Mutagenetix > Incidental Mutation

Incidental Mutation 'R6366:Agl'

512676

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

044516-MU

Accession Numbers

Essential gene?

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

Stock #

R6366 (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 116584766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 185 (F185L)

Ref Sequence

ENSEMBL: ENSMUSP00000123877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040603] [ENSMUST00000159670] [ENSMUST00000159742] [ENSMUST00000161336] [ENSMUST00000162792]

AlphaFold

F8VPN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040603
AA Change: F185L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044012
Gene: ENSMUSG00000033400
AA Change: F185L

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: ENSMUST00000159670

SMART Domains

Protein: ENSMUSP00000124840
Gene: ENSMUSG00000033400

Domain	Start	End	E-Value	Type
Pfam:hGDE_N	30	117	7.9e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159742
AA Change: F185L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143582
Gene: ENSMUSG00000033400
AA Change: F185L

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

probably damaging
Transcript: ENSMUST00000161336
AA Change: F185L

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

SMART Domains

Protein: ENSMUSP00000123877
Gene: ENSMUSG00000033400
AA Change: F185L

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

noncoding transcript
Transcript: ENSMUST00000162040

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162792
AA Change: F185L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124149
Gene: ENSMUSG00000033400
AA Change: F185L

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

0.3027

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.0%
20x: 93.4%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,835,188 (GRCm39)	D131G	probably damaging	Het
Boc	T	C	16: 44,308,015 (GRCm39)	K947E	probably benign	Het
Ccdc110	A	G	8: 46,396,425 (GRCm39)	E772G	probably damaging	Het
Ccdc7a	A	G	8: 129,582,473 (GRCm39)	V1055A	unknown	Het
Chd1l	A	G	3: 97,501,476 (GRCm39)	V190A	probably benign	Het
Chl1	C	A	6: 103,706,197 (GRCm39)	N396K	possibly damaging	Het
CN725425	T	G	15: 91,131,124 (GRCm39)	Y420D	possibly damaging	Het
Col6a1	A	T	10: 76,546,804 (GRCm39)	I806N	unknown	Het
Csmd2	A	G	4: 128,377,245 (GRCm39)	K2042E	probably benign	Het
Eif4a1	G	T	11: 69,561,781 (GRCm39)	D15E	probably benign	Het
Etfb	T	C	7: 43,102,365 (GRCm39)	L119S	probably damaging	Het
Fbxo42	T	A	4: 140,927,260 (GRCm39)	S513R	probably benign	Het
Gys2	C	A	6: 142,409,120 (GRCm39)	C45F	probably benign	Het
Hspa1a	G	A	17: 35,189,500 (GRCm39)	P468S	probably damaging	Het
Kdm2a	G	T	19: 4,374,960 (GRCm39)	Q724K	probably benign	Het
Lama3	G	T	18: 12,615,194 (GRCm39)	G1373W	probably damaging	Het
Lhx1	A	T	11: 84,413,034 (GRCm39)	F84Y	probably damaging	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrc7	T	C	3: 157,841,012 (GRCm39)	Q1389R	probably benign	Het
Lrtm2	T	C	6: 119,294,238 (GRCm39)	R298G	probably damaging	Het
Ltv1	A	G	10: 13,056,739 (GRCm39)	V268A	probably benign	Het
Mgat4d	T	A	8: 84,095,580 (GRCm39)		probably null	Het
Mknk2	C	A	10: 80,507,767 (GRCm39)	R33L	probably damaging	Het
Ms4a1	A	G	19: 11,236,062 (GRCm39)	S42P	probably damaging	Het
Muc16	T	C	9: 18,557,340 (GRCm39)	I2984M	unknown	Het
Mup12	A	C	4: 60,696,657 (GRCm39)	F74V	probably damaging	Het
Nacad	A	C	11: 6,551,196 (GRCm39)	L665R	probably benign	Het
Pde6a	T	A	18: 61,398,142 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,471,429 (GRCm39)	N579D	possibly damaging	Het
Podn	T	A	4: 107,876,001 (GRCm39)	I552F	possibly damaging	Het
Potefam1	A	G	2: 110,999,937 (GRCm39)		probably null	Het
Pramel32	T	A	4: 88,547,102 (GRCm39)	I106F	probably damaging	Het
Prl3b1	A	T	13: 27,427,875 (GRCm39)	M62L	probably benign	Het
Ptpn13	G	T	5: 103,698,919 (GRCm39)	R1134L	probably damaging	Het
Rpl37	T	A	15: 5,147,990 (GRCm39)		probably null	Het
Samd4	T	A	14: 47,311,607 (GRCm39)		probably null	Het
Sh3rf2	T	C	18: 42,286,130 (GRCm39)	V541A	probably benign	Het
Shcbp1	A	G	8: 4,799,380 (GRCm39)	V335A	probably damaging	Het
Slc7a7	T	C	14: 54,612,057 (GRCm39)	Y282C	probably damaging	Het
Spag7	T	C	11: 70,555,418 (GRCm39)	K125E	possibly damaging	Het
Spata31e4	T	C	13: 50,855,972 (GRCm39)	Y537H	probably benign	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Stab1	T	C	14: 30,863,395 (GRCm39)	K2097R	probably benign	Het
Stk38	A	G	17: 29,193,338 (GRCm39)	W364R	probably benign	Het
Tectb	G	A	19: 55,170,350 (GRCm39)	G67D	probably damaging	Het
Ttll9	G	T	2: 152,833,525 (GRCm39)	D208Y	probably damaging	Het
Tyro3	G	A	2: 119,647,156 (GRCm39)	D758N	probably damaging	Het
Tyw1	T	C	5: 130,310,792 (GRCm39)		probably benign	Het
Unc5b	C	T	10: 60,614,091 (GRCm39)	A253T	probably benign	Het
Wtap	A	T	17: 13,186,945 (GRCm39)		probably null	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
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'- AGGTCCAGTCATCAGTTCCTCAC -3'
(R):5'- ACTGTTGAGAAGTCCCGGAG -3'

Sequencing Primer
(F):5'- AGTCATCAGTTCCTCACACTAC -3'
(R):5'- GTCCCGGAGAAAGTACTGTTTATAC -3'

Posted On

2018-04-27