Incidental Mutation 'R4745:Spag8'
ID 356630
Institutional Source Beutler Lab
Gene Symbol Spag8
Ensembl Gene ENSMUSG00000066196
Gene Name sperm associated antigen 8
Synonyms
MMRRC Submission 042028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4745 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 43651335-43653594 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43651636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 413 (T413A)
Ref Sequence ENSEMBL: ENSMUSP00000081696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030191] [ENSMUST00000030192] [ENSMUST00000084646] [ENSMUST00000107870] [ENSMUST00000107874]
AlphaFold Q3V0Q6
Predicted Effect probably benign
Transcript: ENSMUST00000030191
SMART Domains Protein: ENSMUSP00000030191
Gene: ENSMUSG00000028469

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ANF_receptor 44 399 1.9e-45 PFAM
Pfam:Pkinase_Tyr 518 786 4.7e-39 PFAM
Pfam:Pkinase 535 785 1.2e-32 PFAM
CYCc 825 1019 3.28e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030192
SMART Domains Protein: ENSMUSP00000030192
Gene: ENSMUSG00000028470

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:DcpS_C 53 159 7.1e-25 PFAM
Pfam:HIT 61 158 1.5e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084646
AA Change: T413A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081696
Gene: ENSMUSG00000066196
AA Change: T413A

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
low complexity region 121 145 N/A INTRINSIC
low complexity region 148 175 N/A INTRINSIC
low complexity region 230 254 N/A INTRINSIC
low complexity region 303 316 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107870
SMART Domains Protein: ENSMUSP00000103502
Gene: ENSMUSG00000066196

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
low complexity region 121 145 N/A INTRINSIC
low complexity region 148 175 N/A INTRINSIC
low complexity region 230 254 N/A INTRINSIC
low complexity region 303 316 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107874
SMART Domains Protein: ENSMUSP00000103506
Gene: ENSMUSG00000028469

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ANF_receptor 44 399 5.7e-56 PFAM
Pfam:Pkinase_Tyr 518 786 4.1e-39 PFAM
Pfam:Pkinase 533 785 3.8e-34 PFAM
CYCc 825 989 4.37e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123883
Predicted Effect unknown
Transcript: ENSMUST00000149575
AA Change: T74A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151603
Predicted Effect probably benign
Transcript: ENSMUST00000128549
SMART Domains Protein: ENSMUSP00000114385
Gene: ENSMUSG00000028469

