Incidental Mutation 'IGL03374:Sgce'
ID420420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgce
Ensembl Gene ENSMUSG00000004631
Gene Namesarcoglycan, epsilon
Synonymse-SG
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.510) question?
Stock #IGL03374
Quality Score
Status
Chromosome6
Chromosomal Location4674350-4747207 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 4689718 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 372 (R372*)
Ref Sequence ENSEMBL: ENSMUSP00000121964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004750] [ENSMUST00000090686] [ENSMUST00000101677] [ENSMUST00000115577] [ENSMUST00000115579] [ENSMUST00000126151] [ENSMUST00000133306]
Predicted Effect probably null
Transcript: ENSMUST00000004750
AA Change: R363*
SMART Domains Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: R363*

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000090686
AA Change: R363*
SMART Domains Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: R363*

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000101677
AA Change: R363*
SMART Domains Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: R363*

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 421 432 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115577
AA Change: R408*
SMART Domains Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: R408*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000115579
AA Change: R372*
SMART Domains Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: R372*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
CADG 32 140 1.86e-10 SMART
low complexity region 395 406 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000126151
AA Change: R331*
SMART Domains Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: R331*

DomainStartEndE-ValueType
CADG 26 134 1.86e-10 SMART
low complexity region 389 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128109
Predicted Effect probably null
Transcript: ENSMUST00000133306
AA Change: R372*
SMART Domains Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: R372*

DomainStartEndE-ValueType
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: ENSMUST00000153284
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,171,848 R917Q probably damaging Het
Atl1 T C 12: 69,955,367 Y367H probably damaging Het
AW551984 T C 9: 39,599,766 E175G possibly damaging Het
Cacna2d1 T A 5: 16,356,823 D800E probably damaging Het
Cdon T A 9: 35,478,003 F801L possibly damaging Het
D10Wsu102e G A 10: 83,365,707 V115M probably damaging Het
Dcaf13 C T 15: 39,145,148 Q382* probably null Het
Dpy19l3 T C 7: 35,712,208 N367S possibly damaging Het
F11 A G 8: 45,261,074 S3P possibly damaging Het
Fam160a2 T C 7: 105,383,951 E57G probably damaging Het
Fryl A T 5: 73,110,281 probably benign Het
Gcnt3 A T 9: 70,034,413 M291K possibly damaging Het
Glg1 T C 8: 111,162,780 D927G probably damaging Het
Gm5862 C A 5: 26,019,512 R153L probably damaging Het
Gucy2c T C 6: 136,765,630 T237A probably benign Het
Helz A T 11: 107,620,147 I610F probably damaging Het
Hpd T C 5: 123,172,045 E372G probably damaging Het
Hsd17b13 A G 5: 103,977,098 probably benign Het
Klhl32 G A 4: 24,649,533 probably benign Het
Krt74 T A 15: 101,760,502 noncoding transcript Het
Olfr1015 T C 2: 85,785,709 L66P probably damaging Het
Olfr304 T A 7: 86,386,366 Q98L probably damaging Het
Phyhipl A G 10: 70,565,279 V163A possibly damaging Het
Pknox2 T A 9: 36,923,670 T168S probably damaging Het
Pmfbp1 T C 8: 109,542,414 probably benign Het
Stard5 T C 7: 83,636,772 S102P possibly damaging Het
Syne2 A G 12: 76,074,586 K5941R possibly damaging Het
Tas2r124 A T 6: 132,755,118 H130L probably benign Het
Ttn T C 2: 76,715,683 E32462G probably damaging Het
Ube2d3 A G 3: 135,460,083 probably null Het
Vps13d G T 4: 145,108,575 H1561Q possibly damaging Het
Zcchc11 T C 4: 108,558,777 S1647P probably damaging Het
Other mutations in Sgce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Sgce APN 6 4689750 missense probably damaging 1.00
IGL01399:Sgce APN 6 4746997 missense probably damaging 1.00
IGL01796:Sgce APN 6 4711326 missense probably damaging 1.00
IGL02403:Sgce APN 6 4694059 missense probably damaging 1.00
IGL02421:Sgce APN 6 4694187 splice site probably benign
IGL02547:Sgce APN 6 4711301 splice site probably benign
IGL02585:Sgce APN 6 4711388 splice site probably benign
IGL03355:Sgce APN 6 4689738 missense probably damaging 1.00
PIT4445001:Sgce UTSW 6 4689654 missense possibly damaging 0.85
R0345:Sgce UTSW 6 4718019 missense probably damaging 1.00
R0611:Sgce UTSW 6 4689621 missense probably damaging 1.00
R0719:Sgce UTSW 6 4689753 missense probably damaging 1.00
R1162:Sgce UTSW 6 4691419 splice site probably benign
R1630:Sgce UTSW 6 4719476 missense probably damaging 0.98
R1694:Sgce UTSW 6 4689709 missense probably damaging 1.00
R1759:Sgce UTSW 6 4689765 missense probably damaging 1.00
R1897:Sgce UTSW 6 4691511 missense probably benign 0.00
R2231:Sgce UTSW 6 4730066 missense probably benign 0.44
R3429:Sgce UTSW 6 4730008 missense probably benign 0.01
R4011:Sgce UTSW 6 4691563 nonsense probably null
R4426:Sgce UTSW 6 4691459 missense probably damaging 0.97
R4427:Sgce UTSW 6 4691459 missense probably damaging 0.97
R4651:Sgce UTSW 6 4689560 intron probably benign
R4652:Sgce UTSW 6 4689560 intron probably benign
R4921:Sgce UTSW 6 4694153 missense probably damaging 1.00
R4974:Sgce UTSW 6 4689630 missense probably benign 0.00
R6271:Sgce UTSW 6 4730015 missense possibly damaging 0.81
R6898:Sgce UTSW 6 4689666 missense probably damaging 1.00
R7317:Sgce UTSW 6 4691615 missense probably benign 0.00
R7347:Sgce UTSW 6 4694106 missense probably damaging 1.00
R7512:Sgce UTSW 6 4707192 missense possibly damaging 0.75
R7671:Sgce UTSW 6 4691564 missense probably damaging 1.00
R8009:Sgce UTSW 6 4691636 missense probably damaging 0.99
X0026:Sgce UTSW 6 4689638 missense probably benign 0.41
Posted On2016-08-02