Mutagenetix > Incidental Mutation

Incidental Mutation 'R0611:Sgce'

54706

Institutional Source

Beutler Lab

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

MMRRC Submission

038800-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.550) question?

Stock #

R0611 (G1)

Quality Score

148

Status

Not validated

Chromosome

Chromosomal Location

4674350-4747180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4689621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 395 (D395G)

Ref Sequence

ENSEMBL: ENSMUSP00000004750 (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: D395G

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

SMART Domains

Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: D395G

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
AA Change: D395G

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: D395G

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: D395G

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

SMART Domains

Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: D395G

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: D440G

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

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: D440G

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: D404G

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

SMART Domains

Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: D404G

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: D363G

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

SMART Domains

Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: D363G

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: D404G

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

SMART Domains

Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: D404G

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: ENSMUST00000128109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139029

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 94.9%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,851,479 (GRCm39)	M819K	possibly damaging	Het
Adamtsl3	T	G	7: 82,178,120 (GRCm39)	C528G	probably damaging	Het
Akap9	A	G	5: 4,004,870 (GRCm39)	K148E	probably benign	Het
Akr1b1	A	T	6: 34,286,577 (GRCm39)	D225E	probably benign	Het
Alms1	C	A	6: 85,655,653 (GRCm39)	Q2931K	possibly damaging	Het
Ano3	T	C	2: 110,715,346 (GRCm39)	K31E	possibly damaging	Het
Cdc37	A	G	9: 21,053,537 (GRCm39)	I242T	probably damaging	Het
Celsr1	T	A	15: 85,816,524 (GRCm39)	K1806N	possibly damaging	Het
Clpb	T	A	7: 101,436,956 (GRCm39)	I707N	possibly damaging	Het
Cntnap2	A	T	6: 47,072,483 (GRCm39)	Y1017F	possibly damaging	Het
Creb3l2	A	T	6: 37,311,416 (GRCm39)	S458T	probably benign	Het
Ctnnd2	C	A	15: 31,009,230 (GRCm39)	T1109K	possibly damaging	Het
Dcaf10	T	A	4: 45,373,011 (GRCm39)	L425Q	probably damaging	Het
Dlec1	A	G	9: 118,941,167 (GRCm39)	E239G	probably benign	Het
Dnah2	T	C	11: 69,390,020 (GRCm39)	K742E	probably damaging	Het
Dsp	A	T	13: 38,371,717 (GRCm39)	R889S	probably damaging	Het
Dync1h1	T	A	12: 110,599,222 (GRCm39)	M1859K	probably damaging	Het
Efcab7	T	A	4: 99,758,886 (GRCm39)	N361K	probably damaging	Het
Eps8l2	T	C	7: 140,935,646 (GRCm39)	V139A	probably damaging	Het
Fads3	T	G	19: 10,019,200 (GRCm39)	H35Q	probably damaging	Het
Fam163b	C	A	2: 27,003,583 (GRCm39)	V24F	probably damaging	Het
Gm14496	A	T	2: 181,636,904 (GRCm39)	T121S	probably benign	Het
Gm4799	C	T	10: 82,790,563 (GRCm39)		noncoding transcript	Het
Gm7168	A	T	17: 14,169,797 (GRCm39)	D388V	probably benign	Het
