Incidental Mutation 'R1119:Sgcb'
ID 97701
Institutional Source Beutler Lab
Gene Symbol Sgcb
Ensembl Gene ENSMUSG00000029156
Gene Name sarcoglycan, beta (dystrophin-associated glycoprotein)
Synonyms beta-SG
MMRRC Submission 039192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R1119 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 73790092-73805080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73801757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 36 (K36I)
Ref Sequence ENSEMBL: ENSMUSP00000079937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081170]
AlphaFold P82349
Predicted Effect probably damaging
Transcript: ENSMUST00000081170
AA Change: K36I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156
AA Change: K36I

DomainStartEndE-ValueType
Pfam:Sarcoglycan_1 56 305 4.3e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201845
Meta Mutation Damage Score 0.2819 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit muscular dystrophy and cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A C 7: 82,189,525 (GRCm39) E583A probably damaging Het
Aoah T A 13: 21,099,108 (GRCm39) probably benign Het
Atf7ip2 A G 16: 10,058,476 (GRCm39) K305R possibly damaging Het
Bltp1 T G 3: 37,041,194 (GRCm39) V2524G probably damaging Het
Cd200r2 A G 16: 44,729,969 (GRCm39) N171S probably damaging Het
Cfap57 G A 4: 118,463,873 (GRCm39) Q327* probably null Het
Ckap2l A T 2: 129,114,492 (GRCm39) probably benign Het
Cul2 A G 18: 3,419,335 (GRCm39) probably benign Het
Ddx60 G A 8: 62,395,578 (GRCm39) V172M probably damaging Het
Drp2 T C X: 133,342,071 (GRCm39) L545P probably damaging Het
Ezh1 A G 11: 101,101,361 (GRCm39) probably benign Het
Gipc2 A G 3: 151,799,833 (GRCm39) F299S probably damaging Het
Gsk3b T C 16: 38,028,346 (GRCm39) probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hikeshi A G 7: 89,584,938 (GRCm39) S89P probably benign Het
Hmcn1 C T 1: 150,494,679 (GRCm39) A4137T possibly damaging Het
Itprid1 T C 6: 55,866,155 (GRCm39) F183L probably damaging Het
Larp1b C A 3: 40,987,963 (GRCm39) R62S possibly damaging Het
Lgr5 A T 10: 115,296,716 (GRCm39) probably null Het
Lpin1 C A 12: 16,613,722 (GRCm39) D449Y probably damaging Het
Macrod2 A T 2: 140,242,826 (GRCm39) I31L probably benign Het
Meig1 T C 2: 3,410,311 (GRCm39) D63G probably damaging Het
Ndufa9 A T 6: 126,799,031 (GRCm39) L362Q probably damaging Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Nxpe5 G A 5: 138,237,658 (GRCm39) D61N probably benign Het
Ogdh T A 11: 6,290,544 (GRCm39) H376Q probably damaging Het
P4ha3 T C 7: 99,962,535 (GRCm39) I431T probably damaging Het
Pcdhb14 G A 18: 37,581,640 (GRCm39) V249M probably damaging Het
Pcnp A G 16: 55,844,754 (GRCm39) S49P probably damaging Het
Pik3r6 C T 11: 68,436,698 (GRCm39) T654I probably benign Het
Rptn A G 3: 93,303,552 (GRCm39) Y295C possibly damaging Het
Sec16b A G 1: 157,392,404 (GRCm39) D924G possibly damaging Het
Setd1b C A 5: 123,285,779 (GRCm39) T275K unknown Het
Smg7 A T 1: 152,742,326 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stab2 T C 10: 86,695,619 (GRCm39) D599G possibly damaging Het
Stk36 A G 1: 74,671,925 (GRCm39) E875G probably benign Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Tax1bp1 C A 6: 52,718,933 (GRCm39) probably benign Het
Thnsl1 A G 2: 21,217,857 (GRCm39) N16S probably damaging Het
Ticrr C T 7: 79,343,701 (GRCm39) P1189S probably benign Het
Tnxb G A 17: 34,904,017 (GRCm39) V1053M probably damaging Het
Tpp2 T C 1: 44,031,556 (GRCm39) probably null Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Vmn2r60 A T 7: 41,844,365 (GRCm39) Q576L possibly damaging Het
Zfp62 G T 11: 49,107,517 (GRCm39) R536L probably damaging Het
Zfp958 A T 8: 4,676,169 (GRCm39) N46Y possibly damaging Het
Other mutations in Sgcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Sgcb APN 5 73,793,021 (GRCm39) missense possibly damaging 0.92
IGL02504:Sgcb APN 5 73,801,718 (GRCm39) missense probably damaging 0.96
IGL03330:Sgcb APN 5 73,797,212 (GRCm39) missense probably damaging 1.00
PIT4445001:Sgcb UTSW 5 73,797,155 (GRCm39) missense probably damaging 0.99
R0708:Sgcb UTSW 5 73,798,225 (GRCm39) splice site probably null
R1016:Sgcb UTSW 5 73,797,183 (GRCm39) missense probably benign 0.18
R1293:Sgcb UTSW 5 73,792,870 (GRCm39) missense probably benign 0.13
R1464:Sgcb UTSW 5 73,792,896 (GRCm39) missense probably benign 0.05
R1464:Sgcb UTSW 5 73,792,896 (GRCm39) missense probably benign 0.05
R2762:Sgcb UTSW 5 73,793,052 (GRCm39) splice site probably null
R5499:Sgcb UTSW 5 73,801,748 (GRCm39) missense probably damaging 0.99
R6120:Sgcb UTSW 5 73,798,153 (GRCm39) missense possibly damaging 0.62
R6809:Sgcb UTSW 5 73,798,036 (GRCm39) missense probably benign 0.03
R7484:Sgcb UTSW 5 73,797,188 (GRCm39) missense possibly damaging 0.86
R7647:Sgcb UTSW 5 73,796,720 (GRCm39) splice site probably null
R8797:Sgcb UTSW 5 73,793,036 (GRCm39) missense probably benign 0.00
R8939:Sgcb UTSW 5 73,801,661 (GRCm39) missense probably damaging 0.98
R9394:Sgcb UTSW 5 73,801,653 (GRCm39) missense probably benign 0.00
Z1177:Sgcb UTSW 5 73,801,628 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TCACGAGTAGATTGATGACGGCCAG -3'
(R):5'- GCGCTGTACCCATATTGACAGTAGG -3'

Sequencing Primer
(F):5'- TTGATGACGGCCAGGATAAAC -3'
(R):5'- GTACCCATATTGACAGTAGGATGACC -3'
Posted On 2014-01-05