Mutagenetix > Incidental Mutation

Incidental Mutation 'R1694:Sgce'

192007

Institutional Source

Beutler Lab

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

MMRRC Submission

039727-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R1694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4674350-4747180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4689709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 375 (S375P)

Ref Sequence

ENSEMBL: ENSMUSP00000121964 (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: S366P

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

SMART Domains

Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: S366P

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: S366P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: S366P

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: S366P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: S366P

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: S411P

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

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: S411P

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: S375P

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

SMART Domains

Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: S375P

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: S334P

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

SMART Domains

Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: S334P

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: S375P

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

SMART Domains

Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: S375P

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: ENSMUST00000128109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153284

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	T	C	10: 120,614,533 (GRCm39)		probably benign	Het
4930447C04Rik	C	T	12: 72,931,992 (GRCm39)		probably null	Het
Abca16	A	G	7: 120,119,307 (GRCm39)	H1017R	probably damaging	Het
Actl11	A	G	9: 107,807,207 (GRCm39)	Y510C	probably damaging	Het
Agbl2	A	G	2: 90,631,664 (GRCm39)	T341A	probably damaging	Het
Agbl5	A	G	5: 31,050,726 (GRCm39)	Y458C	probably damaging	Het
Akap5	C	T	12: 76,376,698 (GRCm39)	S710L	probably damaging	Het
Akr1c21	A	G	13: 4,625,177 (GRCm39)	E36G	probably damaging	Het
Arhgap44	A	G	11: 64,944,023 (GRCm39)	S163P	probably damaging	Het
Armc1	A	G	3: 19,189,050 (GRCm39)	V205A	possibly damaging	Het
Asph	A	G	4: 9,610,869 (GRCm39)	L102P	probably damaging	Het
Brca1	T	C	11: 101,422,925 (GRCm39)	E74G	probably damaging	Het
Brms1l	A	G	12: 55,888,385 (GRCm39)	R58G	probably damaging	Het
C1qbp	G	T	11: 70,869,073 (GRCm39)		probably null	Het
Calcrl	A	T	2: 84,169,631 (GRCm39)	L350H	probably damaging	Het
Casr	A	T	16: 36,315,953 (GRCm39)	F706I	probably damaging	Het
Ceacam10	T	A	7: 24,480,491 (GRCm39)	N87K	probably benign	Het
Cfap206	G	T	4: 34,719,058 (GRCm39)	T316K	probably damaging	Het
Col4a3	A	T	1: 82,668,384 (GRCm39)		probably null	Het
Comtd1	A	G	14: 21,897,398 (GRCm39)	V183A	probably damaging	Het
Crygs	A	T	16: 22,625,425 (GRCm39)		probably null	Het
Dact1	C	A	12: 71,359,551 (GRCm39)	T139K	probably damaging	Het
Dlx6	T	C	6: 6,867,173 (GRCm39)	W259R	probably damaging	Het
Dnah9	G	T	11: 65,845,650 (GRCm39)	S627*	probably null	Het
Dnajc11	T	A	4: 152,063,730 (GRCm39)	V442D	probably damaging	Het
Dnajc21	A	T	15: 10,451,649 (GRCm39)	S393T	probably benign	Het
Dpysl3	C	A	18: 43,461,439 (GRCm39)	C584F	possibly damaging	Het
Efcab14	A	G	4: 115,603,736 (GRCm39)	K138R	possibly damaging	Het
Ephb3	A	G	16: 21,040,495 (GRCm39)	E577G	probably damaging	Het
Exoc3	C	T	13: 74,338,184 (GRCm39)		probably null	Het
Fam171a1	A	G	2: 3,226,660 (GRCm39)	S473G	probably benign	Het
Fbxl2	A	T	9: 113,832,239 (GRCm39)	F58L	probably damaging	Het
Fmo6	T	C	1: 162,750,241 (GRCm39)	M272V	probably benign	Het
Gm10000	T	C	12: 104,442,859 (GRCm39)		probably benign	Het
Grik1	T	A	16: 87,746,956 (GRCm39)	D442V	probably damaging	Het
Hectd1	A	G	12: 51,791,375 (GRCm39)	Y2588H	probably damaging	Het
