Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Gbe1'

372362

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

042470-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70110837-70366604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70275289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 363 (L363P)

Ref Sequence

ENSEMBL: ENSMUSP00000127642 (fasta)

Gene Model

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

AlphaFold

Q9D6Y9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023393
AA Change: L363P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707
AA Change: L363P

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 damaging
Transcript: ENSMUST00000163832
AA Change: L363P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707
AA Change: L363P

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 damaging
Transcript: ENSMUST00000170464
AA Change: L363P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707
AA Change: L363P

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 damaging
Transcript: ENSMUST00000171132
AA Change: L363P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707
AA Change: L363P

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

0.9630

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,580 (GRCm39)	V282E	probably benign	Het
Adam26b	T	C	8: 43,973,296 (GRCm39)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,509,609 (GRCm39)	N661D	probably damaging	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,628,438 (GRCm39)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 44,796,731 (GRCm39)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,459,748 (GRCm39)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,397,131 (GRCm39)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,853,287 (GRCm39)	T743S	probably benign	Het
Bag2	G	T	1: 33,786,022 (GRCm39)	T100K	probably damaging	Het
Camk2a	A	G	18: 61,076,246 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,781,262 (GRCm39)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,324,653 (GRCm39)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,418 (GRCm39)	V405A	probably benign	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,667,554 (GRCm39)	F510L	probably benign	Het
Chd3	A	T	11: 69,250,722 (GRCm39)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,456,532 (GRCm39)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,868,565 (GRCm39)	V1371A	probably damaging	Het
Dars2	A	G	1: 160,872,560 (GRCm39)	L547P	probably damaging	Het
Dis3	A	G	14: 99,325,226 (GRCm39)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,395,762 (GRCm39)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 67,066,888 (GRCm39)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,500,923 (GRCm39)	F509L	probably benign	Het
Evc	T	C	5: 37,458,253 (GRCm39)	T85A	probably damaging	Het
Farsb	T	C	1: 78,444,609 (GRCm39)	T283A	probably benign	Het
Fem1al	G	T	11: 29,775,178 (GRCm39)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,429,845 (GRCm39)	R30L	possibly damaging	Het
Gcg	A	G	2: 62,307,189 (GRCm39)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,176,963 (GRCm39)		probably benign	Het
Gm5431	T	C	11: 48,780,409 (GRCm39)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,802,655 (GRCm39)	S1089P	probably benign	Het
Hgd	T	C	16: 37,409,111 (GRCm39)	L25P	probably damaging	Het
Hnf1a	T	C	5: 115,093,311 (GRCm39)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,794,826 (GRCm39)	V71G	possibly damaging	Het
Hydin	T	C	8: 111,233,126 (GRCm39)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,353,154 (GRCm39)	S399G	probably benign	Het
Kank2	T	C	9: 21,691,078 (GRCm39)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,573,810 (GRCm39)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,604,540 (GRCm39)	*201W	probably null	Het
Kndc1	T	C	7: 139,501,821 (GRCm39)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lonp1	A	G	17: 56,933,587 (GRCm39)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,469,478 (GRCm39)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,805,457 (GRCm39)	S351P	probably damaging	Het
Msh2	G	A	17: 88,026,187 (GRCm39)	V722I	possibly damaging	Het
Mtcl3	A	C	10: 29,026,390 (GRCm39)	M491L	probably benign	Het
N4bp2	T	C	5: 65,982,641 (GRCm39)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,743,032 (GRCm39)	K862T	probably damaging	Het
Notch4	A	T	17: 34,806,154 (GRCm39)	Q1750L	probably damaging	Het
Obscn	C	T	11: 58,972,849 (GRCm39)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,003,993 (GRCm39)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,775,156 (GRCm39)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,110,243 (GRCm39)	Y57*	probably null	Het
Or5m8	T	C	2: 85,823,075 (GRCm39)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,295,655 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,575,892 (GRCm39)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,003,449 (GRCm39)	E87D	probably damaging	Het
Prss3	T	A	6: 41,350,857 (GRCm39)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,526,989 (GRCm39)	E413G	probably benign	Het
Rnf150	A	G	8: 83,590,712 (GRCm39)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,488,934 (GRCm39)		probably null	Het
Scap	T	A	9: 110,203,410 (GRCm39)		probably benign	Het
Sdc2	A	C	15: 33,032,602 (GRCm39)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,851,547 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,146,164 (GRCm39)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,259,441 (GRCm39)	I46T	probably damaging	Het
Slfn8	A	G	11: 82,908,540 (GRCm39)	M1T	probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tbck	T	G	3: 132,507,288 (GRCm39)	S753R	probably benign	Het
Tdp1	A	G	12: 99,876,070 (GRCm39)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,330,877 (GRCm39)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,194,078 (GRCm39)	S701T	probably benign	Het
Trbv17	A	T	6: 41,140,223 (GRCm39)	N26I	probably benign	Het
Trip12	A	T	1: 84,771,531 (GRCm39)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,335,330 (GRCm39)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 85,797,611 (GRCm39)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,507,415 (GRCm39)	M14K	probably null	Het
Xcr1	T	A	9: 123,685,712 (GRCm39)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,716,070 (GRCm39)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,942,511 (GRCm39)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,942,516 (GRCm39)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,555,283 (GRCm39)		noncoding transcript	Het
Zyg11a	A	T	4: 108,067,387 (GRCm39)	I41N	probably damaging	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
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'- AGTACGTGTCTCCTGAATATCCTGC -3'
(R):5'- AGCAGCAGAAATGTCTACCC -3'

Sequencing Primer
(F):5'- ATCCATAATCCAAACACGTGCTATG -3'
(R):5'- AGCAGAAATGTCTACCCAAAATATG -3'

Posted On

2016-03-01