Incidental Mutation 'R4974:Sgce'
ID 382480
Institutional Source Beutler Lab
Gene Symbol Sgce
Ensembl Gene ENSMUSG00000004631
Gene Name sarcoglycan, epsilon
Synonyms e-SG
MMRRC Submission 042569-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R4974 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 4674350-4747180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4689630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 401 (T401M)
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
AA Change: T392M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: T392M

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090686
AA Change: T392M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: T392M

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101677
AA Change: T392M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: T392M

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 421 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115577
AA Change: T437M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: T437M

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 benign
Transcript: ENSMUST00000115579
AA Change: T401M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: T401M

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 benign
Transcript: ENSMUST00000126151
AA Change: T360M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: T360M

DomainStartEndE-ValueType
CADG 26 134 1.86e-10 SMART
low complexity region 389 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130428
AA Change: R24C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153284
Predicted Effect probably benign
Transcript: ENSMUST00000133306
AA Change: T401M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: T401M

DomainStartEndE-ValueType
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: ENSMUST00000139029
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 97% (94/97)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik C T 14: 55,797,574 (GRCm39) probably benign Het
Acsf2 A C 11: 94,460,155 (GRCm39) M399R possibly damaging Het
Adra2c C A 5: 35,438,268 (GRCm39) R347S probably benign Het
Akap9 A G 5: 4,011,466 (GRCm39) K723R possibly damaging Het
Anxa9 A C 3: 95,215,324 (GRCm39) probably benign Het
Aqr T C 2: 113,943,832 (GRCm39) H1102R probably damaging Het
Armh3 A T 19: 45,808,726 (GRCm39) F655Y probably damaging Het
Arrdc2 A G 8: 71,290,162 (GRCm39) V173A probably benign Het
Aspm T C 1: 139,405,748 (GRCm39) V1545A probably benign Het
Bbs5 C T 2: 69,477,578 (GRCm39) probably benign Het
Bnip2 A G 9: 69,910,716 (GRCm39) T255A possibly damaging Het
Cacna1b T C 2: 24,538,535 (GRCm39) T1531A probably damaging Het
Cast T C 13: 74,955,942 (GRCm39) K9R probably benign Het
Cfap46 A T 7: 139,187,104 (GRCm39) probably null Het
Cfap57 G T 4: 118,450,251 (GRCm39) L624M probably damaging Het
Cyp2c39 A T 19: 39,552,323 (GRCm39) M339L probably benign Het
Dcst1 T A 3: 89,265,110 (GRCm39) T247S probably benign Het
Dnajc18 T A 18: 35,816,372 (GRCm39) I189F possibly damaging Het
Eef2kmt T C 16: 5,066,876 (GRCm39) T126A probably benign Het
Epha2 A G 4: 141,049,016 (GRCm39) E624G probably damaging Het
Erbb3 G A 10: 128,408,317 (GRCm39) H866Y probably benign Het
F13a1 C T 13: 37,100,837 (GRCm39) probably null Het
Fgd3 T A 13: 49,432,078 (GRCm39) N392I probably damaging Het
Fgf7 A T 2: 125,930,160 (GRCm39) M98L probably benign Het
G2e3 T A 12: 51,415,922 (GRCm39) S553T probably benign Het
Glipr1 C A 10: 111,829,411 (GRCm39) E117* probably null Het
Gm11060 A T 2: 104,924,128 (GRCm39) probably benign Het
Gm4787 A G 12: 81,424,403 (GRCm39) I585T probably damaging Het
Gm6055 A T 14: 48,316,915 (GRCm39) noncoding transcript Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gpt2 T A 8: 86,246,068 (GRCm39) probably benign Het
Gtf2ird1 A T 5: 134,386,685 (GRCm39) Y345* probably null Het
Hmcn1 T A 1: 150,695,200 (GRCm39) T235S probably benign Het
