Incidental Mutation 'IGL01123:Sgca'
ID52340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgca
Ensembl Gene ENSMUSG00000001508
Gene Namesarcoglycan, alpha (dystrophin-associated glycoprotein)
Synonyms50DAG, adhalin, Asg
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.237) question?
Stock #IGL01123
Quality Score
Status
Chromosome11
Chromosomal Location94962791-94976327 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94972287 bp
ZygosityHeterozygous
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]
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: 28,973,938 D167E probably damaging Het
Aadat A T 8: 60,526,614 E170V probably benign Het
Acsf2 T C 11: 94,570,450 E300G probably benign Het
Agbl3 C T 6: 34,846,976 Q859* probably null Het
Arhgap11a T C 2: 113,834,773 probably benign Het
Arhgef40 C A 14: 51,994,346 Q730K probably damaging Het
Armc3 C T 2: 19,201,805 P13L possibly damaging Het
B3gnt2 T A 11: 22,836,490 T233S probably benign Het
Bnc1 G A 7: 81,973,707 Q591* probably null Het
Bsn A T 9: 108,115,986 F856I probably damaging Het
CK137956 T A 4: 127,935,850 T558S probably benign Het
Coq8b G A 7: 27,240,084 V180I probably damaging Het
Csmd1 A T 8: 17,534,928 L16Q possibly damaging Het
Dhx37 A G 5: 125,419,088 S769P possibly damaging Het
Diras1 T A 10: 81,022,415 M1L probably damaging Het
Fam161b A G 12: 84,357,664 W81R probably benign Het
Fat4 A T 3: 38,957,269 I2173L probably benign Het
Fbn2 T C 18: 58,104,081 T617A possibly damaging Het
Gabrq G A X: 72,836,833 D311N probably benign Het
Isl2 G T 9: 55,545,462 G335C probably damaging Het
Kbtbd7 T C 14: 79,428,612 V628A probably damaging Het
Kmt2d T C 15: 98,837,148 M5378V unknown Het
Lrrc23 G T 6: 124,778,819 D75E probably benign Het
Mab21l3 G A 3: 101,835,130 T38M probably benign Het
Matn1 T C 4: 130,950,011 I177T possibly damaging Het
Mtor T C 4: 148,453,037 S60P probably benign Het
Naip6 T C 13: 100,304,438 E278G probably benign Het
Nsun6 T C 2: 15,048,978 I7V possibly damaging Het
Pabpc6 A T 17: 9,668,147 S492T probably benign Het
Pakap C T 4: 57,757,627 Q188* probably null Het
Pom121 A T 5: 135,391,706 V287D unknown Het
Ptprq A T 10: 107,686,218 F624Y probably damaging Het
Ptprr A G 10: 116,188,317 T178A probably benign Het
Pygm A G 19: 6,391,394 N473S probably benign Het
Ros1 A T 10: 52,120,809 Y1256N probably damaging Het
Scpep1 T C 11: 88,941,328 N192S possibly damaging Het
Serpina1f A G 12: 103,694,006 S6P possibly damaging Het
Skint6 A G 4: 112,804,682 L1235P possibly damaging Het
Slc23a2 A C 2: 132,056,816 N600K probably benign Het
Spata20 T C 11: 94,483,395 T350A probably benign Het
Syne1 G T 10: 5,344,921 Y1227* probably null Het
Unc13c T C 9: 73,933,197 Y124C probably benign Het
Usp40 G A 1: 87,986,123 T416I probably benign Het
Vmn1r200 T C 13: 22,395,401 W116R probably benign Het
Vps4a T C 8: 107,039,219 probably benign Het
Zfyve16 A G 13: 92,492,522 V1469A probably damaging Het
Other mutations in Sgca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Sgca APN 11 94963378 nonsense probably null
IGL02153:Sgca APN 11 94963284 missense probably damaging 1.00
IGL02713:Sgca APN 11 94971305 missense probably damaging 1.00
IGL02928:Sgca APN 11 94972303 missense probably damaging 1.00
IGL03185:Sgca APN 11 94970784 missense probably benign 0.00
R0602:Sgca UTSW 11 94963235 missense possibly damaging 0.94
R0834:Sgca UTSW 11 94970686 nonsense probably null
R1547:Sgca UTSW 11 94969433 missense probably damaging 1.00
R1703:Sgca UTSW 11 94969391 missense probably damaging 0.97
R4110:Sgca UTSW 11 94972570 missense possibly damaging 0.63
R4112:Sgca UTSW 11 94972570 missense possibly damaging 0.63
R4796:Sgca UTSW 11 94970727 unclassified probably null
R5301:Sgca UTSW 11 94963331 missense probably damaging 1.00
R6301:Sgca UTSW 11 94972567 missense probably damaging 1.00
R6347:Sgca UTSW 11 94972028 missense probably damaging 1.00
R6510:Sgca UTSW 11 94963232 missense probably benign 0.36
R7110:Sgca UTSW 11 94963401 critical splice acceptor site probably null
R7121:Sgca UTSW 11 94969547 missense possibly damaging 0.64
R7197:Sgca UTSW 11 94973188 intron probably null
R7496:Sgca UTSW 11 94971244 missense possibly damaging 0.94
Posted On2013-06-21