Incidental Mutation 'R6898:Sgce'
ID 538448
Institutional Source Beutler Lab
Gene Symbol Sgce
Ensembl Gene ENSMUSG00000004631
Gene Name sarcoglycan, epsilon
Synonyms e-SG
MMRRC Submission 044992-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # R6898 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 4674350-4747180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4689666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 389 (V389E)
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: V380E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: V380E

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090686
AA Change: V380E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: V380E

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101677
AA Change: V380E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: V380E

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 421 432 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115577
AA Change: V425E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: V425E

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 damaging
Transcript: ENSMUST00000115579
AA Change: V389E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: V389E

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 damaging
Transcript: ENSMUST00000126151
AA Change: V348E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: V348E

DomainStartEndE-ValueType
CADG 26 134 1.86e-10 SMART
low complexity region 389 400 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133306
AA Change: V389E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: V389E

DomainStartEndE-ValueType
CADG 26 134 1.86e-10 SMART
low complexity region 398 409 N/A INTRINSIC
Meta Mutation Damage Score 0.7009 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd7 G T 6: 18,868,100 (GRCm39) probably null Het
Aoc1l2 A T 6: 48,907,975 (GRCm39) Y325F probably damaging Het
Aplnr A T 2: 84,970,155 (GRCm39) probably benign Het
Capns2 T C 8: 93,628,605 (GRCm39) S165P probably damaging Het
Col25a1 T C 3: 130,378,377 (GRCm39) probably null Het
Crocc2 T C 1: 93,143,304 (GRCm39) V1302A probably benign Het
Cul9 C A 17: 46,821,952 (GRCm39) R1841M possibly damaging Het
Dnhd1 T C 7: 105,336,584 (GRCm39) L1213P probably damaging Het
Dscam A T 16: 96,631,100 (GRCm39) I305K probably benign Het
Dsp A G 13: 38,376,193 (GRCm39) E1326G possibly damaging Het
Eif4a3l1 T A 6: 136,305,617 (GRCm39) V26E probably benign Het
Emc9 A G 14: 55,822,367 (GRCm39) probably null Het
Eppk1 A C 15: 75,996,126 (GRCm39) S252A probably benign Het
Fn1 T A 1: 71,639,572 (GRCm39) T1830S probably damaging Het
Fryl A T 5: 73,179,485 (GRCm39) M2974K probably damaging Het
Gdpd3 C A 7: 126,370,201 (GRCm39) S250* probably null Het
Gnl3 A T 14: 30,735,136 (GRCm39) S485R probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hsd17b3 T C 13: 64,207,339 (GRCm39) Y234C probably benign Het
Lima1 T C 15: 99,679,148 (GRCm39) H271R possibly damaging Het
Nfu1 G A 6: 86,994,034 (GRCm39) probably null Het
Noto A G 6: 85,404,942 (GRCm39) E97G probably damaging Het
Ntng1 T C 3: 109,779,534 (GRCm39) K348E probably damaging Het
Or2y13 G A 11: 49,414,536 (GRCm39) probably benign Het
Or4a70 C T 2: 89,324,594 (GRCm39) G21R possibly damaging Het
Osmr C A 15: 6,845,364 (GRCm39) V801F probably damaging Het
Papln A G 12: 83,824,234 (GRCm39) E554G probably benign Het
Pitrm1 T C 13: 6,605,495 (GRCm39) L175P probably damaging Het
Pramel22 A T 4: 143,382,053 (GRCm39) N214K probably damaging Het
Pramel7 T C 2: 87,320,070 (GRCm39) T408A probably damaging Het
Serinc2 A T 4: 130,149,235 (GRCm39) D322E probably benign Het
Setx T C 2: 29,038,120 (GRCm39) V1535A probably benign Het
Snx11 G A 11: 96,659,888 (GRCm39) T267I probably benign Het
Spata6l T G 19: 28,921,688 (GRCm39) Q146P probably benign Het
Specc1 G A 11: 62,009,162 (GRCm39) S306N probably benign Het
Spocd1 A G 4: 129,850,305 (GRCm39) probably benign Het
St7 T A 6: 17,854,945 (GRCm39) V294D probably damaging Het
Stab1 C T 14: 30,880,920 (GRCm39) R624Q probably benign Het
Tcf21 T C 10: 22,695,403 (GRCm39) I134V probably benign Het
Tgfb2 T A 1: 186,364,697 (GRCm39) I266F probably damaging Het
Tgfbr3l A G 8: 4,300,365 (GRCm39) I209M possibly damaging Het
Tmcc3 A G 10: 94,387,034 (GRCm39) probably null Het
Toe1 A G 4: 116,664,671 (GRCm39) S16P probably damaging Het
Vps16 T C 2: 130,279,601 (GRCm39) V38A possibly damaging Het
Wnk2 G T 13: 49,224,557 (GRCm39) D1001E probably damaging 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
R6271:Sgce UTSW 6 4,730,015 (GRCm39) missense possibly damaging 0.81
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'- ATTTCTGTCAAGCCAAGTGATG -3'
(R):5'- AGCTAGTTTATAGAACAGCCCC -3'

Sequencing Primer
(F):5'- CAAGCCAAGTGATGATATTTTGACAC -3'
(R):5'- ATGACCTTTTCAAATAGGCAACTC -3'
Posted On 2018-11-06