Mutagenetix > Incidental Mutations

Incidental Mutation 'R1759:Gbe1'

195236

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

039791-MU

Accession Numbers

Ncbi RefSeq: NM_028803.3; MGI:1921435

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70313949-70569716 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70488041 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 417 (M417T)

Ref Sequence

ENSEMBL: ENSMUSP00000127642 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023393
AA Change: M417T

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023393
Gene: ENSMUSG00000022707
AA Change: M417T

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: M417T

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132603
Gene: ENSMUSG00000022707
AA Change: M417T

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
AA Change: M417T

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131320
Gene: ENSMUSG00000022707
AA Change: M417T

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: M417T

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127642
Gene: ENSMUSG00000022707
AA Change: M417T

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.5%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,625,710	I369N	probably benign	Het
4931428F04Rik	A	T	8: 105,285,550	S88R	probably damaging	Het
9330159F19Rik	A	T	10: 29,218,276	M53L	possibly damaging	Het
Abca5	T	C	11: 110,293,848	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,419,703	Y433C	probably damaging	Het
Aox3	A	G	1: 58,170,646		probably null	Het
Ap1g1	G	A	8: 109,833,221	G260E	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp13a4	T	A	16: 29,456,611	T352S	probably damaging	Het
Ccdc33	T	A	9: 58,117,446	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,016,611	D159E	probably damaging	Het
Chd1	T	A	17: 17,387,271	D360E	probably benign	Het
Col16a1	G	T	4: 130,084,269	G781V	probably damaging	Het
Col6a5	T	A	9: 105,930,846	E1001V	unknown	Het
Cyp3a59	T	G	5: 146,098,250	M246R	probably benign	Het
Dcn	T	C	10: 97,513,655	V263A	probably benign	Het
Dnttip2	A	G	3: 122,276,149	N338D	probably benign	Het
Entpd1	G	T	19: 40,612,524		probably null	Het
Epb41l1	A	G	2: 156,521,974	D801G	probably benign	Het
Fam186a	T	A	15: 99,966,881	K23*	probably null	Het
Gmnc	T	A	16: 26,965,747	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,948,221	S35P	probably damaging	Het
Grid1	T	C	14: 35,446,031	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,635,245	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,083	I308N	probably damaging	Het
Inpp4b	A	G	8: 81,768,103	D49G	probably benign	Het
Ipmk	C	A	10: 71,381,303	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,360,950	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,801,888	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,393,052	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,147,699		probably null	Het
Kiss1r	T	C	10: 79,921,778	L322P	probably damaging	Het
Lce1e	A	T	3: 92,707,871	C56*	probably null	Het
Lrpprc	T	C	17: 84,740,081	K908E	probably damaging	Het
Mak	C	A	13: 41,056,634	W42L	probably damaging	Het
Map3k21	A	G	8: 125,944,780	T936A	probably benign	Het
March7	C	T	2: 60,234,544	S388F	probably damaging	Het
Mgat2	A	T	12: 69,185,527	I292F	probably benign	Het
Myh3	C	A	11: 67,096,891	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,181,993	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,826,613	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,559,543	T43A	probably damaging	Het
Nip7	A	G	8: 107,058,135	N124S	probably benign	Het
Olfr410	G	A	11: 74,334,982	S83F	possibly damaging	Het
Olfr606	T	C	7: 103,452,149	S271P	probably benign	Het
Olfr790	T	A	10: 129,500,906	S7R	probably benign	Het
Olfr843	C	T	9: 19,249,088	V104I	probably benign	Het
Olfr922	T	C	9: 38,815,898	Y132H	probably damaging	Het
Otoa	T	C	7: 121,134,103	L731P	probably damaging	Het
Pcnx2	G	A	8: 125,773,978	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,429,860	T492A	probably damaging	Het
Pgm2	A	G	4: 99,967,108	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,072,761	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,348,763	A195T	probably damaging	Het
Ppib	C	T	9: 66,061,482	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,350,586	T13K	probably benign	Het
Psmg2	A	T	18: 67,648,176	S113C	probably benign	Het
Rapgef2	A	G	3: 79,066,731	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424	R465S	probably damaging	Het
Reln	A	G	5: 22,010,289	Y1055H	probably damaging	Het
Ros1	A	T	10: 52,120,826	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401	V1287F	probably damaging	Het
Sgce	A	T	6: 4,689,765	I356N	probably damaging	Het
Sh3tc1	C	T	5: 35,705,904	E980K	possibly damaging	Het
Sil1	T	C	18: 35,418,098	E68G	possibly damaging	Het
Slc18a1	A	G	8: 69,065,585	I259T	possibly damaging	Het
Slc6a20b	A	C	9: 123,608,997		probably null	Het
Smg7	G	T	1: 152,848,846	T536K	probably benign	Het
Smyd4	A	G	11: 75,382,366	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Sorbs2	A	T	8: 45,763,019	*50C	probably null	Het
Speg	A	T	1: 75,401,162	M855L	possibly damaging	Het
Srrt	G	T	5: 137,302,950	H71Q	probably damaging	Het
St6galnac5	A	G	3: 152,846,493	S146P	probably damaging	Het
Syne1	T	A	10: 5,349,369	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,516,003	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,822,402	M135I	probably benign	Het
Tpr	A	T	1: 150,429,524	E1521D	probably benign	Het
Uba3	C	T	6: 97,196,904	G107R	probably damaging	Het
Unc45b	G	T	11: 82,929,499	V590F	probably benign	Het
Vmn1r14	A	T	6: 57,234,312	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,694,493	N773K	probably damaging	Het
Vps13d	A	T	4: 145,155,857	D1055E	probably benign	Het
Wfs1	G	C	5: 36,967,015	A844G	probably damaging	Het
Zfp398	A	G	6: 47,859,478	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,775,978	A145S	probably damaging	Het
Zfp971	A	T	2: 178,033,929	E440D	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
R1780:Gbe1	UTSW	16	70495324	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TGTTCTCAGGATGATGCTAATGCAAGG -3'
(R):5'- TCCGAGATTTGGTAACTGAAAGACCAC -3'

Sequencing Primer
(F):5'- ATGGGATGTTGTACTAGAGTGTAAAC -3'
(R):5'- TGCAGGAGAATTCATAGTTCACCC -3'

Posted On

2014-05-23