Incidental Mutation 'R6510:Sgca'
ID 519888
Institutional Source Beutler Lab
Gene Symbol Sgca
Ensembl Gene ENSMUSG00000001508
Gene Name sarcoglycan, alpha (dystrophin-associated glycoprotein)
Synonyms 50DAG, adhalin, Asg
MMRRC Submission 044423-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R6510 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94853617-94867153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94854058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 137 (L137Q)
Ref Sequence ENSEMBL: ENSMUSP00000117637 (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 probably benign
Transcript: ENSMUST00000100551
AA Change: L384Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: L384Q

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103162
AA Change: L384Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: L384Q

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139855
AA Change: L137Q

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117637
Gene: ENSMUSG00000001508
AA Change: L137Q

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 1 140 2.1e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158779
Predicted Effect probably benign
Transcript: ENSMUST00000166320
AA Change: L384Q

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: L384Q

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.6%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,770,645 (GRCm39) probably null Het
Adgrv1 T C 13: 81,707,609 (GRCm39) T1266A possibly damaging Het
Arhgef17 T C 7: 100,527,743 (GRCm39) N1758S probably damaging Het
C130073F10Rik T A 4: 101,747,482 (GRCm39) E182D probably benign Het
Ears2 T C 7: 121,662,217 (GRCm39) D77G probably damaging Het
Ephb3 A G 16: 21,036,861 (GRCm39) D108G probably damaging Het
Foxp4 A G 17: 48,186,335 (GRCm39) F452S unknown Het
Gas2 T C 7: 51,593,460 (GRCm39) L180P probably damaging Het
Gm28168 T C 1: 117,875,685 (GRCm39) Y105H probably damaging Het
Ifi205 T A 1: 173,845,131 (GRCm39) D217V probably damaging Het
Igsf9 C G 1: 172,317,864 (GRCm39) Q74E possibly damaging Het
Itga2 A T 13: 115,009,816 (GRCm39) F380I probably damaging Het
Kremen2 A G 17: 23,962,629 (GRCm39) V128A possibly damaging Het
Mmp20 T A 9: 7,643,967 (GRCm39) N218K probably damaging Het
Msh3 T A 13: 92,489,772 (GRCm39) K73* probably null Het
Or4c103 C T 2: 88,513,302 (GRCm39) R258H probably benign Het
Pate2 T A 9: 35,581,018 (GRCm39) C11S probably null Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Serpini2 T C 3: 75,159,875 (GRCm39) D297G probably damaging Het
Treml4 A G 17: 48,581,472 (GRCm39) D249G probably benign Het
Vmn1r226 T C 17: 20,908,115 (GRCm39) C116R 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
R0602:Sgca UTSW 11 94,854,061 (GRCm39) missense possibly damaging 0.94
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
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'- GTTGTGGCACAGTTCCAGTAC -3'
(R):5'- GCTCCTAGAGGCTAATTCCAAG -3'

Sequencing Primer
(F):5'- AGTTCCAGTACTGTGAGCAC -3'
(R):5'- TCCTAGAGGCTAATTCCAAGAGCTG -3'
Posted On 2018-06-06