Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Sgce'

570274

Institutional Source

Beutler Lab

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4674350-4747207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4694106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 283 (R283S)

Ref Sequence

ENSEMBL: ENSMUSP00000111240 (fasta)

Gene Model

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

AlphaFold

O70258

Predicted Effect

probably damaging
Transcript: ENSMUST00000004750
AA Change: R247S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: R247S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090686
AA Change: R247S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: R247S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000101677
AA Change: R247S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: R247S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115577
AA Change: R283S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: R283S

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 damaging
Transcript: ENSMUST00000115579
AA Change: R247S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: R247S

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 damaging
Transcript: ENSMUST00000126151
AA Change: R206S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: R206S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000133306
AA Change: R247S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: R247S

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

Meta Mutation Damage Score

0.7999

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	A	9: 103,282,646	E22V	possibly damaging	Het
4930564D02Rik	G	T	3: 105,078,412	R47S	unknown	Het
4931408C20Rik	A	T	1: 26,684,467	L544Q	probably benign	Het
Abtb2	T	G	2: 103,567,412	I229S	probably damaging	Het
Adgre1	T	C	17: 57,420,441	L457P	probably damaging	Het
Amer3	C	A	1: 34,587,902	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,849,035	S729P	probably benign	Het
Asap2	T	G	12: 21,229,457	I418S	probably benign	Het
Atp5j2	T	C	5: 145,188,485		probably null	Het
Brinp3	T	A	1: 146,902,086	V757E	probably benign	Het
Brip1	C	T	11: 86,139,103	G572R	probably benign	Het
C3	C	A	17: 57,223,215	R462L	probably benign	Het
Cat	T	A	2: 103,463,298	H395L	probably benign	Het
Cela3a	T	C	4: 137,402,606	N235D	possibly damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,185,268	G993W	probably damaging	Het
Col9a1	A	G	1: 24,179,403		probably null	Het
Coro2b	G	T	9: 62,489,372	H29N	probably benign	Het
Dll3	C	T	7: 28,299,111	R143H	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530	*114R	probably null	Het
Ecm2	T	C	13: 49,515,078	S86P	probably damaging	Het
Eif5	T	C	12: 111,540,290		probably benign	Het
Ets1	T	A	9: 32,733,032		probably null	Het
Exph5	A	G	9: 53,375,896	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,687,666	F110L	probably benign	Het
Flt1	T	A	5: 147,580,381	E1032V	probably damaging	Het
Galnt5	A	T	2: 58,017,193	H556L	probably benign	Het
Glb1l3	A	T	9: 26,829,003	Y344N	probably benign	Het
Glrx3	C	A	7: 137,459,286	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,591,375	C246S	probably damaging	Het
Gm8251	G	T	1: 44,059,496	P814Q	probably damaging	Het
Gm906	T	C	13: 50,245,744	I849V	probably benign	Het
Gstm4	A	G	3: 108,042,373	L137P	probably benign	Het
Hsd17b13	T	C	5: 103,968,750	T169A	probably damaging	Het
Hydin	A	C	8: 110,600,362	T4778P	probably benign	Het
Ifna15	A	G	4: 88,557,983	L88P	probably damaging	Het
Kcnab1	G	A	3: 65,376,531	R390H	probably benign	Het
Kng1	C	A	16: 23,067,787	H161N	possibly damaging	Het
Lamp5	T	C	2: 136,060,958	V199A	probably benign	Het
Lrig3	G	A	10: 126,009,966	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,144,044	R412H	probably damaging	Het
March6	C	A	15: 31,486,359	C350F	probably benign	Het
Mastl	A	G	2: 23,133,389	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,991,728	M231L	probably benign	Het
Micalcl	T	C	7: 112,382,151	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo15	A	G	11: 60,477,961	M516V	probably benign	Het
Myo1b	A	T	1: 51,751,254	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,569,321	L381*	probably null	Het
Nln	T	C	13: 104,050,847	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,745,504	P271S	probably benign	Het
Obox6	A	C	7: 15,834,646	L102V	possibly damaging	Het
Olfr1008	T	C	2: 85,689,837	M136T	probably damaging	Het
Olfr1208	T	C	2: 88,897,271	I109V	possibly damaging	Het
Olfr1241	T	C	2: 89,482,455	S227G	probably benign	Het
Olfr853	A	G	9: 19,537,099	M277T	probably damaging	Het
Pde10a	A	G	17: 8,967,462	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,183,098	S760L	possibly damaging	Het
Pid1	T	A	1: 84,159,129	I94L	unknown	Het
Plekhn1	T	C	4: 156,222,671	H474R	probably benign	Het
Prcc	A	T	3: 87,869,681	S329T	possibly damaging	Het
Pros1	G	T	16: 62,919,523	R445L	probably damaging	Het
Pxdn	C	A	12: 30,012,261	H1370Q	probably benign	Het
Slc25a20	T	G	9: 108,682,458		probably null	Het
Slc6a1	T	C	6: 114,311,818	V446A	probably damaging	Het
Slc6a4	C	G	11: 77,017,085	Y358*	probably null	Het
Sned1	A	C	1: 93,281,736	E857A	probably damaging	Het
Spdye4b	C	T	5: 143,202,390	R213C	possibly damaging	Het
Spry2	T	G	14: 105,893,512	E80A	probably damaging	Het
Stard9	G	A	2: 120,666,534	C142Y	probably benign	Het
Sync	A	T	4: 129,294,306	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,485,692	C718R		Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmbim1	T	C	1: 74,291,279	E185G	probably benign	Het
Tyk2	T	C	9: 21,108,034	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,748,501	V87I	not run	Het
Vmn2r49	A	G	7: 9,986,814	V250A	probably benign	Het
Yipf3	A	C	17: 46,250,827	T187P	probably damaging	Het
Zfp148	G	T	16: 33,434,790	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably damaging	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
R6271:Sgce	UTSW	6	4730015	missense	possibly damaging	0.81
R6898:Sgce	UTSW	6	4689666	missense	probably damaging	1.00
R7317:Sgce	UTSW	6	4691615	missense	probably benign	0.00
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
R8378:Sgce	UTSW	6	4689760	missense	probably damaging	1.00
R8378:Sgce	UTSW	6	4691525	missense	probably benign	0.01
R8942:Sgce	UTSW	6	4730027	missense	probably benign
R9187:Sgce	UTSW	6	4711362	missense	probably benign	0.00
R9276:Sgce	UTSW	6	4674585	missense	probably damaging	1.00
R9334:Sgce	UTSW	6	4707205	missense	probably damaging	0.99
R9517:Sgce	UTSW	6	4694153	missense	probably damaging	1.00
X0026:Sgce	UTSW	6	4689638	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CAACAGCAATTCGGGTTCCAG -3'
(R):5'- AGATGACTCTAGTTAAGCCCTCAATTC -3'

Sequencing Primer
(F):5'- CAATTCGGGTTCCAGTCAAATGG -3'
(R):5'- CTAGTTAAGCCCTCAATTCAAAAGG -3'

Posted On

2019-09-13