Incidental Mutation 'R6475:Spesp1'
ID517388
Institutional Source Beutler Lab
Gene Symbol Spesp1
Ensembl Gene ENSMUSG00000046846
Gene Namesperm equatorial segment protein 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6475 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location62270729-62282208 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 62272433 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 398 (V398I)
Ref Sequence ENSEMBL: ENSMUSP00000058522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056949]
Predicted Effect probably benign
Transcript: ENSMUST00000056949
AA Change: V398I

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000058522
Gene: ENSMUSG00000046846
AA Change: V398I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SPESP1 19 371 5.8e-155 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 2010]
PHENOTYPE: Heterozygous and homozygous null mutant males show decreased fertilization frequency and delayed fertilization, otherwise homozygous null mice were healthy and showed no overt developmental abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb5 T A 8: 54,550,575 V44E probably damaging Het
Bmpr2 T A 1: 59,868,344 D865E probably damaging Het
Ccr4 A G 9: 114,492,979 V6A probably benign Het
Cd209a A T 8: 3,747,031 D102E probably damaging Het
Cdh18 A G 15: 23,226,936 D161G possibly damaging Het
Cog4 T A 8: 110,880,894 I671N possibly damaging Het
Col14a1 T G 15: 55,445,822 probably benign Het
Cpne6 A G 14: 55,513,653 D173G probably damaging Het
Daglb G T 5: 143,481,651 V275L probably benign Het
Defb43 G T 14: 63,011,872 probably null Het
Dhx30 A G 9: 110,085,052 V1022A possibly damaging Het
Egfem1 A T 3: 29,657,163 K297M probably damaging Het
Egfr A G 11: 16,891,259 I717V probably benign Het
Eif2ak1 T G 5: 143,818,010 probably null Het
Epb42 T C 2: 121,027,133 Y307C possibly damaging Het
Erlec1 G A 11: 30,948,442 Q10* probably null Het
Fam185a A G 5: 21,425,283 D39G probably benign Het
Fbxl4 T A 4: 22,433,661 D599E probably damaging Het
Fgfr2 T A 7: 130,201,120 T268S probably benign Het
Gabra1 A T 11: 42,162,555 M84K probably benign Het
Gba A G 3: 89,205,928 D222G probably benign Het
Gm3409 T A 5: 146,537,786 H37Q possibly damaging Het
Gm4559 A G 7: 142,274,150 C72R unknown Het
Grik4 T C 9: 42,629,008 N292S probably benign Het
Haao A G 17: 83,831,684 S274P possibly damaging Het
Hsd17b4 T A 18: 50,172,262 probably null Het
Igdcc4 A T 9: 65,120,321 S222C probably damaging Het
Iqub T A 6: 24,449,745 N707I probably damaging Het
Itgb7 T A 15: 102,216,266 D772V probably benign Het
Kif14 T C 1: 136,527,411 L1607P probably damaging Het
Klf5 A G 14: 99,301,381 T77A probably benign Het
Klhl29 C T 12: 5,091,030 V605I probably damaging Het
Map4k1 T C 7: 28,987,022 V105A probably damaging Het
Mctp2 A T 7: 72,200,344 probably null Het
Med12l A G 3: 59,257,079 E1364G probably damaging Het
Mup9 A T 4: 60,419,806 D30E possibly damaging Het
Naip1 T C 13: 100,409,088 R1311G probably damaging Het
Olfr1306 G A 2: 111,912,859 Q24* probably null Het
Olfr56 C T 11: 49,134,933 T247I probably benign Het
Olfr706 A G 7: 106,886,397 V140A probably benign Het
Olfr945 T A 9: 39,258,082 M197L probably benign Het
Pkd1l3 A C 8: 109,623,212 T230P unknown Het
Pthlh G T 6: 147,257,190 H91N probably damaging Het
Rapgef5 T A 12: 117,718,207 V239D probably damaging Het
Rita1 G A 5: 120,611,570 T26I probably damaging Het
Robo3 T C 9: 37,423,290 T615A probably damaging Het
Rpp38 T C 2: 3,329,607 D86G probably benign Het
Sec31a T C 5: 100,385,270 T539A probably damaging Het
Senp2 G T 16: 22,023,800 V205L probably damaging Het
Sept10 T C 10: 59,192,311 N63D possibly damaging Het
Sez6 A G 11: 77,973,844 Het
Tmbim7 G A 5: 3,664,319 G19S probably benign Het
Tnni3k A T 3: 154,941,058 L431* probably null Het
Trdn T A 10: 33,464,555 probably null Het
Tubb2a A G 13: 34,075,459 V116A possibly damaging Het
Ush1c T C 7: 46,229,219 D124G probably damaging Het
Zfp768 A T 7: 127,344,655 F103L probably damaging Het
Zfp799 A G 17: 32,820,846 S149P probably damaging Het
Other mutations in Spesp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02557:Spesp1 APN 9 62273134 missense possibly damaging 0.85
R0735:Spesp1 UTSW 9 62272685 missense probably benign 0.32
R1051:Spesp1 UTSW 9 62272642 missense possibly damaging 0.92
R2266:Spesp1 UTSW 9 62273552 missense probably damaging 0.99
R3153:Spesp1 UTSW 9 62282094 start gained probably benign
R3154:Spesp1 UTSW 9 62282094 start gained probably benign
R3737:Spesp1 UTSW 9 62273036 missense probably benign
R4035:Spesp1 UTSW 9 62273036 missense probably benign
R5425:Spesp1 UTSW 9 62282049 missense possibly damaging 0.48
R5461:Spesp1 UTSW 9 62272732 missense probably damaging 0.98
R6278:Spesp1 UTSW 9 62272639 missense probably benign 0.05
R6941:Spesp1 UTSW 9 62272870 missense probably damaging 0.98
R7003:Spesp1 UTSW 9 62282020 missense possibly damaging 0.86
R7611:Spesp1 UTSW 9 62272705 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TAAGGCCAGCTCTTCACAGC -3'
(R):5'- CAGGTCCAAGTTGTCAGATTATTTC -3'

Sequencing Primer
(F):5'- GCTCTTCACAGCTTAGATTAGTGAG -3'
(R):5'- CAATATTAAGCGTGTACCATCAGAGC -3'
Posted On2018-05-21