Incidental Mutation 'IGL03244:Spag1'
ID414344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spag1
Ensembl Gene ENSMUSG00000037617
Gene Namesperm associated antigen 1
Synonymstpis, TPR-containing protein involved in spermatogenesis
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.471) question?
Stock #IGL03244
Quality Score
Status
Chromosome15
Chromosomal Location36178099-36235621 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36234383 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 763 (D763V)
Ref Sequence ENSEMBL: ENSMUSP00000132233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047348] [ENSMUST00000171205]
Predicted Effect probably benign
Transcript: ENSMUST00000047348
AA Change: D763V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617
AA Change: D763V

DomainStartEndE-ValueType
TPR 213 246 1.88e0 SMART
TPR 247 279 3.47e-4 SMART
TPR 280 313 8.23e-6 SMART
low complexity region 383 400 N/A INTRINSIC
TPR 430 463 5.92e1 SMART
TPR 472 505 2.49e-5 SMART
TPR 506 539 5.31e0 SMART
TPR 606 639 7.63e-1 SMART
TPR 640 673 1.38e-7 SMART
Pfam:RPAP3_C 777 869 1.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171205
AA Change: D763V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617
AA Change: D763V

DomainStartEndE-ValueType
TPR 213 246 1.88e0 SMART
TPR 247 279 3.47e-4 SMART
TPR 280 313 8.23e-6 SMART
low complexity region 383 400 N/A INTRINSIC
TPR 430 463 5.92e1 SMART
TPR 472 505 2.49e-5 SMART
TPR 506 539 5.31e0 SMART
TPR 606 639 7.63e-1 SMART
TPR 640 673 1.38e-7 SMART
Pfam:RPAP3_C 777 869 1.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227849
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 expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aoc1 T C 6: 48,905,822 Y233H possibly damaging Het
Apaf1 A T 10: 91,049,349 probably benign Het
Asah2 T C 19: 31,986,942 Y696C probably damaging Het
Atp8b3 A T 10: 80,534,458 D112E probably damaging Het
B3gat3 T C 19: 8,925,851 Y191H probably damaging Het
Capns2 T C 8: 92,902,110 I209T probably damaging Het
Ccnl2 T C 4: 155,821,022 I303T probably benign Het
Cdk5rap2 A T 4: 70,281,435 S817R probably benign Het
Cep57 A T 9: 13,818,387 L36* probably null Het
Cers4 T A 8: 4,516,878 V60E probably damaging Het
Ces2e T C 8: 104,928,819 Y125H probably benign Het
Cyp4f18 T C 8: 71,988,645 E497G probably benign Het
Ddx24 A T 12: 103,417,605 M575K possibly damaging Het
Dmxl2 A T 9: 54,416,371 V1243E probably damaging Het
Elf2 A T 3: 51,257,772 Y270* probably null Het
Ep400 A G 5: 110,727,563 L844S unknown Het
F13a1 A T 13: 36,988,896 I170N possibly damaging Het
Gm16506 T A 14: 43,724,146 probably benign Het
Grm4 A G 17: 27,434,823 F463L probably damaging Het
H2-M10.2 A T 17: 36,285,571 N127K probably benign Het
Lrrc49 T C 9: 60,587,857 Y691C probably damaging Het
Mbip A C 12: 56,337,762 probably null Het
Olfr825 T A 10: 130,162,400 K309* probably null Het
Plod1 C T 4: 147,923,123 probably null Het
Primpol A G 8: 46,586,440 W382R probably damaging Het
Rufy2 A G 10: 63,004,704 E418G probably benign Het
Samm50 T C 15: 84,214,140 V460A probably benign Het
Senp2 T C 16: 22,040,579 V460A probably damaging Het
Simc1 A G 13: 54,550,629 H453R probably benign Het
Slc22a22 A G 15: 57,249,552 probably benign Het
Thsd7a T A 6: 12,504,168 probably benign Het
Tppp G T 13: 74,021,416 V92F possibly damaging Het
Vmn1r32 G A 6: 66,553,505 L96F probably damaging Het
Vmn2r53 C A 7: 12,606,508 A13S probably damaging Het
Vmn2r75 G A 7: 86,171,725 probably benign Het
Zfp750 C A 11: 121,513,687 G121* probably null Het
Other mutations in Spag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Spag1 APN 15 36195416 nonsense probably null
IGL00465:Spag1 APN 15 36183821 unclassified probably benign
IGL00694:Spag1 APN 15 36227171 missense possibly damaging 0.94
IGL01479:Spag1 APN 15 36233199 splice site probably benign
IGL01830:Spag1 APN 15 36221559 missense probably benign 0.01
IGL02072:Spag1 APN 15 36190512 missense probably damaging 1.00
IGL02232:Spag1 APN 15 36221564 missense probably benign 0.00
IGL02727:Spag1 APN 15 36234818 missense probably damaging 1.00
IGL02810:Spag1 APN 15 36234547 missense probably damaging 1.00
IGL03010:Spag1 APN 15 36233273 missense probably benign 0.15
IGL03069:Spag1 APN 15 36224099 splice site probably benign
FR4737:Spag1 UTSW 15 36197733 critical splice acceptor site probably benign
R0863:Spag1 UTSW 15 36192047 missense probably damaging 1.00
R1177:Spag1 UTSW 15 36234767 missense probably benign 0.21
R1878:Spag1 UTSW 15 36181770 missense probably damaging 1.00
R1879:Spag1 UTSW 15 36181770 missense probably damaging 1.00
R2086:Spag1 UTSW 15 36227141 missense probably damaging 0.98
R2093:Spag1 UTSW 15 36224130 missense probably damaging 1.00
R2231:Spag1 UTSW 15 36191167 missense probably benign 0.01
R4030:Spag1 UTSW 15 36234301 missense probably damaging 0.99
R4893:Spag1 UTSW 15 36197846 critical splice donor site probably null
R5047:Spag1 UTSW 15 36195442 missense probably damaging 1.00
R5505:Spag1 UTSW 15 36234626 missense probably damaging 0.99
R5741:Spag1 UTSW 15 36183703 missense possibly damaging 0.79
R5805:Spag1 UTSW 15 36200284 missense probably damaging 1.00
R6221:Spag1 UTSW 15 36197803 missense probably benign 0.30
R6236:Spag1 UTSW 15 36211135 missense probably damaging 1.00
R6556:Spag1 UTSW 15 36195407 missense probably damaging 1.00
R6800:Spag1 UTSW 15 36197749 nonsense probably null
Posted On2016-08-02