Mutagenetix > Incidental Mutation

Incidental Mutation 'R4921:Sgce'

378567

Institutional Source

Beutler Lab

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

MMRRC Submission

042523-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R4921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4674350-4747180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4694153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 268 (F268I)

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: F232I

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

SMART Domains

Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: F232I

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: F232I

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

SMART Domains

Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: F232I

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: F232I

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

SMART Domains

Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: F232I

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: F268I

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

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: F268I

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: F232I

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

SMART Domains

Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: F232I

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: F191I

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

SMART Domains

Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: F191I

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: ENSMUST00000139029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128109

Predicted Effect

probably damaging
Transcript: ENSMUST00000133306
AA Change: F232I

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

SMART Domains

Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: F232I

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

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
4930522L14Rik	A	T	5: 109,885,662 (GRCm39)	N65K	probably benign	Het
Abcc9	T	C	6: 142,536,162 (GRCm39)	Y1524C	probably benign	Het
Acap1	A	G	11: 69,778,019 (GRCm39)	I102T	probably damaging	Het
Acvr2a	T	C	2: 48,783,553 (GRCm39)	V284A	possibly damaging	Het
Adam3	T	C	8: 25,174,630 (GRCm39)	M712V	probably benign	Het
Adck1	T	C	12: 88,407,908 (GRCm39)	V213A	probably benign	Het
Adgrl3	G	T	5: 81,659,957 (GRCm39)	W242L	probably damaging	Het
Alk	T	C	17: 72,211,310 (GRCm39)	T857A	probably benign	Het
Alms1	A	G	6: 85,605,528 (GRCm39)	T2393A	probably benign	Het
Ank3	C	T	10: 69,837,939 (GRCm39)	P240L	probably damaging	Het
Ankrd35	C	A	3: 96,592,140 (GRCm39)	L809M	possibly damaging	Het
Birc6	T	A	17: 74,957,094 (GRCm39)	L3690Q	probably damaging	Het
Bmp3	C	A	5: 99,019,920 (GRCm39)	F114L	probably damaging	Het
Cage1	G	A	13: 38,203,184 (GRCm39)	H627Y	probably benign	Het
Cars1	T	C	7: 143,123,212 (GRCm39)	D468G	probably damaging	Het
Ccdc148	T	C	2: 58,719,814 (GRCm39)	E487G	probably damaging	Het
Ccdc80	A	T	16: 44,938,530 (GRCm39)	I746F	probably damaging	Het
Ccl25	A	G	8: 4,403,913 (GRCm39)	Q119R	possibly damaging	Het
Cdh24	C	T	14: 54,870,672 (GRCm39)	D178N	probably damaging	Het
Cdk12	A	T	11: 98,113,513 (GRCm39)	T766S	unknown	Het
Chst15	T	A	7: 131,849,613 (GRCm39)	T443S	probably benign	Het
Cnbp	T	C	6: 87,822,128 (GRCm39)	D125G	possibly damaging	Het
Cntn2	A	T	1: 132,443,770 (GRCm39)	V1003E	possibly damaging	Het
Crct1	A	G	3: 92,922,132 (GRCm39)		probably benign	Het
Dand5	C	T	8: 85,543,113 (GRCm39)	C121Y	probably damaging	Het
Dmkn	A	T	7: 30,470,658 (GRCm39)	D382V	probably damaging	Het
Dnase2b	T	A	3: 146,299,196 (GRCm39)	T86S	probably damaging	Het
Dusp8	GCCACCACCACCACCACCACCACC	GCCACCACCACCACCACCACC	7: 141,635,891 (GRCm39)		probably benign	Het
Eef1akmt1	C	T	14: 57,788,089 (GRCm39)	V90M	probably damaging	Het
Egfl7	G	T	2: 26,480,992 (GRCm39)	W168L	probably benign	Het
Ep400	A	G	5: 110,813,676 (GRCm39)	C2908R	probably damaging	Het
Espl1	A	G	15: 102,223,676 (GRCm39)	K1076E	probably damaging	Het
Exoc4	A	G	6: 33,887,452 (GRCm39)	N747D	probably benign	Het
Fancm	T	C	12: 65,123,915 (GRCm39)	V191A	probably benign	Het
Fbxo17	A	G	7: 28,432,214 (GRCm39)	D97G	probably benign	Het
