Incidental Mutation 'PIT4445001:Sgce'
ID 555401
Institutional Source Beutler Lab
Gene Symbol Sgce
Ensembl Gene ENSMUSG00000004631
Gene Name sarcoglycan, epsilon
Synonyms e-SG
Accession Numbers
Essential gene? Possibly essential (E-score: 0.557) question?
Stock # PIT4445001 (G1)
Quality Score 135.008
Status Not validated
Chromosome 6
Chromosomal Location 4674350-4747180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4689654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 429 (V429A)
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 damaging
Transcript: ENSMUST00000004750
AA Change: V384A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000004750
Gene: ENSMUSG00000004631
AA Change: V384A

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090686
AA Change: V384A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088185
Gene: ENSMUSG00000004631
AA Change: V384A

DomainStartEndE-ValueType
CADG 49 157 1.86e-10 SMART
low complexity region 412 423 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000101677
AA Change: V384A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099200
Gene: ENSMUSG00000004631
AA Change: V384A

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: V429A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111240
Gene: ENSMUSG00000004631
AA Change: V429A

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 possibly damaging
Transcript: ENSMUST00000115579
AA Change: V393A

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111242
Gene: ENSMUSG00000004631
AA Change: V393A

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 possibly damaging
Transcript: ENSMUST00000126151
AA Change: V352A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120718
Gene: ENSMUSG00000004631
AA Change: V352A

DomainStartEndE-ValueType
CADG 26 134 1.86e-10 SMART
low complexity region 389 400 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000133306
AA Change: V393A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121964
Gene: ENSMUSG00000004631
AA Change: V393A

