Incidental Mutation 'R0602:Sgca'
ID 55501
Institutional Source Beutler Lab
Gene Symbol Sgca
Ensembl Gene ENSMUSG00000001508
Gene Name sarcoglycan, alpha (dystrophin-associated glycoprotein)
Synonyms 50DAG, adhalin, Asg
MMRRC Submission 038791-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R0602 (G1)
Quality Score 209
Status Validated
Chromosome 11
Chromosomal Location 94853617-94867153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94854061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 383 (I383N)
Ref Sequence ENSEMBL: ENSMUSP00000130617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038928] [ENSMUST00000100551] [ENSMUST00000103162] [ENSMUST00000139855] [ENSMUST00000166320]
AlphaFold P82350
Predicted Effect probably benign
Transcript: ENSMUST00000038928
SMART Domains Protein: ENSMUSP00000039866
Gene: ENSMUSG00000038994

DomainStartEndE-ValueType
Pfam:Linker_histone 35 106 5.9e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100551
AA Change: I383N

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: I383N

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000103162
AA Change: I383N

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: I383N

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000139855
AA Change: I136N

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117637
Gene: ENSMUSG00000001508
AA Change: I136N

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 1 140 2.1e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158779
Predicted Effect possibly damaging
Transcript: ENSMUST00000166320
AA Change: I383N

