Incidental Mutation 'IGL03069:Spag1'
ID409849
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 #IGL03069
Quality Score
Status
Chromosome15
Chromosomal Location36178099-36235621 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 36224099 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047348] [ENSMUST00000171205]
Predicted Effect probably benign
Transcript: ENSMUST00000047348
SMART Domains Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617

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
SMART Domains Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T G 8: 13,557,704 probably null Het
Acpp T C 9: 104,320,005 E145G possibly damaging Het
Ankrd28 T A 14: 31,755,786 K42* probably null Het
Arsg A T 11: 109,563,256 K429N probably damaging Het
Bsn G A 9: 108,114,263 T1430I probably damaging Het
Calu A G 6: 29,356,583 D36G possibly damaging Het
Ccdc18 T C 5: 108,228,901 S1403P probably damaging Het
Cdca2 A G 14: 67,714,936 probably benign Het
Cfh C A 1: 140,099,055 probably benign Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dennd4c C A 4: 86,774,437 Y61* probably null Het
Diaph3 A G 14: 86,772,119 S1075P probably damaging Het
Dpp7 T A 2: 25,355,723 probably null Het
Dtd1 T A 2: 144,747,061 probably benign Het
Dtl C A 1: 191,556,896 probably benign Het
Exoc3l4 A G 12: 111,424,023 D344G probably damaging Het
Hsp90ab1 A T 17: 45,569,028 C159S possibly damaging Het
Kcnip2 T C 19: 45,796,271 probably benign Het
Krba1 A G 6: 48,414,549 T755A possibly damaging Het
L2hgdh C T 12: 69,692,399 V433I probably benign Het
Lamc1 A T 1: 153,239,381 L1050I probably damaging Het
Lgals4 A T 7: 28,840,918 I213L probably benign Het
Lysmd1 A G 3: 95,137,634 I64V probably damaging Het
Mfsd4b4 A C 10: 39,892,315 C261G probably benign Het
Mrgprb3 T A 7: 48,643,450 I118F possibly damaging Het
Mtmr2 T A 9: 13,793,205 Y137* probably null Het
Ofcc1 A T 13: 40,072,664 H797Q probably benign Het
Olfr1176 C T 2: 88,340,299 probably null Het
Olfr935 A T 9: 38,995,432 M1K probably null Het
Omd A T 13: 49,592,394 probably benign Het
Polr3a T A 14: 24,461,740 D916V probably damaging Het
Prpf38a T C 4: 108,575,431 Y117C probably damaging Het
Scn11a C T 9: 119,789,963 G771D probably benign Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Snx1 T A 9: 66,094,624 I306F probably benign Het
Snx31 T A 15: 36,525,603 R317* probably null Het
Sorl1 T C 9: 41,991,426 T1612A probably benign Het
Sssca1 G T 19: 5,730,422 L183I possibly damaging Het
Stambp A G 6: 83,561,932 F162S probably damaging Het
Tkfc T A 19: 10,599,154 M122L probably benign Het
Tnni3k T A 3: 154,941,605 probably null Het
Trim56 T C 5: 137,113,762 Q300R probably damaging Het
Ttc24 T A 3: 88,070,101 T113S probably benign Het
Xirp2 A T 2: 67,509,532 T706S possibly damaging Het
Yipf5 T A 18: 40,206,237 probably benign Het
Zfp202 T C 9: 40,211,399 S486P probably damaging Het
Zfp407 A G 18: 84,350,975 S1676P probably damaging 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
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 On2016-08-02