Incidental Mutation 'R3624:Spag11a'
ID 269324
Institutional Source Beutler Lab
Gene Symbol Spag11a
Ensembl Gene ENSMUSG00000079842
Gene Name sperm associated antigen 11A
Synonyms Ep2e, Bin1b, 9230111C08Rik, Spag11
MMRRC Submission 040678-MU
Accession Numbers
Essential gene? Not available question?
Stock # R3624 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 19207902-19209594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19209417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 69 (D69G)
Ref Sequence ENSEMBL: ENSMUSP00000148411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058955] [ENSMUST00000212226] [ENSMUST00000212965]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000058955
AA Change: D67G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055391
Gene: ENSMUSG00000079842
AA Change: D67G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Defensin_beta 26 61 2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212226
AA Change: D69G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212619
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212621
Predicted Effect probably benign
Transcript: ENSMUST00000212965
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,080,348 (GRCm39) T364A probably benign Het
Adcy2 T C 13: 68,790,650 (GRCm39) T905A probably damaging Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Ankrd53 A G 6: 83,740,244 (GRCm39) E104G possibly damaging Het
Anks1 T C 17: 28,205,262 (GRCm39) F274L probably damaging Het
Btaf1 A G 19: 36,958,486 (GRCm39) T668A probably benign Het
Coch A G 12: 51,649,609 (GRCm39) I307V probably benign Het
Colec11 T C 12: 28,644,907 (GRCm39) M196V probably benign Het
Cyp2c54 A G 19: 40,058,688 (GRCm39) I248T probably benign Het
D17H6S53E A G 17: 35,346,512 (GRCm39) E141G probably benign Het
Dffb T C 4: 154,049,976 (GRCm39) T296A probably damaging Het
Dock8 A G 19: 25,057,241 (GRCm39) Q216R probably benign Het
Elp1 C T 4: 56,798,708 (GRCm39) V85M possibly damaging Het
Emilin3 T C 2: 160,750,177 (GRCm39) D477G possibly damaging Het
Esp4 A G 17: 40,913,484 (GRCm39) K117R unknown Het
Fam186b A G 15: 99,178,396 (GRCm39) L310S probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,957 (GRCm39) T20A possibly damaging Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Irs2 C T 8: 11,057,643 (GRCm39) G263D probably damaging Het
Itih3 A G 14: 30,636,700 (GRCm39) Y38H probably damaging Het
Kif21a A G 15: 90,849,798 (GRCm39) V35A probably damaging Het
Klhl14 A T 18: 21,690,953 (GRCm39) V499D probably damaging Het
Kmt2d T C 15: 98,740,783 (GRCm39) probably benign Het
Loxl4 A G 19: 42,596,015 (GRCm39) V146A probably benign Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Mga A G 2: 119,772,245 (GRCm39) T1702A probably damaging Het
Midn A G 10: 79,986,144 (GRCm39) D78G probably benign Het
Mlh3 C T 12: 85,315,169 (GRCm39) C339Y probably damaging Het
Mog T C 17: 37,323,338 (GRCm39) H200R possibly damaging Het
Nadk2 T A 15: 9,084,303 (GRCm39) W139R probably damaging Het
Nsd3 A G 8: 26,152,835 (GRCm39) T392A probably damaging Het
Pbld2 T C 10: 62,897,470 (GRCm39) L57P probably damaging Het
Racgap1 T A 15: 99,540,772 (GRCm39) N26I probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rspry1 A G 8: 95,376,405 (GRCm39) D309G probably damaging Het
Sgcz T C 8: 38,420,201 (GRCm39) E17G probably damaging Het
Slc16a10 A G 10: 40,017,890 (GRCm39) V48A probably benign Het
Smad1 A G 8: 80,066,327 (GRCm39) V450A probably benign Het
Smad9 C T 3: 54,696,705 (GRCm39) R257W probably damaging Het
Snrpb C A 2: 130,017,299 (GRCm39) R73L probably null Het
Sptbn1 T C 11: 30,090,593 (GRCm39) H559R probably damaging Het
Strn3 T C 12: 51,707,999 (GRCm39) Y132C possibly damaging Het
Tasor2 T C 13: 3,645,556 (GRCm39) T98A probably benign Het
Tgm6 T A 2: 129,993,681 (GRCm39) V640E possibly damaging Het
Trim54 G A 5: 31,294,320 (GRCm39) V319M possibly damaging Het
Trpm1 A G 7: 63,894,601 (GRCm39) Y951C probably damaging Het
Ube3a T A 7: 58,921,860 (GRCm39) N77K probably damaging Het
Uhrf1 C T 17: 56,624,023 (GRCm39) T482I probably damaging Het
Veph1 C T 3: 66,122,858 (GRCm39) V224I probably benign Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn1r88 A C 7: 12,911,790 (GRCm39) M49L probably benign Het
Vmn2r24 A G 6: 123,792,997 (GRCm39) R775G probably damaging Het
Zfp60 T A 7: 27,448,753 (GRCm39) F474I probably benign Het
Zkscan8 C T 13: 21,704,946 (GRCm39) R259Q probably damaging Het
Other mutations in Spag11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Spag11a APN 8 19,208,005 (GRCm39) missense probably damaging 0.97
R4723:Spag11a UTSW 8 19,209,398 (GRCm39) missense possibly damaging 0.51
R4980:Spag11a UTSW 8 19,207,962 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- TGGCACTGAGACCAAGCTTTG -3'
(R):5'- AAAATCCTTTCACCGGACCTTTG -3'

Sequencing Primer
(F):5'- AGCAGATTCTTCACTGAGGC -3'
(R):5'- CGGACCTTTGCCTCGGTGATAG -3'
Posted On 2015-02-19