Igkv5-48 A G 6: 69,703,738 (GRCm39) Y56H possibly damaging Het
Il17re C T 6: 113,446,530 (GRCm39) T427I probably benign Het
Itpr3 A T 17: 27,302,582 (GRCm39) D80V probably damaging Het
Kif21a G T 15: 90,833,213 (GRCm39) H1317N probably benign Het
Kif28 T C 1: 179,526,209 (GRCm39) K144E probably damaging Het
Kif4-ps A C 12: 101,113,330 (GRCm39) noncoding transcript Het
Klk1b11 C T 7: 43,427,160 (GRCm39) T148I probably damaging Het
Klkb1 T A 8: 45,739,995 (GRCm39) H99L probably damaging Het
Kpna6 A C 4: 129,550,198 (GRCm39) probably null Het
Lama3 G T 18: 12,685,883 (GRCm39) K1132N probably damaging Het
Lcp1 T A 14: 75,445,911 (GRCm39) L264* probably null Het
Map2 T C 1: 66,452,664 (GRCm39) V360A probably benign Het
Med13 A T 11: 86,189,673 (GRCm39) S1079T probably damaging Het
Mettl13 A G 1: 162,364,789 (GRCm39) M162T probably damaging Het
Mppe1 T G 18: 67,361,133 (GRCm39) E208A probably benign Het
Msantd2 A C 9: 37,400,675 (GRCm39) K19T possibly damaging Het
Mylk3 A G 8: 86,091,412 (GRCm39) V131A probably damaging Het
Myocd A T 11: 65,074,299 (GRCm39) S609T possibly damaging Het
Ncbp3 G A 11: 72,944,355 (GRCm39) probably null Het
Neb T A 2: 52,136,871 (GRCm39) L3203F probably damaging Het
Notch2 C A 3: 98,046,949 (GRCm39) T1756K probably benign Het
Nphp4 A T 4: 152,622,250 (GRCm39) R544W probably damaging Het
Or3a1c A T 11: 74,046,745 (GRCm39) Y255F probably benign Het
Or4p18 T G 2: 88,232,756 (GRCm39) H174P probably damaging Het
Or5c1 A T 2: 37,222,578 (GRCm39) D273V probably damaging Het
Parp4 T A 14: 56,827,355 (GRCm39) V163E possibly damaging Het
Pcdhgb1 C A 18: 37,815,425 (GRCm39) Q639K probably benign Het
Pcnx2 A G 8: 126,577,869 (GRCm39) V936A probably benign Het
Pcsk7 T A 9: 45,830,160 (GRCm39) M418K probably damaging Het
Pglyrp4 T C 3: 90,640,314 (GRCm39) I188T probably benign Het
Pgs1 A G 11: 117,896,345 (GRCm39) R339G probably benign Het
Pik3r3 A G 4: 116,143,388 (GRCm39) I294V probably benign Het
Pik3r6 A G 11: 68,430,771 (GRCm39) D520G probably damaging Het
Pkdrej A G 15: 85,704,610 (GRCm39) V442A probably benign Het
Ppfibp1 T A 6: 146,931,917 (GRCm39) probably benign Het
Ppp3ca C A 3: 136,640,810 (GRCm39) Q454K possibly damaging Het
Ppp5c A T 7: 16,743,861 (GRCm39) M191K probably damaging Het
Prl4a1 A T 13: 28,207,308 (GRCm39) Y194F possibly damaging Het
Ptpn21 G T 12: 98,646,362 (GRCm39) T1032K probably damaging Het
Ptprh A T 7: 4,554,006 (GRCm39) probably null Het
Ptprm T A 17: 66,985,062 (GRCm39) R1447S probably benign Het
Pxk T A 14: 8,140,734 (GRCm38) D236E probably damaging Het
Qars1 T C 9: 108,386,130 (GRCm39) F107S probably damaging Het
Rbbp6 A G 7: 122,599,031 (GRCm39) probably benign Het
Rptor A T 11: 119,712,466 (GRCm39) probably benign Het
Rtn4 T A 11: 29,690,994 (GRCm39) M1095K probably damaging Het
Serpinb3b T A 1: 107,082,445 (GRCm39) H273L probably benign Het
Slc12a6 C T 2: 112,188,870 (GRCm39) R1083W probably damaging Het
Slc45a4 A T 15: 73,456,299 (GRCm39) M635K probably damaging Het
Slc6a1 T A 6: 114,284,662 (GRCm39) V240D probably damaging Het
Snx9 G A 17: 5,952,794 (GRCm39) probably null Het
Spred3 A G 7: 28,867,249 (GRCm39) V49A probably damaging Het
Tars1 A G 15: 11,390,477 (GRCm39) F334S probably damaging Het
Tdpoz1 A G 3: 93,578,454 (GRCm39) V110A probably benign Het
Tfrc T G 16: 32,437,097 (GRCm39) V252G probably damaging Het
Tm6sf2 T C 8: 70,528,128 (GRCm39) probably benign Het
Txlnb T C 10: 17,714,717 (GRCm39) V383A probably damaging Het
Utp20 C A 10: 88,652,811 (GRCm39) V368L probably benign Het
Vmn2r12 A T 5: 109,239,372 (GRCm39) V397E probably damaging Het
Zdhhc12 G A 2: 29,981,538 (GRCm39) R175W probably damaging Het
Zfyve9 A G 4: 108,538,097 (GRCm39) probably null Het
Other mutations in Sgce
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4921:Sgce UTSW 6 4,694,153 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-04-27