Mutagenetix > Incidental Mutation

Incidental Mutation 'R7232:Gbe1'

562584

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

045303-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70110837-70366604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70233828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 235 (I235T)

Ref Sequence

ENSEMBL: ENSMUSP00000127642 (fasta)

Gene Model

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

AlphaFold

Q9D6Y9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023393
AA Change: I235T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707
AA Change: I235T

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

possibly damaging
Transcript: ENSMUST00000163832
AA Change: I235T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707
AA Change: I235T

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

possibly damaging
Transcript: ENSMUST00000170464
AA Change: I235T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707
AA Change: I235T

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

possibly damaging
Transcript: ENSMUST00000171132
AA Change: I235T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707
AA Change: I235T

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	G	A	7: 40,642,603 (GRCm39)	G91S	probably damaging	Het
Adam21	T	G	12: 81,607,330 (GRCm39)	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,597,515 (GRCm39)		probably null	Het
Angpt4	T	C	2: 151,771,460 (GRCm39)	S259P	possibly damaging	Het
Aqr	A	C	2: 113,936,363 (GRCm39)	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,990,323 (GRCm39)	G266D	probably benign	Het
Bop1	A	G	15: 76,337,546 (GRCm39)	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,738,863 (GRCm39)		probably null	Het
Cfap46	C	A	7: 139,197,493 (GRCm39)	R2126L	unknown	Het
Chek2	T	C	5: 111,008,781 (GRCm39)	V304A	probably damaging	Het
Cntnap4	T	A	8: 113,391,731 (GRCm39)		probably null	Het
Ctps1	C	A	4: 120,405,321 (GRCm39)	G374C	probably damaging	Het
Defa27	A	T	8: 21,805,625 (GRCm39)	I22F	probably damaging	Het
Dnah14	T	C	1: 181,584,928 (GRCm39)	S3220P	probably damaging	Het
Dop1b	T	G	16: 93,557,373 (GRCm39)		probably null	Het
Dpysl5	G	A	5: 30,949,642 (GRCm39)	V471I	probably benign	Het
Duoxa1	T	A	2: 122,135,728 (GRCm39)	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,165,678 (GRCm39)	E85G	possibly damaging	Het
Eogt	T	A	6: 97,096,944 (GRCm39)	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279 (GRCm39)	V800E	probably damaging	Het
Evi5l	A	G	8: 4,255,906 (GRCm39)	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,414,728 (GRCm39)	Y125H	probably damaging	Het
Fbxo15	T	C	18: 84,980,747 (GRCm39)	Y241H	probably damaging	Het
Gfra3	C	T	18: 34,844,234 (GRCm39)	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380 (GRCm39)	G233S	probably damaging	Het
Gm29106	C	T	1: 118,127,291 (GRCm39)	P328S	probably damaging	Het
Hgfac	G	T	5: 35,204,258 (GRCm39)	R507L	probably damaging	Het
Jakmip3	A	G	7: 138,609,355 (GRCm39)	K153R	probably benign	Het
Kcnc1	T	A	7: 46,077,383 (GRCm39)	V395E	probably damaging	Het
Krt6b	T	C	15: 101,586,577 (GRCm39)	D304G	probably damaging	Het
Ldha	T	C	7: 46,500,323 (GRCm39)	Y174H	probably benign	Het
Lgi4	G	A	7: 30,766,776 (GRCm39)	V268M	possibly damaging	Het
Lpar3	T	G	3: 145,947,061 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,905,477 (GRCm39)	D103G	probably damaging	Het
Marchf5	G	A	19: 37,194,713 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,419,866 (GRCm39)	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,239,672 (GRCm39)	D741N	probably damaging	Het
Naglu	A	T	11: 100,967,252 (GRCm39)	I401F	probably damaging	Het
Ncam2	T	A	16: 81,309,759 (GRCm39)	N416K	probably damaging	Het
Ncan	A	G	8: 70,564,738 (GRCm39)	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	A	T	19: 5,553,659 (GRCm39)	S41T	possibly damaging	Het
Onecut2	T	A	18: 64,474,633 (GRCm39)	W395R	probably damaging	Het
Or10a2	T	A	7: 106,673,062 (GRCm39)	I9K	probably benign	Het
Pak6	T	A	2: 118,524,003 (GRCm39)	V386E	probably damaging	Het
Pias2	A	G	18: 77,220,931 (GRCm39)	S396G	probably benign	Het
Plxna2	T	A	1: 194,394,568 (GRCm39)	L483H	probably damaging	Het
Prss36	G	T	7: 127,534,763 (GRCm39)	R484S	probably benign	Het
Ptpn21	A	T	12: 98,654,996 (GRCm39)	V657E	probably benign	Het
Rassf2	T	C	2: 131,838,332 (GRCm39)	E318G	probably damaging	Het
Rp1	A	C	1: 4,298,824 (GRCm39)	S623A	unknown	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn11a	T	A	9: 119,588,982 (GRCm39)	E1308V	probably damaging	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Slit3	A	G	11: 35,501,516 (GRCm39)	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,367,310 (GRCm39)	A162E	possibly damaging	Het
Sox13	A	T	1: 133,312,129 (GRCm39)		probably null	Het
Sox8	G	T	17: 25,786,514 (GRCm39)	S396R	probably benign	Het
Sult2a3	A	T	7: 13,816,685 (GRCm39)	F164L	possibly damaging	Het
Susd2	T	C	10: 75,475,685 (GRCm39)	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,655,810 (GRCm39)	T14P	probably damaging	Het
Tcf25	T	A	8: 124,127,800 (GRCm39)		probably null	Het
Tenm3	G	A	8: 48,688,970 (GRCm39)	R2206W	probably damaging	Het
Tep1	A	G	14: 51,081,789 (GRCm39)	L471P	unknown	Het
Ticrr	A	T	7: 79,343,490 (GRCm39)	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,770 (GRCm39)	V141A	probably benign	Het
Unc79	T	A	12: 103,100,734 (GRCm39)	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,920,020 (GRCm39)	D235G	probably benign	Het
Vcam1	T	C	3: 115,919,628 (GRCm39)	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 41,786,166 (GRCm39)	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,703 (GRCm39)	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,240,329 (GRCm39)	S160T	probably benign	Het
Zar1	G	A	5: 72,738,294 (GRCm39)	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,135,984 (GRCm39)	M204K	probably benign	Het
Zhx1	T	C	15: 57,916,465 (GRCm39)	T594A	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
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'- GCAGGATGTGACTCTAAGAGAC -3'
(R):5'- TCTGAAGAAAGTGACCCCAGTAC -3'

Sequencing Primer
(F):5'- TGTGACTCTAAGAGACAAATGTCCG -3'
(R):5'- GTACAAGAAAACATTCGCCTTCTC -3'

Posted On

2019-06-26