Incidental Mutation 'IGL02103:Spdya'
ID 279849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spdya
Ensembl Gene ENSMUSG00000052525
Gene Name speedy/RINGO cell cycle regulator family, member A
Synonyms speedy A1, speedy/ringo, Spdy1, 4921517J08Rik, 4930548B21Rik, speedy A2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.387) question?
Stock # IGL02103
Quality Score
Status
Chromosome 17
Chromosomal Location 71859056-71896528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71885242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 232 (K232R)
Ref Sequence ENSEMBL: ENSMUSP00000125912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064420] [ENSMUST00000124001] [ENSMUST00000144142] [ENSMUST00000167641]
AlphaFold Q5IBH7
Predicted Effect probably benign
Transcript: ENSMUST00000064420
AA Change: K232R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000063214
Gene: ENSMUSG00000052525
AA Change: K232R

DomainStartEndE-ValueType
Pfam:Spy1 68 198 8.2e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124001
AA Change: K232R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118426
Gene: ENSMUSG00000052525
AA Change: K232R

DomainStartEndE-ValueType
Pfam:Spy1 68 198 1.5e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137830
Predicted Effect probably benign
Transcript: ENSMUST00000144142
AA Change: K232R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000118994
Gene: ENSMUSG00000052525
AA Change: K232R

DomainStartEndE-ValueType
Pfam:Spy1 68 198 2.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167641
AA Change: K232R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125912
Gene: ENSMUSG00000052525
AA Change: K232R

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,659,138 (GRCm39) T206M probably benign Het
Adcy3 T A 12: 4,184,390 (GRCm39) V22D possibly damaging Het
Alb G A 5: 90,611,990 (GRCm39) E140K probably benign Het
Aph1a G A 3: 95,803,125 (GRCm39) V193I probably damaging Het
Asb2 G A 12: 103,299,755 (GRCm39) R178* probably null Het
Celf3 A T 3: 94,394,108 (GRCm39) Q137L probably damaging Het
Cmya5 T C 13: 93,228,635 (GRCm39) D2151G probably benign Het
Cuedc1 T A 11: 88,079,625 (GRCm39) S353T probably damaging Het
Dlg5 A C 14: 24,194,414 (GRCm39) L1709R probably damaging Het
Dst T C 1: 34,229,199 (GRCm39) I1939T possibly damaging Het
Emx2 A T 19: 59,450,130 (GRCm39) N149I probably benign Het
Fancm A G 12: 65,142,558 (GRCm39) D472G probably benign Het
Fasn T C 11: 120,702,762 (GRCm39) Y1700C probably damaging Het
Fat2 T A 11: 55,180,122 (GRCm39) R1406S probably damaging Het
Fat4 C A 3: 38,943,348 (GRCm39) T747K probably damaging Het
Fer A G 17: 64,445,923 (GRCm39) M795V probably benign Het
Gm5916 A G 9: 36,039,970 (GRCm39) L6P probably damaging Het
Gpr139 A G 7: 118,744,355 (GRCm39) F77L possibly damaging Het
Kcnu1 T C 8: 26,395,976 (GRCm39) S654P possibly damaging Het
Kdm5c T A X: 151,031,762 (GRCm39) F408L probably damaging Het
Kel A G 6: 41,679,323 (GRCm39) S147P probably benign Het
Klra5 A T 6: 129,888,307 (GRCm39) probably null Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Med18 A T 4: 132,186,977 (GRCm39) V174D probably damaging Het
Mgat4a A T 1: 37,502,007 (GRCm39) M247K possibly damaging Het
Mx2 A C 16: 97,345,795 (GRCm39) D71A probably damaging Het
Nxt1 G T 2: 148,517,564 (GRCm39) E102* probably null Het
Or14j1 A G 17: 38,146,169 (GRCm39) Q93R possibly damaging Het
Or3a1 A G 11: 74,225,862 (GRCm39) F65S probably damaging Het
Or7g16 T C 9: 18,727,005 (GRCm39) N195S probably damaging Het
Pcdhb16 T A 18: 37,613,161 (GRCm39) V707E probably benign Het
Pdzrn4 T A 15: 92,667,768 (GRCm39) V640E probably damaging Het
Piwil4 T C 9: 14,637,282 (GRCm39) probably null Het
Pla2g4a A T 1: 149,776,950 (GRCm39) D55E probably damaging Het
Plekhg2 C A 7: 28,059,501 (GRCm39) R1276L probably damaging Het
Psd4 G A 2: 24,290,540 (GRCm39) W539* probably null Het
Rae1 G A 2: 172,845,306 (GRCm39) E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 (GRCm39) F512I probably damaging Het
Rfx6 A G 10: 51,602,952 (GRCm39) D823G possibly damaging Het
Samt3 A T X: 85,090,759 (GRCm39) Q217L probably damaging Het
Selenbp2 A G 3: 94,605,438 (GRCm39) N134S probably null Het
Selenoo T C 15: 88,984,173 (GRCm39) V663A probably damaging Het
Sp4 G T 12: 118,263,284 (GRCm39) T254N probably damaging Het
Stom A T 2: 35,210,401 (GRCm39) V201E probably benign Het
Sycp3 A G 10: 88,302,334 (GRCm39) K108R possibly damaging Het
Usp2 A G 9: 44,000,425 (GRCm39) probably benign Het
Vmn1r226 T C 17: 20,907,926 (GRCm39) S53P probably damaging Het
Vmn2r14 C T 5: 109,372,349 (GRCm39) G47D probably damaging Het
Vwf T G 6: 125,623,318 (GRCm39) L1805W probably damaging Het
Washc3 A T 10: 88,037,687 (GRCm39) Q22L probably damaging Het
Wdr81 T A 11: 75,335,546 (GRCm39) D1761V probably damaging Het
Other mutations in Spdya
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Spdya APN 17 71,863,320 (GRCm39) missense possibly damaging 0.51
IGL01667:Spdya APN 17 71,863,254 (GRCm39) start codon destroyed probably null 1.00
IGL02934:Spdya APN 17 71,863,395 (GRCm39) missense probably benign 0.01
IGL03220:Spdya APN 17 71,885,286 (GRCm39) missense possibly damaging 0.87
R0143:Spdya UTSW 17 71,865,635 (GRCm39) missense probably damaging 0.96
R0570:Spdya UTSW 17 71,869,585 (GRCm39) critical splice donor site probably null
R1666:Spdya UTSW 17 71,885,235 (GRCm39) missense probably damaging 1.00
R4019:Spdya UTSW 17 71,863,309 (GRCm39) missense possibly damaging 0.72
R4224:Spdya UTSW 17 71,869,519 (GRCm39) missense probably benign 0.07
R4225:Spdya UTSW 17 71,869,519 (GRCm39) missense probably benign 0.07
R4663:Spdya UTSW 17 71,885,339 (GRCm39) missense probably benign 0.04
R5013:Spdya UTSW 17 71,869,499 (GRCm39) missense possibly damaging 0.91
R5038:Spdya UTSW 17 71,895,561 (GRCm39) intron probably benign
R5583:Spdya UTSW 17 71,876,126 (GRCm39) missense probably damaging 0.99
R8323:Spdya UTSW 17 71,895,587 (GRCm39) missense probably benign 0.39
R9664:Spdya UTSW 17 71,869,513 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16