Incidental Mutation 'R6271:Sgce'
ID 507329
Institutional Source Beutler Lab
Gene Symbol Sgce
Ensembl Gene ENSMUSG00000004631
Gene Name sarcoglycan, epsilon
Synonyms e-SG
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 4674350-4747180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4730015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 70 (K70E)
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 benign
Transcript: ENSMUST00000004750
SMART Domains Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 421 432 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115577
AA Change: K70E

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: K70E

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
SMART Domains Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631

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
SMART Domains Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631

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 noncoding transcript
Transcript: ENSMUST00000153284
Predicted Effect probably benign
Transcript: ENSMUST00000133306
SMART Domains Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631

DomainStartEndE-ValueType
CADG 26 134 1.86e-10 SMART
low complexity region 398 409 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139029
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign 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
R4974:Sgce UTSW 6 4,689,630 (GRCm39) missense probably benign 0.00
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'- AGTAAGCACACGTGAATGGTTC -3'
(R):5'- CTGAGAAGATGTAGTCTGAGCC -3'

Sequencing Primer
(F):5'- GCACACGTGAATGGTTCTATAAGTG -3'
(R):5'- GTCTGAGCCAAGTTAACAGTAAC -3'
Posted On 2018-03-15