Incidental Mutation 'R2238:Sgcd'
ID 240254
Institutional Source Beutler Lab
Gene Symbol Sgcd
Ensembl Gene ENSMUSG00000020354
Gene Name sarcoglycan, delta (dystrophin-associated glycoprotein)
Synonyms delta-SG
MMRRC Submission 040238-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R2238 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 46861904-47880309 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47023509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 99 (N99D)
Ref Sequence ENSEMBL: ENSMUSP00000076459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077221] [ENSMUST00000109220]
AlphaFold P82347
Predicted Effect possibly damaging
Transcript: ENSMUST00000077221
AA Change: N99D

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000076459
Gene: ENSMUSG00000020354
AA Change: N99D

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 23 278 3.2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109220
AA Change: N99D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000104843
Gene: ENSMUSG00000020354
AA Change: N99D

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 21 192 2.4e-68 PFAM
Meta Mutation Damage Score 0.0780 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display cardiomyopathy and muscular dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,246,469 (GRCm39) V5E possibly damaging Het
Acaca T C 11: 84,282,331 (GRCm39) probably benign Het
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Adgrl4 A T 3: 151,205,779 (GRCm39) I164F probably damaging Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Bmi1 T C 2: 18,688,225 (GRCm39) probably benign Het
Carf T C 1: 60,187,193 (GRCm39) S599P probably benign Het
Cdc37 G A 9: 21,053,829 (GRCm39) Q176* probably null Het
Clca3a1 T A 3: 144,457,766 (GRCm39) I373F possibly damaging Het
Clnk A G 5: 38,921,694 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,149 (GRCm39) I342V probably benign Het
Dact2 A T 17: 14,417,312 (GRCm39) L296Q probably damaging Het
Dctn2 C T 10: 127,112,257 (GRCm39) T123I probably damaging Het
Deup1 A C 9: 15,486,597 (GRCm39) I455S probably damaging Het
Dnmbp A G 19: 43,857,303 (GRCm39) V957A possibly damaging Het
Emilin2 T C 17: 71,581,734 (GRCm39) R331G possibly damaging Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Gbf1 T C 19: 46,152,057 (GRCm39) I30T probably benign Het
Gcc1 A G 6: 28,420,462 (GRCm39) V285A probably benign Het
Gopc T C 10: 52,229,499 (GRCm39) H188R probably damaging Het
Herc6 A G 6: 57,631,386 (GRCm39) N693D probably benign Het
Hipk2 A G 6: 38,706,850 (GRCm39) probably benign Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Ints1 G A 5: 139,750,955 (GRCm39) T814M possibly damaging Het
Kdm6a T C X: 18,065,476 (GRCm39) F104S probably damaging Het
Kdr T A 5: 76,110,179 (GRCm39) Y936F possibly damaging Het
Ly6k T C 15: 74,669,018 (GRCm39) E87G probably benign Het
Lyst A G 13: 13,917,848 (GRCm39) N3303D probably benign Het
Mindy4 T C 6: 55,278,055 (GRCm39) F633S probably damaging Het
Msl2 T A 9: 100,978,569 (GRCm39) N314K probably benign Het
Ncapd3 A G 9: 26,978,320 (GRCm39) T840A probably benign Het
Neil3 T C 8: 54,052,311 (GRCm39) D429G possibly damaging Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Nt5c1b A G 12: 10,440,108 (GRCm39) Y550C probably damaging Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Pabpc4l A C 3: 46,401,137 (GRCm39) V169G probably damaging Het
Pcgf5 A T 19: 36,414,754 (GRCm39) N105I probably damaging Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Pik3cb A G 9: 98,923,081 (GRCm39) Y984H probably damaging Het
Ptprz1 A T 6: 22,987,376 (GRCm39) Q387L probably damaging Het
Rassf8 T C 6: 145,762,910 (GRCm39) V419A probably damaging Het
Rnf148 T C 6: 23,654,345 (GRCm39) Y217C probably benign Het
Sec24d T A 3: 123,143,543 (GRCm39) probably null Het
Sesn3 T C 9: 14,219,761 (GRCm39) V50A probably benign Het
Sncaip T C 18: 53,001,619 (GRCm39) S47P probably damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Srcin1 T C 11: 97,425,645 (GRCm39) T471A probably benign Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tcaf3 A G 6: 42,570,262 (GRCm39) Y497H probably benign Het
Tmem40 C T 6: 115,708,038 (GRCm39) W150* probably null Het
Tmem59l T C 8: 70,937,772 (GRCm39) T203A probably damaging Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Vmn1r204 A G 13: 22,740,993 (GRCm39) H208R probably benign Het
Vmn2r98 T A 17: 19,286,213 (GRCm39) M237K probably damaging Het
Other mutations in Sgcd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01763:Sgcd APN 11 47,085,856 (GRCm39) critical splice donor site probably null
IGL02013:Sgcd APN 11 46,871,770 (GRCm39) intron probably benign
IGL02447:Sgcd APN 11 46,870,082 (GRCm39) intron probably benign
R1682:Sgcd UTSW 11 47,085,869 (GRCm39) missense probably benign
R1879:Sgcd UTSW 11 47,246,068 (GRCm39) missense probably benign 0.25
R1894:Sgcd UTSW 11 47,085,937 (GRCm39) missense probably damaging 1.00
R3788:Sgcd UTSW 11 47,246,032 (GRCm39) nonsense probably null
R4948:Sgcd UTSW 11 46,870,262 (GRCm39) missense possibly damaging 0.92
R5179:Sgcd UTSW 11 46,871,711 (GRCm39) missense probably benign 0.33
R5894:Sgcd UTSW 11 47,246,028 (GRCm39) missense probably damaging 1.00
R7081:Sgcd UTSW 11 47,016,428 (GRCm39) nonsense probably null
R7579:Sgcd UTSW 11 47,016,481 (GRCm39) missense possibly damaging 0.77
R9150:Sgcd UTSW 11 46,870,170 (GRCm39) missense probably damaging 0.98
R9291:Sgcd UTSW 11 46,870,166 (GRCm39) missense probably damaging 1.00
X0066:Sgcd UTSW 11 47,246,200 (GRCm39) start codon destroyed possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TCTCTACACTGTAAATGGCCAG -3'
(R):5'- CCGACTAAAGCAAGGACATTATTG -3'

Sequencing Primer
(F):5'- TGTAAATGGCCAGCTCAGC -3'
(R):5'- ACATTATTGGAGGGAACTTTTTGCC -3'
Posted On 2014-10-15