Incidental Mutation 'R4112:Sgca'
ID 314474
Institutional Source Beutler Lab
Gene Symbol Sgca
Ensembl Gene ENSMUSG00000001508
Gene Name sarcoglycan, alpha (dystrophin-associated glycoprotein)
Synonyms 50DAG, adhalin, Asg
MMRRC Submission 040989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R4112 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94853617-94867153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94863396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 27 (T27A)
Ref Sequence ENSEMBL: ENSMUSP00000118455 (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 possibly damaging
Transcript: ENSMUST00000100551
AA Change: T27A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: T27A

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: T27A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: T27A

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139855
SMART Domains Protein: ENSMUSP00000117637
Gene: ENSMUSG00000001508

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 1 140 2.1e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000152042
AA Change: T27A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118455
Gene: ENSMUSG00000001508
AA Change: T27A

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 6 100 5.9e-34 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000166320
AA Change: T27A

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: T27A

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Meta Mutation Damage Score 0.1644 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency 97% (56/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aamp A G 1: 74,320,386 (GRCm39) probably benign Het
Abcb4 A G 5: 8,986,783 (GRCm39) probably null Het
Adam6b T A 12: 113,453,256 (GRCm39) F24L possibly damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Angpt2 T A 8: 18,749,139 (GRCm39) Q326L probably damaging Het
Armc9 T A 1: 86,116,661 (GRCm39) I327N possibly damaging Het
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
Ccdc162 T A 10: 41,532,324 (GRCm39) E450V possibly damaging Het
Ccdc7b G T 8: 129,811,708 (GRCm39) probably benign Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Chia1 T C 3: 106,035,844 (GRCm39) L168P probably damaging Het
Cnot1 A C 8: 96,500,246 (GRCm39) L111V probably damaging Het
Col14a1 A T 15: 55,226,955 (GRCm39) N235I unknown Het
Col2a1 A C 15: 97,881,582 (GRCm39) L787R probably benign Het
Cyp3a25 A T 5: 145,939,841 (GRCm39) D55E probably benign Het
Dennd6a A T 14: 26,349,673 (GRCm39) probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,098 (GRCm39) Y23H probably damaging Het
Gemin4 T A 11: 76,103,645 (GRCm39) E372V probably damaging Het
Glyr1 T C 16: 4,836,350 (GRCm39) K500E possibly damaging Het
Gm10271 A T 10: 116,803,943 (GRCm39) probably benign Het
Gm20775 A T Y: 10,641,878 (GRCm39) noncoding transcript Het
Gm5578 A G 6: 112,583,466 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,167 (GRCm39) N234S probably damaging Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Klf17 A G 4: 117,617,898 (GRCm39) V153A possibly damaging Het
L3mbtl2 T C 15: 81,566,170 (GRCm39) V331A possibly damaging Het
Med1 A T 11: 98,070,913 (GRCm39) V110E probably damaging Het
Nsmaf A C 4: 6,417,188 (GRCm39) Y535* probably null Het
Pcdh10 G A 3: 45,336,055 (GRCm39) V790M probably damaging Het
Phlpp1 A G 1: 106,292,068 (GRCm39) T976A probably damaging Het
Prelid3a T C 18: 67,605,967 (GRCm39) Y25H probably damaging Het
Ptprk T A 10: 28,351,284 (GRCm39) probably null Het
Rbm5 A T 9: 107,642,796 (GRCm39) D79E probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rnd3 T A 2: 51,038,242 (GRCm39) T78S possibly damaging Het
Scart2 G T 7: 139,878,281 (GRCm39) G1003* probably null Het
Slc10a2 C T 8: 5,155,135 (GRCm39) D17N probably benign Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sptb T A 12: 76,644,553 (GRCm39) T2098S probably damaging Het
Src T A 2: 157,304,946 (GRCm39) L165H probably damaging Het
Srr G T 11: 74,803,898 (GRCm39) Q20K probably benign Het
Stt3b A T 9: 115,095,206 (GRCm39) F275Y probably damaging Het
Sucnr1 C G 3: 59,994,215 (GRCm39) R248G probably damaging Het
Thsd7b A T 1: 130,044,356 (GRCm39) D1112V probably benign Het
Tmem80 A G 7: 140,913,692 (GRCm39) probably benign Het
Top2a C A 11: 98,913,786 (GRCm39) K18N probably damaging Het
Ttc24 T A 3: 87,981,946 (GRCm39) D40V probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zfp3 T A 11: 70,662,333 (GRCm39) S97R 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
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'- AGCCAGGGTTATAGGGACTG -3'
(R):5'- AGAAGTCTGGGTCCTGTCAC -3'

Sequencing Primer
(F):5'- TGTGTAGTGCAGCCACCTG -3'
(R):5'- TACACAGCAGAGTAGGATCTATACC -3'
Posted On 2015-05-14