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: I383N

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Meta Mutation Damage Score 0.5699 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.1%
  • 10x: 97.5%
  • 20x: 94.7%
Validation Efficiency 95% (58/61)
MGI Phenotype FUNCTION: This gene encodes a member of the sarcoglycan alpha/epsilon family of transmembrane proteins. The encoded protein is part of the dystrophin-glycoprotein complex which links the extracellular matrix to the cytoskeleton in muscle fibers. Disruption of this gene results in progressive muscular dystrophy and is associated with the development of embryonal rhabdomysarcoma. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene results in muscle abnormalities, with decreased skeletal muscle force and stiffness and muscular dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik T C 7: 136,978,090 (GRCm39) probably benign Het
Arih1 A G 9: 59,302,154 (GRCm39) probably benign Het
Bcl9 T C 3: 97,113,102 (GRCm39) I1118V probably benign Het
Cap1 T C 4: 122,766,202 (GRCm39) E12G probably damaging Het
Ccdc168 T A 1: 44,099,127 (GRCm39) K657I possibly damaging Het
Ccr2 A G 9: 123,906,658 (GRCm39) I313V probably benign Het
Cd1d2 T C 3: 86,895,110 (GRCm39) S161P probably benign Het
Cd226 C T 18: 89,287,135 (GRCm39) T311I probably benign Het
Col25a1 A G 3: 130,369,063 (GRCm39) probably null Het
Cspg4 T C 9: 56,795,301 (GRCm39) F1012S probably damaging Het
Dnah7b A G 1: 46,364,002 (GRCm39) M3541V probably damaging Het
Erbb2 G A 11: 98,325,097 (GRCm39) V852M probably damaging Het
Fer1l6 A C 15: 58,449,794 (GRCm39) T667P probably damaging Het
Gal3st2c A G 1: 93,936,901 (GRCm39) Y282C probably damaging Het
Glp1r T C 17: 31,128,201 (GRCm39) L60P probably benign Het
Gtf2h2 A G 13: 100,605,533 (GRCm39) V358A probably benign Het
H2ac18 T C 3: 96,152,866 (GRCm39) probably benign Het
Hephl1 T A 9: 15,000,347 (GRCm39) I302F probably damaging Het
Lgi2 T C 5: 52,711,765 (GRCm39) D185G probably damaging Het
Lrtm1 T C 14: 28,744,179 (GRCm39) probably benign Het
Megf10 T G 18: 57,395,172 (GRCm39) D511E probably damaging Het
Myo5c A G 9: 75,173,478 (GRCm39) probably null Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nrm C A 17: 36,175,156 (GRCm39) Y61* probably null Het
Ola1 A G 2: 72,924,056 (GRCm39) Y368H probably damaging Het
Or52s1 A C 7: 102,861,787 (GRCm39) H229P possibly damaging Het
Or9i1b A G 19: 13,897,145 (GRCm39) T254A probably benign Het
Or9q2 T C 19: 13,772,026 (GRCm39) probably null Het
Panx1 A G 9: 14,921,500 (GRCm39) L125P probably damaging Het
Pappa2 A G 1: 158,590,625 (GRCm39) probably benign Het
Parp6 A G 9: 59,556,648 (GRCm39) probably benign Het
Pomgnt2 A G 9: 121,811,339 (GRCm39) Y481H probably benign Het
Ppp4c A G 7: 126,388,254 (GRCm39) probably benign Het
Prl8a8 T A 13: 27,692,533 (GRCm39) probably benign Het
Prpf40b C A 15: 99,202,352 (GRCm39) A70E unknown Het
Ptgfr G A 3: 151,540,839 (GRCm39) T223M probably damaging Het
Ptprc C T 1: 138,017,223 (GRCm39) probably benign Het
Rgs22 T C 15: 36,140,018 (GRCm39) probably benign Het
Rpgrip1 A G 14: 52,371,313 (GRCm39) E344G possibly damaging Het
Sgms2 T A 3: 131,118,756 (GRCm39) probably null Het
Slc9b1 C A 3: 135,103,516 (GRCm39) Q549K probably benign Het
Smc4 G C 3: 68,916,871 (GRCm39) A187P probably damaging Het
Smco1 A G 16: 32,092,062 (GRCm39) S47G probably damaging Het
Sobp T A 10: 42,898,385 (GRCm39) E400V probably damaging Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Stil T A 4: 114,881,620 (GRCm39) probably benign Het
Sult3a2 A T 10: 33,658,044 (GRCm39) M23K probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tcof1 C A 18: 60,966,605 (GRCm39) G329W probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Vmn1r171 G T 7: 23,332,602 (GRCm39) V276L probably benign Het
Vps13b T C 15: 35,422,514 (GRCm39) L158P probably damaging Het
Vps54 A G 11: 21,256,434 (GRCm39) I634M possibly damaging Het
Vwa8 T G 14: 79,258,060 (GRCm39) S736R probably benign Het
Other mutations in Sgca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Sgca APN 11 94,863,113 (GRCm39) missense probably damaging 1.00
IGL01479:Sgca APN 11 94,854,204 (GRCm39) nonsense probably null
IGL02153:Sgca APN 11 94,854,110 (GRCm39) missense probably damaging 1.00
IGL02713:Sgca APN 11 94,862,131 (GRCm39) missense probably damaging 1.00
IGL02928:Sgca APN 11 94,863,129 (GRCm39) missense probably damaging 1.00
IGL03185:Sgca APN 11 94,861,610 (GRCm39) missense probably benign 0.00
R0834:Sgca UTSW 11 94,861,512 (GRCm39) nonsense probably null
R1547:Sgca UTSW 11 94,860,259 (GRCm39) missense probably damaging 1.00
R1703:Sgca UTSW 11 94,860,217 (GRCm39) missense probably damaging 0.97
R4110:Sgca UTSW 11 94,863,396 (GRCm39) missense possibly damaging 0.63
R4112:Sgca UTSW 11 94,863,396 (GRCm39) missense possibly damaging 0.63
R4796:Sgca UTSW 11 94,861,553 (GRCm39) splice site probably null
R5301:Sgca UTSW 11 94,854,157 (GRCm39) missense probably damaging 1.00
R6301:Sgca UTSW 11 94,863,393 (GRCm39) missense probably damaging 1.00
R6347:Sgca UTSW 11 94,862,854 (GRCm39) missense probably damaging 1.00
R6510:Sgca UTSW 11 94,854,058 (GRCm39) missense probably benign 0.36
R7110:Sgca UTSW 11 94,854,227 (GRCm39) critical splice acceptor site probably null
R7121:Sgca UTSW 11 94,860,373 (GRCm39) missense possibly damaging 0.64
R7197:Sgca UTSW 11 94,864,014 (GRCm39) splice site probably null
R7496:Sgca UTSW 11 94,862,070 (GRCm39) missense possibly damaging 0.94
R8383:Sgca UTSW 11 94,863,068 (GRCm39) missense probably benign 0.00
Z1177:Sgca UTSW 11 94,860,340 (GRCm39) missense possibly damaging 0.55
Z1177:Sgca UTSW 11 94,860,339 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TTGGCAGTTGTGGCACAGTTCC -3'
(R):5'- TTTGAGTGTCCCAGCAACCAGACC -3'

Sequencing Primer
(F):5'- GACCCCAGCCTTGAGATAAA -3'
(R):5'- GCTAATTCCAAGAGCTGATGGTC -3'
Posted On 2013-07-11