Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Gbe1'

60470

Institutional Source

Beutler Lab

Gene Symbol

Gbe1

Ensembl Gene

ENSMUSG00000022707

Gene Name

1,4-alpha-glucan branching enzyme 1

Synonyms

2310045H19Rik, D16Ertd536e, 2810426P10Rik

MMRRC Submission

038416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0131 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

70110837-70366604 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 70157740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023393] [ENSMUST00000163832] [ENSMUST00000170464] [ENSMUST00000171132]

AlphaFold

Q9D6Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000023393

SMART Domains

Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
Pfam:CBM_48	75	161	9.4e-17	PFAM
Pfam:Alpha-amylase	218	336	1.1e-17	PFAM
Pfam:Alpha-amylase_C	603	698	1.3e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099628

Predicted Effect

probably benign
Transcript: ENSMUST00000163832

SMART Domains

Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
Pfam:CBM_48	75	161	6e-19	PFAM
Pfam:Alpha-amylase	220	337	5.9e-14	PFAM
Pfam:Alpha-amylase_C	603	698	2.2e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164300

Predicted Effect

probably benign
Transcript: ENSMUST00000170464

SMART Domains

Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
Pfam:CBM_48	75	161	9.4e-17	PFAM
Pfam:Alpha-amylase	218	336	1.1e-17	PFAM
Pfam:Alpha-amylase_C	603	698	1.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171132

SMART Domains

Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
Pfam:CBM_48	75	161	1.8e-17	PFAM
Pfam:Alpha-amylase	218	338	2.7e-18	PFAM
Pfam:Alpha-amylase_C	603	650	4.1e-12	PFAM

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit mid-to-late gestation lethality, decreased heart rate, glycogen storage defects, and ventricles that were small, hypertrabeculated, and noncompacted. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Chemically induced(1)

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,833,115 (GRCm39)	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,651,114 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bicd1	A	G	6: 149,414,445 (GRCm39)	E386G	probably damaging	Het
Bmal2	C	A	6: 146,729,601 (GRCm39)	H471N	probably benign	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cacna1c	T	C	6: 118,602,473 (GRCm39)	I1428V	probably damaging	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Cldnd1	T	C	16: 58,553,355 (GRCm39)	L232P	probably damaging	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Col3a1	T	A	1: 45,368,028 (GRCm39)		probably benign	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Cyc1	G	A	15: 76,229,159 (GRCm39)	V142I	probably benign	Het
Dapk3	A	G	10: 81,028,141 (GRCm39)	T265A	probably benign	Het
Ddx21	A	T	10: 62,420,531 (GRCm39)	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,188,717 (GRCm39)	L1735Q	probably damaging	Het
Dse	A	G	10: 34,029,660 (GRCm39)	Y341H	probably damaging	Het
Elmod2	A	G	8: 84,046,133 (GRCm39)	I148T	probably damaging	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659 (GRCm39)	D98G	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Fcrl2	A	G	3: 87,166,266 (GRCm39)	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,821,465 (GRCm39)	D5733N	probably benign	Het
Gm6327	T	C	16: 12,578,909 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Idi2l	T	A	13: 8,990,563 (GRCm39)		probably benign	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Kmt2b	A	T	7: 30,283,346 (GRCm39)	C296S	probably damaging	Het
Lgals4	A	G	7: 28,533,657 (GRCm39)		probably null	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Mylk	T	C	16: 34,695,874 (GRCm39)	V203A	probably benign	Het
Myom2	A	G	8: 15,133,329 (GRCm39)	N407S	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2t6	T	C	14: 14,175,620 (GRCm38)	D154G	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pate3	A	G	9: 35,557,453 (GRCm39)	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,006,440 (GRCm39)	D106G	probably null	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Proc	C	T	18: 32,268,951 (GRCm39)	M11I	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Psg21	A	G	7: 18,388,793 (GRCm39)	Y100H	probably benign	Het
Pten	T	A	19: 32,753,469 (GRCm39)	V45E	probably benign	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rab7b	T	C	1: 131,626,293 (GRCm39)	L107P	probably damaging	Het
Rbm47	T	A	5: 66,183,872 (GRCm39)	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,496,170 (GRCm39)	G122C	probably damaging	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc12a3	G	A	8: 95,067,511 (GRCm39)		probably benign	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Spg11	T	C	2: 121,901,449 (GRCm39)	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tet3	C	G	6: 83,345,770 (GRCm39)	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,280,682 (GRCm39)	S693P	probably benign	Het
Tmcc2	C	T	1: 132,308,444 (GRCm39)	G150D	probably benign	Het
Tmem216	T	C	19: 10,531,970 (GRCm39)	Y44C	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ubr4	A	G	4: 139,191,362 (GRCm39)	T4127A	possibly damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Wrnip1	G	A	13: 32,990,847 (GRCm39)	V369I	probably damaging	Het
Zc3h12c	T	A	9: 52,037,923 (GRCm39)	I305F	possibly damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	Het

