Incidental Mutation 'R3114:Sspn'
ID 263928
Institutional Source Beutler Lab
Gene Symbol Sspn
Ensembl Gene ENSMUSG00000030255
Gene Name sarcospan
Synonyms Krag
MMRRC Submission 040587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3114 (G1)
Quality Score 181
Status Validated
Chromosome 6
Chromosomal Location 145877367-145910949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145880095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 66 (I66F)
Ref Sequence ENSEMBL: ENSMUSP00000032383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032383] [ENSMUST00000111702]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032383
AA Change: I66F

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032383
Gene: ENSMUSG00000030255
AA Change: I66F

DomainStartEndE-ValueType
Pfam:CD20 28 183 1.3e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111702
SMART Domains Protein: ENSMUSP00000107331
Gene: ENSMUSG00000030255

DomainStartEndE-ValueType
Pfam:CD20 4 124 1.4e-11 PFAM
Meta Mutation Damage Score 0.0769 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (33/33)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 C T 15: 102,442,858 (GRCm39) S417N probably benign Het
Cdt1 C T 8: 123,297,221 (GRCm39) Q305* probably null Het
Cfap65 T A 1: 74,966,291 (GRCm39) K345N probably damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Col11a2 T G 17: 34,265,442 (GRCm39) V276G possibly damaging Het
Dnah8 A G 17: 31,052,542 (GRCm39) S4346G probably benign Het
Dnhd1 T C 7: 105,345,772 (GRCm39) probably null Het
Espl1 T A 15: 102,231,639 (GRCm39) F1945Y possibly damaging Het
Fzd5 A G 1: 64,774,739 (GRCm39) F341L probably benign Het
Gm1587 T G 14: 78,036,272 (GRCm39) E11D unknown Het
H3c3 C A 13: 23,929,290 (GRCm39) R64L probably benign Het
Ighv5-1 A G 12: 113,537,844 (GRCm39) probably benign Het
Klhl3 A G 13: 58,198,841 (GRCm39) probably null Het
Klhl33 A T 14: 51,128,972 (GRCm39) D752E possibly damaging Het
Krt24 T A 11: 99,173,262 (GRCm39) T298S possibly damaging Het
Marchf1 A C 8: 66,840,033 (GRCm39) H272P probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mei1 C T 15: 82,009,160 (GRCm39) A835V probably benign Het
Mier3 T A 13: 111,843,182 (GRCm39) I178N probably damaging Het
Mlxipl A G 5: 135,162,516 (GRCm39) probably benign Het
Mob3a A T 10: 80,527,136 (GRCm39) V63E probably damaging Het
Nos3 C T 5: 24,577,629 (GRCm39) probably benign Het
Or4a2 T A 2: 89,248,757 (GRCm39) probably null Het
Pcdha11 T A 18: 37,144,860 (GRCm39) I317K probably damaging Het
Pcdha4 T C 18: 37,086,603 (GRCm39) V262A probably benign Het
Pde4d T A 13: 110,084,792 (GRCm39) M519K probably damaging Het
Pds5a A G 5: 65,776,328 (GRCm39) S89P probably damaging Het
Ptar1 T A 19: 23,695,459 (GRCm39) C309S probably benign Het
Rint1 A G 5: 24,024,418 (GRCm39) N682S probably benign Het
Rnmt A G 18: 68,447,079 (GRCm39) E321G probably benign Het
Serpinb8 A G 1: 107,535,023 (GRCm39) I365V probably benign Het
Sik1 T C 17: 32,067,106 (GRCm39) T505A probably benign Het
Slfn10-ps T A 11: 82,919,955 (GRCm39) noncoding transcript Het
Spmip8 T C 8: 96,039,809 (GRCm39) probably null Het
Tsc22d1 T C 14: 76,654,777 (GRCm39) S337P probably damaging Het
Wdfy4 A G 14: 32,811,860 (GRCm39) S1715P probably damaging 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
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
R9582:Sspn UTSW 6 145,899,334 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TTTGCTCAGCCCAGTCTCAG -3'
(R):5'- CGAAAGCCAGAATCCTGCTC -3'

Sequencing Primer
(F):5'- CACCACCGAGGGAACATGG -3'
(R):5'- AGAATCCTGCTCCCAGCCTTC -3'
Posted On 2015-02-05