Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Gbe1'

197485

Institutional Source

Beutler Lab

Gene Symbol

Gbe1

Ensembl Gene

ENSMUSG00000022707

Gene Name

glucan (1,4-alpha-), branching enzyme 1

Synonyms

2310045H19Rik, D16Ertd536e, 2810426P10Rik

MMRRC Submission

039811-MU

Accession Numbers

Ncbi RefSeq: NM_028803.3; MGI:1921435

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70313949-70569716 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 70495324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 515 (R515*)

Ref Sequence

ENSEMBL: ENSMUSP00000127642 (fasta)

Gene Model

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

AlphaFold

Q9D6Y9

Predicted Effect

probably null
Transcript: ENSMUST00000023393
AA Change: R515*

SMART Domains

Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707
AA Change: R515*

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 null
Transcript: ENSMUST00000163832
AA Change: R515*

SMART Domains

Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707
AA Change: R515*

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 null
Transcript: ENSMUST00000170464
AA Change: R515*

SMART Domains

Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707
AA Change: R515*

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 null
Transcript: ENSMUST00000171132
AA Change: R515*

SMART Domains

Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707
AA Change: R515*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

MGI Phenotype

Strain: 4868492; 5293612
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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,852,593	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897	Y174*	probably null	Het
Bche	A	G	3: 73,700,620	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783		probably null	Het
Cadps2	C	T	6: 23,320,932		probably null	Het
Cdc42bpb	A	T	12: 111,322,907	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876		probably benign	Het
Cyp2c39	C	A	19: 39,538,851		probably benign	Het
Cyp2d26	T	C	15: 82,794,007	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147		probably benign	Het
Dnah11	A	T	12: 118,027,558	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999	E778G	unknown	Het
Hsd17b6	A	G	10: 127,994,327		probably null	Het
Hyal6	C	T	6: 24,734,032		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mx1	T	C	16: 97,451,512	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185	E1970G	probably damaging	Het
Mypn	T	C	10: 63,121,964	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336		probably null	Het
Slc13a3	T	C	2: 165,406,699	N553S	unknown	Het
Smg6	T	A	11: 74,946,116	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454		probably null	Het
Tmed10	A	G	12: 85,354,879	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327	H841N	probably damaging	Het

Other mutations in Gbe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Gbe1	APN	16	70478369	missense	probably damaging	1.00
IGL01783:Gbe1	APN	16	70401855	critical splice donor site	probably null
IGL02437:Gbe1	APN	16	70434658	splice site	probably benign
IGL02635:Gbe1	APN	16	70569014	missense	probably damaging	1.00
IGL02836:Gbe1	APN	16	70561095	missense	possibly damaging	0.90
IGL03331:Gbe1	APN	16	70433578	missense	probably damaging	1.00
IGL03138:Gbe1	UTSW	16	70529063	utr 3 prime	probably benign
PIT4515001:Gbe1	UTSW	16	70441116	nonsense	probably null
R0044:Gbe1	UTSW	16	70561132	nonsense	probably null
R0044:Gbe1	UTSW	16	70561132	nonsense	probably null
R0131:Gbe1	UTSW	16	70360852	splice site	probably benign
R0178:Gbe1	UTSW	16	70478386	missense	probably damaging	1.00
R0374:Gbe1	UTSW	16	70483914	missense	probably benign	0.09
R1036:Gbe1	UTSW	16	70528887	missense	probably damaging	1.00
R1162:Gbe1	UTSW	16	70381850	intron	probably benign
R1759:Gbe1	UTSW	16	70488041	missense	probably benign	0.11
R1998:Gbe1	UTSW	16	70569041	missense	probably damaging	1.00
R2001:Gbe1	UTSW	16	70528926	missense	probably damaging	1.00
R2002:Gbe1	UTSW	16	70528926	missense	probably damaging	1.00
R2269:Gbe1	UTSW	16	70436952	missense	probably damaging	1.00
R2353:Gbe1	UTSW	16	70437021	splice site	probably null
R2434:Gbe1	UTSW	16	70441212	missense	probably damaging	1.00
R4114:Gbe1	UTSW	16	70483827	missense	possibly damaging	0.64
R4528:Gbe1	UTSW	16	70478337	missense	probably benign
R4736:Gbe1	UTSW	16	70495253	missense	probably damaging	1.00
R4859:Gbe1	UTSW	16	70478401	missense	probably damaging	1.00
R5884:Gbe1	UTSW	16	70528875	splice site	probably null
R6222:Gbe1	UTSW	16	70529012	critical splice donor site	probably null
R6527:Gbe1	UTSW	16	70433672	critical splice donor site	probably null
R6770:Gbe1	UTSW	16	70314265	missense	possibly damaging	0.86
R6770:Gbe1	UTSW	16	70401838	missense	probably damaging	1.00
R6941:Gbe1	UTSW	16	70433556	small deletion	probably benign
R7193:Gbe1	UTSW	16	70495370	missense	probably damaging	1.00
R7232:Gbe1	UTSW	16	70436940	missense	possibly damaging	0.91
R7343:Gbe1	UTSW	16	70361015	missense	probably benign	0.09
R7810:Gbe1	UTSW	16	70527197	missense	possibly damaging	0.92
R7822:Gbe1	UTSW	16	70433612	missense	probably damaging	0.98
R7876:Gbe1	UTSW	16	70441171	missense	probably benign
R8319:Gbe1	UTSW	16	70488076	missense	probably benign	0.05
R8487:Gbe1	UTSW	16	70436988	missense	probably damaging	1.00
R8958:Gbe1	UTSW	16	70478322	missense	probably damaging	1.00
R9058:Gbe1	UTSW	16	70527171	missense	possibly damaging	0.82
R9231:Gbe1	UTSW	16	70488101	missense	possibly damaging	0.96
R9358:Gbe1	UTSW	16	70441239	missense	probably benign	0.00
R9429:Gbe1	UTSW	16	70495315	missense	probably benign	0.01
R9562:Gbe1	UTSW	16	70401776	missense	probably benign	0.00
R9565:Gbe1	UTSW	16	70401776	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGTATCCCCGCGCTATGCTA -3'
(R):5'- GGCCATGACTTTCACTCTTGTGACA -3'

Sequencing Primer
(F):5'- GCTATGCTACTCTAAGTTACGACTG -3'
(R):5'- GGACTTGTGAATGACTACCTCAG -3'

Posted On

2014-05-23