Mutagenetix > Incidental Mutation

Incidental Mutation 'R8336:Agl'

644608

Institutional Source

Beutler Lab

Gene Symbol

Agl

Ensembl Gene

ENSMUSG00000033400

Gene Name

amylo-1,6-glucosidase, 4-alpha-glucanotransferase

Synonyms

9430004C13Rik, 9630046L06Rik, 1110061O17Rik

MMRRC Submission

067729-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.360) question?

Stock #

R8336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116533648-116601815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116566495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 291 (F291S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040603] [ENSMUST00000159742] [ENSMUST00000161336] [ENSMUST00000162792]

AlphaFold

F8VPN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040603
AA Change: F956S

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: F956S

Domain	Start	End	E-Value	Type
Pfam:hGDE_N	31	116	4.8e-24	PFAM
Pfam:hDGE_amylase	120	550	9.6e-167	PFAM
Pfam:hGDE_central	697	974	2e-90	PFAM
Pfam:GDE_C	1044	1527	8.5e-145	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159742
AA Change: F956S

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: F956S

Domain	Start	End	E-Value	Type
Pfam:hGDE_N	31	116	2.1e-20	PFAM
Pfam:hDGE_amylase	120	550	7.8e-164	PFAM
Pfam:hGDE_central	697	974	6.2e-87	PFAM
Pfam:GDE_C	1043	1279	6.7e-61	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: F291S

Domain	Start	End	E-Value	Type
Pfam:hGDE_central	33	310	2.8e-87	PFAM
Pfam:GDE_C	379	830	1.3e-126	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161336

SMART Domains

Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400

Domain	Start	End	E-Value	Type
Pfam:hGDE_N	30	117	2.1e-29	PFAM
Pfam:hDGE_amylase	120	230	3.7e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162792
AA Change: F956S

