Mutagenetix > Incidental Mutation

Incidental Mutation 'R7343:Gbe1'

570056

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

045433-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70110837-70366604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70157903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 101 (T101A)

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
AA Change: T101A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707
AA Change: T101A

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: ENSMUST00000163832
AA Change: T101A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707
AA Change: T101A

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

probably benign
Transcript: ENSMUST00000170464
AA Change: T101A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707
AA Change: T101A

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
AA Change: T101A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707
AA Change: T101A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	C	6: 83,139,353 (GRCm39)	N426T	probably benign	Het
6430548M08Rik	A	G	8: 120,872,327 (GRCm39)	D85G	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Abcg3	A	T	5: 105,116,100 (GRCm39)	F245I	probably benign	Het
Abhd17a	G	T	10: 80,419,991 (GRCm39)	F231L	possibly damaging	Het
Adgra1	A	T	7: 139,456,058 (GRCm39)	D562V	probably damaging	Het
Akap7	C	A	10: 25,165,567 (GRCm39)		probably benign	Het
Akap9	A	G	5: 4,096,364 (GRCm39)	D2413G	probably damaging	Het
Akr1c18	A	T	13: 4,187,236 (GRCm39)	C193S	probably damaging	Het
Aloxe3	A	T	11: 69,023,569 (GRCm39)	M231L	probably benign	Het
Apoh	A	G	11: 108,286,674 (GRCm39)	T33A	probably benign	Het
Atp13a5	T	C	16: 29,140,567 (GRCm39)	N330D	probably benign	Het
C1ql3	T	G	2: 13,015,589 (GRCm39)	M24L	probably benign	Het
Cacna1d	T	C	14: 29,845,014 (GRCm39)	N712S	probably benign	Het
Cbs	T	C	17: 31,838,113 (GRCm39)	M379V	possibly damaging	Het
Ccdc167	T	C	17: 29,924,517 (GRCm39)	D28G	probably damaging	Het
Ccp110	A	T	7: 118,323,798 (GRCm39)	Q679L	probably benign	Het
Ccz1	A	T	5: 143,935,000 (GRCm39)	L310H	probably damaging	Het
Cerkl	A	T	2: 79,259,104 (GRCm39)	D44E	probably damaging	Het
Cfap221	T	A	1: 119,922,828 (GRCm39)	E38V	possibly damaging	Het
Chia1	T	A	3: 106,039,331 (GRCm39)	*474R	probably null	Het
Clint1	C	T	11: 45,774,590 (GRCm39)	T32M	probably damaging	Het
Clk3	A	T	9: 57,668,239 (GRCm39)	F227L	probably damaging	Het
Col5a3	C	T	9: 20,705,242 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,426,873 (GRCm39)	I501T	probably benign	Het
Dag1	G	A	9: 108,086,292 (GRCm39)	A283V	possibly damaging	Het
Ddr2	A	T	1: 169,809,647 (GRCm39)	W777R	probably damaging	Het
Deaf1	A	T	7: 140,902,871 (GRCm39)	V151D	probably damaging	Het
Dido1	A	T	2: 180,316,914 (GRCm39)	V631E	possibly damaging	Het
Dpp4	G	A	2: 62,189,245 (GRCm39)	Q429*	probably null	Het
Dscaml1	A	G	9: 45,664,214 (GRCm39)	R2030G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E2f8	T	A	7: 48,517,713 (GRCm39)	M697L	probably damaging	Het
Eef2kmt	C	A	16: 5,065,299 (GRCm39)	G303W	probably damaging	Het
Eif2ak1	A	G	5: 143,814,489 (GRCm39)	Y182C	probably damaging	Het
Epha6	G	T	16: 59,780,793 (GRCm39)	A636E	probably damaging	Het
Fancd2	G	A	6: 113,513,900 (GRCm39)	V95I	probably benign	Het
Fbln5	A	T	12: 101,727,075 (GRCm39)	C292S	probably damaging	Het
Fgfr4	A	G	13: 55,306,968 (GRCm39)	Y219C	probably damaging	Het
Frem1	T	G	4: 82,912,359 (GRCm39)	K670T	probably damaging	Het
Fsip2	A	T	2: 82,809,711 (GRCm39)	H2010L	probably benign	Het
