Mutagenetix > Incidental Mutation

Incidental Mutation 'R9093:Gyg1'

691117

Institutional Source

Beutler Lab

Gene Symbol

Gyg1

Ensembl Gene

ENSMUSG00000019528

Gene Name

glycogenin 1

Synonyms

Gyg

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20176248-20209228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20176901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 363 (D363V)

Ref Sequence

ENSEMBL: ENSMUSP00000114019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002502] [ENSMUST00000118015] [ENSMUST00000145853] [ENSMUST00000178328]

AlphaFold

Q9R062

Predicted Effect

probably benign
Transcript: ENSMUST00000002502

SMART Domains

Protein: ENSMUSP00000002502
Gene: ENSMUSG00000002428

Domain	Start	End	E-Value	Type
HIRAN	60	154	3.78e-29	SMART
DEXDc	236	608	1.26e-32	SMART
RING	754	794	4.41e-6	SMART
low complexity region	814	828	N/A	INTRINSIC
HELICc	859	944	2.24e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118015
AA Change: D363V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114019
Gene: ENSMUSG00000019528
AA Change: D363V

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_8	50	163	1.7e-9	PFAM
Pfam:Glyco_transf_8	160	268	1.6e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145853

SMART Domains

Protein: ENSMUSP00000118775
Gene: ENSMUSG00000002428

Domain	Start	End	E-Value	Type
HIRAN	1	92	2.7e-25	SMART
DEXDc	174	548	2.36e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178328
AA Change: D319V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136035
Gene: ENSMUSG00000019528
AA Change: D319V

