Incidental Mutation 'IGL02002:Spdye4a'
ID183076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spdye4a
Ensembl Gene ENSMUSG00000039296
Gene Namespeedy/RINGO cell cycle regulator family, member E4A
Synonymsspeedy/ringo, Spdyb, 4930445A17Rik, speedy B, 4930451F05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL02002
Quality Score
Status
Chromosome5
Chromosomal Location143216316-143226890 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 143225705 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 35 (I35F)
Ref Sequence ENSEMBL: ENSMUSP00000082882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085733] [ENSMUST00000160502] [ENSMUST00000195900]
Predicted Effect possibly damaging
Transcript: ENSMUST00000085733
AA Change: I35F

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000082882
Gene: ENSMUSG00000039296
AA Change: I35F

DomainStartEndE-ValueType
low complexity region 91 100 N/A INTRINSIC
Pfam:Spy1 135 264 2.6e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159838
Predicted Effect probably benign
Transcript: ENSMUST00000160502
SMART Domains Protein: ENSMUSP00000123959
Gene: ENSMUSG00000039296

DomainStartEndE-ValueType
low complexity region 54 63 N/A INTRINSIC
Pfam:Spy1 98 161 7.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195900
SMART Domains Protein: ENSMUSP00000142788
Gene: ENSMUSG00000039296

DomainStartEndE-ValueType
low complexity region 54 63 N/A INTRINSIC
Pfam:Spy1 98 227 4.9e-65 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,152,796 Y1248F probably damaging Het
Abcg5 G T 17: 84,682,051 Y76* probably null Het
Acadsb T A 7: 131,428,529 V135E probably damaging Het
Acap1 A G 11: 69,884,460 Y326H probably damaging Het
Actl11 T A 9: 107,929,330 V284D probably benign Het
Adcy10 G T 1: 165,521,843 D428Y probably damaging Het
Akap8 A G 17: 32,309,496 C481R probably damaging Het
Amotl2 G A 9: 102,725,117 A26T probably damaging Het
Apob T C 12: 7,994,822 V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 N148K probably damaging Het
Ccdc149 G A 5: 52,406,079 T124M probably damaging Het
Cd320 A G 17: 33,843,240 probably benign Het
Clca4b T C 3: 144,932,433 T23A probably benign Het
Col22a1 A G 15: 71,811,097 probably benign Het
Col24a1 T A 3: 145,356,944 F675I possibly damaging Het
Col6a3 A G 1: 90,782,136 probably benign Het
Dap3 A T 3: 88,936,228 M19K probably benign Het
Dsg2 A G 18: 20,579,176 D123G probably damaging Het
Dysf T A 6: 84,210,787 probably benign Het
Erbb4 A G 1: 68,080,726 S853P probably damaging Het
Fbn2 A G 18: 58,114,553 M423T probably benign Het
Fgfr1 T C 8: 25,555,711 Y112H probably damaging Het
Gbp7 G A 3: 142,538,900 A203T probably damaging Het
Gon4l C T 3: 88,895,336 P1085S possibly damaging Het
Gsdma2 T C 11: 98,650,974 F176L probably damaging Het
Haghl A G 17: 25,784,265 F131S probably damaging Het
Hmcn1 G A 1: 150,615,298 P4167S probably damaging Het
Hscb T C 5: 110,830,954 N199D probably benign Het
Lmbr1l T A 15: 98,904,785 N428Y probably damaging Het
Mc2r T A 18: 68,407,434 M263L probably benign Het
Metap1 T A 3: 138,462,389 T325S probably damaging Het
Mff A G 1: 82,741,975 R225G probably damaging Het
Naprt A T 15: 75,891,372 L474Q probably damaging Het
Nin A T 12: 70,062,699 Y155* probably null Het
Nrg3 A T 14: 38,370,767 C612* probably null Het
Olfr170 T C 16: 19,606,550 I39M possibly damaging Het
Olfr472 A T 7: 107,903,290 D191V possibly damaging Het
Olfr781 T A 10: 129,333,127 I82K probably damaging Het
Pdilt A T 7: 119,500,444 F200L probably damaging Het
Ppard T G 17: 28,298,903 F315C probably damaging Het
Ror1 T A 4: 100,441,184 S585T probably damaging Het
Tenm2 T C 11: 36,207,095 K442R probably benign Het
Tln2 A G 9: 67,356,698 I553T probably damaging Het
Tmem269 T A 4: 119,214,141 I26F probably benign Het
Tsen2 T C 6: 115,559,607 V108A probably benign Het
Ttyh3 A T 5: 140,629,483 D383E probably damaging Het
Usp13 T C 3: 32,847,825 S102P probably damaging Het
Vmn2r118 T G 17: 55,592,619 S762R probably damaging Het
Washc4 A G 10: 83,579,543 N799S possibly damaging Het
Zcchc6 A G 13: 59,782,096 S1042P possibly damaging Het
Zdhhc17 C T 10: 110,967,689 V256I probably benign Het
Zfp51 T A 17: 21,463,959 F279I probably damaging Het
Zzz3 A G 3: 152,451,369 T223A probably damaging Het
Other mutations in Spdye4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0135:Spdye4a UTSW 5 143225102 splice site probably null
R4387:Spdye4a UTSW 5 143225623 missense probably benign 0.08
R6123:Spdye4a UTSW 5 143225718 missense possibly damaging 0.71
R6407:Spdye4a UTSW 5 143225699 missense probably benign
R8343:Spdye4a UTSW 5 143225807 start codon destroyed probably benign 0.09
R8696:Spdye4a UTSW 5 143224999 missense probably benign 0.00
R8888:Spdye4a UTSW 5 143225663 missense probably benign 0.00
Posted On2014-05-07