Incidental Mutation 'IGL00159:Sgcg'
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ID949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgcg
Ensembl Gene ENSMUSG00000035296
Gene Namesarcoglycan, gamma (dystrophin-associated glycoprotein)
Synonymsgamma-SG, 5430420E18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL00159
Quality Score
Status
Chromosome14
Chromosomal Location61219115-61258490 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61232475 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 146 (D146N)
Ref Sequence ENSEMBL: ENSMUSP00000112576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077954] [ENSMUST00000089394] [ENSMUST00000121148]
Predicted Effect probably benign
Transcript: ENSMUST00000077954
AA Change: D146N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000077106
Gene: ENSMUSG00000035296
AA Change: D146N

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 25 280 1.2e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089394
SMART Domains Protein: ENSMUSP00000086816
Gene: ENSMUSG00000048279

DomainStartEndE-ValueType
SCOP:d1lm8b_ 8 66 3e-3 SMART
Blast:UBQ 9 81 3e-31 BLAST
Blast:HATPase_c 116 211 2e-10 BLAST
low complexity region 608 623 N/A INTRINSIC
low complexity region 664 673 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121148
AA Change: D146N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112576
Gene: ENSMUSG00000035296
AA Change: D146N

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 23 284 1.1e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129886
SMART Domains Protein: ENSMUSP00000117191
Gene: ENSMUSG00000035296

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 1 81 8e-20 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscles and heart similar to muscular dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik G A 7: 118,797,047 probably null Het
Axin1 A T 17: 26,142,805 D41V possibly damaging Het
BC034090 C A 1: 155,225,451 E718* probably null Het
Cdc123 G T 2: 5,804,935 Q222K probably benign Het
Clip1 A C 5: 123,603,654 V1053G possibly damaging Het
Dock7 T A 4: 99,063,985 E416V probably damaging Het
Dydc1 T C 14: 41,087,413 L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 V732A probably benign Het
Dzip1l T A 9: 99,637,777 L119Q probably damaging Het
Erp27 T A 6: 136,909,502 S178C probably damaging Het
Fbn1 A G 2: 125,397,873 V298A probably benign Het
Fbxo34 A G 14: 47,529,474 H97R probably damaging Het
Gm20521 C T 14: 54,884,622 Q81* probably null Het
Gspt1 T C 16: 11,222,612 M610V probably damaging Het
Herc1 A G 9: 66,437,682 Q1919R possibly damaging Het
Il19 A G 1: 130,935,055 probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lrrk2 A G 15: 91,747,799 K1309E possibly damaging Het
Lurap1 T C 4: 116,137,690 T115A probably damaging Het
Myo18b G T 5: 112,874,131 T465K probably benign Het
Nwd1 A T 8: 72,671,077 D648V probably damaging Het
Olfr272 T G 4: 52,911,618 M59L possibly damaging Het
Olfr520 G A 7: 99,735,317 R58H probably benign Het
Otof T C 5: 30,375,904 Y1527C probably damaging Het
Otop3 G A 11: 115,344,397 C285Y probably damaging Het
Parp3 A G 9: 106,471,387 I478T probably benign Het
Pdzd2 C T 15: 12,457,983 E265K possibly damaging Het
Pik3c2g T C 6: 139,896,125 L634P probably damaging Het
Prkg1 C A 19: 31,302,340 V165L probably benign Het
Riok3 A G 18: 12,148,891 I306V possibly damaging Het
Ror2 T C 13: 53,113,082 D439G probably benign Het
Scn2a T A 2: 65,743,090 I1428N probably damaging Het
Slc16a9 A G 10: 70,282,699 R283G probably benign Het
Sptb T C 12: 76,621,331 D664G probably benign Het
Tmprss3 T A 17: 31,195,008 D54V probably damaging Het
Ttc37 T C 13: 76,143,278 probably null Het
Tubd1 G T 11: 86,565,729 V374F probably benign Het
Vmn2r57 A T 7: 41,428,785 M83K probably benign Het
Vps13c A G 9: 67,945,999 E2458G probably benign Het
Zhx2 A T 15: 57,822,870 E545V probably damaging Het
Other mutations in Sgcg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Sgcg APN 14 61240347 nonsense probably null
R0466:Sgcg UTSW 14 61221686 missense probably damaging 1.00
R1236:Sgcg UTSW 14 61245770 missense probably damaging 0.99
R1870:Sgcg UTSW 14 61240447 splice site probably benign
R1879:Sgcg UTSW 14 61236897 critical splice acceptor site probably null
R1933:Sgcg UTSW 14 61232412 missense possibly damaging 0.77
R2090:Sgcg UTSW 14 61245764 missense probably damaging 0.99
R2937:Sgcg UTSW 14 61229625 missense probably damaging 1.00
R2938:Sgcg UTSW 14 61229625 missense probably damaging 1.00
R3508:Sgcg UTSW 14 61221746 missense probably benign
R5345:Sgcg UTSW 14 61245769 missense probably damaging 0.99
R5464:Sgcg UTSW 14 61236855 missense possibly damaging 0.65
R5582:Sgcg UTSW 14 61225305 missense probably damaging 1.00
R7259:Sgcg UTSW 14 61225217 missense probably benign 0.30
R7335:Sgcg UTSW 14 61240367 missense probably damaging 1.00
R8339:Sgcg UTSW 14 61232517 missense probably benign
Posted On2011-07-12