Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02547:Sgce'

297901

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

4674350-4747207 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 4711301 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004750] [ENSMUST00000090686] [ENSMUST00000101677] [ENSMUST00000115577] [ENSMUST00000115579] [ENSMUST00000126151] [ENSMUST00000133306]

Predicted Effect

probably benign
Transcript: ENSMUST00000004750

SMART Domains

Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
CADG	49	157	1.86e-10	SMART
low complexity region	412	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090686

SMART Domains

Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
CADG	49	157	1.86e-10	SMART
low complexity region	412	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101677

SMART Domains

Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
CADG	49	157	1.86e-10	SMART
low complexity region	421	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115577

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
CADG	85	193	1.86e-10	SMART
low complexity region	457	468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115579

SMART Domains

Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
CADG	49	157	1.86e-10	SMART
low complexity region	421	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123907

SMART Domains

Protein: ENSMUSP00000120910
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
CADG	32	140	1.86e-10	SMART
low complexity region	395	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126151

SMART Domains

Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
CADG	26	134	1.86e-10	SMART
low complexity region	389	400	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128109

Predicted Effect

probably benign
Transcript: ENSMUST00000133306

SMART Domains

Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631

Domain	Start	End	E-Value	Type
CADG	26	134	1.86e-10	SMART
low complexity region	398	409	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203556

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele display significantly increased myoclonus and deficits in motor coordination and balance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	C	T	5: 109,678,762		probably null	Het
Akap6	T	A	12: 53,140,696	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,603,276		probably benign	Het
Atp5o	A	T	16: 91,928,961	Y48N	probably damaging	Het
Birc6	T	G	17: 74,579,645	M656R	probably benign	Het
Camkk1	A	G	11: 73,038,433	R455G	probably benign	Het
Casr	A	T	16: 36,515,674	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,214,146	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,202,504		probably benign	Het
Cdc37	G	T	9: 21,139,966		probably benign	Het
Cdon	A	G	9: 35,478,654	D868G	probably damaging	Het
Cyp4f15	A	G	17: 32,700,255	R351G	probably benign	Het
Dclk3	T	C	9: 111,469,023	I545T	probably damaging	Het
Dock4	A	G	12: 40,737,479	M798V	probably benign	Het
Gas7	A	T	11: 67,665,435	Q200L	probably damaging	Het
Gm15448	T	C	7: 3,821,661	D573G	probably damaging	Het
Gm4758	A	T	16: 36,312,526		probably benign	Het
Gm6614	A	T	6: 141,990,390	L323Q	probably damaging	Het
Ica1	T	C	6: 8,670,691		probably null	Het
Idh3a	T	A	9: 54,592,395	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970	T247S	probably benign	Het
Itgb7	A	G	15: 102,218,510	C497R	probably damaging	Het
Itm2c	T	C	1: 85,906,461	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,672,484	D98G	probably damaging	Het
Mstn	A	T	1: 53,064,125	I207F	probably benign	Het
Muc15	A	G	2: 110,731,305	R29G	probably damaging	Het
Neb	T	A	2: 52,188,730	T142S	probably damaging	Het
Nipbl	G	A	15: 8,351,598	T570I	probably benign	Het
Nr5a2	T	A	1: 136,940,927	M196L	probably benign	Het
Nrp1	C	A	8: 128,493,031	F643L	probably benign	Het
Olfr1098	A	G	2: 86,923,028	F168S	probably damaging	Het
Olfr1441	A	T	19: 12,422,311	M1L	probably benign	Het
Olfr600	A	G	7: 103,346,244	F228S	probably damaging	Het
Olfr625-ps1	T	C	7: 103,682,766	I16T	probably benign	Het
Osbpl9	C	T	4: 109,068,483	W446*	probably null	Het
Pced1a	T	C	2: 130,419,707	D342G	possibly damaging	Het
Prkcd	C	A	14: 30,599,469	W555L	probably damaging	Het
Prpf31	T	C	7: 3,630,899	S78P	probably benign	Het
Psg27	T	C	7: 18,560,628	T285A	probably benign	Het
Retreg3	A	T	11: 101,106,378	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501	K282E	possibly damaging	Het
Sept8	G	T	11: 53,537,265	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,116,543	I192V	probably damaging	Het
Spats1	A	T	17: 45,474,817		probably benign	Het
Tcerg1l	C	T	7: 138,248,371		probably null	Het
Ttn	A	G	2: 76,729,386	V21230A	probably damaging	Het
Ubxn11	A	C	4: 134,109,584	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,908,019	I979S	possibly damaging	Het
Zc3h6	T	A	2: 129,015,611	H683Q	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp629	T	C	7: 127,611,674		probably null	Het

Other mutations in Sgce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Sgce	APN	6	4689750	missense	probably damaging	1.00
IGL01399:Sgce	APN	6	4746997	missense	probably damaging	1.00
IGL01796:Sgce	APN	6	4711326	missense	probably damaging	1.00
IGL02403:Sgce	APN	6	4694059	missense	probably damaging	1.00
IGL02421:Sgce	APN	6	4694187	splice site	probably benign
IGL02585:Sgce	APN	6	4711388	splice site	probably benign
IGL03355:Sgce	APN	6	4689738	missense	probably damaging	1.00
IGL03374:Sgce	APN	6	4689718	nonsense	probably null
R0345:Sgce	UTSW	6	4718019	missense	probably damaging	1.00
R0611:Sgce	UTSW	6	4689621	missense	probably damaging	1.00
R0719:Sgce	UTSW	6	4689753	missense	probably damaging	1.00
R1162:Sgce	UTSW	6	4691419	splice site	probably benign
R1630:Sgce	UTSW	6	4719476	missense	probably damaging	0.98
R1694:Sgce	UTSW	6	4689709	missense	probably damaging	1.00
R1759:Sgce	UTSW	6	4689765	missense	probably damaging	1.00
R1897:Sgce	UTSW	6	4691511	missense	probably benign	0.00
R2231:Sgce	UTSW	6	4730066	missense	probably benign	0.44
R3429:Sgce	UTSW	6	4730008	missense	probably benign	0.01
R4011:Sgce	UTSW	6	4691563	nonsense	probably null
R4426:Sgce	UTSW	6	4691459	missense	probably damaging	0.97
R4427:Sgce	UTSW	6	4691459	missense	probably damaging	0.97
R4651:Sgce	UTSW	6	4689560	intron	probably benign
R4652:Sgce	UTSW	6	4689560	intron	probably benign
R4921:Sgce	UTSW	6	4694153	missense	probably damaging	1.00
R4974:Sgce	UTSW	6	4689630	missense	probably benign	0.00
R6271:Sgce	UTSW	6	4730015	missense	possibly damaging	0.81
R6898:Sgce	UTSW	6	4689666	missense	probably damaging	1.00
X0026:Sgce	UTSW	6	4689638	missense	probably benign	0.41

Posted On

2015-04-16