Mutagenetix > Incidental Mutation

Incidental Mutation 'R1759:Sgce'

195178

Institutional Source

Beutler Lab

Gene Symbol

Sgce

Ensembl Gene

ENSMUSG00000004631

Gene Name

sarcoglycan, epsilon

Synonyms

e-SG

MMRRC Submission

039791-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R1759 (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 4689765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 356 (I356N)

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: I347N

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

SMART Domains

Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: I347N

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: I347N

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

SMART Domains

Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: I347N

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: I347N

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

SMART Domains

Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: I347N

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: I392N

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

SMART Domains

Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: I392N

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: I356N

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

SMART Domains

Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: I356N

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: I315N

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

SMART Domains

Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: I315N

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: I356N

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

SMART Domains

Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: I356N

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: 97.5%
3x: 96.9%
10x: 95.4%
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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,272 (GRCm39)	M53L	possibly damaging	Het
Abca5	T	C	11: 110,184,674 (GRCm39)	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,556,211 (GRCm39)	Y433C	probably damaging	Het
Aox3	A	G	1: 58,209,805 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,559,853 (GRCm39)	G260E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a4	T	A	16: 29,275,429 (GRCm39)	T352S	probably damaging	Het
Ccdc33	T	A	9: 58,024,729 (GRCm39)	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,743,243 (GRCm39)	D159E	probably damaging	Het
Chd1	T	A	17: 17,607,533 (GRCm39)	D360E	probably benign	Het
Col16a1	G	T	4: 129,978,062 (GRCm39)	G781V	probably damaging	Het
Col6a5	T	A	9: 105,808,045 (GRCm39)	E1001V	unknown	Het
Cracdl	A	T	1: 37,664,791 (GRCm39)	I369N	probably benign	Het
Cyp3a59	T	G	5: 146,035,060 (GRCm39)	M246R	probably benign	Het
Dcn	T	C	10: 97,349,517 (GRCm39)	V263A	probably benign	Het
Dnttip2	A	G	3: 122,069,798 (GRCm39)	N338D	probably benign	Het
Entpd1	G	T	19: 40,600,968 (GRCm39)		probably null	Het
Epb41l1	A	G	2: 156,363,894 (GRCm39)	D801G	probably benign	Het
Fam186a	T	A	15: 99,864,762 (GRCm39)	K23*	probably null	Het
Gbe1	T	C	16: 70,284,929 (GRCm39)	M417T	probably benign	Het
Gmnc	T	A	16: 26,784,497 (GRCm39)	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,768,583 (GRCm39)	S35P	probably damaging	Het
Grid1	T	C	14: 35,167,988 (GRCm39)	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,526,071 (GRCm39)	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,399 (GRCm39)	I308N	probably damaging	Het
Inpp4b	A	G	8: 82,494,732 (GRCm39)	D49G	probably benign	Het
Ipmk	C	A	10: 71,217,133 (GRCm39)	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,181,320 (GRCm39)	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,841,047 (GRCm39)	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,477,509 (GRCm39)	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,124,633 (GRCm39)		probably null	Het
Kiss1r	T	C	10: 79,757,612 (GRCm39)	L322P	probably damaging	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lrpprc	T	C	17: 85,047,509 (GRCm39)	K908E	probably damaging	Het
Mak	C	A	13: 41,210,110 (GRCm39)	W42L	probably damaging	Het
Map3k21	A	G	8: 126,671,519 (GRCm39)	T936A	probably benign	Het
Marchf7	C	T	2: 60,064,888 (GRCm39)	S388F	probably damaging	Het
Matcap1	A	T	8: 106,012,182 (GRCm39)	S88R	probably damaging	Het
Mgat2	A	T	12: 69,232,301 (GRCm39)	I292F	probably benign	Het
Myh3	C	A	11: 66,987,717 (GRCm39)	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,089,275 (GRCm39)	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,983,956 (GRCm39)	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,450,369 (GRCm39)	T43A	probably damaging	Het
Nip7	A	G	8: 107,784,767 (GRCm39)	N124S	probably benign	Het
Or3a1	G	A	11: 74,225,808 (GRCm39)	S83F	possibly damaging	Het
Or51l14	T	C	7: 103,101,356 (GRCm39)	S271P	probably benign	Het
Or6c75	T	A	10: 129,336,775 (GRCm39)	S7R	probably benign	Het
Or7g25	C	T	9: 19,160,384 (GRCm39)	V104I	probably benign	Het
Or8b55	T	C	9: 38,727,194 (GRCm39)	Y132H	probably damaging	Het
Otoa	T	C	7: 120,733,326 (GRCm39)	L731P	probably damaging	Het
Pcnx2	G	A	8: 126,500,717 (GRCm39)	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,407,224 (GRCm39)	T492A	probably damaging	Het
Pgm1	A	G	4: 99,824,305 (GRCm39)	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,119,535 (GRCm39)	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,387,922 (GRCm39)	A195T	probably damaging	Het
Ppib	C	T	9: 65,968,764 (GRCm39)	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,181,067 (GRCm39)	T13K	probably benign	Het
Psmg2	A	T	18: 67,781,246 (GRCm39)	S113C	probably benign	Het
Rapgef2	A	G	3: 78,974,038 (GRCm39)	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424 (GRCm39)	R465S	probably damaging	Het
Reln	A	G	5: 22,215,287 (GRCm39)	Y1055H	probably damaging	Het
Ros1	A	T	10: 51,996,922 (GRCm39)	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401 (GRCm39)	V1287F	probably damaging	Het
Sh3tc1	C	T	5: 35,863,248 (GRCm39)	E980K	possibly damaging	Het
Sil1	T	C	18: 35,551,151 (GRCm39)	E68G	possibly damaging	Het
Slc18a1	A	G	8: 69,518,237 (GRCm39)	I259T	possibly damaging	Het
Slc6a20b	A	C	9: 123,438,062 (GRCm39)		probably null	Het
Smg7	G	T	1: 152,724,597 (GRCm39)	T536K	probably benign	Het
Smyd4	A	G	11: 75,273,192 (GRCm39)	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,216,056 (GRCm39)	*50C	probably null	Het
Speg	A	T	1: 75,377,806 (GRCm39)	M855L	possibly damaging	Het
Srrt	G	T	5: 137,301,212 (GRCm39)	H71Q	probably damaging	Het
St6galnac5	A	G	3: 152,552,130 (GRCm39)	S146P	probably damaging	Het
Syne1	T	A	10: 5,299,369 (GRCm39)	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,566,278 (GRCm39)	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,642,765 (GRCm39)	M135I	probably benign	Het
Tpr	A	T	1: 150,305,275 (GRCm39)	E1521D	probably benign	Het
Uba3	C	T	6: 97,173,865 (GRCm39)	G107R	probably damaging	Het
Unc45b	G	T	11: 82,820,325 (GRCm39)	V590F	probably benign	Het
Vmn1r14	A	T	6: 57,211,297 (GRCm39)	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,914,755 (GRCm39)	N773K	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wfs1	G	C	5: 37,124,359 (GRCm39)	A844G	probably damaging	Het
Zfp398	A	G	6: 47,836,412 (GRCm39)	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,475,403 (GRCm39)	A145S	probably damaging	Het
Zfp971	A	T	2: 177,675,722 (GRCm39)	E440D	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
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'- TCACTGCTGTGCCTGCATCAAC -3'
(R):5'- AAAGGGCTCAAAAGCTAAGGCTACC -3'

Sequencing Primer
(F):5'- AACCTCTCCAGTTACAGGGT -3'
(R):5'- GGCAACTCATTACGGCTAGT -3'

Posted On

2014-05-23