Incidental Mutation 'R3796:Spag6l'
ID 272778
Institutional Source Beutler Lab
Gene Symbol Spag6l
Ensembl Gene ENSMUSG00000022783
Gene Name sperm associated antigen 6-like
Synonyms PF16, Spag6
MMRRC Submission 040757-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R3796 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16570880-16647227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16580916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 477 (I477N)
Ref Sequence ENSEMBL: ENSMUSP00000023468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023468]
AlphaFold Q9JLI7
Predicted Effect probably damaging
Transcript: ENSMUST00000023468
AA Change: I477N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023468
Gene: ENSMUSG00000022783
AA Change: I477N

ARM 30 70 2.26e-3 SMART
Blast:ARM 72 112 3e-15 BLAST
ARM 114 154 3e-8 SMART
ARM 156 196 4.91e-4 SMART
ARM 198 238 1.03e-6 SMART
ARM 240 280 3.13e0 SMART
ARM 282 322 4.82e1 SMART
ARM 323 365 7.34e-3 SMART
Blast:ARM 367 409 7e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154624
Meta Mutation Damage Score 0.8926 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Many homozygotes for a targeted null mutation exhibit reduced growth, hydrocephaly, and lethality by 8 weeks of age. Surviving males have sperm defects and are infertile, while females show reduced fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,489,662 (GRCm39) probably null Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Alppl2 A G 1: 87,016,076 (GRCm39) probably null Het
Armh3 A G 19: 45,910,049 (GRCm39) probably benign Het
Basp1 C A 15: 25,364,398 (GRCm39) probably benign Het
Clec14a G A 12: 58,314,695 (GRCm39) A309V probably benign Het
Clk2 A G 3: 89,082,996 (GRCm39) N424S probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Cwf19l1 A G 19: 44,103,006 (GRCm39) V403A probably damaging Het
Dnajc16 G T 4: 141,495,048 (GRCm39) D521E probably benign Het
Dnm2 T C 9: 21,416,783 (GRCm39) V772A probably benign Het
Dst G T 1: 34,220,996 (GRCm39) V2267F probably benign Het
Eif3d A G 15: 77,852,769 (GRCm39) F4S probably damaging Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Hmcn1 A G 1: 150,462,169 (GRCm39) Y5170H probably damaging Het
Kcna2 T A 3: 107,012,906 (GRCm39) L496I probably benign Het
Krt8 T C 15: 101,907,877 (GRCm39) I233V probably benign Het
Mfap1b A G 2: 121,304,386 (GRCm39) V3A probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Plbd2 A T 5: 120,630,933 (GRCm39) I224N probably damaging Het
Rab19 T C 6: 39,360,975 (GRCm39) V41A probably benign Het
Rrm1 T A 7: 102,114,910 (GRCm39) probably null Het
Sacs T C 14: 61,443,570 (GRCm39) V1872A possibly damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Shprh C T 10: 11,054,501 (GRCm39) L1037F possibly damaging Het
Slc24a3 A G 2: 145,458,601 (GRCm39) D527G probably damaging Het
Slc27a6 T C 18: 58,731,823 (GRCm39) probably benign Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Slc5a1 A G 5: 33,309,996 (GRCm39) D408G probably damaging Het
Srgap1 A G 10: 121,883,037 (GRCm39) V21A probably benign Het
Trim7 A G 11: 48,736,497 (GRCm39) probably null Het
Trpa1 T C 1: 14,963,488 (GRCm39) N578S possibly damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zfp518a G T 19: 40,903,754 (GRCm39) V1228F probably damaging Het
Other mutations in Spag6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Spag6l APN 16 16,598,597 (GRCm39) missense probably benign 0.20
IGL00928:Spag6l APN 16 16,584,877 (GRCm39) missense possibly damaging 0.52
IGL00929:Spag6l APN 16 16,584,877 (GRCm39) missense possibly damaging 0.52
IGL01793:Spag6l APN 16 16,599,721 (GRCm39) missense probably damaging 1.00
IGL02380:Spag6l APN 16 16,581,033 (GRCm39) critical splice acceptor site probably null
IGL03271:Spag6l APN 16 16,598,592 (GRCm39) missense probably damaging 1.00
R0284:Spag6l UTSW 16 16,598,630 (GRCm39) missense probably damaging 0.99
R0394:Spag6l UTSW 16 16,598,493 (GRCm39) missense probably benign
R0720:Spag6l UTSW 16 16,584,960 (GRCm39) splice site probably benign
R1205:Spag6l UTSW 16 16,605,171 (GRCm39) missense probably damaging 1.00
R1496:Spag6l UTSW 16 16,598,478 (GRCm39) splice site probably benign
R1707:Spag6l UTSW 16 16,598,492 (GRCm39) missense probably benign 0.00
R1926:Spag6l UTSW 16 16,580,921 (GRCm39) missense probably benign 0.00
R2255:Spag6l UTSW 16 16,595,203 (GRCm39) missense probably damaging 0.96
R2330:Spag6l UTSW 16 16,646,949 (GRCm39) missense probably benign
R3755:Spag6l UTSW 16 16,580,884 (GRCm39) critical splice donor site probably null
R4093:Spag6l UTSW 16 16,646,888 (GRCm39) missense probably benign 0.05
R4324:Spag6l UTSW 16 16,605,099 (GRCm39) missense probably benign 0.00
R4725:Spag6l UTSW 16 16,610,395 (GRCm39) missense probably damaging 1.00
R4766:Spag6l UTSW 16 16,595,254 (GRCm39) missense probably benign 0.03
R4877:Spag6l UTSW 16 16,599,622 (GRCm39) missense possibly damaging 0.47
R5753:Spag6l UTSW 16 16,584,831 (GRCm39) critical splice donor site probably null
R5958:Spag6l UTSW 16 16,580,885 (GRCm39) critical splice donor site probably null
R6107:Spag6l UTSW 16 16,599,652 (GRCm39) missense possibly damaging 0.56
R6894:Spag6l UTSW 16 16,601,802 (GRCm39) missense probably damaging 1.00
R7329:Spag6l UTSW 16 16,584,883 (GRCm39) missense probably benign
R7634:Spag6l UTSW 16 16,595,278 (GRCm39) missense probably damaging 0.97
R8240:Spag6l UTSW 16 16,580,889 (GRCm39) missense probably damaging 1.00
R8464:Spag6l UTSW 16 16,580,898 (GRCm39) missense probably damaging 0.97
R9207:Spag6l UTSW 16 16,598,492 (GRCm39) missense probably benign 0.00
R9682:Spag6l UTSW 16 16,646,981 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-03-25