	Het
Cyp4f37	G	T	17: 32,850,646 (GRCm39)	E366D	probably benign	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Dpep1	T	C	8: 123,920,892 (GRCm39)	V24A	probably benign	Het
Eefsec	T	C	6: 88,353,232 (GRCm39)	I48V	probably benign	Het
Elmo2	G	A	2: 165,136,169 (GRCm39)	Q195*	probably null	Het
Ephb3	A	G	16: 21,040,447 (GRCm39)	D561G	probably damaging	Het
Erich2	C	A	2: 70,343,134 (GRCm39)		probably benign	Het
Gatm	A	G	2: 122,427,927 (GRCm39)	V362A	probably damaging	Het
Gdf10	A	G	14: 33,654,572 (GRCm39)	M360V	probably damaging	Het
Gpr141	T	C	13: 19,935,995 (GRCm39)	N260S	probably benign	Het
Hectd1	T	A	12: 51,849,219 (GRCm39)		probably null	Het
Insrr	A	G	3: 87,716,906 (GRCm39)	E682G	probably benign	Het
Itgax	A	G	7: 127,740,438 (GRCm39)	I742V	possibly damaging	Het
Kcnh1	T	C	1: 191,959,007 (GRCm39)	V187A	probably benign	Het
Kdm6b	G	T	11: 69,297,094 (GRCm39)	S419R	possibly damaging	Het
Kmt2a	A	T	9: 44,747,990 (GRCm39)		probably benign	Het
Krt10	A	G	11: 99,277,019 (GRCm39)		probably benign	Het
Lct	G	A	1: 128,212,918 (GRCm39)	R1912C	probably benign	Het
Lefty1	T	C	1: 180,765,346 (GRCm39)	S305P	probably benign	Het
Mast3	A	G	8: 71,240,552 (GRCm39)	L279P	probably damaging	Het
Mfsd4b3-ps	T	C	10: 39,823,343 (GRCm39)	T306A	probably benign	Het
Mknk1	T	A	4: 115,721,758 (GRCm39)	F101I	probably damaging	Het
Mlc1	T	C	15: 88,850,697 (GRCm39)	I154V	probably benign	Het
Myo5b	T	C	18: 74,892,311 (GRCm39)	I1685T	possibly damaging	Het
Nacc2	T	A	2: 25,950,348 (GRCm39)	M463L	probably benign	Het
Nek11	A	C	9: 105,121,589 (GRCm39)	Y443*	probably null	Het
Nme4	T	C	17: 26,313,196 (GRCm39)		probably null	Het
Nova1	A	G	12: 46,863,801 (GRCm39)		probably benign	Het
Or52h9	A	T	7: 104,202,530 (GRCm39)	I135F	possibly damaging	Het
Parp10	A	G	15: 76,125,354 (GRCm39)		probably null	Het
Pkd1l3	T	A	8: 110,350,603 (GRCm39)	S483T	possibly damaging	Het
Plce1	T	C	19: 38,512,709 (GRCm39)	S3P	probably damaging	Het
Pnldc1	T	C	17: 13,109,666 (GRCm39)	D400G	probably benign	Het
Polr2b	G	A	5: 77,496,252 (GRCm39)	R1141H	possibly damaging	Het
Prmt6	A	G	3: 110,157,257 (GRCm39)	I344T	probably damaging	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Ranbp17	C	T	11: 33,450,718 (GRCm39)	R73Q	possibly damaging	Het
Rcn1	G	T	2: 105,229,395 (GRCm39)	Y52*	probably null	Het
Reck	T	C	4: 43,922,931 (GRCm39)	I402T	probably damaging	Het
Tecpr1	C	A	5: 144,143,077 (GRCm39)	A735S	probably benign	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ube4a	G	A	9: 44,861,198 (GRCm39)		probably benign	Het
Vldlr	A	G	19: 27,215,713 (GRCm39)	T237A	probably benign	Het
Vmn1r74	C	A	7: 11,580,898 (GRCm39)	T66K	probably damaging	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Zmym1	C	T	4: 126,943,672 (GRCm39)	V239I	probably benign	Het
Zmym5	T	A	14: 57,035,268 (GRCm39)	T267S	probably benign	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
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'- AGTGCGTTCAGAGTGTTGAC -3'
(R):5'- ATTAGCATCCTCCAGACTGTAC -3'

Sequencing Primer
(F):5'- AAAGAAGGTATGTGGTTTATGCTC -3'
(R):5'- GCATCCTCCAGACTGTACTAAAAAC -3'

Posted On

2015-04-30