Incidental Mutation 'R5464:Sgcg'
ID 433181
Institutional Source Beutler Lab
Gene Symbol Sgcg
Ensembl Gene ENSMUSG00000035296
Gene Name sarcoglycan, gamma (dystrophin-associated glycoprotein)
Synonyms gamma-SG, 5430420E18Rik
MMRRC Submission 042850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R5464 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 61456564-61495939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61474304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 113 (V113A)
Ref Sequence ENSEMBL: ENSMUSP00000112576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077954] [ENSMUST00000089394] [ENSMUST00000121148]
AlphaFold P82348
Predicted Effect possibly damaging
Transcript: ENSMUST00000077954
AA Change: V113A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077106
Gene: ENSMUSG00000035296
AA Change: V113A

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 possibly damaging
Transcript: ENSMUST00000121148
AA Change: V113A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112576
Gene: ENSMUSG00000035296
AA Change: V113A

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Acsl1 T A 8: 46,958,775 (GRCm39) D95E probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts16 T A 13: 70,909,868 (GRCm39) H895L probably benign Het
Alox12e T C 11: 70,208,505 (GRCm39) Y483C probably damaging Het
Atp13a2 T A 4: 140,733,381 (GRCm39) F952I probably damaging Het
Crot T G 5: 9,033,690 (GRCm39) probably null Het
Dnaja1 T A 4: 40,724,133 (GRCm39) M98K probably benign Het
Eps8 C T 6: 137,504,473 (GRCm39) G87R probably damaging Het
Flg2 C A 3: 93,109,277 (GRCm39) T435K possibly damaging Het
Gpatch4 T C 3: 87,962,062 (GRCm39) probably null Het
Heatr1 T A 13: 12,448,524 (GRCm39) M1795K probably benign Het
Ift52 T C 2: 162,871,735 (GRCm39) V189A probably benign Het
Kif21a T A 15: 90,878,058 (GRCm39) D250V probably damaging Het
Lrrc66 T C 5: 73,765,622 (GRCm39) T474A probably benign Het
Mcub T C 3: 129,709,365 (GRCm39) E316G probably benign Het
Mettl15 C T 2: 109,021,967 (GRCm39) V113I probably benign Het
Mroh8 T A 2: 157,063,150 (GRCm39) I824F probably damaging Het
Mrpl19 A G 6: 81,938,992 (GRCm39) M270T probably damaging Het
Naa12 C T 18: 80,255,138 (GRCm39) A144V probably damaging Het
Or10d4 A T 9: 39,581,066 (GRCm39) T238S probably damaging Het
Or4ac1-ps1 T C 2: 88,370,599 (GRCm39) Y58C probably null Het
Or51a25 A G 7: 102,373,124 (GRCm39) V191A possibly damaging Het
Or51a39 T C 7: 102,362,889 (GRCm39) T244A probably benign Het
Or51a43 C A 7: 103,717,674 (GRCm39) R188L possibly damaging Het
Or51f5 A G 7: 102,424,640 (GRCm39) K303R probably benign Het
Or52a24 T A 7: 103,381,396 (GRCm39) W88R probably damaging Het
Or5ak23 AAGTCTGGAGTC AAGTC 2: 85,245,057 (GRCm39) probably null Het
Or6x1 T C 9: 40,099,080 (GRCm39) I223T probably damaging Het
Pacs1 T C 19: 5,197,235 (GRCm39) M430V probably benign Het
Piezo2 A G 18: 63,278,176 (GRCm39) S243P probably damaging Het
Ppp1r36 A T 12: 76,474,852 (GRCm39) probably null Het
Prdm16 T A 4: 154,430,601 (GRCm39) probably null Het
Prss36 A T 7: 127,533,405 (GRCm39) W97R probably damaging Het
Psmg4 A T 13: 34,362,047 (GRCm39) I112F probably damaging Het
Ptpru C T 4: 131,499,868 (GRCm39) G1259R probably damaging Het
Rsph4a T C 10: 33,785,337 (GRCm39) I416T possibly damaging Het
Scn2a C T 2: 65,532,100 (GRCm39) R571C probably damaging Het
Selenbp1 A G 3: 94,851,727 (GRCm39) M423V probably benign Het
Serpina3i G A 12: 104,234,751 (GRCm39) A361T possibly damaging Het
Serpinb3c A T 1: 107,199,434 (GRCm39) D362E probably damaging Het
Sf3a3 T C 4: 124,622,033 (GRCm39) probably null Het
Slc3a2 T C 19: 8,691,008 (GRCm39) K74R probably damaging Het
Smco1 T A 16: 32,092,694 (GRCm39) W122R probably damaging Het
Snx19 A G 9: 30,339,269 (GRCm39) K136E possibly damaging Het
Trim32 A G 4: 65,532,625 (GRCm39) N394S probably damaging Het
Uqcrb T C 13: 67,048,889 (GRCm39) D87G probably damaging Het
Wipf3 T C 6: 54,462,308 (GRCm39) S173P possibly damaging Het
Zfp473 T C 7: 44,382,062 (GRCm39) E756G probably damaging Het
Other mutations in Sgcg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Sgcg APN 14 61,477,796 (GRCm39) nonsense probably null
IGL00159:Sgcg APN 14 61,469,924 (GRCm39) missense probably benign 0.00
R0466:Sgcg UTSW 14 61,459,135 (GRCm39) missense probably damaging 1.00
R1236:Sgcg UTSW 14 61,483,219 (GRCm39) missense probably damaging 0.99
R1870:Sgcg UTSW 14 61,477,896 (GRCm39) splice site probably benign
R1879:Sgcg UTSW 14 61,474,346 (GRCm39) critical splice acceptor site probably null
R1933:Sgcg UTSW 14 61,469,861 (GRCm39) missense possibly damaging 0.77
R2090:Sgcg UTSW 14 61,483,213 (GRCm39) missense probably damaging 0.99
R2937:Sgcg UTSW 14 61,467,074 (GRCm39) missense probably damaging 1.00
R2938:Sgcg UTSW 14 61,467,074 (GRCm39) missense probably damaging 1.00
R3508:Sgcg UTSW 14 61,459,195 (GRCm39) missense probably benign
R5345:Sgcg UTSW 14 61,483,218 (GRCm39) missense probably damaging 0.99
R5582:Sgcg UTSW 14 61,462,754 (GRCm39) missense probably damaging 1.00
R7259:Sgcg UTSW 14 61,462,666 (GRCm39) missense probably benign 0.30
R7335:Sgcg UTSW 14 61,477,816 (GRCm39) missense probably damaging 1.00
R8339:Sgcg UTSW 14 61,469,966 (GRCm39) missense probably benign
R8482:Sgcg UTSW 14 61,477,856 (GRCm39) missense probably damaging 1.00
R8807:Sgcg UTSW 14 61,469,930 (GRCm39) missense probably damaging 1.00
R8916:Sgcg UTSW 14 61,474,341 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGCTAGAAGGCTCATGGTTTC -3'
(R):5'- GCAGCATCTTCAACTCAAAGG -3'

Sequencing Primer
(F):5'- CTAGAAGGCTCATGGTTTCTTATTTC -3'
(R):5'- GTGTGTGTATCACTAGGATCCTATAC -3'
Posted On 2016-10-06