Incidental Mutation 'IGL02812:Spag8'
ID 360611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spag8
Ensembl Gene ENSMUSG00000066196
Gene Name sperm associated antigen 8
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02812
Quality Score
Status
Chromosome 4
Chromosomal Location 43651335-43653594 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43651755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 404 (R404W)
Ref Sequence ENSEMBL: ENSMUSP00000103502 (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: R404W

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081696
Gene: ENSMUSG00000066196
AA Change: R404W

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 damaging
Transcript: ENSMUST00000107870
AA Change: R404W

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103502
Gene: ENSMUSG00000066196
AA Change: R404W

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: R65W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143160
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
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,841,881 (GRCm39) V1005L possibly damaging Het
Abcc9 A G 6: 142,643,516 (GRCm39) S11P possibly damaging Het
Acsl1 A T 8: 46,945,873 (GRCm39) E2V possibly damaging Het
Aox3 G A 1: 58,205,055 (GRCm39) V757I probably benign Het
Aqp4 T C 18: 15,530,632 (GRCm39) probably null Het
Arhgef7 A G 8: 11,831,245 (GRCm39) probably benign Het
Armc9 T A 1: 86,172,293 (GRCm39) D2E probably damaging Het
Celsr2 G A 3: 108,321,429 (GRCm39) P461L probably benign Het
Cep170 T C 1: 176,570,080 (GRCm39) D1339G probably damaging Het
Clk1 T A 1: 58,453,635 (GRCm39) N317I probably damaging Het
Comp G A 8: 70,829,337 (GRCm39) G305S possibly damaging Het
Depdc5 G A 5: 33,050,712 (GRCm39) probably benign Het
Dse T C 10: 34,059,712 (GRCm39) E131G probably damaging Het
Ecpas T A 4: 58,864,343 (GRCm39) probably benign Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Epha2 A G 4: 141,046,230 (GRCm39) probably benign Het
Fam243 A G 16: 92,117,616 (GRCm39) I224T probably damaging Het
Fmnl1 A G 11: 103,087,592 (GRCm39) probably benign Het
Gbp9 T C 5: 105,231,624 (GRCm39) N321D probably damaging Het
Gm5884 A G 6: 128,622,738 (GRCm39) noncoding transcript Het
Gp2 A T 7: 119,051,452 (GRCm39) N254K probably benign Het
Hgh1 T A 15: 76,253,754 (GRCm39) probably null Het
Inpp5f A G 7: 128,284,030 (GRCm39) N543S probably damaging Het
Ints7 T C 1: 191,351,853 (GRCm39) V854A probably damaging Het
Itgb1bp1 T G 12: 21,320,879 (GRCm39) probably benign Het
Lrrtm4 A T 6: 79,998,947 (GRCm39) N120Y probably damaging Het
Map3k5 T C 10: 19,900,782 (GRCm39) S319P probably damaging Het
Mc4r A G 18: 66,992,318 (GRCm39) L265S probably damaging Het
Morc1 T C 16: 48,378,869 (GRCm39) probably benign Het
Mre11a T A 9: 14,701,966 (GRCm39) probably null Het
Msh4 T C 3: 153,607,037 (GRCm39) probably benign Het
Mterf4 A G 1: 93,232,455 (GRCm39) L132P probably damaging Het
Myo15a A T 11: 60,368,005 (GRCm39) E255V probably benign Het
Myot T C 18: 44,479,127 (GRCm39) V288A probably damaging Het
Nipa2 T C 7: 55,592,766 (GRCm39) Y53C probably damaging Het
Npas1 T A 7: 16,190,041 (GRCm39) I502F probably damaging Het
Or12j5 C T 7: 140,083,533 (GRCm39) V280M probably damaging Het
Or2y1d T A 11: 49,321,749 (GRCm39) W149R probably damaging Het
Osbp2 A G 11: 3,664,637 (GRCm39) V565A probably benign Het
Otof A G 5: 30,531,426 (GRCm39) S1666P probably benign Het
Per3 A C 4: 151,108,927 (GRCm39) S476A probably damaging Het
Pja2 T C 17: 64,604,789 (GRCm39) N465D probably damaging Het
Pla2g4c T C 7: 13,082,290 (GRCm39) F512S probably damaging Het
Plcd4 T A 1: 74,596,967 (GRCm39) L403Q probably damaging Het
Psg26 T C 7: 18,209,080 (GRCm39) T443A probably benign Het
Snapc4 T A 2: 26,259,384 (GRCm39) T589S probably benign Het
Tdrd7 A G 4: 45,994,406 (GRCm39) D268G probably benign Het
Tfap2d A G 1: 19,213,151 (GRCm39) H325R possibly damaging Het
Vmn1r59 C T 7: 5,457,176 (GRCm39) V195I probably damaging Het
Vmn1r67 G A 7: 10,180,945 (GRCm39) E70K probably benign Het
Wdr18 T A 10: 79,796,898 (GRCm39) N91K possibly damaging Het
Zbtb7b T C 3: 89,287,081 (GRCm39) T463A 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
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
R4745:Spag8 UTSW 4 43,651,636 (GRCm39) missense probably damaging 0.98
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
Posted On 2015-12-18