Mutagenetix > Incidental Mutation

Incidental Mutation 'R6423:Mgam'

518237

Institutional Source

Beutler Lab

Gene Symbol

Mgam

Ensembl Gene

ENSMUSG00000068587

Gene Name

maltase-glucoamylase

Synonyms

6030407P20Rik

MMRRC Submission

044386-MU

Accession Numbers

Essential gene?

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

Stock #

R6423 (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 G at 40653979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 844 (Y844C)

Ref Sequence

ENSEMBL: ENSMUSP00000143946 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071535
AA Change: Y844C

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: Y844C

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: Y844C

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: Y844C

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: ENSMUST00000202966
AA Change: Y98C

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144680
Gene: ENSMUSG00000068587
AA Change: Y98C

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,778 (GRCm39)	M2842L	probably benign	Het
Actl7b	T	C	4: 56,741,213 (GRCm39)	I48M	probably benign	Het
Adgrb1	G	T	15: 74,459,992 (GRCm39)		probably null	Het
Arhgap10	G	T	8: 78,244,386 (GRCm39)	S9R	probably damaging	Het
Bcl11b	T	C	12: 107,881,678 (GRCm39)	E807G	possibly damaging	Het
Chia1	A	G	3: 106,036,304 (GRCm39)	T295A	possibly damaging	Het
Cnrip1	T	C	11: 17,002,350 (GRCm39)		probably null	Het
Ets1	A	G	9: 32,649,611 (GRCm39)	K316R	probably damaging	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Flnc	G	A	6: 29,445,155 (GRCm39)		probably null	Het
Foxf1	G	A	8: 121,811,834 (GRCm39)	G233R	possibly damaging	Het
H2-DMa	A	G	17: 34,356,170 (GRCm39)	I57M	probably benign	Het
Insr	C	T	8: 3,223,566 (GRCm39)	V856I	probably benign	Het
Iqub	T	C	6: 24,491,528 (GRCm39)	D386G	probably damaging	Het
Kcna3	C	A	3: 106,944,158 (GRCm39)	Y140*	probably null	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Nbeal2	T	C	9: 110,455,062 (GRCm39)	Q2605R	probably damaging	Het
Ncor2	A	G	5: 125,164,966 (GRCm39)	I316T	unknown	Het
Nell2	A	T	15: 95,425,163 (GRCm39)	F63Y	probably damaging	Het
Or11l3	T	C	11: 58,516,189 (GRCm39)	I228V	probably damaging	Het
Qrfprl	A	G	6: 65,433,077 (GRCm39)	N299S	probably benign	Het
Zfp386	A	G	12: 116,023,733 (GRCm39)	I449V	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
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'- TCCGCAGACAGGTTGAAGTG -3'
(R):5'- CCCTTACAATAGTAGCTGATTTGC -3'

Sequencing Primer
(F):5'- GGAACTAGGATCTGACTCTCATCTG -3'
(R):5'- TGCCTCTTATTGATTACAAAGCTG -3'

Posted On

2018-05-24