DomainStartEndE-ValueType
CADG 26 134 1.86e-10 SMART
low complexity region 398 409 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,966,377 (GRCm39) K419E probably damaging Het
Adam7 T A 14: 68,747,197 (GRCm39) K587N possibly damaging Het
Agl T C 3: 116,565,109 (GRCm39) M382V Het
Agpat3 A T 10: 78,109,927 (GRCm39) F341I possibly damaging Het
Ampd2 A T 3: 107,982,328 (GRCm39) L767Q probably damaging Het
Arhgap28 A T 17: 68,203,230 (GRCm39) D124E possibly damaging Het
Arhgap32 T C 9: 32,172,152 (GRCm39) L1644P probably damaging Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm39) N75I probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
Atp8a1 A G 5: 67,780,003 (GRCm39) V1145A Het
Ccdc171 A G 4: 83,579,984 (GRCm39) Q577R probably damaging Het
Cd247 T A 1: 165,688,605 (GRCm39) D154E probably damaging Het
Ceacam1 A T 7: 25,175,881 (GRCm39) N104K probably damaging Het
Chfr A G 5: 110,299,543 (GRCm39) D312G possibly damaging Het
Ddb1 C A 19: 10,603,334 (GRCm39) L881I probably damaging Het
Dgkh A T 14: 78,813,382 (GRCm39) I1032N possibly damaging Het
Efcab6 A T 15: 83,788,468 (GRCm39) V942D probably benign Het
Fmo5 A G 3: 97,558,844 (GRCm39) T435A probably benign Het
Fpr1 T C 17: 18,097,155 (GRCm39) Q278R probably benign Het
Fzr1 C T 10: 81,205,228 (GRCm39) W256* probably null Het
Gabrb1 T C 5: 72,266,125 (GRCm39) S261P probably damaging Het
Galr2 G T 11: 116,172,474 (GRCm39) A55S probably benign Het
Gbp2 A T 3: 142,343,227 (GRCm39) K581N probably benign Het
Gria1 A T 11: 57,076,664 (GRCm39) Y89F probably damaging Het
Ibsp T A 5: 104,450,170 (GRCm39) I26N possibly damaging Het
Igf1r T C 7: 67,857,211 (GRCm39) F1058L probably damaging Het
Ighv1-16 A C 12: 114,629,680 (GRCm39) C36G probably benign Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Ilkap T C 1: 91,313,067 (GRCm39) T143A probably benign Het
Kdm3b A T 18: 34,926,168 (GRCm39) K103* probably null Het
Mphosph9 A G 5: 124,436,853 (GRCm39) I497T possibly damaging Het
Mrgpra3 G A 7: 47,239,908 (GRCm39) T6I possibly damaging Het
Mrpl38 T C 11: 116,023,384 (GRCm39) probably null Het
Myo3a A T 2: 22,434,457 (GRCm39) E813V possibly damaging Het
Myo7b T C 18: 32,095,405 (GRCm39) K1851R probably damaging Het
Myo7b G T 18: 32,092,519 (GRCm39) Q2093K possibly damaging Het
P3h2 T A 16: 25,803,749 (GRCm39) D339V probably benign Het
Pcdhb6 C A 18: 37,468,300 (GRCm39) P407Q possibly damaging Het
Plch2 C A 4: 155,093,483 (GRCm39) R153L probably damaging Het
Plppr4 G A 3: 117,153,957 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,717,776 (GRCm39) F1046S probably damaging Het
Pramel41 T G 5: 94,596,366 (GRCm39) W468G probably benign Het
Prkacb A T 3: 146,461,446 (GRCm39) L107M probably benign Het
Ranbp17 A G 11: 33,431,020 (GRCm39) probably null Het
Rasl11b C A 5: 74,357,994 (GRCm39) P88Q probably damaging Het
Rcc2 A G 4: 140,448,460 (GRCm39) E503G possibly damaging Het
Rnf216 T A 5: 143,071,758 (GRCm39) K407N probably damaging Het
Rusf1 A G 7: 127,875,706 (GRCm39) V243A probably benign Het
Scrn3 G A 2: 73,148,673 (GRCm39) M81I possibly damaging Het
Scube2 T C 7: 109,408,387 (GRCm39) T687A probably benign Het
Serpinb10 T A 1: 107,463,728 (GRCm39) F3L probably benign Het
Sgcb C T 5: 73,797,155 (GRCm39) V202I probably damaging Het
Sh3rf2 T C 18: 42,286,229 (GRCm39) V574A probably benign Het
Sncaip T C 18: 53,002,016 (GRCm39) L179S probably damaging Het
Sntg2 A T 12: 30,362,571 (GRCm39) D58E probably damaging Het
Taar3 T C 10: 23,825,586 (GRCm39) I44T possibly damaging Het
Tmem87b G A 2: 128,673,391 (GRCm39) V227I probably benign Het
Tnfsf9 T C 17: 57,412,517 (GRCm39) L29P possibly damaging Het
Tnip2 T C 5: 34,654,215 (GRCm39) H391R probably benign Het
Traf5 A G 1: 191,729,768 (GRCm39) Y125H Het
Ttc23 T G 7: 67,316,961 (GRCm39) I77M probably damaging Het
Ube2l3 T C 16: 16,978,036 (GRCm39) N43S probably benign Het
Vars2 A T 17: 35,977,103 (GRCm39) C142* probably null Het
Vmn2r15 A C 5: 109,435,008 (GRCm39) D565E probably damaging Het
Vmn2r56 C T 7: 12,449,153 (GRCm39) probably null Het
Vmn2r79 A T 7: 86,651,408 (GRCm39) D269V possibly damaging Het
Vmn2r85 A T 10: 130,261,572 (GRCm39) M255K probably benign Het
Wfdc6a T A 2: 164,421,746 (GRCm39) *137C probably null Het
Wipi2 T C 5: 142,652,639 (GRCm39) V417A probably benign Het
Xirp2 G T 2: 67,340,116 (GRCm39) V786L possibly damaging Het
Zdhhc13 G A 7: 48,445,697 (GRCm39) G26S probably benign Het
Zscan25 T A 5: 145,227,422 (GRCm39) V362D 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
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
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'- TACATTTCTGTCAAGCCAAGTGATG -3'
(R):5'- ACTCATTACGGCTAGTGCGTC -3'

Sequencing Primer
(F):5'- CAAGCCAAGTGATGATATTTTGACAC -3'
(R):5'- GGCTAGTGCGTCATTTTAAATATATG -3'
Posted On 2019-06-07