Mutagenetix > Incidental Mutation

Incidental Mutation 'R4651:Sgce'

351283

Institutional Source

Beutler Lab

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

MMRRC Submission

041911-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R4651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4674350-4747180 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 4689560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 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

probably benign
Transcript: ENSMUST00000115577

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631

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

noncoding transcript
Transcript: ENSMUST00000153284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139029

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (98/101)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Ahnak2	T	G	12: 112,741,271 (GRCm39)	S128R	possibly damaging	Het
Ankrd26	T	C	6: 118,492,787 (GRCm39)	D1319G	probably benign	Het
Ankrd35	T	C	3: 96,591,343 (GRCm39)	V543A	probably benign	Het
Ano10	A	T	9: 122,090,181 (GRCm39)	Y377*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10b	G	A	11: 43,085,472 (GRCm39)	G284S	probably damaging	Het
Atp5f1c	A	G	2: 10,068,287 (GRCm39)	F180S	probably damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Ccnf	C	A	17: 24,450,760 (GRCm39)	R406L	probably damaging	Het
Ceacam12	A	G	7: 17,801,359 (GRCm39)	T113A	probably damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Col12a1	A	T	9: 79,520,228 (GRCm39)	D2815E	probably damaging	Het
Cpox	G	T	16: 58,491,050 (GRCm39)	R87L	possibly damaging	Het
Cttnbp2	A	G	6: 18,434,037 (GRCm39)	I607T	possibly damaging	Het
Cux1	A	T	5: 136,596,083 (GRCm39)	N4K	probably damaging	Het
Cyp3a25	T	C	5: 145,931,701 (GRCm39)	T136A	probably benign	Het
Dhx58	T	A	11: 100,592,185 (GRCm39)	N288Y	probably damaging	Het
Dnah10	T	C	5: 124,806,207 (GRCm39)	Y127H	probably benign	Het
Dnd1	G	A	18: 36,898,114 (GRCm39)		probably benign	Het
Ehmt2	C	A	17: 35,132,790 (GRCm39)	N1171K	probably damaging	Het
Fanci	T	A	7: 79,085,004 (GRCm39)	M838K	possibly damaging	Het
Flot1	T	C	17: 36,143,436 (GRCm39)		probably benign	Het
Gad2	A	T	2: 22,558,374 (GRCm39)	D364V	probably damaging	Het
Gm10375	C	A	14: 43,844,326 (GRCm39)		probably null	Het
Gm9996	T	A	10: 29,019,754 (GRCm39)		probably benign	Het
Gnat3	T	A	5: 18,220,568 (GRCm39)	L247H	probably damaging	Het
Ip6k3	C	T	17: 27,364,265 (GRCm39)	C261Y	probably damaging	Het
Irgc	C	A	7: 24,132,238 (GRCm39)	R193L	probably damaging	Het
Kalrn	G	T	16: 33,996,761 (GRCm39)	P1477Q	probably damaging	Het
Kyat1	G	T	2: 30,084,076 (GRCm39)	H15N	probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Llgl1	A	G	11: 60,599,477 (GRCm39)	D486G	possibly damaging	Het
Lrrc9	T	C	12: 72,524,160 (GRCm39)	W790R	probably damaging	Het
Lsm2	T	A	17: 35,204,571 (GRCm39)		probably benign	Het
Med8	A	T	4: 118,268,089 (GRCm39)	E5V	probably damaging	Het
Mefv	A	G	16: 3,535,682 (GRCm39)	L82P	probably damaging	Het
Mettl25b	T	C	3: 87,834,979 (GRCm39)	H107R	probably benign	Het