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Pkinase_Tyr 84 352 1e-39 PFAM
Pfam:Pkinase 101 351 2.6e-33 PFAM
CYCc 391 585 3.28e-111 SMART
Meta Mutation Damage Score 0.2000 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (89/92)
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 encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,526,427 (GRCm39) Y619C probably damaging Het
Adck1 A G 12: 88,368,949 (GRCm39) probably null Het
Agap3 A C 5: 24,656,123 (GRCm39) probably null Het
Ankib1 A T 5: 3,782,566 (GRCm39) H354Q probably damaging Het
Ankrd29 T G 18: 12,387,679 (GRCm39) N301T probably benign Het
Arhgef4 A G 1: 34,846,356 (GRCm39) T379A probably damaging Het
Arid1a A G 4: 133,480,417 (GRCm39) V169A probably benign Het
Bag2 T C 1: 33,787,417 (GRCm39) probably null Het
Bmt2 A C 6: 13,628,686 (GRCm39) Y332* probably null Het
Bpifb1 A T 2: 154,053,501 (GRCm39) K248* probably null Het
Caap1 C A 4: 94,444,751 (GRCm39) probably null Het
Calcr T A 6: 3,692,576 (GRCm39) Y389F probably damaging Het
Capn1 C T 19: 6,043,946 (GRCm39) V562I probably benign Het
Ccr1 T A 9: 123,763,985 (GRCm39) T182S probably benign Het
Ceacam15 T C 7: 16,407,259 (GRCm39) D86G probably benign Het
Cldnd1 C T 16: 58,550,006 (GRCm39) T63I probably benign Het
Col12a1 A T 9: 79,559,368 (GRCm39) probably null Het
Cystm1 A G 18: 36,526,348 (GRCm39) probably benign Het
Ddx55 T A 5: 124,705,028 (GRCm39) Y428* probably null Het
Ensa G A 3: 95,538,745 (GRCm39) G118D probably benign Het
Folh1 A T 7: 86,372,482 (GRCm39) probably null Het
Foxj2 C A 6: 122,814,948 (GRCm39) P328Q probably damaging Het
Fscn3 A G 6: 28,435,627 (GRCm39) I417V probably damaging Het
Galnt7 T C 8: 57,995,761 (GRCm39) probably benign Het
Gm11563 T A 11: 99,549,246 (GRCm39) *169C probably null Het
Hfm1 A T 5: 107,049,709 (GRCm39) D417E possibly damaging Het
Ighv15-2 A G 12: 114,528,230 (GRCm39) S107P probably damaging Het
Itsn2 A G 12: 4,711,944 (GRCm39) D904G probably damaging Het
Kif1b A T 4: 149,322,339 (GRCm39) L860* probably null Het
Krt79 T C 15: 101,839,119 (GRCm39) E450G probably damaging Het
Lama1 T C 17: 68,045,775 (GRCm39) S227P probably damaging Het
Lamp5 C A 2: 135,902,786 (GRCm39) H168Q probably benign Het
Lilra5 A T 7: 4,245,076 (GRCm39) Q240L possibly damaging Het
Lrp1 A T 10: 127,385,813 (GRCm39) C3521S probably benign Het
Mroh1 T A 15: 76,292,730 (GRCm39) probably null Het
Nlrp4g A T 9: 124,349,515 (GRCm38) noncoding transcript Het
Nr2f6 A T 8: 71,831,179 (GRCm39) I70N probably benign Het
Nr4a2 T A 2: 57,000,163 (GRCm39) D311V probably damaging Het
Odad2 G A 18: 7,286,763 (GRCm39) T156M probably benign Het
Or10w1 T A 19: 13,632,750 (GRCm39) M319K probably benign Het
Or10x4 T C 1: 174,219,442 (GRCm39) L269P probably damaging Het
Or52n20 T A 7: 104,320,711 (GRCm39) F267L probably damaging Het
Pcdhb6 C A 18: 37,468,426 (GRCm39) A449D possibly damaging Het
Pcgf6 A G 19: 47,036,545 (GRCm39) probably null Het
Prc1 C A 7: 79,962,911 (GRCm39) H131Q probably benign Het
Ptprq C A 10: 107,360,114 (GRCm39) R2187L probably damaging Het
Rasl2-9 C A 7: 5,128,702 (GRCm39) R76L possibly damaging Het
Rdh16f1 A T 10: 127,626,685 (GRCm39) Y246F probably benign Het
Rit1 T C 3: 88,624,982 (GRCm39) probably benign Het
Sash1 A G 10: 8,605,672 (GRCm39) V906A probably benign Het
Scnn1b T C 7: 121,501,509 (GRCm39) V108A probably benign Het
Sema4f A T 6: 82,895,265 (GRCm39) I356N probably damaging Het
Shc4 A T 2: 125,491,197 (GRCm39) L447Q probably damaging Het
Slc24a1 T C 9: 64,856,758 (GRCm39) M50V unknown Het
