Incidental Mutation 'IGL03237:Sgcz'
ID 414081
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 # IGL03237
Quality Score
Status
Chromosome 8
Chromosomal Location 37989452-39128662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38030332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 170 (D170E)
Ref Sequence ENSEMBL: ENSMUSP00000117250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118896] [ENSMUST00000135764]
AlphaFold Q8BX51
Predicted Effect probably benign
Transcript: ENSMUST00000118896
AA Change: D170E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: D170E

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 38 298 4.7e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135764
AA Change: D170E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539
AA Change: D170E

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,929,388 (GRCm39) Y405C probably benign Het
Adam19 A G 11: 46,028,383 (GRCm39) K672R probably benign Het
Adamts7 C A 9: 90,070,717 (GRCm39) P613T probably damaging Het
Adgrl1 G T 8: 84,656,312 (GRCm39) probably null Het
Adrb1 A T 19: 56,711,800 (GRCm39) N333Y probably damaging Het
Aqp7 C T 4: 41,034,884 (GRCm39) V190M possibly damaging Het
Atg101 T C 15: 101,185,054 (GRCm39) F59L probably damaging Het
Capn12 T C 7: 28,590,366 (GRCm39) S638P probably damaging Het
Ccm2l T C 2: 152,907,922 (GRCm39) probably benign Het
Cdc14a A T 3: 116,198,275 (GRCm39) probably benign Het
Cdh20 A T 1: 110,066,037 (GRCm39) K770N possibly damaging Het
Clxn A G 16: 14,738,652 (GRCm39) D161G probably damaging Het
Col23a1 A C 11: 51,458,746 (GRCm39) E294D possibly damaging Het
Cped1 A T 6: 22,233,595 (GRCm39) Y679F probably damaging Het
Ctu2 A G 8: 123,205,792 (GRCm39) E180G probably benign Het
Cyp11b2 C T 15: 74,722,914 (GRCm39) V495I probably benign Het
Ecpas A T 4: 58,810,668 (GRCm39) M1563K probably benign Het
Gabrg3 A T 7: 56,632,460 (GRCm39) probably null Het
Hsd17b11 A G 5: 104,151,036 (GRCm39) *233Q probably null Het
Klhl41 T C 2: 69,500,902 (GRCm39) V121A possibly damaging Het
Kptn A T 7: 15,854,050 (GRCm39) D56V probably damaging Het
L3mbtl4 T A 17: 69,084,856 (GRCm39) I589N probably damaging Het
Lpl A T 8: 69,347,378 (GRCm39) N177Y possibly damaging Het
Manba G A 3: 135,250,512 (GRCm39) V380M probably damaging Het
Mecom A T 3: 30,010,648 (GRCm39) probably benign Het
Mertk A G 2: 128,632,192 (GRCm39) E707G probably damaging Het
Myo5a A T 9: 75,037,276 (GRCm39) I160F probably damaging Het
Myo7a A T 7: 97,751,800 (GRCm39) I81N probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nipal1 C T 5: 72,824,150 (GRCm39) R76C probably damaging Het
Noc3l C T 19: 38,803,125 (GRCm39) probably null Het
Nt5e A G 9: 88,237,787 (GRCm39) D239G probably damaging Het
Olr1 A C 6: 129,479,117 (GRCm39) W34G probably damaging Het
Plekhf1 A T 7: 37,920,799 (GRCm39) N256K probably benign Het
Psen2 T C 1: 180,068,414 (GRCm39) T80A possibly damaging Het
Psg27 A G 7: 18,294,417 (GRCm39) I330T probably benign Het
Ranbp2 T C 10: 58,328,783 (GRCm39) V2894A probably damaging Het
Snrnp200 C T 2: 127,075,233 (GRCm39) A1573V probably damaging Het
Steap3 C T 1: 120,171,520 (GRCm39) G195D probably damaging Het
Tmem165 T A 5: 76,347,356 (GRCm39) Y5* probably null Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Vmn2r67 A T 7: 84,799,118 (GRCm39) C530S probably damaging Het
Wdfy3 T A 5: 101,992,465 (GRCm39) D3389V probably damaging Het
Zfp128 A C 7: 12,624,953 (GRCm39) E440D 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
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 2016-08-02