Gmeb1	A	T	4: 131,953,386 (GRCm39)	L460*	probably null	Het
Gpc6	T	G	14: 118,212,430 (GRCm39)	F534V	probably null	Het
Hectd3	A	G	4: 116,853,241 (GRCm39)	D156G	possibly damaging	Het
Itga6	T	C	2: 71,650,404 (GRCm39)	I150T	possibly damaging	Het
Kansl1	A	G	11: 104,229,012 (GRCm39)	M863T	probably benign	Het
Kcnb2	A	T	1: 15,780,664 (GRCm39)	Y512F	probably benign	Het
Klhdc2	A	T	12: 69,347,053 (GRCm39)	M73L	probably benign	Het
Ktn1	A	G	14: 47,932,073 (GRCm39)	T667A	probably benign	Het
Lgsn	A	C	1: 31,242,736 (GRCm39)	I273L	probably benign	Het
Lilra5	A	G	7: 4,245,232 (GRCm39)	D292G	probably benign	Het
Mrps27	C	T	13: 99,541,582 (GRCm39)	R229C	probably damaging	Het
Muc5b	T	G	7: 141,416,173 (GRCm39)	S3040A	probably benign	Het
Nat14	T	C	7: 4,926,275 (GRCm39)	S7P	probably damaging	Het
Nfia	A	G	4: 97,671,694 (GRCm39)	I135V	possibly damaging	Het
Nkd1	G	A	8: 89,248,944 (GRCm39)	A30T	probably damaging	Het
Nup205	A	G	6: 35,202,903 (GRCm39)	D1370G	probably null	Het
Or1j15	C	G	2: 36,459,568 (GRCm39)		probably null	Het
Or4k15c	G	A	14: 50,321,310 (GRCm39)	T276I	probably damaging	Het
Or51k2	T	C	7: 103,596,400 (GRCm39)	L209P	probably damaging	Het
Or5p79	T	A	7: 108,221,494 (GRCm39)	N158K	possibly damaging	Het
Or8s10	T	C	15: 98,336,168 (GRCm39)	S273P	possibly damaging	Het
Orc1	C	T	4: 108,459,229 (GRCm39)	A466V	probably benign	Het
Otud7a	T	A	7: 63,385,638 (GRCm39)	D367E	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,263 (GRCm39)	Y191C	probably damaging	Het
Pclo	T	C	5: 14,762,828 (GRCm39)	V3767A	unknown	Het
Pclo	T	C	5: 14,728,789 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,628,225 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,842,483 (GRCm39)	F62S	probably damaging	Het
Rangrf	T	C	11: 68,863,518 (GRCm39)	S163G	probably benign	Het
Rgs12	C	A	5: 35,176,804 (GRCm39)	A65E	probably damaging	Het
Rrbp1	T	C	2: 143,830,436 (GRCm39)	N577S	probably damaging	Het
Septin11	A	G	5: 93,315,393 (GRCm39)	H374R	probably damaging	Het
Serpina5	T	G	12: 104,070,046 (GRCm39)	N314K	probably benign	Het
Slc26a9	A	T	1: 131,690,499 (GRCm39)	N501I	probably damaging	Het
Slc9c1	A	G	16: 45,401,965 (GRCm39)	D784G	possibly damaging	Het
Snapc2	A	G	8: 4,305,676 (GRCm39)	D207G	probably benign	Het
Stard9	G	T	2: 120,529,738 (GRCm39)	M1998I	probably benign	Het
Stk38	A	C	17: 29,194,907 (GRCm39)	F280V	possibly damaging	Het
Tas2r126	A	G	6: 42,412,025 (GRCm39)	K186R	probably damaging	Het
Tdp1	A	C	12: 99,875,970 (GRCm39)	D307A	probably benign	Het
Tead2	A	G	7: 44,866,674 (GRCm39)	D11G	probably damaging	Het
Tmco4	C	A	4: 138,747,383 (GRCm39)	L211I	probably damaging	Het
Tmem183a	A	G	1: 134,280,115 (GRCm39)	F255S	probably damaging	Het
Tmem87a	C	T	2: 120,205,929 (GRCm39)	G349S	possibly damaging	Het
Tpte	G	A	8: 22,826,549 (GRCm39)	E377K	possibly damaging	Het
Trim32	T	C	4: 65,531,893 (GRCm39)	F150S	possibly damaging	Het
Trpc7	T	A	13: 57,035,636 (GRCm39)	K99M	probably damaging	Het
Ttc22	A	G	4: 106,491,381 (GRCm39)	K195E	probably damaging	Het
Txn2	G	A	15: 77,811,917 (GRCm39)	P7S	probably damaging	Het
Ubxn2a	G	A	12: 4,930,700 (GRCm39)	T220I	probably damaging	Het
Ufd1	A	G	16: 18,633,626 (GRCm39)	N17S	possibly damaging	Het
Unc13a	A	G	8: 72,102,509 (GRCm39)	S958P	probably damaging	Het
Vmn1r202	T	A	13: 22,685,824 (GRCm39)	M198L	probably damaging	Het
Vmn2r84	G	A	10: 130,221,991 (GRCm39)	A743V	probably damaging	Het
Washc5	A	G	15: 59,213,007 (GRCm39)	F891S	probably damaging	Het
Zfp708	T	C	13: 67,218,375 (GRCm39)	T495A	probably benign	Het
Zfp81	A	G	17: 33,553,593 (GRCm39)	I407T	probably benign	Het
Zswim5	T	C	4: 116,843,874 (GRCm39)		probably null	Het

