Incidental Mutation 'IGL01966:Sgcz'
ID 181523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgcz
Ensembl Gene ENSMUSG00000039539
Gene Name sarcoglycan zeta
Synonyms C230085N17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL01966
Quality Score
Status
Chromosome 8
Chromosomal Location 37989452-39128662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38107169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 114 (S114R)
Ref Sequence ENSEMBL: ENSMUSP00000117250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118896] [ENSMUST00000135764]
AlphaFold Q8BX51
Predicted Effect possibly damaging
Transcript: ENSMUST00000118896
AA Change: S114R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: S114R

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 38 298 4.7e-92 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135764
AA Change: S114R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539
AA Change: S114R

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 38 201 4.4e-54 PFAM
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik A G 4: 155,818,526 (GRCm39) probably null Het
Acer2 T A 4: 86,835,815 (GRCm39) *230R probably null Het
Adamts12 A G 15: 11,258,269 (GRCm39) K527E probably damaging Het
Anks1b C A 10: 90,730,994 (GRCm39) R937S probably damaging Het
C2cd5 G T 6: 142,957,767 (GRCm39) C989* probably null Het
Calhm5 T C 10: 33,972,129 (GRCm39) H102R probably benign Het
Col14a1 A G 15: 55,312,121 (GRCm39) probably benign Het
Cramp1 T A 17: 25,201,917 (GRCm39) T522S probably benign Het
Cyp2c70 A T 19: 40,142,016 (GRCm39) probably benign Het
Elmod1 T A 9: 53,828,611 (GRCm39) I224F probably benign Het
Emx2 T A 19: 59,448,021 (GRCm39) I24N possibly damaging Het
Fga A T 3: 82,936,461 (GRCm39) I86F probably damaging Het
Fig4 C A 10: 41,108,098 (GRCm39) probably null Het
Gm10234 T C 6: 95,299,118 (GRCm39) probably null Het
Gm12588 A T 11: 121,797,561 (GRCm39) I96N probably benign Het
Grm3 A G 5: 9,561,486 (GRCm39) I788T probably damaging Het
Homer3 A G 8: 70,742,807 (GRCm39) K173E probably damaging Het
Kansl1l A G 1: 66,777,227 (GRCm39) V635A probably damaging Het
Kctd3 C T 1: 188,724,859 (GRCm39) G241R probably damaging Het
Krt8 G T 15: 101,906,105 (GRCm39) S423R probably benign Het
Lrrc24 C A 15: 76,602,511 (GRCm39) A125S probably benign Het
Muc4 T C 16: 32,570,244 (GRCm39) S435P possibly damaging Het
Nfkb2 G A 19: 46,298,129 (GRCm39) G502D probably benign Het
Nlrp6 G A 7: 140,505,103 (GRCm39) C750Y probably damaging Het
Or8b1b A T 9: 38,376,225 (GRCm39) D296V possibly damaging Het
Oxsm T C 14: 16,242,520 (GRCm38) N83S probably benign Het
Paqr3 A G 5: 97,247,502 (GRCm39) L202P probably benign Het
Pcdh10 T A 3: 45,334,733 (GRCm39) L349Q probably benign Het
Ptdss2 A G 7: 140,715,304 (GRCm39) T29A possibly damaging Het
Rbbp8nl G A 2: 179,922,782 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,272,789 (GRCm39) probably benign Het
Ric1 A T 19: 29,572,963 (GRCm39) Y801F probably benign Het
Tenm4 A G 7: 96,202,757 (GRCm39) D124G probably damaging Het
Zscan22 T G 7: 12,640,398 (GRCm39) M214R probably benign Het
Other mutations in Sgcz
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07