Incidental Mutation 'IGL03330:Sgcb'
ID 416826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgcb
Ensembl Gene ENSMUSG00000029156
Gene Name sarcoglycan, beta (dystrophin-associated glycoprotein)
Synonyms beta-SG
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # IGL03330
Quality Score
Status
Chromosome 5
Chromosomal Location 73790092-73805080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73797212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 183 (S183C)
Ref Sequence ENSEMBL: ENSMUSP00000079937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081170]
AlphaFold P82349
Predicted Effect probably damaging
Transcript: ENSMUST00000081170
AA Change: S183C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156
AA Change: S183C

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 56 305 4.3e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201416
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 a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit muscular dystrophy and cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,050,254 (GRCm39) I837V probably damaging Het
Actr2 A G 11: 20,041,330 (GRCm39) V138A probably benign Het
Adam30 G A 3: 98,069,772 (GRCm39) C535Y probably damaging Het
Bcor G A X: 11,925,110 (GRCm39) T162I possibly damaging Het
Catsperd C A 17: 56,939,316 (GRCm39) N48K possibly damaging Het
Ccr2 T C 9: 123,905,996 (GRCm39) I92T probably damaging Het
Cp A G 3: 20,020,599 (GRCm39) I197M probably damaging Het
Cpne3 T A 4: 19,553,774 (GRCm39) T86S possibly damaging Het
Dnm3 A T 1: 162,148,560 (GRCm39) D270E probably benign Het
Enpp1 C T 10: 24,540,804 (GRCm39) probably benign Het
Ephx1 A G 1: 180,827,371 (GRCm39) V94A possibly damaging Het
Fbxw25 T C 9: 109,474,307 (GRCm39) M448V probably benign Het
Fhl2 A G 1: 43,192,351 (GRCm39) L14P probably damaging Het
Gabra4 T C 5: 71,798,407 (GRCm39) R191G probably null Het
Gtpbp6 T C 5: 110,254,929 (GRCm39) T151A possibly damaging Het
Lars1 T A 18: 42,353,009 (GRCm39) M803L probably benign Het
Myc A G 15: 61,859,998 (GRCm39) T224A probably benign Het
Noxa1 T A 2: 24,980,526 (GRCm39) D161V possibly damaging Het
Or2w3b A C 11: 58,623,745 (GRCm39) L82R probably damaging Het
Or4l1 C T 14: 50,166,678 (GRCm39) G108R probably damaging Het
Or8g52 C T 9: 39,630,784 (GRCm39) T87I probably benign Het
Peg3 G T 7: 6,713,412 (GRCm39) N603K probably damaging Het
Rhox4c G T X: 36,662,181 (GRCm39) G15V probably benign Het
Slc6a19 T A 13: 73,837,679 (GRCm39) I239F possibly damaging Het
Socs7 T C 11: 97,269,378 (GRCm39) Y399H probably damaging Het
Stc2 T C 11: 31,319,804 (GRCm39) D20G probably benign Het
Tmem184b A T 15: 79,254,179 (GRCm39) probably null Het
Tpo A G 12: 30,153,500 (GRCm39) S285P probably damaging Het
Vmn2r27 G T 6: 124,207,139 (GRCm39) Y167* probably null Het
Other mutations in Sgcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Sgcb APN 5 73,793,021 (GRCm39) missense possibly damaging 0.92
IGL02504:Sgcb APN 5 73,801,718 (GRCm39) missense probably damaging 0.96
PIT4445001:Sgcb UTSW 5 73,797,155 (GRCm39) missense probably damaging 0.99
R0708:Sgcb UTSW 5 73,798,225 (GRCm39) splice site probably null
R1016:Sgcb UTSW 5 73,797,183 (GRCm39) missense probably benign 0.18
R1119:Sgcb UTSW 5 73,801,757 (GRCm39) missense probably damaging 1.00
R1293:Sgcb UTSW 5 73,792,870 (GRCm39) missense probably benign 0.13
R1464:Sgcb UTSW 5 73,792,896 (GRCm39) missense probably benign 0.05
R1464:Sgcb UTSW 5 73,792,896 (GRCm39) missense probably benign 0.05
R2762:Sgcb UTSW 5 73,793,052 (GRCm39) splice site probably null
R5499:Sgcb UTSW 5 73,801,748 (GRCm39) missense probably damaging 0.99
R6120:Sgcb UTSW 5 73,798,153 (GRCm39) missense possibly damaging 0.62
R6809:Sgcb UTSW 5 73,798,036 (GRCm39) missense probably benign 0.03
R7484:Sgcb UTSW 5 73,797,188 (GRCm39) missense possibly damaging 0.86
R7647:Sgcb UTSW 5 73,796,720 (GRCm39) splice site probably null
R8797:Sgcb UTSW 5 73,793,036 (GRCm39) missense probably benign 0.00
R8939:Sgcb UTSW 5 73,801,661 (GRCm39) missense probably damaging 0.98
R9394:Sgcb UTSW 5 73,801,653 (GRCm39) missense probably benign 0.00
Z1177:Sgcb UTSW 5 73,801,628 (GRCm39) frame shift probably null
Posted On 2016-08-02