Incidental Mutation 'R3953:Sgcz'
ID 308052
Institutional Source Beutler Lab
Gene Symbol Sgcz
Ensembl Gene ENSMUSG00000039539
Gene Name sarcoglycan zeta
Synonyms C230085N17Rik
MMRRC Submission 040830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R3953 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 37989452-39128662 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 37993346 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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Adgrf1 A G 17: 43,621,098 (GRCm39) N445S probably benign Het
Aldh7a1 C A 18: 56,681,577 (GRCm39) V198L probably damaging Het
Ank2 A T 3: 126,781,809 (GRCm39) D6E probably damaging Het
Arhgap31 A G 16: 38,423,826 (GRCm39) F747L probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cadps T C 14: 12,505,937 (GRCm38) D711G probably damaging Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Cyp4f18 C T 8: 72,754,801 (GRCm39) R148H probably damaging Het
Dennd4a C A 9: 64,759,857 (GRCm39) P321T probably damaging Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dipk1b C T 2: 26,525,579 (GRCm39) P171L probably benign Het
Dnah2 G A 11: 69,344,929 (GRCm39) T2715M probably damaging Het
Evc2 T C 5: 37,537,931 (GRCm39) probably null Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gucy1a2 T C 9: 3,582,704 (GRCm39) probably benign Het
Gys1 C T 7: 45,089,470 (GRCm39) P274S probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Herc1 C T 9: 66,341,075 (GRCm39) Q1731* probably null Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lnx1 T C 5: 74,766,750 (GRCm39) T455A probably benign Het
Mast2 A T 4: 116,170,926 (GRCm39) H612Q probably damaging Het
Mcm9 G A 10: 53,439,440 (GRCm39) H578Y probably damaging Het
Mefv A G 16: 3,533,264 (GRCm39) S336P possibly damaging Het
Micu1 A T 10: 59,586,326 (GRCm39) H134L probably benign Het
Mrgprb2 C T 7: 48,202,116 (GRCm39) G203D possibly damaging Het
Ncapd2 T C 6: 125,147,697 (GRCm39) I1179V probably damaging Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5b119 G A 19: 13,456,806 (GRCm39) S252L probably benign Het
Pcnx3 A G 19: 5,733,808 (GRCm39) probably benign Het
Pi4ka A G 16: 17,103,145 (GRCm39) probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptprb A G 10: 116,177,399 (GRCm39) N1320S probably benign Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rhobtb2 T C 14: 70,031,488 (GRCm39) T546A possibly damaging Het
Robo1 A G 16: 72,821,226 (GRCm39) D1331G probably damaging Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Slc44a5 A G 3: 153,877,209 (GRCm39) D13G probably benign Het
Slco1a1 A T 6: 141,868,833 (GRCm39) M377K probably damaging Het
St18 T A 1: 6,873,117 (GRCm39) L284Q probably damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tln2 G A 9: 67,277,911 (GRCm39) P368S probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Tmf1 C A 6: 97,153,167 (GRCm39) R302L probably damaging Het
Tnip3 A T 6: 65,574,379 (GRCm39) T137S possibly damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Vps13d A G 4: 144,875,450 (GRCm39) S1686P probably damaging Het
Wdr41 A G 13: 95,133,571 (GRCm39) E75G probably damaging 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
R0076:Sgcz UTSW 8 38,012,596 (GRCm39) splice site probably benign
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
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 PCR Primer
(F):5'- CATCAAGCAACAAGAATTGGAGGTC -3'
(R):5'- TGCTGACTCTCTGTAAAGTCC -3'

Sequencing Primer
(F):5'- AATTGGAGGTCTGTTTAAAAGTGTC -3'
(R):5'- CTCTGTAAAGTCCATTAAACCTGAC -3'
Posted On 2015-04-17