Mutagenetix > Incidental Mutations

Incidental Mutation 'R6271:Sgce'

507329

Institutional Source

Beutler Lab

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

MMRRC Submission

044379-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R6271 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4674350-4747207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4730015 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 70 (K70E)

Ref Sequence

ENSEMBL: ENSMUSP00000111240 (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

possibly damaging
Transcript: ENSMUST00000115577
AA Change: K70E

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: K70E

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	T	4: 133,064,724	C1092F	possibly damaging	Het
Aplf	T	C	6: 87,646,248	E304G	possibly damaging	Het
Atp12a	A	G	14: 56,378,422	D547G	probably benign	Het
B3gat2	T	C	1: 23,815,261	L212P	probably damaging	Het
Babam2	G	T	5: 32,001,362	A219S	probably damaging	Het
Ccdc18	A	C	5: 108,174,887	S618R	possibly damaging	Het
Ces2c	G	A	8: 104,852,116	G342D	probably damaging	Het
Cfap57	A	C	4: 118,595,759	D582E	probably benign	Het
Cisd2	T	C	3: 135,408,866	N115D	possibly damaging	Het
Cyp17a1	A	G	19: 46,672,720	F42L	probably benign	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Fam234a	T	C	17: 26,218,237	D156G	probably benign	Het
Fer1l6	T	A	15: 58,641,918	I1554K	probably benign	Het
Fv1	A	G	4: 147,870,017	T347A	possibly damaging	Het
Gm5134	T	A	10: 75,995,809	C361S	probably benign	Het
Gm5415	T	A	1: 32,545,491	D446V	probably damaging	Het
Grin3a	T	C	4: 49,792,516	I406V	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ifna13	A	C	4: 88,643,845	L181V	possibly damaging	Het
Irx4	A	G	13: 73,266,594		probably null	Het
Kcna3	T	A	3: 107,037,606	M395K	probably damaging	Het
Kcnma1	A	T	14: 23,509,889	V347D	probably damaging	Het
Kng2	A	T	16: 23,003,948	V218E	probably benign	Het
Krt36	G	A	11: 100,104,472	Q167*	probably null	Het
Lama2	T	C	10: 27,023,329	D2457G	possibly damaging	Het
Ldah	G	A	12: 8,268,599		probably null	Het
Lhfpl3	G	T	5: 22,746,244	A18S	probably benign	Het
Lrrk1	A	G	7: 66,307,103		probably null	Het
Ltv1	T	C	10: 13,179,701	Y352C	probably damaging	Het
Lyst	G	T	13: 13,658,754	M1720I	probably benign	Het
Mkx	A	T	18: 6,937,059		probably null	Het
Myo18a	A	G	11: 77,820,809	H626R	probably damaging	Het
Nop9	A	C	14: 55,753,741	Q618H	probably damaging	Het
Olfr1255	T	C	2: 89,816,562	S73P	probably damaging	Het
Olfr25	T	C	9: 38,330,282	S232P	probably benign	Het
Olfr358	T	C	2: 37,005,542	Q24R	probably damaging	Het
Olfr850	A	G	9: 19,478,041	S67P	probably damaging	Het
Otog	C	A	7: 46,252,040	Q388K	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Oxct2b	T	G	4: 123,117,715	V476G	probably damaging	Het
Parp10	T	C	15: 76,242,002	T329A	probably benign	Het
Pcdhga5	T	C	18: 37,696,682	S728P	probably benign	Het
Piezo1	G	T	8: 122,494,932	H574Q	probably damaging	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Pqlc3	T	C	12: 16,997,703	D76G	probably damaging	Het
Preb	C	A	5: 30,958,051	V255F	probably damaging	Het
Prmt9	A	G	8: 77,577,463	N725S	probably damaging	Het
Ric1	A	T	19: 29,567,365		probably null	Het
Serinc3	G	C	2: 163,630,976	L245V	probably benign	Het
Simc1	T	G	13: 54,539,724	V102G	probably damaging	Het
Smyd2	A	G	1: 189,883,852	Y362H	probably damaging	Het
Sptbn1	G	T	11: 30,100,660	H2310N	probably benign	Het
Syne1	T	C	10: 5,234,652	Y4077C	probably damaging	Het
Syne2	C	A	12: 75,890,381	A251E	probably damaging	Het
Taok1	A	T	11: 77,573,783	L159Q	probably damaging	Het
Timeless	T	C	10: 128,250,724	L1043P	probably damaging	Het
Tmprss3	T	C	17: 31,186,562	E352G	probably damaging	Het
Trav6-4	A	T	14: 53,454,582	T46S	probably benign	Het
Ubiad1	A	T	4: 148,436,626	Y180*	probably null	Het
Usp47	A	G	7: 112,087,056	E627G	probably damaging	Het
Vmn2r124	A	G	17: 18,062,883	T280A	probably benign	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
IGL02547:Sgce	APN	6	4711301	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
PIT4445001:Sgce	UTSW	6	4689654	missense	possibly damaging	0.85
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
R6898:Sgce	UTSW	6	4689666	missense	probably damaging	1.00
R7317:Sgce	UTSW	6	4691615	missense	probably benign	0.00
R7347:Sgce	UTSW	6	4694106	missense	probably damaging	1.00
R7512:Sgce	UTSW	6	4707192	missense	possibly damaging	0.75
R7671:Sgce	UTSW	6	4691564	missense	probably damaging	1.00
R8009:Sgce	UTSW	6	4691636	missense	probably damaging	0.99
X0026:Sgce	UTSW	6	4689638	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- AGTAAGCACACGTGAATGGTTC -3'
(R):5'- CTGAGAAGATGTAGTCTGAGCC -3'

Sequencing Primer
(F):5'- GCACACGTGAATGGTTCTATAAGTG -3'
(R):5'- GTCTGAGCCAAGTTAACAGTAAC -3'

Posted On

2018-03-15