Gas2l2	A	T	11: 83,312,816 (GRCm39)	L832*	probably null	Het
Gm5114	T	A	7: 39,058,180 (GRCm39)	I480F	probably damaging	Het
Gm7145	A	T	1: 117,913,842 (GRCm39)	R241S	probably damaging	Het
Gnal	G	A	18: 67,268,596 (GRCm39)	V161I	probably benign	Het
Gtpbp1	T	C	15: 79,575,243 (GRCm39)	C46R	probably benign	Het
Gucy2c	A	T	6: 136,679,746 (GRCm39)	L971Q	probably damaging	Het
Hsp90b1	T	C	10: 86,528,047 (GRCm39)	E740G	probably damaging	Het
Lingo2	G	A	4: 35,709,450 (GRCm39)	L177F	possibly damaging	Het
Mfsd6l	A	G	11: 68,447,874 (GRCm39)	T242A	possibly damaging	Het
Mmadhc	C	T	2: 50,181,457 (GRCm39)	R71K	probably damaging	Het
Mrm3	G	T	11: 76,140,726 (GRCm39)	V245L	probably damaging	Het
Nav3	T	A	10: 109,739,619 (GRCm39)	I117F	probably damaging	Het
Noc3l	A	T	19: 38,783,468 (GRCm39)	V636D	probably damaging	Het
Nwd1	A	T	8: 73,438,410 (GRCm39)	Q1486L	probably damaging	Het
Or10aa1	A	T	1: 173,870,419 (GRCm39)	K301M	probably damaging	Het
Or2y10	A	G	11: 49,455,329 (GRCm39)	T194A	possibly damaging	Het
Or3a10	G	T	11: 73,935,726 (GRCm39)	R125S	possibly damaging	Het
Or4c11c	T	G	2: 88,662,190 (GRCm39)	I243R	probably damaging	Het
Or6c5b	C	G	10: 129,245,852 (GRCm39)	L206V	possibly damaging	Het
Pax9	T	A	12: 56,742,647 (GRCm39)	M1K	probably null	Het
Pcdha1	T	C	18: 37,063,702 (GRCm39)	V122A	probably damaging	Het
Pgpep1l	A	T	7: 67,887,469 (GRCm39)	S44T	probably damaging	Het
Pla2g3	C	T	11: 3,443,022 (GRCm39)	L452F	possibly damaging	Het
Plbd2	G	A	5: 120,631,214 (GRCm39)	R188W	probably damaging	Het
Ppp1r42	G	A	1: 10,039,082 (GRCm39)	P346L	probably benign	Het
Prdm8	T	A	5: 98,332,375 (GRCm39)	V92D	probably damaging	Het
Ripor2	C	A	13: 24,885,427 (GRCm39)	S554*	probably null	Het
Rps19	T	C	7: 24,584,571 (GRCm39)	V4A	probably damaging	Het
Rrm2b	T	A	15: 37,944,817 (GRCm39)	I159F	probably benign	Het
Rusc1	C	A	3: 88,999,057 (GRCm39)	G242W	probably damaging	Het
Sarm1	A	G	11: 78,388,083 (GRCm39)	S68P	possibly damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Slc22a4	A	G	11: 53,877,364 (GRCm39)	F509S	possibly damaging	Het
Slc39a12	G	A	2: 14,456,811 (GRCm39)	A600T	probably damaging	Het
Spta1	A	T	1: 174,050,915 (GRCm39)	H1798L	probably damaging	Het
Sulf2	T	G	2: 165,919,536 (GRCm39)	D804A	possibly damaging	Het
Suz12	A	T	11: 79,910,529 (GRCm39)	E316D	probably benign	Het
Tbrg4	A	G	11: 6,570,065 (GRCm39)	S270P	probably benign	Het
Tecta	T	C	9: 42,248,628 (GRCm39)	T1925A	probably damaging	Het
Thrap3	A	T	4: 126,072,223 (GRCm39)	F390I	probably damaging	Het
Tpr	C	A	1: 150,269,245 (GRCm39)	A70E	unknown	Het
Trpv4	G	C	5: 114,774,520 (GRCm39)	P188R	probably benign	Het
Txlna	A	C	4: 129,525,953 (GRCm39)	L298R	probably damaging	Het
Ubr4	T	C	4: 139,140,749 (GRCm39)	S1223P	probably benign	Het
Ucp1	A	T	8: 84,021,881 (GRCm39)	T238S	probably damaging	Het
Ush2a	A	G	1: 188,147,943 (GRCm39)	S957G	probably benign	Het
Usp34	A	G	11: 23,438,868 (GRCm39)	N3496D		Het
Vmn2r50	T	C	7: 9,784,277 (GRCm39)		probably null	Het
Wdr54	A	G	6: 83,131,921 (GRCm39)	V130A	probably benign	Het
Zfp692	A	T	11: 58,202,331 (GRCm39)	E362V	probably damaging	Het
Zfp811	A	G	17: 33,016,487 (GRCm39)	Y518H	probably damaging	Het
Zfp994	A	C	17: 22,419,049 (GRCm39)	C633W	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
R0131:Gbe1	UTSW	16	70,157,740 (GRCm39)	splice site	probably benign
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
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'- CTTGGAAGCCAAAATTTCTAACCTC -3'
(R):5'- CTGAATGTCTACTTTTACTGAGGACTC -3'

Sequencing Primer
(F):5'- AGCCAGGTTTTGCATGAC -3'
(R):5'- ATGTGATACCAGCTAGTGACTGC -3'

Posted On

2019-09-13