Incidental Mutation 'R0076:Sgcz'
ID 262054
Institutional Source Beutler Lab
Gene Symbol Sgcz
Ensembl Gene ENSMUSG00000039539
Gene Name sarcoglycan zeta
Synonyms C230085N17Rik
MMRRC Submission 038363-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R0076 (G1)
Quality Score 34
Status Validated
Chromosome 8
Chromosomal Location 37989452-39128662 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 38012596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118896] [ENSMUST00000135764]
AlphaFold Q8BX51
Predicted Effect probably benign
Transcript: ENSMUST00000118896
SMART Domains Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 38 298 4.7e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135764
SMART Domains Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 38 201 4.4e-54 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,201,417 (GRCm39) probably benign Het
Ankrd17 T A 5: 90,392,265 (GRCm39) K1693* probably null Het
Car10 G A 11: 93,381,423 (GRCm39) E129K possibly damaging Het
Ccnd1 A C 7: 144,493,402 (GRCm39) V10G probably benign Het
Cd19 T C 7: 126,010,034 (GRCm39) D406G probably damaging Het
Cfap91 G A 16: 38,123,046 (GRCm39) Q661* probably null Het
Col4a1 G A 8: 11,268,713 (GRCm39) P1009L probably damaging Het
Col9a1 G A 1: 24,276,578 (GRCm39) probably null Het
Crlf3 A T 11: 79,947,427 (GRCm39) probably benign Het
Dock3 A C 9: 106,788,685 (GRCm39) probably benign Het
Dus1l A T 11: 120,683,634 (GRCm39) probably benign Het
Dvl2 G A 11: 69,898,926 (GRCm39) E438K probably damaging Het
Eif3g A G 9: 20,809,049 (GRCm39) F85S probably damaging Het
Fam234b A G 6: 135,204,224 (GRCm39) M456V probably benign Het
Fbxo47 G A 11: 97,748,481 (GRCm39) probably benign Het
Galntl5 A G 5: 25,391,070 (GRCm39) probably null Het
Gm11437 T C 11: 84,039,462 (GRCm39) T288A possibly damaging Het
Gm5546 T A 3: 104,260,448 (GRCm39) noncoding transcript Het
Gmfb C A 14: 47,054,912 (GRCm39) A11S probably benign Het
Hnrnpa3 G T 2: 75,492,040 (GRCm39) R52L probably damaging Het
Ing3 T C 6: 21,952,170 (GRCm39) M48T probably benign Het
Kmt2a A G 9: 44,741,356 (GRCm39) probably benign Het
Megf8 G A 7: 25,053,383 (GRCm39) probably null Het
Pex3 A G 10: 13,411,338 (GRCm39) V180A probably benign Het
Pou6f1 G A 15: 100,485,717 (GRCm39) Q106* probably null Het
Ror2 T C 13: 53,267,110 (GRCm39) M442V probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Sec1 A G 7: 45,328,315 (GRCm39) V244A probably damaging Het
Serac1 A G 17: 6,115,212 (GRCm39) probably benign Het
Slc16a7 A T 10: 125,063,939 (GRCm39) V466D probably benign Het
Tbl1xr1 T A 3: 22,243,949 (GRCm39) D74E probably benign Het
Ube3b G T 5: 114,546,278 (GRCm39) probably null Het
Ugt2b37 A G 5: 87,402,080 (GRCm39) S184P probably benign Het
Other mutations in Sgcz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Sgcz APN 8 38,107,169 (GRCm39) missense probably damaging 1.00
IGL02593:Sgcz APN 8 37,990,432 (GRCm39) missense probably damaging 0.97
IGL03237:Sgcz APN 8 38,030,332 (GRCm39) missense probably benign 0.01
IGL03238:Sgcz APN 8 38,030,294 (GRCm39) critical splice donor site probably null
R0276:Sgcz UTSW 8 38,420,073 (GRCm39) missense probably benign 0.18
R2095:Sgcz UTSW 8 38,007,546 (GRCm39) splice site probably benign
R3623:Sgcz UTSW 8 38,420,201 (GRCm39) missense probably damaging 0.96
R3624:Sgcz UTSW 8 38,420,201 (GRCm39) missense probably damaging 0.96
R3862:Sgcz UTSW 8 37,990,565 (GRCm39) missense probably benign
R3863:Sgcz UTSW 8 37,990,565 (GRCm39) missense probably benign
R3953:Sgcz UTSW 8 37,993,346 (GRCm39) splice site probably benign
R3956:Sgcz UTSW 8 37,993,346 (GRCm39) splice site probably benign
R5120:Sgcz UTSW 8 37,993,420 (GRCm39) missense probably benign 0.30
R5121:Sgcz UTSW 8 38,006,821 (GRCm39) missense probably damaging 1.00
R5431:Sgcz UTSW 8 38,107,138 (GRCm39) missense probably damaging 0.98
R5913:Sgcz UTSW 8 37,993,425 (GRCm39) missense possibly damaging 0.75
R6921:Sgcz UTSW 8 37,993,443 (GRCm39) missense probably damaging 1.00
R7151:Sgcz UTSW 8 38,006,833 (GRCm39) missense possibly damaging 0.67
R7412:Sgcz UTSW 8 37,990,565 (GRCm39) missense probably benign
R7507:Sgcz UTSW 8 38,420,200 (GRCm39) missense probably benign 0.05
R7554:Sgcz UTSW 8 38,030,426 (GRCm39) splice site probably null
R8121:Sgcz UTSW 8 37,990,457 (GRCm39) missense probably damaging 1.00
R8355:Sgcz UTSW 8 38,190,239 (GRCm39) missense probably benign 0.00
R8455:Sgcz UTSW 8 38,190,239 (GRCm39) missense probably benign 0.00
R8486:Sgcz UTSW 8 38,190,207 (GRCm39) missense probably benign 0.01
R8871:Sgcz UTSW 8 38,420,103 (GRCm39) missense probably damaging 1.00
R8931:Sgcz UTSW 8 38,107,140 (GRCm39) missense probably damaging 0.98
R8997:Sgcz UTSW 8 39,127,894 (GRCm39) missense probably benign 0.02
Predicted Primers
Posted On 2015-02-04