Incidental Mutation 'IGL02810:Spag1'
ID360530
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 essential (E-score: 0.588) question?
Stock #IGL02810
Quality Score
Status
Chromosome15
Chromosomal Location36178099-36235621 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36234547 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 818 (N818D)
Ref Sequence ENSEMBL: ENSMUSP00000132233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047348] [ENSMUST00000171205]
Predicted Effect probably damaging
Transcript: ENSMUST00000047348
AA Change: N818D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617
AA Change: N818D

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 damaging
Transcript: ENSMUST00000171205
AA Change: N818D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617
AA Change: N818D

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,101,535 K1491E probably damaging Het
Abi3bp T C 16: 56,677,775 S696P probably damaging Het
Ago1 A G 4: 126,443,093 V273A probably benign Het
Bbs2 A G 8: 94,086,911 Y213H probably benign Het
Car10 T A 11: 93,578,696 Y142N probably damaging Het
Ccdc130 A G 8: 84,264,368 probably benign Het
Eml6 T C 11: 29,849,016 K415E possibly damaging Het
Exoc3l A T 8: 105,295,348 I41N probably damaging Het
Fam214b C A 4: 43,034,429 V389F probably damaging Het
Fat3 T C 9: 16,376,850 D459G probably damaging Het
Gabbr1 T C 17: 37,062,762 F401L probably damaging Het
Galnt10 G A 11: 57,725,586 R109Q probably damaging Het
Gpr108 C T 17: 57,242,742 D265N probably benign Het
Helb T C 10: 120,091,703 N834S possibly damaging Het
Igkv8-30 A G 6: 70,117,358 V23A probably benign Het
Iqck A T 7: 118,971,439 K271N possibly damaging Het
Klhl17 T C 4: 156,234,057 E36G possibly damaging Het
Klrb1b A G 6: 128,818,467 probably null Het
Mybl1 T C 1: 9,678,388 T328A probably benign Het
Mybl1 G A 1: 9,673,115 P571S probably damaging Het
Nav3 A T 10: 109,816,274 D873E probably damaging Het
Nms T C 1: 38,948,644 Y147H possibly damaging Het
Nrde2 A T 12: 100,143,758 M338K possibly damaging Het
Oasl2 T A 5: 114,897,791 F43I probably damaging Het
Oxr1 G A 15: 41,813,583 V91I probably benign Het
Pcnx2 C T 8: 125,887,203 C503Y probably benign Het
Polr2m A T 9: 71,483,566 I14K probably benign Het
Ppara T C 15: 85,777,677 S40P probably damaging Het
Shisa6 T A 11: 66,224,948 T288S possibly damaging Het
Slc26a5 T C 5: 21,813,383 probably benign Het
Srcap T C 7: 127,521,663 probably null Het
Tctn1 C T 5: 122,242,601 probably null Het
Triobp A G 15: 79,002,203 N507S possibly damaging Het
Ugt2b34 C A 5: 86,906,524 V133L probably benign Het
Zcchc6 A G 13: 59,782,016 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
IGL03010:Spag1 APN 15 36233273 missense probably benign 0.15
IGL03069:Spag1 APN 15 36224099 splice site probably benign
IGL03244:Spag1 APN 15 36234383 missense probably benign 0.00
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 On2015-12-18