Insrr	A	C	3: 87,711,369 (GRCm39)	T430P	probably benign	Het
Lats1	T	C	10: 7,577,709 (GRCm39)	S278P	probably benign	Het
Lrch4	A	G	5: 137,636,723 (GRCm39)	T463A	probably benign	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Lyst	T	G	13: 13,835,746 (GRCm39)	F1809L	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,770 (GRCm39)	Y85H	possibly damaging	Het
Magoh	G	T	4: 107,740,362 (GRCm39)	R82L	probably benign	Het
Mdfic2	A	C	6: 98,215,100 (GRCm39)	S174R	probably damaging	Het
Mlh1	A	G	9: 111,057,543 (GRCm39)	V756A	probably damaging	Het
Mlh3	T	C	12: 85,313,915 (GRCm39)	E757G	probably damaging	Het
Mycbp2	T	C	14: 103,464,947 (GRCm39)	T1339A	probably damaging	Het
Myh7b	A	T	2: 155,455,113 (GRCm39)	E46V	probably damaging	Het
Naalad2	T	A	9: 18,238,683 (GRCm39)	R677S	probably damaging	Het
Nadsyn1	G	A	7: 143,361,749 (GRCm39)	T324I	probably benign	Het
Neo1	A	T	9: 58,787,886 (GRCm39)	L1389Q	probably damaging	Het
Nlrp1b	A	G	11: 71,107,681 (GRCm39)		probably null	Het
Nup210	A	C	6: 91,039,785 (GRCm39)	I690S	probably benign	Het
Or55b3	A	T	7: 102,126,547 (GRCm39)	S177T	probably benign	Het
Or5an11	T	A	19: 12,246,281 (GRCm39)	I229N	probably damaging	Het
Or9r7	T	A	10: 129,962,123 (GRCm39)	I268F	possibly damaging	Het
Otud7a	C	A	7: 63,383,458 (GRCm39)	H316N	probably damaging	Het
Pcdh15	T	C	10: 74,429,995 (GRCm39)	S1241P	probably damaging	Het
Pclo	A	G	5: 14,570,977 (GRCm39)	K121E	probably damaging	Het
Pcmtd1	A	T	1: 7,217,872 (GRCm39)	I107L	probably benign	Het
Pde6c	A	G	19: 38,168,673 (GRCm39)	I755V	probably damaging	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,113,240 (GRCm39)	I1532N	probably damaging	Het
Pla2r1	A	G	2: 60,271,428 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,474,621 (GRCm39)	N661S	probably null	Het
Plekhd1	A	G	12: 80,769,095 (GRCm39)	K452E	possibly damaging	Het
Prr12	C	A	7: 44,678,003 (GRCm39)	V2003F	unknown	Het
Ptger1	G	A	8: 84,395,107 (GRCm39)	G195R	probably benign	Het
Ptpn4	T	C	1: 119,711,240 (GRCm39)	Q67R	probably damaging	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rock1	A	G	18: 10,136,094 (GRCm39)		probably null	Het
Rtn1	T	C	12: 72,270,298 (GRCm39)	Y71C	probably damaging	Het
Rtp4	T	C	16: 23,431,870 (GRCm39)	*62Q	probably null	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scimp	G	T	11: 70,684,618 (GRCm39)	P78H	probably damaging	Het
Scn8a	C	A	15: 100,853,409 (GRCm39)	S132*	probably null	Het
Set	A	G	2: 29,959,436 (GRCm39)	I124M	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Slc4a1ap	G	C	5: 31,701,098 (GRCm39)	E600Q	probably damaging	Het
Slit1	A	G	19: 41,626,031 (GRCm39)	V577A	possibly damaging	Het
Sqstm1	A	G	11: 50,098,307 (GRCm39)	V153A	probably benign	Het
Src	A	G	2: 157,311,675 (GRCm39)	M468V	possibly damaging	Het
Srrm3	A	G	5: 135,902,079 (GRCm39)		probably benign	Het
Stk11ip	C	T	1: 75,504,030 (GRCm39)	R257W	probably damaging	Het
Tfrc	T	A	16: 32,433,443 (GRCm39)	D32E	probably damaging	Het
Tor1aip2	A	T	1: 155,941,031 (GRCm39)	I446L	probably benign	Het
Trmt11	T	C	10: 30,411,221 (GRCm39)	H424R	probably benign	Het
Urb1	A	G	16: 90,563,928 (GRCm39)	Y1612H	probably benign	Het
Vcan	A	T	13: 89,836,602 (GRCm39)	S2981T	probably damaging	Het
Vdac1	G	C	11: 52,265,190 (GRCm39)	G21A	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Xpo1	A	G	11: 23,231,399 (GRCm39)	T328A	probably benign	Het
Xrcc5	C	T	1: 72,358,255 (GRCm39)	L197F	possibly damaging	Het
Zfhx2	G	C	14: 55,311,401 (GRCm39)	S431C	possibly damaging	Het
Zfp410	C	T	12: 84,372,494 (GRCm39)	P54S	probably benign	Het
Zfp560	C	A	9: 20,259,282 (GRCm39)	G527*	probably null	Het
Zfp775	A	G	6: 48,596,389 (GRCm39)	T88A	possibly damaging	Het
Zfp780b	T	A	7: 27,663,808 (GRCm39)	H249L	possibly damaging	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
R0611:Sgce	UTSW	6	4,689,621 (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
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'- CAGCTAAATGCTACGGTTTGGAGGG -3'
(R):5'- AAAGGGCTCAAAAGCTAAGGCTACC -3'

Sequencing Primer
(F):5'- GATATTGGTAAAAGCCCCATGC -3'
(R):5'- TCATTACGGCTAGTGCGTCA -3'

Posted On

2014-05-14