Incidental Mutation 'R1547:Sgca'
ID 172280
Institutional Source Beutler Lab
Gene Symbol Sgca
Ensembl Gene ENSMUSG00000001508
Gene Name sarcoglycan, alpha (dystrophin-associated glycoprotein)
Synonyms 50DAG, adhalin, Asg
MMRRC Submission 039586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R1547 (G1)
Quality Score 141
Status Not validated
Chromosome 11
Chromosomal Location 94853617-94867153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94860259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 46 (T46A)
Ref Sequence ENSEMBL: ENSMUSP00000117637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038928] [ENSMUST00000100551] [ENSMUST00000103162] [ENSMUST00000139855] [ENSMUST00000152042] [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 probably damaging
Transcript: ENSMUST00000100551
AA Change: T293A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: T293A

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103162
AA Change: T293A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: T293A

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139855
AA Change: T46A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117637
Gene: ENSMUSG00000001508
AA Change: T46A

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 1 140 2.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152042
SMART Domains Protein: ENSMUSP00000118455
Gene: ENSMUSG00000001508

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 6 100 5.9e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166320
AA Change: T293A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: T293A

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.3%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A C 12: 21,403,958 (GRCm39) V96G probably damaging Het
Adam5 G T 8: 25,300,729 (GRCm39) Q267K probably benign Het
Adamts6 A G 13: 104,581,383 (GRCm39) T833A probably benign Het
Ago4 C T 4: 126,405,206 (GRCm39) E456K probably benign Het
Anapc1 T C 2: 128,459,476 (GRCm39) Q1861R probably benign Het
Apob A T 12: 8,053,368 (GRCm39) D1270V probably benign Het
Arb2a T C 13: 77,973,509 (GRCm39) probably null Het
Arhgef11 T A 3: 87,602,709 (GRCm39) I196N possibly damaging Het
Armh4 A T 14: 50,010,953 (GRCm39) D251E probably benign Het
Capzb G A 4: 138,989,409 (GRCm39) probably null Het
Ccdc183 T A 2: 25,499,362 (GRCm39) T466S probably benign Het
Cd101 T C 3: 100,926,267 (GRCm39) T151A possibly damaging Het
Cdc42bpa A T 1: 179,902,209 (GRCm39) I489F probably damaging Het
Cetn4 T C 3: 37,363,600 (GRCm39) K52R possibly damaging Het
Dock6 C T 9: 21,725,884 (GRCm39) E1440K probably damaging Het
Edem2 A G 2: 155,564,436 (GRCm39) F94L probably damaging Het
Elp1 C A 4: 56,792,090 (GRCm39) R226L probably damaging Het
Elp1 C T 4: 56,798,810 (GRCm39) V51M probably damaging Het
Entrep1 T C 19: 23,957,065 (GRCm39) D315G probably damaging Het
Etl4 T C 2: 20,790,039 (GRCm39) S881P probably damaging Het
Fat2 G A 11: 55,143,081 (GRCm39) P4256L probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Kif19a A G 11: 114,677,398 (GRCm39) E594G probably benign Het
Kifap3 A G 1: 163,621,655 (GRCm39) D101G probably benign Het
Klhl6 T C 16: 19,784,832 (GRCm39) D102G probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lamb2 A G 9: 108,359,824 (GRCm39) H388R probably benign Het
Lmna T C 3: 88,389,658 (GRCm39) S656G probably benign Het
Map3k12 T A 15: 102,412,287 (GRCm39) I285F probably damaging Het
Map3k7 A G 4: 31,991,796 (GRCm39) I345V probably benign Het
Mcph1 A G 8: 18,672,702 (GRCm39) R111G possibly damaging Het
Mfsd6l T A 11: 68,447,434 (GRCm39) V95D probably damaging Het
Mogs T A 6: 83,093,006 (GRCm39) M118K possibly damaging Het
Npy5r T C 8: 67,133,686 (GRCm39) E369G possibly damaging Het
Nudt16l2 A T 9: 105,021,889 (GRCm39) F52L probably damaging Het
Or10j3 T A 1: 173,031,239 (GRCm39) Y105* probably null Het
Or2t49 A G 11: 58,392,651 (GRCm39) S244P probably damaging Het
Or8b12b A C 9: 37,683,960 (GRCm39) T2P probably benign Het
Pde7b C A 10: 20,310,340 (GRCm39) L207F probably damaging Het
Pigo A G 4: 43,020,689 (GRCm39) V751A probably benign Het
Polr2a T C 11: 69,625,381 (GRCm39) Y1923C probably benign Het
Prokr2 T C 2: 132,215,522 (GRCm39) Y152C probably damaging Het
Rab40c A G 17: 26,102,724 (GRCm39) S223P probably damaging Het
Recql4 A C 15: 76,590,511 (GRCm39) C658G probably damaging Het
Slc39a4 G T 15: 76,498,347 (GRCm39) C363* probably null Het
Snap25 A T 2: 136,619,389 (GRCm39) I181F possibly damaging Het
Snx32 T A 19: 5,547,339 (GRCm39) Q256L possibly damaging Het
Soat1 A G 1: 156,267,331 (GRCm39) V284A probably damaging Het
Sox6 G A 7: 115,300,957 (GRCm39) T170M possibly damaging Het
Spag16 G T 1: 69,912,402 (GRCm39) V246F possibly damaging Het
St6galnac6 T C 2: 32,504,977 (GRCm39) V141A possibly damaging Het
Sult2a7 T A 7: 14,211,047 (GRCm39) probably null Het
Syngr3 A T 17: 24,906,698 (GRCm39) V39E probably damaging Het
Tango6 A G 8: 107,508,418 (GRCm39) T917A probably damaging Het
Tas1r1 A G 4: 152,112,876 (GRCm39) S726P probably damaging Het
Zeb1 C T 18: 5,767,450 (GRCm39) R654C possibly damaging 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
R0602:Sgca UTSW 11 94,854,061 (GRCm39) missense possibly damaging 0.94
R0834:Sgca UTSW 11 94,861,512 (GRCm39) nonsense probably null
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'- ACCGATCTGGCTTTGCTCTATGATG -3'
(R):5'- AGCCCTGAACTCTATGCAGGTAGAC -3'

Sequencing Primer
(F):5'- TATGATGTCCCAAGAGTTCCCAAG -3'
(R):5'- CTGAACTCTATGCAGGTAGACAAGTC -3'
Posted On 2014-04-13