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: F956S

Domain	Start	End	E-Value	Type
Pfam:hGDE_N	30	117	4e-28	PFAM
Pfam:hDGE_amylase	120	550	1.4e-167	PFAM
Pfam:hGDE_central	697	975	5.6e-95	PFAM
Pfam:GDE_C	1061	1527	1.1e-137	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
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 the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to hypoglycemia, altered blood biochemistry, severe hepatomegaly, glycogen accumulation in the liver, heart, skeletal muscle and other tissues, motor impairment, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	C	14: 64,223,545 (GRCm39)	K77R	probably benign	Het
Acta1	C	T	8: 124,619,310 (GRCm39)	E261K	possibly damaging	Het
Adamts19	A	T	18: 59,140,444 (GRCm39)	I848L	possibly damaging	Het
Adck1	C	A	12: 88,335,249 (GRCm39)	T45K	probably damaging	Het
BC048671	T	C	6: 90,279,849 (GRCm39)	V24A	probably benign	Het
Brsk2	C	T	7: 141,538,211 (GRCm39)	A119V	probably damaging	Het
Cacnb1	A	G	11: 97,894,119 (GRCm39)	Y468H	probably benign	Het
Cep89	A	T	7: 35,127,141 (GRCm39)	K501*	probably null	Het
Ces2a	T	A	8: 105,465,665 (GRCm39)	F306I	probably damaging	Het
Col6a4	T	A	9: 105,952,528 (GRCm39)	I457F	possibly damaging	Het
Cts7	A	G	13: 61,504,723 (GRCm39)		probably null	Het
Dnah12	C	A	14: 26,432,220 (GRCm39)	T444K	probably benign	Het
Dusp5	T	C	19: 53,529,406 (GRCm39)	S270P	probably damaging	Het
Eppk1	T	TCAC	15: 75,992,152 (GRCm39)		probably null	Het
Esam	T	A	9: 37,448,362 (GRCm39)	I267K	probably benign	Het
Fastkd1	A	G	2: 69,542,489 (GRCm39)	V106A	probably damaging	Het
Fsip2	A	G	2: 82,821,099 (GRCm39)	T5611A	possibly damaging	Het
Gcc2	A	G	10: 58,108,189 (GRCm39)	D933G	probably damaging	Het
Gm16506	T	A	14: 43,964,825 (GRCm39)	H39L		Het
Gm5145	A	T	17: 20,790,687 (GRCm39)	N22Y	probably damaging	Het
Gm6465	A	T	5: 11,896,780 (GRCm39)	R50W	probably damaging	Het
Hivep1	C	A	13: 42,309,405 (GRCm39)	D548E	probably benign	Het
Hnrnpl	C	A	7: 28,513,462 (GRCm39)	S178R	possibly damaging	Het
Hsp90b1	A	G	10: 86,526,968 (GRCm39)	*803Q	probably null	Het
Kdm5a	A	G	6: 120,396,407 (GRCm39)	N1088S	probably benign	Het
Klk1b11	C	T	7: 43,425,865 (GRCm39)		probably benign	Het
Kmt5b	T	C	19: 3,865,531 (GRCm39)	I865T	probably damaging	Het
Map3k10	C	A	7: 27,372,884 (GRCm39)	R189L	probably benign	Het
Nav3	A	G	10: 109,603,430 (GRCm39)	S1040P	probably damaging	Het
Neb	T	C	2: 52,163,902 (GRCm39)	S2019G	probably damaging	Het
Nfrkb	T	C	9: 31,314,815 (GRCm39)	V545A	possibly damaging	Het
Nkd2	G	T	13: 73,969,192 (GRCm39)	P425T	probably damaging	Het
Or5h26	T	C	16: 58,987,918 (GRCm39)	Y196C	possibly damaging	Het
Ostm1	A	G	10: 42,572,334 (GRCm39)	Y239C	probably damaging	Het
Pabpc1l	A	G	2: 163,874,204 (GRCm39)	D203G	probably benign	Het
Pcdhb21	T	A	18: 37,648,942 (GRCm39)	Y690*	probably null	Het
Pla2r1	C	A	2: 60,253,027 (GRCm39)	V1355F	possibly damaging	Het
Pms1	C	T	1: 53,245,985 (GRCm39)	S518N	probably benign	Het
Rab44	A	T	17: 29,367,249 (GRCm39)	*726C	probably null	Het
Rin1	A	T	19: 5,105,013 (GRCm39)	H691L	possibly damaging	Het
Slc30a9	T	A	5: 67,473,058 (GRCm39)	Y47*	probably null	Het
Sp9	T	A	2: 73,104,796 (GRCm39)	V450D	possibly damaging	Het
Sstr3	T	C	15: 78,424,693 (GRCm39)	N18S	probably damaging	Het
Sugct	T	A	13: 17,032,504 (GRCm39)	Y416F	probably benign	Het
Tcf3	T	C	10: 80,257,000 (GRCm39)	T75A	probably benign	Het
Tenm3	A	G	8: 48,746,808 (GRCm39)	V999A	probably damaging	Het
Tfap2c	T	A	2: 172,399,112 (GRCm39)	L453*	probably null	Het
Trip12	A	T	1: 84,743,762 (GRCm39)	M515K	probably benign	Het
Vstm2a	G	A	11: 16,207,801 (GRCm39)		probably benign	Het

