Incidental Mutation 'IGL02002:Spdye4a'
ID 183076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spdye4a
Ensembl Gene ENSMUSG00000039296
Gene Name speedy/RINGO cell cycle regulator family, member E4A
Synonyms 4930445A17Rik, 4930451F05Rik, speedy B, Spdyb, speedy/ringo
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02002
Quality Score
Status
Chromosome 5
Chromosomal Location 143202071-143212645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143211460 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q5IBH6
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
Abcg5 G T 17: 84,989,479 (GRCm39) Y76* probably null Het
Acadsb T A 7: 131,030,258 (GRCm39) V135E probably damaging Het
Acap1 A G 11: 69,775,286 (GRCm39) Y326H probably damaging Het
Actl11 T A 9: 107,806,529 (GRCm39) V284D probably benign Het
Adcy10 G T 1: 165,349,412 (GRCm39) D428Y probably damaging Het
Akap8 A G 17: 32,528,470 (GRCm39) C481R probably damaging Het
Amotl2 G A 9: 102,602,316 (GRCm39) A26T probably damaging Het
Apob T C 12: 8,044,822 (GRCm39) V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 (GRCm39) N148K probably damaging Het
Ccdc149 G A 5: 52,563,421 (GRCm39) T124M probably damaging Het
Cd320 A G 17: 34,062,214 (GRCm39) probably benign Het
Clca4b T C 3: 144,638,194 (GRCm39) T23A probably benign Het
Col22a1 A G 15: 71,682,946 (GRCm39) probably benign Het
Col24a1 T A 3: 145,062,699 (GRCm39) F675I possibly damaging Het
Col6a3 A G 1: 90,709,858 (GRCm39) probably benign Het
Dap3 A T 3: 88,843,535 (GRCm39) M19K probably benign Het
Dsg2 A G 18: 20,712,233 (GRCm39) D123G probably damaging Het
Dysf T A 6: 84,187,769 (GRCm39) probably benign Het
Erbb4 A G 1: 68,119,885 (GRCm39) S853P probably damaging Het
Fbn2 A G 18: 58,247,625 (GRCm39) M423T probably benign Het
Fcgbpl1 A T 7: 27,852,221 (GRCm39) Y1248F probably damaging Het
Fgfr1 T C 8: 26,045,727 (GRCm39) Y112H probably damaging Het
Gbp7 G A 3: 142,244,661 (GRCm39) A203T probably damaging Het
Gon4l C T 3: 88,802,643 (GRCm39) P1085S possibly damaging Het
Gsdma2 T C 11: 98,541,800 (GRCm39) F176L probably damaging Het
Haghl A G 17: 26,003,239 (GRCm39) F131S probably damaging Het
Hmcn1 G A 1: 150,491,049 (GRCm39) P4167S probably damaging Het
Hscb T C 5: 110,978,820 (GRCm39) N199D probably benign Het
Lmbr1l T A 15: 98,802,666 (GRCm39) N428Y probably damaging Het
Mc2r T A 18: 68,540,505 (GRCm39) M263L probably benign Het
Metap1 T A 3: 138,168,150 (GRCm39) T325S probably damaging Het
Mff A G 1: 82,719,696 (GRCm39) R225G probably damaging Het
Naprt A T 15: 75,763,221 (GRCm39) L474Q probably damaging Het
Nin A T 12: 70,109,473 (GRCm39) Y155* probably null Het
Nrg3 A T 14: 38,092,724 (GRCm39) C612* probably null Het
Or2aj5 T C 16: 19,425,300 (GRCm39) I39M possibly damaging Het
Or5p52 A T 7: 107,502,497 (GRCm39) D191V possibly damaging Het
Or6c35 T A 10: 129,168,996 (GRCm39) I82K probably damaging Het
Pdilt A T 7: 119,099,667 (GRCm39) F200L probably damaging Het
Ppard T G 17: 28,517,877 (GRCm39) F315C probably damaging Het
Ror1 T A 4: 100,298,381 (GRCm39) S585T probably damaging Het
Tenm2 T C 11: 36,097,922 (GRCm39) K442R probably benign Het
Tln2 A G 9: 67,263,980 (GRCm39) I553T probably damaging Het
Tmem269 T A 4: 119,071,338 (GRCm39) I26F probably benign Het
Tsen2 T C 6: 115,536,568 (GRCm39) V108A probably benign Het
Ttyh3 A T 5: 140,615,238 (GRCm39) D383E probably damaging Het
Tut7 A G 13: 59,929,910 (GRCm39) S1042P possibly damaging Het
Usp13 T C 3: 32,901,974 (GRCm39) S102P probably damaging Het
Vmn2r118 T G 17: 55,899,619 (GRCm39) S762R probably damaging Het
Washc4 A G 10: 83,415,407 (GRCm39) N799S possibly damaging Het
Zdhhc17 C T 10: 110,803,550 (GRCm39) V256I probably benign Het
Zfp51 T A 17: 21,684,221 (GRCm39) F279I probably damaging Het
Zzz3 A G 3: 152,157,006 (GRCm39) T223A probably damaging Het
Other mutations in Spdye4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0135:Spdye4a UTSW 5 143,210,857 (GRCm39) splice site probably null
R4387:Spdye4a UTSW 5 143,211,378 (GRCm39) missense probably benign 0.08
R6123:Spdye4a UTSW 5 143,211,473 (GRCm39) missense possibly damaging 0.71
R6407:Spdye4a UTSW 5 143,211,454 (GRCm39) missense probably benign
R8343:Spdye4a UTSW 5 143,211,562 (GRCm39) start codon destroyed probably benign 0.09
R8696:Spdye4a UTSW 5 143,210,754 (GRCm39) missense probably benign 0.00
R8888:Spdye4a UTSW 5 143,211,418 (GRCm39) missense probably benign 0.00
R9353:Spdye4a UTSW 5 143,204,793 (GRCm39) missense probably benign 0.21
R9648:Spdye4a UTSW 5 143,210,848 (GRCm39) missense probably benign 0.13
Posted On 2014-05-07