Fer1l6	G	T	15: 58,472,160 (GRCm39)		probably null	Het
Flt4	T	C	11: 49,517,970 (GRCm39)	W337R	probably damaging	Het
Fpr-rs7	T	C	17: 20,334,082 (GRCm39)	H136R	possibly damaging	Het
Frem3	T	A	8: 81,339,765 (GRCm39)	I686N	possibly damaging	Het
Galnt9	A	G	5: 110,725,315 (GRCm39)	K84R	probably damaging	Het
Gfm2	T	A	13: 97,312,184 (GRCm39)	M760K	probably damaging	Het
Glis3	T	C	19: 28,643,504 (GRCm39)	T13A	probably damaging	Het
H2-K2	A	G	17: 34,216,050 (GRCm39)	V323A	possibly damaging	Het
Hbb-bs	G	A	7: 103,475,927 (GRCm39)	A130V	probably damaging	Het
Herc2	T	A	7: 55,879,438 (GRCm39)	H4685Q	probably benign	Het
Ighv5-9-1	C	T	12: 113,699,914 (GRCm39)	R56H	possibly damaging	Het
Itgb4	A	G	11: 115,897,431 (GRCm39)	N1548S	probably benign	Het
Itpr3	T	C	17: 27,316,979 (GRCm39)	Y745H	probably damaging	Het
Kank3	G	T	17: 34,036,174 (GRCm39)	G14V	probably damaging	Het
Kif24	G	T	4: 41,394,329 (GRCm39)	S982Y	probably damaging	Het
Kifc5b	C	T	17: 27,139,997 (GRCm39)	R53W	probably damaging	Het
Krt39	A	G	11: 99,405,575 (GRCm39)	S442P	possibly damaging	Het
Lcat	G	A	8: 106,669,074 (GRCm39)	P67L	possibly damaging	Het
Maml2	T	C	9: 13,532,471 (GRCm39)	S562P	probably damaging	Het
Map3k8	G	A	18: 4,349,124 (GRCm39)	R65W	possibly damaging	Het
Mbd3	G	T	10: 80,231,410 (GRCm39)	R12S	probably damaging	Het
Msr1	T	C	8: 40,077,292 (GRCm39)	E106G	possibly damaging	Het
Myh4	T	A	11: 67,144,854 (GRCm39)	L1256Q	probably damaging	Het
Mypn	G	A	10: 62,983,715 (GRCm39)	T511M	possibly damaging	Het
Nub1	A	T	5: 24,906,467 (GRCm39)	N331I	probably benign	Het
Nup107	A	G	10: 117,606,416 (GRCm39)	V440A	possibly damaging	Het
Ofcc1	A	G	13: 40,367,993 (GRCm39)	F174L	probably benign	Het
Or10d5	A	C	9: 39,861,521 (GRCm39)	V182G	probably damaging	Het
Or52ab2	A	T	7: 102,969,750 (GRCm39)	N44I	probably damaging	Het
Or9q2	T	C	19: 13,772,829 (GRCm39)	I49V	probably benign	Het
Parp2	C	A	14: 51,056,725 (GRCm39)	L310I	probably damaging	Het
Pcdh20	A	G	14: 88,707,162 (GRCm39)	V46A	probably benign	Het
Pcdhgb6	A	G	18: 37,876,525 (GRCm39)	D411G	probably damaging	Het
Pkd1l2	T	C	8: 117,781,624 (GRCm39)	E807G	probably benign	Het
Pkd1l2	A	T	8: 117,799,288 (GRCm39)	N267K	probably damaging	Het
Pramel24	A	T	4: 143,454,896 (GRCm39)	K398M	possibly damaging	Het
Rell1	C	A	5: 64,093,376 (GRCm39)	M126I	probably damaging	Het
Robo4	G	A	9: 37,313,856 (GRCm39)	E36K	probably benign	Het
Rpgrip1l	T	C	8: 91,987,637 (GRCm39)	S807G	probably benign	Het
Rpl10a	T	C	17: 28,549,826 (GRCm39)	V169A	probably benign	Het
Rubcn	C	T	16: 32,667,664 (GRCm39)	V166I	probably damaging	Het
Sall2	T	C	14: 52,552,850 (GRCm39)	E113G	possibly damaging	Het
Sars2	T	C	7: 28,451,863 (GRCm39)	S423P	possibly damaging	Het
Scaper	A	G	9: 55,799,519 (GRCm39)	I182T	probably benign	Het
Selp	A	G	1: 163,968,966 (GRCm39)	D522G	possibly damaging	Het
Sema4b	T	A	7: 79,848,504 (GRCm39)	I35N	possibly damaging	Het
Slc14a2	G	T	18: 78,235,403 (GRCm39)	A258E	probably damaging	Het
Slc17a9	T	C	2: 180,377,742 (GRCm39)	Y213H	probably benign	Het
Slc22a7	T	G	17: 46,747,859 (GRCm39)	I233L	probably benign	Het
Slc35f1	A	G	10: 52,938,698 (GRCm39)	Q210R	probably damaging	Het
Slc6a21	A	G	7: 44,937,734 (GRCm39)	E350G	possibly damaging	Het
Spata21	A	T	4: 140,839,402 (GRCm39)	D639V	probably damaging	Het
Svil	A	G	18: 5,108,631 (GRCm39)	D1519G	probably damaging	Het
Tbccd1	T	C	16: 22,660,649 (GRCm39)	T56A	probably benign	Het
Tigit	A	T	16: 43,482,380 (GRCm39)	I118N	probably damaging	Het
Tlr11	A	T	14: 50,600,342 (GRCm39)	Q776L	possibly damaging	Het
Tspan12	A	C	6: 21,835,448 (GRCm39)	I9S	possibly damaging	Het
Unc5c	T	A	3: 141,494,727 (GRCm39)	Y347N	probably damaging	Het
Unk	A	G	11: 115,945,771 (GRCm39)	T481A	probably benign	Het
Vmn1r192	A	C	13: 22,371,650 (GRCm39)	V190G	probably damaging	Het
Vnn3	A	T	10: 23,740,473 (GRCm39)	M259L	probably benign	Het
Zan	T	C	5: 137,406,632 (GRCm39)		probably benign	Het
Zdhhc6	T	C	19: 55,301,642 (GRCm39)	H113R	probably 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
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
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'- GGTTCCAGTCAAATGGTATGTC -3'
(R):5'- CCAGGCTCCTATCTCAGAGATG -3'

Sequencing Primer
(F):5'- TGGTATGTCCAGACACATCACTG -3'
(R):5'- GAGATGACTCTAGTTAAGCCCTC -3'

Posted On

2016-04-15