Incidental Mutation 'IGL03237:Sgcz'
ID414081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgcz
Ensembl Gene ENSMUSG00000039539
Gene Namesarcoglycan zeta
SynonymsC230085N17Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL03237
Quality Score
Status
Chromosome8
Chromosomal Location37522298-38661508 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37563178 bp
ZygosityHeterozygous
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]
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: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Sgcz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Sgcz APN 8 37640015 missense probably damaging 1.00
IGL02593:Sgcz APN 8 37523278 missense probably damaging 0.97
IGL03238:Sgcz APN 8 37563140 critical splice donor site probably null
R0076:Sgcz UTSW 8 37545442 splice site probably benign
R0276:Sgcz UTSW 8 37952919 missense probably benign 0.18
R2095:Sgcz UTSW 8 37540392 splice site probably benign
R3623:Sgcz UTSW 8 37953047 missense probably damaging 0.96
R3624:Sgcz UTSW 8 37953047 missense probably damaging 0.96
R3862:Sgcz UTSW 8 37523411 missense probably benign
R3863:Sgcz UTSW 8 37523411 missense probably benign
R3953:Sgcz UTSW 8 37526192 splice site probably benign
R3956:Sgcz UTSW 8 37526192 splice site probably benign
R5120:Sgcz UTSW 8 37526266 missense probably benign 0.30
R5121:Sgcz UTSW 8 37539667 missense probably damaging 1.00
R5431:Sgcz UTSW 8 37639984 missense probably damaging 0.98
R5913:Sgcz UTSW 8 37526271 missense possibly damaging 0.75
R6921:Sgcz UTSW 8 37526289 missense probably damaging 1.00
R7151:Sgcz UTSW 8 37539679 missense possibly damaging 0.67
R7412:Sgcz UTSW 8 37523411 missense probably benign
R7507:Sgcz UTSW 8 37953046 missense probably benign 0.05
R7554:Sgcz UTSW 8 37563272 splice site probably null
R8121:Sgcz UTSW 8 37523303 missense probably damaging 1.00
R8355:Sgcz UTSW 8 37723085 missense probably benign 0.00
R8455:Sgcz UTSW 8 37723085 missense probably benign 0.00
Posted On2016-08-02