Mettl3	T	A	14: 52,532,549 (GRCm39)	I545F	probably damaging	Het
Naa20	CTCTAGA	C	2: 145,753,752 (GRCm39)		probably benign	Het
Ncapg2	T	A	12: 116,389,407 (GRCm39)	N342K	probably damaging	Het
Ndufaf6	T	A	4: 11,062,070 (GRCm39)	Y187F	probably damaging	Het
Nomo1	T	A	7: 45,717,866 (GRCm39)	I799N	probably damaging	Het
Obscn	G	A	11: 58,929,703 (GRCm39)	R5824C	probably damaging	Het
Or4f6	G	T	2: 111,838,595 (GRCm39)	S312Y	probably damaging	Het
Or6c214	T	C	10: 129,591,287 (GRCm39)	I11V	probably benign	Het
Or6n2	A	G	1: 173,897,394 (GRCm39)	I177V	possibly damaging	Het
Or7g30	T	A	9: 19,352,591 (GRCm39)	C127*	probably null	Het
Pgm3	T	A	9: 86,440,523 (GRCm39)	R389S	probably benign	Het
Pkd2l2	A	T	18: 34,542,889 (GRCm39)	R20*	probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppp4r3a	T	A	12: 101,049,170 (GRCm39)		probably benign	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Prrc2c	A	T	1: 162,550,843 (GRCm39)	H40Q	probably damaging	Het
Ptprk	T	C	10: 28,139,686 (GRCm39)	I137T	probably damaging	Het
Sdr42e1	T	C	8: 118,390,360 (GRCm39)	T94A	probably benign	Het
Setd2	A	G	9: 110,423,200 (GRCm39)	D2085G	possibly damaging	Het
Shisa3	A	G	5: 67,765,992 (GRCm39)	D81G	probably damaging	Het
Sipa1l1	T	A	12: 82,469,245 (GRCm39)	L1248*	probably null	Het
Skint7	T	G	4: 111,839,309 (GRCm39)	M201R	probably damaging	Het
Slc5a3	T	A	16: 91,874,090 (GRCm39)	V49E	probably benign	Het
Slc9c1	A	T	16: 45,367,756 (GRCm39)	*163L	probably null	Het
Smyd3	A	G	1: 178,871,306 (GRCm39)	Y358H	probably benign	Het
Srp68	A	T	11: 116,164,840 (GRCm39)	S31R	probably benign	Het
Stag1	T	A	9: 100,678,769 (GRCm39)	M230K	probably damaging	Het
Strc	A	T	2: 121,204,829 (GRCm39)	D985E	possibly damaging	Het
Syne2	A	G	12: 76,036,013 (GRCm39)	T3767A	probably damaging	Het
Sytl2	C	A	7: 90,024,633 (GRCm39)	P207Q	probably damaging	Het
Tbc1d2b	A	G	9: 90,089,940 (GRCm39)	F863S	probably damaging	Het
Tek	T	C	4: 94,669,121 (GRCm39)	S41P	probably damaging	Het
Top1	T	C	2: 160,554,637 (GRCm39)	Y463H	probably damaging	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Ttn	A	G	2: 76,576,979 (GRCm39)	V24638A	possibly damaging	Het
Ttn	A	G	2: 76,701,213 (GRCm39)		probably benign	Het
Tyro3	G	C	2: 119,647,349 (GRCm39)	G826A	probably benign	Het
Ube2b	A	G	11: 51,886,199 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,587 (GRCm39)	W410R	probably benign	Het
Unc45a	T	C	7: 79,982,777 (GRCm39)	K383E	possibly damaging	Het
Usp7	A	C	16: 8,516,278 (GRCm39)		probably benign	Het
Vmn1r193	C	T	13: 22,403,695 (GRCm39)	G99D	probably damaging	Het
Vrk2	T	C	11: 26,439,803 (GRCm39)	D256G	probably damaging	Het
Wdr81	A	G	11: 75,342,066 (GRCm39)	V1067A	probably damaging	Het
Wiz	C	T	17: 32,576,655 (GRCm39)	R624Q	probably damaging	Het
Zcwpw2	A	G	9: 117,843,119 (GRCm39)		noncoding transcript	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
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'- TTGGATCCTTATCAGTGTCAATTCC -3'
(R):5'- TACCAAGGAGCTTCGAGACATG -3'

Sequencing Primer
(F):5'- CCTCACATATTGATGTTGATGTGC -3'
(R):5'- GGAGCTTCGAGACATGTCCAAAAAC -3'

Posted On

2015-10-08