Mutagenetix > Incidental Mutation

Incidental Mutation 'R6127:Agl'

487434

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

044274-MU

Accession Numbers

Essential gene?

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

Stock #

R6127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116533648-116601815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116551978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1204 (I1204F)

Ref Sequence

ENSEMBL: ENSMUSP00000124149 (fasta)

Gene Model

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

AlphaFold

F8VPN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000040603
AA Change: I1204F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: I1204F

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 damaging
Transcript: ENSMUST00000159742
AA Change: I1204F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: I1204F

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: I539F

SMART Domains

Protein: ENSMUSP00000123985
Gene: ENSMUSG00000033400
AA Change: I539F

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 damaging
Transcript: ENSMUST00000162792
AA Change: I1204F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: I1204F

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (49/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	A	G	2: 154,391,509 (GRCm39)	E92G	probably damaging	Het
4931429L15Rik	T	A	9: 46,220,220 (GRCm39)	D104V	probably damaging	Het
Actl9	T	C	17: 33,652,354 (GRCm39)	V138A	probably benign	Het
Akna	G	T	4: 63,286,356 (GRCm39)	T1381N	possibly damaging	Het
Atm	A	C	9: 53,435,809 (GRCm39)	L167W	probably damaging	Het
Atp2b2	C	T	6: 113,790,838 (GRCm39)	E189K	probably damaging	Het
Bend7	A	G	2: 4,768,088 (GRCm39)	D348G	probably damaging	Het
Cactin	G	A	10: 81,160,143 (GRCm39)	R412H	possibly damaging	Het
Carmil1	T	C	13: 24,220,335 (GRCm39)	T726A	probably benign	Het
Csmd3	T	A	15: 47,513,624 (GRCm39)	I2829F	probably damaging	Het
Ddx50	A	T	10: 62,457,342 (GRCm39)		probably null	Het
Epha5	T	G	5: 84,218,953 (GRCm39)	K937N	probably damaging	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Fuca1	T	A	4: 135,662,122 (GRCm39)	I350N	probably damaging	Het
Hagh	G	T	17: 25,079,978 (GRCm39)	M152I	probably damaging	Het
Hexd	T	C	11: 121,107,825 (GRCm39)	V185A	possibly damaging	Het
Ireb2	A	G	9: 54,789,652 (GRCm39)	T109A	probably benign	Het
Kcnh2	A	G	5: 24,530,001 (GRCm39)	Y702H	probably damaging	Het
Leng1	G	A	7: 3,665,866 (GRCm39)	P157L	probably damaging	Het
Maea	C	T	5: 33,492,862 (GRCm39)		probably benign	Het
Mertk	G	T	2: 128,580,211 (GRCm39)	V222F	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Muc13	G	A	16: 33,619,317 (GRCm39)	A22T	unknown	Het
Muc16	T	A	9: 18,569,174 (GRCm39)	H1115L	unknown	Het
Or2y1d	C	A	11: 49,321,633 (GRCm39)	T110K	probably damaging	Het
Or5ae2	T	A	7: 84,506,410 (GRCm39)	L278M	probably damaging	Het
Or5l13	T	A	2: 87,779,705 (GRCm39)	S291C	probably damaging	Het
Or6c69	A	G	10: 129,747,284 (GRCm39)	Y288H	probably damaging	Het
Pak5	G	A	2: 135,929,326 (GRCm39)	P619L	probably damaging	Het
Pcdh17	A	G	14: 84,770,500 (GRCm39)	K993E	probably damaging	Het
Pcdhga3	A	T	18: 37,807,757 (GRCm39)	Q70L	probably damaging	Het
Pcdhgb5	C	A	18: 37,865,932 (GRCm39)	R576S	probably damaging	Het
Pold1	T	C	7: 44,191,545 (GRCm39)	Y147C	probably damaging	Het
Prag1	T	C	8: 36,614,555 (GRCm39)	L1369P	unknown	Het
Psg29	T	A	7: 16,945,671 (GRCm39)	F414I	probably benign	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Rp1	C	A	1: 4,419,534 (GRCm39)	S526I	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Setd7	G	A	3: 51,437,502 (GRCm39)	T251I	probably damaging	Het
Slc25a41	T	A	17: 57,341,914 (GRCm39)	Y145F	probably damaging	Het
Stag1	T	C	9: 100,833,750 (GRCm39)	V1121A	probably benign	Het
Svip	T	C	7: 51,653,201 (GRCm39)	T38A	probably benign	Het
Tacc2	A	T	7: 130,227,845 (GRCm39)	H1510L	possibly damaging	Het
Trav19	A	G	14: 54,082,999 (GRCm39)	T25A	probably benign	Het
Trip4	A	T	9: 65,773,752 (GRCm39)		probably null	Het
Tulp1	T	A	17: 28,575,124 (GRCm39)	H447L	probably benign	Het
Vmn1r200	A	T	13: 22,579,373 (GRCm39)	T59S	probably benign	Het
Vmn2r51	A	T	7: 9,839,558 (GRCm39)	L10H	probably damaging	Het
Wee2	T	C	6: 40,426,701 (GRCm39)	Y157H	probably damaging	Het
Xrn1	T	C	9: 95,851,542 (GRCm39)	S187P	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
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
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'- TGCCTTCTCAGGGAAAGCTTC -3'
(R):5'- ACAGAGATAAGACTTGCTGTTCGC -3'

Sequencing Primer
(F):5'- CTCAGGGAAAGCTTCAAGTTTTGC -3'
(R):5'- TCGCTTAAACCCAGAGTGTG -3'

Posted On

2017-10-10