Incidental Mutation 'IGL01830:Spag1'
ID154770
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 #IGL01830
Quality Score
Status
Chromosome15
Chromosomal Location36178099-36235621 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36221559 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 599 (S599R)
Ref Sequence ENSEMBL: ENSMUSP00000132233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047348] [ENSMUST00000171205]
Predicted Effect probably benign
Transcript: ENSMUST00000047348
AA Change: S599R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617
AA Change: S599R

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: S599R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617
AA Change: S599R

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg C A 16: 22,899,029 P252Q probably damaging Het
Anks4b T A 7: 120,173,996 N26K probably damaging Het
Arrdc5 C T 17: 56,294,652 V158I probably damaging Het
Catsper2 T C 2: 121,407,362 D179G probably damaging Het
Cd44 T C 2: 102,842,258 probably benign Het
Ceacam3 T A 7: 17,155,000 D231E possibly damaging Het
Cep57l1 C T 10: 41,728,653 C160Y probably benign Het
Chek2 T A 5: 110,873,508 L528Q probably benign Het
Ciita T C 16: 10,521,051 L973P probably damaging Het
Dock2 A T 11: 34,691,917 L637* probably null Het
Fsip2 A C 2: 82,984,929 I3669L probably benign Het
Gapvd1 A G 2: 34,688,956 V1218A probably benign Het
Gip T C 11: 96,028,724 L91S possibly damaging Het
Gp2 T C 7: 119,451,542 D322G probably damaging Het
Ift172 A G 5: 31,285,292 V177A probably damaging Het
Kng2 T C 16: 22,988,051 D466G probably damaging Het
Lpar5 G A 6: 125,081,822 A169T probably benign Het
Med13 C T 11: 86,288,928 probably benign Het
Meiob T A 17: 24,835,131 C391S probably benign Het
Mgat5 A G 1: 127,412,132 T417A probably damaging Het
Myo1b A T 1: 51,797,465 L279* probably null Het
Myo1g T A 11: 6,514,522 K513* probably null Het
Nxpe2 A T 9: 48,326,494 S154T probably damaging Het
Ogn C T 13: 49,609,247 Q22* probably null Het
Olfr1259 A G 2: 89,943,431 L228S probably benign Het
Pacs2 A T 12: 113,056,954 K316* probably null Het
Pelo T A 13: 115,088,595 I365F probably damaging Het
Phf3 G A 1: 30,814,067 Q1021* probably null Het
Pik3r4 A G 9: 105,644,955 D240G probably damaging Het
Pknox1 T C 17: 31,595,310 M203T probably benign Het
Pld1 T C 3: 28,048,004 probably benign Het
Rabgef1 G T 5: 130,212,066 C342F possibly damaging Het
Rbm19 A C 5: 120,124,695 K307T possibly damaging Het
Sdcbp2 T A 2: 151,589,574 I289N probably damaging Het
Slc5a12 G A 2: 110,597,806 G69R probably damaging Het
Ubr4 A T 4: 139,472,500 D4565V probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn1r225 T C 17: 20,502,455 S53P probably damaging Het
Xrcc1 T A 7: 24,573,342 probably benign 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
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
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 On2014-02-04