Incidental Mutation 'R3788:Sgcd'
ID 272394
Institutional Source Beutler Lab
Gene Symbol Sgcd
Ensembl Gene ENSMUSG00000020354
Gene Name sarcoglycan, delta (dystrophin-associated glycoprotein)
Synonyms delta-SG
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R3788 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 46861904-47880309 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 47246032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 57 (K57*)
Ref Sequence ENSEMBL: ENSMUSP00000104843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077221] [ENSMUST00000109220]
AlphaFold P82347
Predicted Effect probably null
Transcript: ENSMUST00000077221
AA Change: K57*
SMART Domains Protein: ENSMUSP00000076459
Gene: ENSMUSG00000020354
AA Change: K57*

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 23 278 3.2e-82 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109220
AA Change: K57*
SMART Domains Protein: ENSMUSP00000104843
Gene: ENSMUSG00000020354
AA Change: K57*

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 21 192 2.4e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154578
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,846,561 (GRCm39) V26E possibly damaging Het
Abhd16a A G 17: 35,320,563 (GRCm39) N411S probably damaging Het
Akap13 G A 7: 75,351,901 (GRCm39) probably null Het
Aph1b T C 9: 66,701,348 (GRCm39) probably benign Het
Aspm C T 1: 139,390,941 (GRCm39) T742I probably damaging Het
Bclaf3 A G X: 158,349,492 (GRCm39) H619R probably benign Het
Bltp2 T A 11: 78,179,123 (GRCm39) probably null Het
Cemip A T 7: 83,593,106 (GRCm39) L1199H probably damaging Het
Chd2 G A 7: 73,096,878 (GRCm39) probably benign Het
Clnk A G 5: 38,872,341 (GRCm39) Y310H probably damaging Het
Crmp1 A G 5: 37,441,484 (GRCm39) D522G probably damaging Het
Cyth3 A G 5: 143,622,298 (GRCm39) probably benign Het
Dcbld1 T A 10: 52,195,754 (GRCm39) Y392N probably damaging Het
Flnc T C 6: 29,454,056 (GRCm39) F1820L probably damaging Het
Galnt18 G A 7: 111,119,322 (GRCm39) R385* probably null Het
Gpatch3 C A 4: 133,302,479 (GRCm39) R137S possibly damaging Het
Gpc6 C T 14: 117,861,878 (GRCm39) P265S probably damaging Het
Harbi1 T A 2: 91,550,952 (GRCm39) D308E probably benign Het
Hdhd2 G A 18: 77,042,883 (GRCm39) probably null Het
Hk1 T C 10: 62,111,467 (GRCm39) K737E possibly damaging Het
Hnrnpr G A 4: 136,063,624 (GRCm39) V345M probably damaging Het
Ift56 T A 6: 38,380,459 (GRCm39) probably null Het
Kalrn T C 16: 34,040,610 (GRCm39) H944R probably damaging Het
Kdm2a A T 19: 4,401,833 (GRCm39) C207S probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt75 C T 15: 101,481,956 (GRCm39) G104D possibly damaging Het
Lnpk A T 2: 74,352,607 (GRCm39) S358R probably benign Het
Map2 A G 1: 66,456,022 (GRCm39) T1512A probably damaging Het
Marchf10 T A 11: 105,287,905 (GRCm39) L132F probably damaging Het
Mfrp G A 9: 44,016,754 (GRCm39) W65* probably null Het
Mgat5 A G 1: 127,294,180 (GRCm39) D174G probably benign Het
Miga2 T A 2: 30,261,237 (GRCm39) Y177* probably null Het
Mroh3 T C 1: 136,113,213 (GRCm39) D747G probably damaging Het
Muc5b A G 7: 141,417,571 (GRCm39) T3506A possibly damaging Het
Myo7b G T 18: 32,107,165 (GRCm39) P1277T possibly damaging Het
Naaa C T 5: 92,420,413 (GRCm39) probably null Het
Ndufs2 T C 1: 171,062,889 (GRCm39) D410G possibly damaging Het
Or51a25 A G 7: 102,372,694 (GRCm39) probably null Het
Or5p78 T A 7: 108,212,280 (GRCm39) Y255* probably null Het
Or7e177 A G 9: 20,211,666 (GRCm39) I58V probably benign Het
Or8g35 A G 9: 39,381,365 (GRCm39) I219T probably benign Het
Osbp A T 19: 11,956,285 (GRCm39) Y409F probably benign Het
Plxnb1 T A 9: 108,938,355 (GRCm39) V1303D possibly damaging Het
Prkcg G A 7: 3,362,263 (GRCm39) D246N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sbf1 G A 15: 89,183,731 (GRCm39) R1261* probably null Het
Scn4a T C 11: 106,235,100 (GRCm39) N341S probably damaging Het
Sec61a2 C A 2: 5,884,436 (GRCm39) probably null Het
Sinhcaf A G 6: 148,827,617 (GRCm39) S134P possibly damaging Het
Slc12a5 T C 2: 164,835,695 (GRCm39) L861P probably damaging Het
Slc6a16 A G 7: 44,909,386 (GRCm39) D184G probably benign Het
Snx7 A G 3: 117,632,639 (GRCm39) probably benign Het
Sptbn2 A G 19: 4,795,950 (GRCm39) I1710V probably damaging Het
Sytl2 A T 7: 90,025,289 (GRCm39) I426F probably benign Het
Tdp1 A G 12: 99,858,011 (GRCm39) probably benign Het
Tmem232 C A 17: 65,689,628 (GRCm39) D496Y possibly damaging Het
Tomm20l C T 12: 71,158,516 (GRCm39) A58V possibly damaging Het
Ttn T C 2: 76,775,618 (GRCm39) E1854G unknown Het
Ttn A G 2: 76,804,552 (GRCm39) V240A probably benign Het
Vmn2r98 A T 17: 19,300,887 (GRCm39) T630S probably benign Het
Xrcc1 G C 7: 24,266,333 (GRCm39) A220P probably benign 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
R2238:Sgcd UTSW 11 47,023,509 (GRCm39) missense possibly damaging 0.50
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'- AGGGCCATTATGATGATGGAGC -3'
(R):5'- AATGTGAGTGGTTCTCTGTACC -3'

Sequencing Primer
(F):5'- TGGAGCGAAGACCTATATATTAGAC -3'
(R):5'- GAGTGGTTCTCTGTACCTGCTTC -3'
Posted On 2015-03-25