Incidental Mutation 'R9582:Sspn'
ID 722601
Institutional Source Beutler Lab
Gene Symbol Sspn
Ensembl Gene ENSMUSG00000030255
Gene Name sarcospan
Synonyms Krag
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9582 (G1)
Quality Score 173.009
Status Not validated
Chromosome 6
Chromosomal Location 145877367-145910949 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 145899334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000032383
Gene: ENSMUSG00000030255

DomainStartEndE-ValueType
Pfam:CD20 28 183 1.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111701
SMART Domains Protein: ENSMUSP00000107330
Gene: ENSMUSG00000030255

DomainStartEndE-ValueType
Pfam:CD20 4 124 1.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111702
SMART Domains Protein: ENSMUSP00000107331
Gene: ENSMUSG00000030255

DomainStartEndE-ValueType
Pfam:CD20 4 124 1.4e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,772,766 (GRCm39) F652I probably damaging Het
Adam17 A T 12: 21,386,665 (GRCm39) I457K probably benign Het
Arpin T C 7: 79,585,038 (GRCm39) probably benign Het
Bhlhe40 A G 6: 108,638,467 (GRCm39) E51G probably benign Het
Ces1a C T 8: 93,766,156 (GRCm39) D153N probably benign Het
Cog7 T C 7: 121,536,200 (GRCm39) M547V probably benign Het
Csrnp2 C T 15: 100,386,067 (GRCm39) R57K possibly damaging Het
Dact1 A T 12: 71,365,619 (GRCm39) K763M probably damaging Het
Ddost A T 4: 138,035,583 (GRCm39) I101F possibly damaging Het
Dyrk1b C T 7: 27,882,028 (GRCm39) R130W probably damaging Het
Ep400 A C 5: 110,824,315 (GRCm39) probably null Het
Fam227a A G 15: 79,501,978 (GRCm39) V532A probably benign Het
Flnc C A 6: 29,460,736 (GRCm39) T2609K probably damaging Het
Gbp10 A G 5: 105,372,256 (GRCm39) V168A probably benign Het
Gp5 A G 16: 30,127,057 (GRCm39) V539A probably benign Het
H2-T13 T A 17: 36,392,375 (GRCm39) R33S unknown Het
Itih5 A G 2: 10,195,013 (GRCm39) E135G probably benign Het
L2hgdh A G 12: 69,739,172 (GRCm39) V433A probably benign Het
Leng9 A G 7: 4,152,263 (GRCm39) S138P probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ly6g6e T C 17: 35,296,159 (GRCm39) V10A probably benign Het
Lypla1 C T 1: 4,911,248 (GRCm39) P178S probably benign Het
Mark1 A G 1: 184,651,858 (GRCm39) F216L possibly damaging Het
Mertk G A 2: 128,624,527 (GRCm39) R646Q possibly damaging Het
Mmp9 A C 2: 164,791,235 (GRCm39) D135A probably benign Het
Nefl A G 14: 68,324,849 (GRCm39) K529E unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nwd1 A G 8: 73,421,917 (GRCm39) T988A probably damaging Het
P4ha2 T A 11: 54,022,065 (GRCm39) C529* probably null Het
Pcdhb4 T A 18: 37,441,417 (GRCm39) F242L probably damaging Het
Pced1b A G 15: 97,282,450 (GRCm39) N163S probably damaging Het
Pde8b A G 13: 95,169,369 (GRCm39) V585A probably damaging Het
Pknox2 T A 9: 36,804,252 (GRCm39) T432S probably damaging Het
Rad18 A G 6: 112,658,298 (GRCm39) probably null Het
Rpgrip1l C T 8: 91,996,886 (GRCm39) V665I probably benign Het
Rreb1 A G 13: 38,114,734 (GRCm39) I698V probably benign Het
Schip1 TCTGGCC TC 3: 68,525,060 (GRCm39) probably null Het
Slc2a4 C T 11: 69,837,450 (GRCm39) V32M probably damaging Het
Slc40a1 A G 1: 45,950,499 (GRCm39) Y318H probably damaging Het
Spag16 A G 1: 69,897,717 (GRCm39) T156A probably benign Het
Srebf1 C A 11: 60,097,868 (GRCm39) A103S probably benign Het
Stoml2 A T 4: 43,030,238 (GRCm39) probably null Het
Stra6 T A 9: 58,054,770 (GRCm39) V319E probably damaging Het
Syt7 T C 19: 10,416,780 (GRCm39) F414L probably damaging Het
Tet3 G T 6: 83,381,226 (GRCm39) P314Q probably damaging Het
Tnrc18 A T 5: 142,757,128 (GRCm39) L1313Q Het
Topors A T 4: 40,260,460 (GRCm39) D941E unknown Het
Txnip T A 3: 96,465,659 (GRCm39) C36* probably null Het
Uba3 A T 6: 97,168,491 (GRCm39) M178K probably damaging Het
Vmn1r6 A G 6: 56,979,925 (GRCm39) T196A probably benign Het
Vwc2 T A 11: 11,066,129 (GRCm39) S72R probably benign Het
Wnk2 A G 13: 49,210,975 (GRCm39) S1627P 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
R4520:Sspn UTSW 6 145,907,033 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- CATCTCTCAGTTCCCAGAGAC -3'
(R):5'- CGCAAGCCAGACAGAATGTTC -3'

Sequencing Primer
(F):5'- GTACAGCACAGACTGTAAGTTCAGC -3'
(R):5'- GCCAGACAGAATGTTCTAAACTTAC -3'
Posted On 2022-08-09