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_8	6	224	2.7e-46	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,513 (GRCm39)	V1294E	probably damaging	Het
Ada	C	T	2: 163,577,308 (GRCm39)	G60D	probably benign	Het
Aff3	G	T	1: 38,291,738 (GRCm39)	R390S	possibly damaging	Het
Aldh3b3	T	A	19: 4,013,959 (GRCm39)	N53K	possibly damaging	Het
Ankrd36	G	A	11: 5,589,132 (GRCm39)	M410I	probably benign	Het
Ap2b1	T	A	11: 83,215,395 (GRCm39)	I113N	probably damaging	Het
Art5	G	T	7: 101,747,396 (GRCm39)	H128N	probably benign	Het
Calhm2	A	C	19: 47,121,599 (GRCm39)	L190R	probably benign	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Cdh18	A	T	15: 23,474,064 (GRCm39)	I645F	probably damaging	Het
Cenpe	C	T	3: 134,945,641 (GRCm39)	Q1052*	probably null	Het
Cfap221	G	T	1: 119,863,856 (GRCm39)	Q563K	probably damaging	Het
Cfap54	T	A	10: 92,651,770 (GRCm39)	E3093D	probably benign	Het
Chd4	A	G	6: 125,090,974 (GRCm39)	M1186V	probably benign	Het
Chst15	A	T	7: 131,870,646 (GRCm39)		probably null	Het
Clca3a2	T	C	3: 144,781,481 (GRCm39)	T688A	probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,495,173 (GRCm39)	N518K	probably damaging	Het
E230025N22Rik	G	T	18: 36,821,952 (GRCm39)	L247I	possibly damaging	Het
Eno4	A	T	19: 58,941,600 (GRCm39)	K174*	probably null	Het
Enpp3	G	A	10: 24,671,702 (GRCm39)	P431S	probably benign	Het
Fbh1	T	A	2: 11,764,801 (GRCm39)	Q444H	probably damaging	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fbxw14	A	G	9: 109,105,250 (GRCm39)	I305T	probably benign	Het
Fhip1b	T	A	7: 105,034,599 (GRCm39)	T408S	probably damaging	Het
Gas2	T	A	7: 51,602,969 (GRCm39)	C216S	probably damaging	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,220,458 (GRCm39)		probably null	Het
Glp2r	T	A	11: 67,621,459 (GRCm39)	R344*	probably null	Het
Gm17430	A	G	18: 9,726,640 (GRCm39)	Y11H	probably damaging	Het
H2bc18	G	A	3: 96,177,290 (GRCm39)	A75T	probably benign	Het
Hectd4	A	G	5: 121,411,677 (GRCm39)	N451S	probably benign	Het
Hif1a	T	C	12: 73,979,111 (GRCm39)	Y212H	probably benign	Het
Hoxd11	A	T	2: 74,514,482 (GRCm39)	*337C	probably null	Het
Kif24	A	G	4: 41,428,691 (GRCm39)	F90L	probably benign	Het
Klhl20	A	T	1: 160,923,231 (GRCm39)	C497*	probably null	Het
Loxl1	C	A	9: 58,219,224 (GRCm39)	A316S	probably benign	Het
Lrig3	C	T	10: 125,845,950 (GRCm39)	P793L	possibly damaging	Het
Macc1	A	G	12: 119,410,561 (GRCm39)	D443G	probably benign	Het
Maip1	A	T	1: 57,446,311 (GRCm39)	Y127F	possibly damaging	Het
Mrm2	A	T	5: 140,314,427 (GRCm39)	F136Y	probably benign	Het
Nasp	G	T	4: 116,468,017 (GRCm39)	L323I	probably benign	Het
Ndufb8	A	T	19: 44,538,823 (GRCm39)	L166Q	probably damaging	Het
Nid2	C	T	14: 19,858,009 (GRCm39)	T1274I		Het
Nup210	T	A	6: 91,066,872 (GRCm39)	T160S	probably benign	Het
Nutm2	A	G	13: 50,628,964 (GRCm39)	K676R	probably damaging	Het
Odad1	G	A	7: 45,596,965 (GRCm39)	V431I	possibly damaging	Het
Or10a3n	T	C	7: 108,493,609 (GRCm39)	R7G	probably benign	Het
Or2a20	A	G	6: 43,194,500 (GRCm39)	T218A	probably benign	Het
Or56b1b	A	T	7: 108,164,454 (GRCm39)	C183S	probably damaging	Het
Or5ak20	T	A	2: 85,183,852 (GRCm39)	R139S	probably benign	Het
Or7g33	A	G	9: 19,448,914 (GRCm39)	V104A	probably benign	Het
Or8b9	A	T	9: 37,766,294 (GRCm39)	Y60F	probably damaging	Het
Or9m1	A	T	2: 87,733,480 (GRCm39)	I180N	probably benign	Het
Pcdhga12	C	A	18: 37,899,931 (GRCm39)	N254K	possibly damaging	Het
Pm20d1	G	T	1: 131,743,753 (GRCm39)	V473F	probably benign	Het
Pou2af2	G	A	9: 51,201,516 (GRCm39)	P180L	possibly damaging	Het
Rab11fip1	A	G	8: 27,633,355 (GRCm39)	V596A	probably damaging	Het
Rapgef6	C	T	11: 54,487,912 (GRCm39)	Q13*	probably null	Het
Rasef	T	C	4: 73,698,583 (GRCm39)	D26G	probably benign	Het
Rbfox2	A	T	15: 77,190,658 (GRCm39)	V29E	probably benign	Het
Recql4	G	A	15: 76,589,685 (GRCm39)	P787S	unknown	Het
Rnf19a	A	C	15: 36,253,450 (GRCm39)		probably benign	Het
Rnf214	A	G	9: 45,811,054 (GRCm39)	I203T	probably damaging	Het
Rnmt	A	C	18: 68,451,146 (GRCm39)	E396D	probably benign	Het
Scn4a	G	A	11: 106,210,638 (GRCm39)	S1793L	probably benign	Het
Sdcbp	G	T	4: 6,386,709 (GRCm39)		probably null	Het
Slfn3	A	G	11: 83,103,948 (GRCm39)	N273S	probably damaging	Het
Slk	A	G	19: 47,603,883 (GRCm39)	D209G		Het
Tent5b	A	G	4: 133,214,352 (GRCm39)	T408A	probably damaging	Het
Tmem135	T	A	7: 88,797,204 (GRCm39)	M351L	probably benign	Het
Tmem64	A	G	4: 15,266,391 (GRCm39)	H147R	probably benign	Het
Tnfsf4	T	C	1: 161,244,629 (GRCm39)	L106P	probably damaging	Het
Tonsl	A	T	15: 76,515,270 (GRCm39)	C1039S	probably damaging	Het
Ube4a	A	T	9: 44,864,462 (GRCm39)	F44I	possibly damaging	Het
Vmn2r40	A	G	7: 8,911,172 (GRCm39)	L707P		Het
Vmn2r87	G	A	10: 130,308,165 (GRCm39)	T691I	probably benign	Het
Wbp11	A	T	6: 136,803,044 (GRCm39)	S7T	possibly damaging	Het
Zfp386	C	A	12: 116,023,878 (GRCm39)	S532*	probably null	Het

Other mutations in Gyg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Gyg1	APN	3	20,205,211 (GRCm39)	missense	probably benign	0.22
R1698:Gyg1	UTSW	3	20,192,215 (GRCm39)	missense	probably benign	0.03
R1845:Gyg1	UTSW	3	20,205,286 (GRCm39)	missense	probably damaging	0.96
R2207:Gyg1	UTSW	3	20,204,703 (GRCm39)	missense	probably damaging	1.00
R3930:Gyg1	UTSW	3	20,209,189 (GRCm39)	missense	probably benign	0.26
R4206:Gyg1	UTSW	3	20,206,901 (GRCm39)	missense	probably benign	0.00
R5040:Gyg1	UTSW	3	20,176,823 (GRCm39)	utr 3 prime	probably benign
R7851:Gyg1	UTSW	3	20,176,911 (GRCm39)	missense	probably benign
R8413:Gyg1	UTSW	3	20,179,619 (GRCm39)	missense	probably damaging	1.00
R9647:Gyg1	UTSW	3	20,177,007 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCTAATAACATTTGCCCAGTTCTC -3'
(R):5'- TCACATACTGTTGGTTGCATTC -3'

Sequencing Primer
(F):5'- AATAACATTTGCCCAGTTCTCACCTG -3'
(R):5'- CTTTAAGTTCATCAGGACTTCAGC -3'

Posted On

2021-12-30