Mutagenetix > Incidental Mutation

Incidental Mutation 'R6441:Agl'

519004

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

044579-MU

Accession Numbers

Essential gene?

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

Stock #

R6441 (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 T at 116565108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1047 (M1047K)

Ref Sequence

ENSEMBL: ENSMUSP00000143582 (fasta)

Gene Model

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

AlphaFold

F8VPN4

Predicted Effect

probably benign
Transcript: ENSMUST00000040603
AA Change: M1047K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: M1047K

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

probably benign
Transcript: ENSMUST00000159742
AA Change: M1047K

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: M1047K

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

unknown
Transcript: ENSMUST00000160484
AA Change: M382K

SMART Domains

Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: M382K

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

probably benign
Transcript: ENSMUST00000162792
AA Change: M1047K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: M1047K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	A	T	12: 8,037,796 (GRCm39)	D322V	probably damaging	Het
Capn12	T	A	7: 28,587,427 (GRCm39)	C438S	probably benign	Het
Cdh23	A	T	10: 60,143,815 (GRCm39)	V2932E	probably damaging	Het
Cdh9	A	T	15: 16,823,509 (GRCm39)	T164S	probably benign	Het
Cimap1a	T	C	7: 140,429,161 (GRCm39)	S149P	probably damaging	Het
CN725425	T	C	15: 91,120,005 (GRCm39)	V42A	probably benign	Het
Cpb1	T	C	3: 20,303,978 (GRCm39)	D362G	probably damaging	Het
Csmd2	C	A	4: 128,288,757 (GRCm39)	Q1099K	probably benign	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Galnt4	A	G	10: 98,945,960 (GRCm39)	M562V	possibly damaging	Het
Gtf3c3	T	A	1: 54,445,197 (GRCm39)	E619V	probably benign	Het
Gucy2c	A	T	6: 136,700,759 (GRCm39)	M585K	probably damaging	Het
Hmcn1	A	G	1: 150,578,967 (GRCm39)	I1993T	possibly damaging	Het
Lonrf2	T	C	1: 38,857,204 (GRCm39)	E44G	possibly damaging	Het
Lrit3	A	T	3: 129,594,009 (GRCm39)	F189L	probably benign	Het
Mag	T	C	7: 30,606,508 (GRCm39)	N310D	possibly damaging	Het
Mccc2	T	C	13: 100,091,184 (GRCm39)	T151A	probably damaging	Het
Mybpc1	A	T	10: 88,389,139 (GRCm39)	S49T	probably benign	Het
Myh2	A	G	11: 67,085,437 (GRCm39)	E1787G	probably benign	Het
Ncapd3	A	G	9: 26,974,712 (GRCm39)	D728G	probably benign	Het
Nup37	A	G	10: 87,996,799 (GRCm39)	E139G	probably benign	Het
Or52h9	C	T	7: 104,202,542 (GRCm39)	Q139*	probably null	Het
Pcdhgb5	A	G	18: 37,865,138 (GRCm39)	Y311C	probably damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Rbm44	A	T	1: 91,084,799 (GRCm39)	N674Y	probably damaging	Het
Ryr1	T	C	7: 28,759,120 (GRCm39)	I3353V	possibly damaging	Het
Sema3c	C	T	5: 17,929,130 (GRCm39)	T588I	possibly damaging	Het
Sh2d5	A	T	4: 137,986,393 (GRCm39)	E372V	possibly damaging	Het
Slc27a6	C	T	18: 58,705,130 (GRCm39)	P171S	probably benign	Het
Slfn3	C	T	11: 83,105,740 (GRCm39)	T579I	probably benign	Het
Svil	T	G	18: 5,049,323 (GRCm39)	V287G	probably benign	Het
Tas1r2	T	A	4: 139,396,467 (GRCm39)	V602D	probably damaging	Het
Tln2	A	G	9: 67,179,971 (GRCm39)	L800P	probably damaging	Het
Trim31	C	A	17: 37,218,683 (GRCm39)	Q323K	possibly damaging	Het
Txndc9	T	A	1: 38,029,299 (GRCm39)	D183V	possibly damaging	Het
Vmn2r28	T	A	7: 5,491,474 (GRCm39)	M258L	probably benign	Het
Vmn2r75	A	T	7: 85,820,784 (GRCm39)	I50N	probably damaging	Het
Zgrf1	A	T	3: 127,381,683 (GRCm39)	N1161Y	possibly damaging	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
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
R8336:Agl	UTSW	3	116,566,495 (GRCm39)	missense
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'- ATTACAGCTGTTCCCACCTG -3'
(R):5'- TCTAGCAAGCATACGGCCTG -3'

Sequencing Primer
(F):5'- TGACCTCTGACCTCCACCAG -3'
(R):5'- TCTGTAATGGGACCCAATGC -3'

Posted On

2018-05-24