Incidental Mutation 'R1119:Sgcb'
ID97701
Institutional Source Beutler Lab
Gene Symbol Sgcb
Ensembl Gene ENSMUSG00000029156
Gene Namesarcoglycan, beta (dystrophin-associated glycoprotein)
Synonymsbeta-SG
MMRRC Submission 039192-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #R1119 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location73632749-73647790 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73644414 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 36 (K36I)
Ref Sequence ENSEMBL: ENSMUSP00000079937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081170]
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
4932438A13Rik T G 3: 36,987,045 V2524G probably damaging Het
Adamtsl3 A C 7: 82,540,317 E583A probably damaging Het
Aoah T A 13: 20,914,938 probably benign Het
Atf7ip2 A G 16: 10,240,612 K305R possibly damaging Het
Ccdc129 T C 6: 55,889,170 F183L probably damaging Het
Cd200r2 A G 16: 44,909,606 N171S probably damaging Het
Cfap57 G A 4: 118,606,676 Q327* probably null Het
Ckap2l A T 2: 129,272,572 probably benign Het
Cul2 A G 18: 3,419,335 probably benign Het
Ddx60 G A 8: 61,942,544 V172M probably damaging Het
Drp2 T C X: 134,441,322 L545P probably damaging Het
Ezh1 A G 11: 101,210,535 probably benign Het
Gipc2 A G 3: 152,094,196 F299S probably damaging Het
Gsk3b T C 16: 38,207,984 probably benign Het
Gtf3c3 C T 1: 54,417,778 A488T probably damaging Het
Hikeshi A G 7: 89,935,730 S89P probably benign Het
Hmcn1 C T 1: 150,618,928 A4137T possibly damaging Het
Larp1b C A 3: 41,033,528 R62S possibly damaging Het
Lgr5 A T 10: 115,460,811 probably null Het
Lpin1 C A 12: 16,563,721 D449Y probably damaging Het
Macrod2 A T 2: 140,400,906 I31L probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Ndufa9 A T 6: 126,822,068 L362Q probably damaging Het
Nlrp9c A T 7: 26,384,437 D572E probably benign Het
Nxpe5 G A 5: 138,239,396 D61N probably benign Het
Ogdh T A 11: 6,340,544 H376Q probably damaging Het
P4ha3 T C 7: 100,313,328 I431T probably damaging Het
Pcdhb14 G A 18: 37,448,587 V249M probably damaging Het
Pcnp A G 16: 56,024,391 S49P probably damaging Het
Pik3r6 C T 11: 68,545,872 T654I probably benign Het
Rptn A G 3: 93,396,245 Y295C possibly damaging Het
Sec16b A G 1: 157,564,834 D924G possibly damaging Het
Setd1b C A 5: 123,147,716 T275K unknown Het
Smg7 A T 1: 152,866,575 probably benign Het
Sned1 G A 1: 93,281,654 V830M possibly damaging Het
Stab2 T C 10: 86,859,755 D599G possibly damaging Het
Stk36 A G 1: 74,632,766 E875G probably benign Het
Tagln3 C A 16: 45,724,272 R12L probably damaging Het
Tax1bp1 C A 6: 52,741,948 probably benign Het
Thnsl1 A G 2: 21,213,046 N16S probably damaging Het
Ticrr C T 7: 79,693,953 P1189S probably benign Het
Tnxb G A 17: 34,685,043 V1053M probably damaging Het
Tpp2 T C 1: 43,992,396 probably null Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Vmn2r60 A T 7: 42,194,941 Q576L possibly damaging Het
Zfp62 G T 11: 49,216,690 R536L probably damaging Het
Zfp958 A T 8: 4,626,169 N46Y possibly damaging Het
Other mutations in Sgcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Sgcb APN 5 73635678 missense possibly damaging 0.92
IGL02504:Sgcb APN 5 73644375 missense probably damaging 0.96
IGL03330:Sgcb APN 5 73639869 missense probably damaging 1.00
PIT4445001:Sgcb UTSW 5 73639812 missense probably damaging 0.99
R0708:Sgcb UTSW 5 73640882 splice site probably null
R1016:Sgcb UTSW 5 73639840 missense probably benign 0.18
R1293:Sgcb UTSW 5 73635527 missense probably benign 0.13
R1464:Sgcb UTSW 5 73635553 missense probably benign 0.05
R1464:Sgcb UTSW 5 73635553 missense probably benign 0.05
R2762:Sgcb UTSW 5 73635709 splice site probably null
R5499:Sgcb UTSW 5 73644405 missense probably damaging 0.99
R6120:Sgcb UTSW 5 73640810 missense possibly damaging 0.62
R6809:Sgcb UTSW 5 73640693 missense probably benign 0.03
R7484:Sgcb UTSW 5 73639845 missense possibly damaging 0.86
R7647:Sgcb UTSW 5 73639377 splice site probably null
Z1177:Sgcb UTSW 5 73644285 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 On2014-01-05