Slc28a3 T A 13: 58,722,077 (GRCm39) D269V possibly damaging Het
Slc35e1 A G 8: 73,246,166 (GRCm39) S89P possibly damaging Het
Smpd5 T A 15: 76,179,008 (GRCm39) H125Q probably benign Het
Snapc2 A G 8: 4,304,578 (GRCm39) T31A probably damaging Het
Sox5 G C 6: 143,779,214 (GRCm39) H606D possibly damaging Het
Spag6 A G 2: 18,742,107 (GRCm39) T367A possibly damaging Het
Sptlc3 G A 2: 139,389,087 (GRCm39) G156R probably damaging Het
Stx19 A G 16: 62,642,783 (GRCm39) T200A probably benign Het
Tas2r116 A G 6: 132,832,668 (GRCm39) T90A probably benign Het
Tasor2 G A 13: 3,640,069 (GRCm39) T356I probably benign Het
Tbl3 A G 17: 24,924,304 (GRCm39) probably benign Het
Tekt5 G T 16: 10,213,058 (GRCm39) P76T probably damaging Het
Tjp2 C T 19: 24,074,030 (GRCm39) E1086K possibly damaging Het
Topbp1 T C 9: 103,200,770 (GRCm39) L601P probably damaging Het
Trav16 T A 14: 53,980,934 (GRCm39) M41K possibly damaging Het
Trav6-5 C A 14: 53,728,960 (GRCm39) N72K probably benign Het
Trpm3 C G 19: 22,692,659 (GRCm39) T250S possibly damaging Het
Vps35 A T 8: 85,987,891 (GRCm39) D753E probably benign Het
Vstm2a A T 11: 16,213,061 (GRCm39) N149Y probably damaging Het
Vwa2 G T 19: 56,895,318 (GRCm39) M497I probably benign Het
Zfat C A 15: 68,052,223 (GRCm39) V517L probably benign Het
Zfp169 C A 13: 48,643,708 (GRCm39) R473L possibly damaging Het
Zfp672 T C 11: 58,220,324 (GRCm39) probably benign Het
Zranb1 T C 7: 132,574,443 (GRCm39) V420A probably damaging Het
Other mutations in Spag8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Spag8 APN 4 43,652,890 (GRCm39) nonsense probably null
IGL01766:Spag8 APN 4 43,653,209 (GRCm39) unclassified probably benign
IGL02043:Spag8 APN 4 43,653,134 (GRCm39) unclassified probably benign
IGL02324:Spag8 APN 4 43,651,781 (GRCm39) missense probably damaging 1.00
IGL02812:Spag8 APN 4 43,651,755 (GRCm39) missense probably damaging 0.96
IGL03336:Spag8 APN 4 43,652,114 (GRCm39) splice site probably benign
R1519:Spag8 UTSW 4 43,652,777 (GRCm39) missense possibly damaging 0.88
R1799:Spag8 UTSW 4 43,653,345 (GRCm39) unclassified probably benign
R1799:Spag8 UTSW 4 43,653,087 (GRCm39) unclassified probably benign
R2212:Spag8 UTSW 4 43,651,606 (GRCm39) missense probably damaging 1.00
R2338:Spag8 UTSW 4 43,652,826 (GRCm39) missense probably benign 0.06
R3412:Spag8 UTSW 4 43,651,606 (GRCm39) missense probably damaging 1.00
R3413:Spag8 UTSW 4 43,651,606 (GRCm39) missense probably damaging 1.00
R3414:Spag8 UTSW 4 43,651,606 (GRCm39) missense probably damaging 1.00
R4666:Spag8 UTSW 4 43,653,408 (GRCm39) unclassified probably benign
R4670:Spag8 UTSW 4 43,653,378 (GRCm39) unclassified probably benign
R4795:Spag8 UTSW 4 43,652,035 (GRCm39) missense possibly damaging 0.55
R5409:Spag8 UTSW 4 43,653,134 (GRCm39) unclassified probably benign
R5992:Spag8 UTSW 4 43,651,534 (GRCm39) missense probably benign 0.06
R6192:Spag8 UTSW 4 43,652,458 (GRCm39) missense probably damaging 1.00
R6333:Spag8 UTSW 4 43,653,186 (GRCm39) unclassified probably benign
R7216:Spag8 UTSW 4 43,652,034 (GRCm39) missense possibly damaging 0.55
R8923:Spag8 UTSW 4 43,651,471 (GRCm39) missense probably damaging 0.99
R8996:Spag8 UTSW 4 43,651,998 (GRCm39) missense probably damaging 1.00
R9116:Spag8 UTSW 4 43,653,231 (GRCm39) missense unknown
R9705:Spag8 UTSW 4 43,652,366 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GGGGACAGAGAATCAACTCC -3'
(R):5'- TCATGATTACCGCCAGGAGC -3'

Sequencing Primer
(F):5'- GAAACTGATTTCAAATCCCACGTCTG -3'
(R):5'- GAGCAGCCTGAAACCTTCTG -3'
Posted On 2015-11-11