Incidental Mutation 'IGL02934:Spdya'
ID364241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spdya
Ensembl Gene ENSMUSG00000052525
Gene Namespeedy/RINGO cell cycle regulator family, member A
Synonymsspeedy/ringo, speedy A2, 4930548B21Rik, 4921517J08Rik, speedy A1, Spdy1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.428) question?
Stock #IGL02934
Quality Score
Status
Chromosome17
Chromosomal Location71552061-71589533 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 71556400 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 48 (N48I)
Ref Sequence ENSEMBL: ENSMUSP00000063214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064420] [ENSMUST00000124001] [ENSMUST00000144142] [ENSMUST00000167641]
Predicted Effect probably benign
Transcript: ENSMUST00000064420
AA Change: N48I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000063214
Gene: ENSMUSG00000052525
AA Change: N48I

DomainStartEndE-ValueType
Pfam:Spy1 68 198 8.2e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124001
AA Change: N48I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118426
Gene: ENSMUSG00000052525
AA Change: N48I

DomainStartEndE-ValueType
Pfam:Spy1 68 198 1.5e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137830
Predicted Effect probably benign
Transcript: ENSMUST00000144142
AA Change: N48I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118994
Gene: ENSMUSG00000052525
AA Change: N48I

DomainStartEndE-ValueType
Pfam:Spy1 68 198 2.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167641
AA Change: N48I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125912
Gene: ENSMUSG00000052525
AA Change: N48I

DomainStartEndE-ValueType
Pfam:Spy1 68 198 5.1e-69 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene results in impaired telomere attachment to the nuclear envelope during early meiosis, abnormal chromosome pairing and homologous synapsis, and meiotic prophase I arrest in male and female germ cells leading to infertility in both sexes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,162,359 R716* probably null Het
Abca8a A T 11: 110,040,588 N1246K probably damaging Het
Acadl A G 1: 66,836,975 Y396H probably benign Het
Apol7c A T 15: 77,526,118 S209R possibly damaging Het
Atp1a1 A T 3: 101,576,992 C990* probably null Het
Cachd1 C T 4: 100,968,098 S583L probably damaging Het
Cbfa2t3 T C 8: 122,647,758 T48A probably benign Het
Ccdc138 G T 10: 58,573,580 probably benign Het
Cenpe A G 3: 135,264,351 E2231G probably damaging Het
Cog3 T C 14: 75,741,689 I206V probably damaging Het
Cr2 A G 1: 195,154,325 probably benign Het
Ctdspl2 T C 2: 121,979,009 V147A probably damaging Het
Cyp4f13 A G 17: 32,929,871 V300A probably damaging Het
Dkk3 A T 7: 112,150,747 M72K probably damaging Het
Dock3 A T 9: 107,023,745 F340L probably benign Het
Fut1 A G 7: 45,618,703 H27R possibly damaging Het
Igkv4-80 A G 6: 69,016,856 V17A probably benign Het
Igkv9-123 G A 6: 67,954,396 P62L possibly damaging Het
Kmt2e T C 5: 23,497,884 S1021P probably damaging Het
Krt13 A C 11: 100,119,084 L320R probably damaging Het
Ldhal6b T C 17: 5,417,544 T372A probably benign Het
Manba T C 3: 135,544,749 V379A probably benign Het
Map1b C T 13: 99,435,131 V361I probably benign Het
Map4k1 A G 7: 28,994,106 S399G probably benign Het
Mff G A 1: 82,747,094 R229H probably damaging Het
Naga T C 15: 82,330,200 N370S possibly damaging Het
Ncor2 A T 5: 125,025,557 M2045K probably benign Het
Nipal1 T C 5: 72,647,907 L7P probably damaging Het
Olfr9 T A 10: 128,990,089 M59K probably damaging Het
Pcmt1 A T 10: 7,640,727 M187K probably benign Het
Perp A T 10: 18,855,772 T160S probably damaging Het
Rapgef6 G A 11: 54,625,864 D169N probably damaging Het
Sel1l G A 12: 91,809,936 Q711* probably null Het
Sept5 T C 16: 18,629,831 Y7C probably damaging Het
Stard6 T A 18: 70,496,104 probably benign Het
Sytl2 T C 7: 90,375,992 V396A probably benign Het
Tcaf3 T G 6: 42,593,898 M307L probably benign Het
Tdrd6 T C 17: 43,627,887 N757D probably benign Het
Tgm1 T A 14: 55,709,989 D305V probably damaging Het
Themis2 T A 4: 132,789,551 M213L probably damaging Het
Tmem184c A G 8: 77,597,820 V347A probably damaging Het
Tmem214 A G 5: 30,871,544 E159G probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Tshz1 A T 18: 84,013,090 S1064R probably damaging Het
Ubr2 C T 17: 46,957,340 E983K possibly damaging Het
Vmn1r23 A T 6: 57,925,929 I288N probably benign Het
Vmn2r97 T C 17: 18,929,685 V445A probably benign Het
Whrn G A 4: 63,416,105 T813M probably damaging Het
Xirp2 C T 2: 67,515,676 H2754Y probably benign Het
Other mutations in Spdya
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Spdya APN 17 71556325 missense possibly damaging 0.51
IGL01667:Spdya APN 17 71556259 start codon destroyed probably null 1.00
IGL02103:Spdya APN 17 71578247 missense probably benign 0.15
IGL03220:Spdya APN 17 71578291 missense possibly damaging 0.87
R0143:Spdya UTSW 17 71558640 missense probably damaging 0.96
R0570:Spdya UTSW 17 71562590 critical splice donor site probably null
R1666:Spdya UTSW 17 71578240 missense probably damaging 1.00
R4019:Spdya UTSW 17 71556314 missense possibly damaging 0.72
R4224:Spdya UTSW 17 71562524 missense probably benign 0.07
R4225:Spdya UTSW 17 71562524 missense probably benign 0.07
R4663:Spdya UTSW 17 71578344 missense probably benign 0.04
R5013:Spdya UTSW 17 71562504 missense possibly damaging 0.91
R5038:Spdya UTSW 17 71588566 intron probably benign
R5583:Spdya UTSW 17 71569131 missense probably damaging 0.99
Posted On2015-12-18