Incidental Mutation 'R8486:Sgcz'
ID 657744
Institutional Source Beutler Lab
Gene Symbol Sgcz
Ensembl Gene ENSMUSG00000039539
Gene Name sarcoglycan zeta
Synonyms C230085N17Rik
MMRRC Submission 067929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R8486 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 37989452-39128662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 38190207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 106 (K106N)
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: K106N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: K106N

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 38 298 4.7e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135764
AA Change: K106N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117250
Gene: ENSMUSG00000039539
AA Change: K106N

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 38 201 4.4e-54 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,225,092 (GRCm39) S524G probably benign Het
Abca8b A T 11: 109,857,937 (GRCm39) I546N possibly damaging Het
Abcd4 C T 12: 84,650,752 (GRCm39) R532H probably damaging Het
Acsf2 A T 11: 94,460,786 (GRCm39) D373E probably damaging Het
Acsm1 A G 7: 119,259,880 (GRCm39) T510A probably damaging Het
Adam21 C T 12: 81,607,550 (GRCm39) V71I probably benign Het
Adgra3 T C 5: 50,147,621 (GRCm39) D473G probably damaging Het
Agbl2 G A 2: 90,631,499 (GRCm39) V286I possibly damaging Het
Alkbh8 A G 9: 3,344,642 (GRCm39) E141G probably null Het
Arhgap21 T C 2: 20,865,236 (GRCm39) D952G probably damaging Het
Asb4 A T 6: 5,390,653 (GRCm39) K15N possibly damaging Het
Cert1 T C 13: 96,770,690 (GRCm39) V533A probably damaging Het
Clip1 G T 5: 123,752,770 (GRCm39) probably benign Het
Clip4 T C 17: 72,170,839 (GRCm39) probably benign Het
Cyp2b10 T C 7: 25,614,306 (GRCm39) V260A probably benign Het
Dnm1 C T 2: 32,224,739 (GRCm39) M430I probably benign Het
Dpp7 T C 2: 25,242,561 (GRCm39) D464G probably damaging Het
Dspp A G 5: 104,321,883 (GRCm39) probably benign Het
Ephb1 A C 9: 101,841,164 (GRCm39) D730E probably benign Het
Fancf A G 7: 51,511,632 (GRCm39) V124A probably benign Het
Fgfr2 G A 7: 129,765,745 (GRCm39) P692S possibly damaging Het
Fkbp15 G A 4: 62,230,521 (GRCm39) R731* probably null Het
Fos T C 12: 85,522,805 (GRCm39) F239S probably benign Het
Fuz T C 7: 44,548,092 (GRCm39) Y107H probably damaging Het
Gm3159 A C 14: 4,400,520 (GRCm38) N193T probably damaging Het
Helz2 T A 2: 180,871,124 (GRCm39) D2771V probably damaging Het
Ighv1-18 T A 12: 114,646,325 (GRCm39) K92M probably damaging Het
Kcnh3 A G 15: 99,136,091 (GRCm39) Y696C probably damaging Het
Klf15 T A 6: 90,444,160 (GRCm39) V245D probably damaging Het
L1td1 C T 4: 98,625,911 (GRCm39) A702V probably damaging Het
Lamc2 A G 1: 153,034,637 (GRCm39) M122T probably benign Het
Lrp1b A G 2: 41,618,702 (GRCm39) L124P probably damaging Het
Mcrs1 G T 15: 99,146,349 (GRCm39) Y85* probably null Het
Mgst1 A T 6: 138,120,026 (GRCm39) I29L probably benign Het
Miga1 C T 3: 151,982,390 (GRCm39) R562H probably damaging Het
Mybpc3 T C 2: 90,959,117 (GRCm39) W687R probably damaging Het
Myh11 G T 16: 14,022,532 (GRCm39) A1682D possibly damaging Het
Nes T C 3: 87,887,320 (GRCm39) S1816P probably damaging Het
Or52p1 T C 7: 104,267,069 (GRCm39) V69A possibly damaging Het
Or5c1 T G 2: 37,222,662 (GRCm39) V301G probably damaging Het
Pkhd1l1 T G 15: 44,410,812 (GRCm39) F2773C probably damaging Het
Pkp1 C G 1: 135,846,714 (GRCm39) E13Q probably damaging Het
Ppp2r2b T C 18: 43,031,869 (GRCm39) D4G probably benign Het
Ppp6r3 G A 19: 3,537,072 (GRCm39) H455Y probably benign Het
R3hdm1 A G 1: 128,106,657 (GRCm39) R202G probably benign Het
Slc13a4 T C 6: 35,247,304 (GRCm39) Y572C probably damaging Het
Syne2 C T 12: 76,088,881 (GRCm39) Q5080* probably null Het
Tpst2 C T 5: 112,456,171 (GRCm39) Q5* probably null Het
Ttn T A 2: 76,561,877 (GRCm39) T28908S possibly damaging Het
Vmn1r120 C T 7: 20,787,027 (GRCm39) R228H probably benign Het
Vmn2r3 T C 3: 64,186,370 (GRCm39) N105S probably damaging Het
Zfp521 T C 18: 13,979,829 (GRCm39) T195A probably damaging Het
Zfp616 T A 11: 73,974,909 (GRCm39) S484T 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
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
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'- AGATCAAGTGCTTTCTGATTTGCC -3'
(R):5'- GATGCAAAATGCTGTGATCTTTCC -3'

Sequencing Primer
(F):5'- GCTTTCTGATTTGCCAATTTAAAGC -3'
(R):5'- ATGCTGTGATCTTTCCAATATCTTG -3'
Posted On 2021-01-18