Other mutations in Agl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Agl	APN	3	116,565,132 (GRCm39)	missense	probably benign	0.10
IGL00500:Agl	APN	3	116,566,469 (GRCm39)	missense	probably damaging	1.00
IGL00691:Agl	APN	3	116,572,907 (GRCm39)	missense	possibly damaging	0.46
IGL00711:Agl	APN	3	116,587,276 (GRCm39)	missense	probably damaging	1.00
IGL01291:Agl	APN	3	116,566,438 (GRCm39)	missense	possibly damaging	0.49
IGL01641:Agl	APN	3	116,578,104 (GRCm39)	nonsense	probably null
IGL01860:Agl	APN	3	116,566,175 (GRCm39)	splice site	probably benign
IGL01893:Agl	APN	3	116,582,198 (GRCm39)	missense	probably damaging	0.97
IGL02193:Agl	APN	3	116,572,815 (GRCm39)	missense	probably damaging	0.99
IGL02379:Agl	APN	3	116,572,740 (GRCm39)	missense	probably damaging	1.00
IGL02485:Agl	APN	3	116,572,729 (GRCm39)	missense	probably benign
IGL02644:Agl	APN	3	116,580,246 (GRCm39)	missense	probably damaging	1.00
IGL02673:Agl	APN	3	116,575,248 (GRCm39)	missense	probably benign	0.01
IGL02693:Agl	APN	3	116,540,077 (GRCm39)	missense	possibly damaging	0.67
IGL02733:Agl	APN	3	116,574,646 (GRCm39)	missense	probably benign
IGL03089:Agl	APN	3	116,574,672 (GRCm39)	missense	probably damaging	1.00
IGL03271:Agl	APN	3	116,572,776 (GRCm39)	missense	probably benign	0.00
ANU05:Agl	UTSW	3	116,566,438 (GRCm39)	missense	possibly damaging	0.49
PIT4445001:Agl	UTSW	3	116,565,109 (GRCm39)	missense
R0013:Agl	UTSW	3	116,570,257 (GRCm39)	nonsense	probably null
R0013:Agl	UTSW	3	116,570,257 (GRCm39)	nonsense	probably null
R0022:Agl	UTSW	3	116,587,485 (GRCm39)	splice site	probably null
R0092:Agl	UTSW	3	116,587,453 (GRCm39)	missense	probably damaging	1.00
R0226:Agl	UTSW	3	116,545,720 (GRCm39)	missense	probably damaging	1.00
R0440:Agl	UTSW	3	116,552,455 (GRCm39)	missense	probably damaging	1.00
R0488:Agl	UTSW	3	116,548,611 (GRCm39)	nonsense	probably null
R0504:Agl	UTSW	3	116,580,433 (GRCm39)	missense	probably damaging	0.99
R0689:Agl	UTSW	3	116,587,277 (GRCm39)	missense	probably damaging	1.00
R0715:Agl	UTSW	3	116,545,825 (GRCm39)	missense	probably damaging	1.00
R0893:Agl	UTSW	3	116,546,935 (GRCm39)	missense	probably benign	0.04
R1403:Agl	UTSW	3	116,576,246 (GRCm39)	missense	probably benign	0.12
R1403:Agl	UTSW	3	116,576,246 (GRCm39)	missense	probably benign	0.12
R1432:Agl	UTSW	3	116,540,342 (GRCm39)	missense	probably damaging	1.00
R1465:Agl	UTSW	3	116,565,021 (GRCm39)	missense	probably benign	0.35
R1465:Agl	UTSW	3	116,565,021 (GRCm39)	missense	probably benign	0.35
R1540:Agl	UTSW	3	116,574,384 (GRCm39)	missense	probably benign	0.01
R1624:Agl	UTSW	3	116,580,895 (GRCm39)	missense	probably benign	0.30
R1640:Agl	UTSW	3	116,545,739 (GRCm39)	missense	probably benign	0.02
R1834:Agl	UTSW	3	116,582,000 (GRCm39)	missense	probably benign	0.31
R1853:Agl	UTSW	3	116,572,971 (GRCm39)	nonsense	probably null
R2004:Agl	UTSW	3	116,574,914 (GRCm39)	missense	probably damaging	1.00
R2184:Agl	UTSW	3	116,574,426 (GRCm39)	missense	probably benign	0.00
R2227:Agl	UTSW	3	116,581,961 (GRCm39)	missense	possibly damaging	0.78
R3053:Agl	UTSW	3	116,584,682 (GRCm39)	missense	probably damaging	1.00
R4181:Agl	UTSW	3	116,540,279 (GRCm39)	missense	probably damaging	1.00
R4241:Agl	UTSW	3	116,548,497 (GRCm39)	intron	probably benign
R4284:Agl	UTSW	3	116,545,827 (GRCm39)	missense	possibly damaging	0.83
