Incidental Mutation 'R4520:Sspn'
ID 334174
Institutional Source Beutler Lab
Gene Symbol Sspn
Ensembl Gene ENSMUSG00000030255
Gene Name sarcospan
Synonyms Krag
MMRRC Submission 041763-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4520 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 145877367-145910949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 145907033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 79 (T79A)
Ref Sequence ENSEMBL: ENSMUSP00000107331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032383] [ENSMUST00000111701] [ENSMUST00000111702]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032383
AA Change: T155A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032383
Gene: ENSMUSG00000030255
AA Change: T155A

DomainStartEndE-ValueType
Pfam:CD20 28 183 1.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111701
AA Change: T79A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107330
Gene: ENSMUSG00000030255
AA Change: T79A

DomainStartEndE-ValueType
Pfam:CD20 4 124 1.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111702
AA Change: T79A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107331
Gene: ENSMUSG00000030255
AA Change: T79A

DomainStartEndE-ValueType
Pfam:CD20 4 124 1.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139089
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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 dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal muscle histology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,776,027 (GRCm39) T1739A probably damaging Het
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cel C T 2: 28,447,980 (GRCm39) V349M probably benign Het
Cspp1 A G 1: 10,204,452 (GRCm39) T1127A probably benign Het
Cyp2b10 T C 7: 25,610,982 (GRCm39) V113A probably benign Het
Cyp2c50 A G 19: 40,079,133 (GRCm39) T159A probably benign Het
Degs1 T C 1: 182,104,373 (GRCm39) D304G possibly damaging Het
Esr2 G A 12: 76,214,323 (GRCm39) P43S possibly damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Gm5444 A G 13: 4,884,225 (GRCm39) noncoding transcript Het
Golga3 T A 5: 110,351,617 (GRCm39) L790* probably null Het
Gtpbp6 T C 5: 110,255,725 (GRCm39) T105A probably benign Het
Ido2 T C 8: 25,066,194 (GRCm39) E24G probably damaging Het
Ihh T A 1: 74,990,109 (GRCm39) I89F probably damaging Het
Krt13 A G 11: 100,010,174 (GRCm39) M269T probably damaging Het
Marf1 T C 16: 13,950,530 (GRCm39) H952R probably damaging Het
Mga T A 2: 119,778,579 (GRCm39) F2041L possibly damaging Het
Msmo1 A C 8: 65,173,557 (GRCm39) probably benign Het
Mterf1a A G 5: 3,940,992 (GRCm39) V292A probably damaging Het
Naxe A G 3: 87,965,289 (GRCm39) probably null Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Or51h5 A T 7: 102,577,764 (GRCm39) I310F probably benign Het
Or56b1 T A 7: 104,285,376 (GRCm39) V165E probably damaging Het
Or8h7 T C 2: 86,721,363 (GRCm39) D52G probably benign Het
Otog T A 7: 45,890,477 (GRCm39) probably benign Het
Pigo A T 4: 43,020,301 (GRCm39) H880Q probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Pole T A 5: 110,445,790 (GRCm39) D555E probably damaging Het
Prkag2 A G 5: 25,071,169 (GRCm39) V403A probably damaging Het
Psg28 T A 7: 18,156,826 (GRCm39) M470L probably benign Het
Rpgrip1 A G 14: 52,389,746 (GRCm39) T1138A probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpinb9c T C 13: 33,335,840 (GRCm39) probably null Het
Sh2d6 T C 6: 72,495,936 (GRCm39) N101D possibly damaging Het
Shisa8 C G 15: 82,096,163 (GRCm39) V151L possibly damaging Het
Slc13a1 T C 6: 24,134,512 (GRCm39) T124A probably benign Het
Slc6a3 G A 13: 73,688,975 (GRCm39) V100M possibly damaging Het
Tlr8 C T X: 166,026,171 (GRCm39) R893H probably damaging Het
Tnrc18 T C 5: 142,717,905 (GRCm39) K2183R unknown Het
Trim15 T C 17: 37,177,242 (GRCm39) I139M probably benign Het
Trmt13 A T 3: 116,375,262 (GRCm39) probably null Het
Vmn2r84 T A 10: 130,222,391 (GRCm39) T610S probably damaging Het
Zcchc14 A T 8: 122,335,834 (GRCm39) probably benign Het
Other mutations in Sspn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02218:Sspn APN 6 145,907,112 (GRCm39) missense probably damaging 1.00
R0634:Sspn UTSW 6 145,906,877 (GRCm39) missense possibly damaging 0.68
R3114:Sspn UTSW 6 145,880,095 (GRCm39) missense possibly damaging 0.91
R3943:Sspn UTSW 6 145,880,083 (GRCm39) missense probably damaging 1.00
R5623:Sspn UTSW 6 145,906,952 (GRCm39) missense probably damaging 1.00
R7144:Sspn UTSW 6 145,906,881 (GRCm39) missense probably damaging 1.00
R7272:Sspn UTSW 6 145,907,200 (GRCm39) missense probably benign
R8112:Sspn UTSW 6 145,901,361 (GRCm39) missense possibly damaging 0.77
R9582:Sspn UTSW 6 145,899,334 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GCCAGTCCTCTCTGTAACAG -3'
(R):5'- TTGGTAGCTGGCCATCAGAAG -3'

Sequencing Primer
(F):5'- GTCCTCTCTGTAACAGGAAGC -3'
(R):5'- TGGCCATCAGAAGCCATCAGG -3'
Posted On 2015-08-18