Other mutations in Sgce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Sgce	APN	6	4,689,750 (GRCm39)	missense	probably damaging	1.00
IGL01399:Sgce	APN	6	4,746,997 (GRCm39)	missense	probably damaging	1.00
IGL01796:Sgce	APN	6	4,711,326 (GRCm39)	missense	probably damaging	1.00
IGL02403:Sgce	APN	6	4,694,059 (GRCm39)	missense	probably damaging	1.00
IGL02421:Sgce	APN	6	4,694,187 (GRCm39)	splice site	probably benign
IGL02547:Sgce	APN	6	4,711,301 (GRCm39)	splice site	probably benign
IGL02585:Sgce	APN	6	4,711,388 (GRCm39)	splice site	probably benign
IGL03355:Sgce	APN	6	4,689,738 (GRCm39)	missense	probably damaging	1.00
IGL03374:Sgce	APN	6	4,689,718 (GRCm39)	nonsense	probably null
PIT4445001:Sgce	UTSW	6	4,689,654 (GRCm39)	missense	possibly damaging	0.85
R0345:Sgce	UTSW	6	4,718,019 (GRCm39)	missense	probably damaging	1.00
R0719:Sgce	UTSW	6	4,689,753 (GRCm39)	missense	probably damaging	1.00
R1162:Sgce	UTSW	6	4,691,419 (GRCm39)	splice site	probably benign
R1630:Sgce	UTSW	6	4,719,476 (GRCm39)	missense	probably damaging	0.98
R1694:Sgce	UTSW	6	4,689,709 (GRCm39)	missense	probably damaging	1.00
R1759:Sgce	UTSW	6	4,689,765 (GRCm39)	missense	probably damaging	1.00
R1897:Sgce	UTSW	6	4,691,511 (GRCm39)	missense	probably benign	0.00
R2231:Sgce	UTSW	6	4,730,066 (GRCm39)	missense	probably benign	0.44
R3429:Sgce	UTSW	6	4,730,008 (GRCm39)	missense	probably benign	0.01
R4011:Sgce	UTSW	6	4,691,563 (GRCm39)	nonsense	probably null
R4426:Sgce	UTSW	6	4,691,459 (GRCm39)	missense	probably damaging	0.97
R4427:Sgce	UTSW	6	4,691,459 (GRCm39)	missense	probably damaging	0.97
R4651:Sgce	UTSW	6	4,689,560 (GRCm39)	intron	probably benign
R4652:Sgce	UTSW	6	4,689,560 (GRCm39)	intron	probably benign
R4921:Sgce	UTSW	6	4,694,153 (GRCm39)	missense	probably damaging	1.00
R4974:Sgce	UTSW	6	4,689,630 (GRCm39)	missense	probably benign	0.00
R6271:Sgce	UTSW	6	4,730,015 (GRCm39)	missense	possibly damaging	0.81
R6898:Sgce	UTSW	6	4,689,666 (GRCm39)	missense	probably damaging	1.00
R7317:Sgce	UTSW	6	4,691,615 (GRCm39)	missense	probably benign	0.00
R7347:Sgce	UTSW	6	4,694,106 (GRCm39)	missense	probably damaging	1.00
R7512:Sgce	UTSW	6	4,707,192 (GRCm39)	missense	possibly damaging	0.75
R7671:Sgce	UTSW	6	4,691,564 (GRCm39)	missense	probably damaging	1.00
R8009:Sgce	UTSW	6	4,691,636 (GRCm39)	missense	probably damaging	0.99
R8378:Sgce	UTSW	6	4,691,525 (GRCm39)	missense	probably benign	0.01
R8378:Sgce	UTSW	6	4,689,760 (GRCm39)	missense	probably damaging	1.00
R8942:Sgce	UTSW	6	4,730,027 (GRCm39)	missense	probably benign
R9187:Sgce	UTSW	6	4,711,362 (GRCm39)	missense	probably benign	0.00
R9276:Sgce	UTSW	6	4,674,585 (GRCm39)	missense	probably damaging	1.00
R9334:Sgce	UTSW	6	4,707,205 (GRCm39)	missense	probably damaging	0.99
R9517:Sgce	UTSW	6	4,694,153 (GRCm39)	missense	probably damaging	1.00
X0026:Sgce	UTSW	6	4,689,638 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- AGGATTGTCATACTCTAGCCTCTGCC -3'
(R):5'- AGTATCCAGCTTGTCCATCACAGCTC -3'

Sequencing Primer
(F):5'- TCAAAAGGACTCATCTTGGGAC -3'
(R):5'- GTCCATCACAGCTCGATTCAG -3'

Posted On

2013-07-11