R4285:Agl	UTSW	3	116,545,827 (GRCm39)	missense	possibly damaging	0.83
R4302:Agl	UTSW	3	116,540,279 (GRCm39)	missense	probably damaging	1.00
R4791:Agl	UTSW	3	116,580,177 (GRCm39)	critical splice donor site	probably null
R4854:Agl	UTSW	3	116,572,267 (GRCm39)	critical splice donor site	probably null
R4968:Agl	UTSW	3	116,582,175 (GRCm39)	missense	probably benign	0.31
R5075:Agl	UTSW	3	116,587,456 (GRCm39)	missense	probably damaging	1.00
R5219:Agl	UTSW	3	116,572,370 (GRCm39)	missense	possibly damaging	0.81
R5274:Agl	UTSW	3	116,566,135 (GRCm39)	missense	probably damaging	1.00
R5347:Agl	UTSW	3	116,584,814 (GRCm39)	missense	probably damaging	1.00
R5399:Agl	UTSW	3	116,575,277 (GRCm39)	missense	probably damaging	1.00
R5511:Agl	UTSW	3	116,582,209 (GRCm39)	missense	possibly damaging	0.81
R5763:Agl	UTSW	3	116,547,009 (GRCm39)	missense	probably damaging	1.00
R5827:Agl	UTSW	3	116,574,703 (GRCm39)	missense	probably damaging	1.00
R5964:Agl	UTSW	3	116,587,423 (GRCm39)	missense	probably damaging	1.00
R5967:Agl	UTSW	3	116,587,357 (GRCm39)	missense	probably benign	0.06
R5986:Agl	UTSW	3	116,566,145 (GRCm39)	missense	probably damaging	1.00
R6127:Agl	UTSW	3	116,551,978 (GRCm39)	missense	probably damaging	1.00
R6209:Agl	UTSW	3	116,578,845 (GRCm39)	nonsense	probably null
R6252:Agl	UTSW	3	116,580,878 (GRCm39)	critical splice donor site	probably null
R6337:Agl	UTSW	3	116,580,426 (GRCm39)	missense	possibly damaging	0.65
R6366:Agl	UTSW	3	116,584,766 (GRCm39)	missense	probably damaging	1.00
R6441:Agl	UTSW	3	116,565,108 (GRCm39)	missense	probably benign	0.21
R6647:Agl	UTSW	3	116,544,060 (GRCm39)	missense	probably damaging	1.00
R6678:Agl	UTSW	3	116,546,969 (GRCm39)	missense	probably damaging	0.99
R6736:Agl	UTSW	3	116,575,329 (GRCm39)	missense	probably damaging	0.98
R7141:Agl	UTSW	3	116,546,935 (GRCm39)	missense	probably benign	0.04
R7143:Agl	UTSW	3	116,585,670 (GRCm39)	missense	probably damaging	0.99
R7204:Agl	UTSW	3	116,587,469 (GRCm39)	missense	probably benign	0.04
R7259:Agl	UTSW	3	116,578,230 (GRCm39)	missense	probably damaging	1.00
R7393:Agl	UTSW	3	116,584,805 (GRCm39)	missense	probably benign
R7426:Agl	UTSW	3	116,552,404 (GRCm39)	missense
R7559:Agl	UTSW	3	116,545,764 (GRCm39)	missense
R7587:Agl	UTSW	3	116,585,736 (GRCm39)	missense	probably damaging	1.00
R7609:Agl	UTSW	3	116,600,928 (GRCm39)	missense	possibly damaging	0.93
R7657:Agl	UTSW	3	116,572,812 (GRCm39)	missense
R7715:Agl	UTSW	3	116,551,905 (GRCm39)	missense
R7735:Agl	UTSW	3	116,578,795 (GRCm39)	missense	probably benign	0.21
R7770:Agl	UTSW	3	116,551,886 (GRCm39)	critical splice donor site	probably null
R7980:Agl	UTSW	3	116,585,830 (GRCm39)	missense	probably benign	0.08
R8186:Agl	UTSW	3	116,552,557 (GRCm39)	missense	possibly damaging	0.92
R8215:Agl	UTSW	3	116,582,293 (GRCm39)	missense	probably damaging	1.00
R8709:Agl	UTSW	3	116,566,121 (GRCm39)	missense
R9545:Agl	UTSW	3	116,582,338 (GRCm39)	missense	possibly damaging	0.96
X0065:Agl	UTSW	3	116,574,979 (GRCm39)	nonsense	probably null
Z1177:Agl	UTSW	3	116,574,685 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AAACTGGCCTGAGGAAGCTG -3'
(R):5'- GTAGGCACCCTGACAGTTTTC -3'

Sequencing Primer
(F):5'- CCTGAGGAAGCTGTGACTTATCTAC -3'
(R):5'- TGCTAAGTGCCACTGTGAAC -3'

Posted On

2020-09-02