Other mutations in Gbe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Gbe1	APN	16	70,198,743 (GRCm39)	critical splice donor site	probably null
IGL01783:Gbe1	APN	16	70,275,257 (GRCm39)	missense	probably damaging	1.00
IGL02437:Gbe1	APN	16	70,231,546 (GRCm39)	splice site	probably benign
IGL02635:Gbe1	APN	16	70,365,902 (GRCm39)	missense	probably damaging	1.00
IGL02836:Gbe1	APN	16	70,357,983 (GRCm39)	missense	possibly damaging	0.90
IGL03331:Gbe1	APN	16	70,230,466 (GRCm39)	missense	probably damaging	1.00
IGL03138:Gbe1	UTSW	16	70,325,951 (GRCm39)	utr 3 prime	probably benign
PIT4515001:Gbe1	UTSW	16	70,238,004 (GRCm39)	nonsense	probably null
R0044:Gbe1	UTSW	16	70,358,020 (GRCm39)	nonsense	probably null
R0044:Gbe1	UTSW	16	70,358,020 (GRCm39)	nonsense	probably null
R0178:Gbe1	UTSW	16	70,275,274 (GRCm39)	missense	probably damaging	1.00
R0374:Gbe1	UTSW	16	70,280,802 (GRCm39)	missense	probably benign	0.09
R1036:Gbe1	UTSW	16	70,325,775 (GRCm39)	missense	probably damaging	1.00
R1162:Gbe1	UTSW	16	70,178,738 (GRCm39)	intron	probably benign
R1759:Gbe1	UTSW	16	70,284,929 (GRCm39)	missense	probably benign	0.11
R1780:Gbe1	UTSW	16	70,292,212 (GRCm39)	nonsense	probably null
R1998:Gbe1	UTSW	16	70,365,929 (GRCm39)	missense	probably damaging	1.00
R2001:Gbe1	UTSW	16	70,325,814 (GRCm39)	missense	probably damaging	1.00
R2002:Gbe1	UTSW	16	70,325,814 (GRCm39)	missense	probably damaging	1.00
R2269:Gbe1	UTSW	16	70,233,840 (GRCm39)	missense	probably damaging	1.00
R2353:Gbe1	UTSW	16	70,233,909 (GRCm39)	splice site	probably null
R2434:Gbe1	UTSW	16	70,238,100 (GRCm39)	missense	probably damaging	1.00
R4114:Gbe1	UTSW	16	70,280,715 (GRCm39)	missense	possibly damaging	0.64
R4528:Gbe1	UTSW	16	70,275,225 (GRCm39)	missense	probably benign
R4736:Gbe1	UTSW	16	70,292,141 (GRCm39)	missense	probably damaging	1.00
R4859:Gbe1	UTSW	16	70,275,289 (GRCm39)	missense	probably damaging	1.00
R5884:Gbe1	UTSW	16	70,325,763 (GRCm39)	splice site	probably null
R6222:Gbe1	UTSW	16	70,325,900 (GRCm39)	critical splice donor site	probably null
R6527:Gbe1	UTSW	16	70,230,560 (GRCm39)	critical splice donor site	probably null
R6770:Gbe1	UTSW	16	70,198,726 (GRCm39)	missense	probably damaging	1.00
R6770:Gbe1	UTSW	16	70,111,153 (GRCm39)	missense	possibly damaging	0.86
R6941:Gbe1	UTSW	16	70,230,444 (GRCm39)	small deletion	probably benign
R7193:Gbe1	UTSW	16	70,292,258 (GRCm39)	missense	probably damaging	1.00
R7232:Gbe1	UTSW	16	70,233,828 (GRCm39)	missense	possibly damaging	0.91
R7343:Gbe1	UTSW	16	70,157,903 (GRCm39)	missense	probably benign	0.09
R7810:Gbe1	UTSW	16	70,324,085 (GRCm39)	missense	possibly damaging	0.92
R7822:Gbe1	UTSW	16	70,230,500 (GRCm39)	missense	probably damaging	0.98
R7876:Gbe1	UTSW	16	70,238,059 (GRCm39)	missense	probably benign
R8319:Gbe1	UTSW	16	70,284,964 (GRCm39)	missense	probably benign	0.05
R8487:Gbe1	UTSW	16	70,233,876 (GRCm39)	missense	probably damaging	1.00
R8958:Gbe1	UTSW	16	70,275,210 (GRCm39)	missense	probably damaging	1.00
R9058:Gbe1	UTSW	16	70,324,059 (GRCm39)	missense	possibly damaging	0.82
R9231:Gbe1	UTSW	16	70,284,989 (GRCm39)	missense	possibly damaging	0.96
R9358:Gbe1	UTSW	16	70,238,127 (GRCm39)	missense	probably benign	0.00
R9429:Gbe1	UTSW	16	70,292,203 (GRCm39)	missense	probably benign	0.01
R9562:Gbe1	UTSW	16	70,198,664 (GRCm39)	missense	probably benign	0.00
R9565:Gbe1	UTSW	16	70,198,664 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGGATCATCAGTTTCACTTCATGCC -3'
(R):5'- TGACATTCGCTGGGAAGTCTGATAAC -3'

Sequencing Primer
(F):5'- acagacaaactacagcccac -3'
(R):5'- aaaCATGCAAATTAAGTCTTCATGAC -3'

Posted On

2013-07-23