Incidental Mutation 'IGL01123:Sgca'
ID 52340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgca
Ensembl Gene ENSMUSG00000001508
Gene Name sarcoglycan, alpha (dystrophin-associated glycoprotein)
Synonyms 50DAG, adhalin, Asg
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # IGL01123
Quality Score
Status
Chromosome 11
Chromosomal Location 94853617-94867153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94863113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 80 (Q80L)
Ref Sequence ENSEMBL: ENSMUSP00000130617 (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: Q80L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508
AA Change: Q80L

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: Q80L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508
AA Change: Q80L

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 probably damaging
Transcript: ENSMUST00000152042
AA Change: Q80L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118455
Gene: ENSMUSG00000001508
AA Change: Q80L

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 6 100 5.9e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166320
AA Change: Q80L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508
AA Change: Q80L

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,849,934 (GRCm39) D167E probably damaging Het
Aadat A T 8: 60,979,648 (GRCm39) E170V probably benign Het
Acsf2 T C 11: 94,461,276 (GRCm39) E300G probably benign Het
Agbl3 C T 6: 34,823,911 (GRCm39) Q859* probably null Het
Arhgap11a T C 2: 113,665,118 (GRCm39) probably benign Het
Arhgef40 C A 14: 52,231,803 (GRCm39) Q730K probably damaging Het
Armc3 C T 2: 19,206,616 (GRCm39) P13L possibly damaging Het
B3gnt2 T A 11: 22,786,490 (GRCm39) T233S probably benign Het
Bnc1 G A 7: 81,623,455 (GRCm39) Q591* probably null Het
Bsn A T 9: 107,993,185 (GRCm39) F856I probably damaging Het
CK137956 T A 4: 127,829,643 (GRCm39) T558S probably benign Het
Coq8b G A 7: 26,939,509 (GRCm39) V180I probably damaging Het
Csmd1 A T 8: 17,584,944 (GRCm39) L16Q possibly damaging Het
Dhx37 A G 5: 125,496,152 (GRCm39) S769P possibly damaging Het
Diras1 T A 10: 80,858,249 (GRCm39) M1L probably damaging Het
Fam161b A G 12: 84,404,438 (GRCm39) W81R probably benign Het
Fat4 A T 3: 39,011,418 (GRCm39) I2173L probably benign Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Gabrq G A X: 71,880,439 (GRCm39) D311N probably benign Het
Isl2 G T 9: 55,452,746 (GRCm39) G335C probably damaging Het
Kbtbd7 T C 14: 79,666,052 (GRCm39) V628A probably damaging Het
Kmt2d T C 15: 98,735,029 (GRCm39) M5378V unknown Het
Lrrc23 G T 6: 124,755,782 (GRCm39) D75E probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Matn1 T C 4: 130,677,322 (GRCm39) I177T possibly damaging Het
Mtor T C 4: 148,537,494 (GRCm39) S60P probably benign Het
Naip6 T C 13: 100,440,946 (GRCm39) E278G probably benign Het
Nsun6 T C 2: 15,053,789 (GRCm39) I7V possibly damaging Het
Pabpc6 A T 17: 9,887,076 (GRCm39) S492T probably benign Het
Pakap C T 4: 57,757,627 (GRCm39) Q188* probably null Het
Pom121 A T 5: 135,420,560 (GRCm39) V287D unknown Het
Ptprq A T 10: 107,522,079 (GRCm39) F624Y probably damaging Het
Ptprr A G 10: 116,024,222 (GRCm39) T178A probably benign Het
Pygm A G 19: 6,441,424 (GRCm39) N473S probably benign Het
Ros1 A T 10: 51,996,905 (GRCm39) Y1256N probably damaging Het
Scpep1 T C 11: 88,832,154 (GRCm39) N192S possibly damaging Het
Serpina1f A G 12: 103,660,265 (GRCm39) S6P possibly damaging Het
Skint6 A G 4: 112,661,879 (GRCm39) L1235P possibly damaging Het
Slc23a2 A C 2: 131,898,736 (GRCm39) N600K probably benign Het
Spata20 T C 11: 94,374,221 (GRCm39) T350A probably benign Het
Syne1 G T 10: 5,294,921 (GRCm39) Y1227* probably null Het
Unc13c T C 9: 73,840,479 (GRCm39) Y124C probably benign Het
Usp40 G A 1: 87,913,845 (GRCm39) T416I probably benign Het
Vmn1r200 T C 13: 22,579,571 (GRCm39) W116R probably benign Het
Vps4a T C 8: 107,765,851 (GRCm39) probably benign Het
Zfyve16 A G 13: 92,629,030 (GRCm39) V1469A probably damaging Het
Other mutations in Sgca
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21