Incidental Mutation 'R5287:Spdye4c'
ID 424392
Institutional Source Beutler Lab
Gene Symbol Spdye4c
Ensembl Gene ENSMUSG00000074812
Gene Name speedy/RINGO cell cycle regulator family, member E4C
Synonyms Gm355, LOC241634
MMRRC Submission 042871-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5287 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 128433129-128440384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128434560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 46 (S46P)
Ref Sequence ENSEMBL: ENSMUSP00000117916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144559] [ENSMUST00000155430] [ENSMUST00000178601]
AlphaFold I6XKQ3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120483
Predicted Effect probably benign
Transcript: ENSMUST00000144559
AA Change: S46P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140478
Gene: ENSMUSG00000074812
AA Change: S46P

DomainStartEndE-ValueType
low complexity region 87 99 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
Pfam:Spy1 204 335 1.1e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155430
AA Change: S46P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117916
Gene: ENSMUSG00000074812
AA Change: S46P

DomainStartEndE-ValueType
low complexity region 87 99 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178601
AA Change: S46P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000135991
Gene: ENSMUSG00000074812
AA Change: S46P

DomainStartEndE-ValueType
Pfam:Spy1 37 168 1.3e-54 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T C 2: 93,666,298 (GRCm39) D463G probably damaging Het
Acsbg3 G T 17: 57,183,221 (GRCm39) probably benign Het
Adcy8 C T 15: 64,588,001 (GRCm39) V929I probably benign Het
Anp32a A T 9: 62,249,275 (GRCm39) I16F possibly damaging Het
Arpin T C 7: 79,577,997 (GRCm39) E144G probably damaging Het
Asb18 T C 1: 89,942,110 (GRCm39) T64A probably benign Het
Asxl2 A G 12: 3,546,893 (GRCm39) N559S probably benign Het
Brd7 G T 8: 89,084,169 (GRCm39) Q148K probably damaging Het
Brinp1 A G 4: 68,711,201 (GRCm39) W336R probably benign Het
Btnl9 A G 11: 49,060,434 (GRCm39) V438A probably benign Het
Cat T C 2: 103,304,705 (GRCm39) T107A probably damaging Het
Catsperg2 T C 7: 29,397,263 (GRCm39) Y1080C possibly damaging Het
Ccdc138 T A 10: 58,411,527 (GRCm39) F632I possibly damaging Het
Cd46 C T 1: 194,744,719 (GRCm39) V340I possibly damaging Het
Celf1 T C 2: 90,839,552 (GRCm39) S326P possibly damaging Het
Ces1e T G 8: 93,935,240 (GRCm39) D404A probably benign Het
Chd3 A T 11: 69,239,895 (GRCm39) probably null Het
Clhc1 A G 11: 29,528,244 (GRCm39) probably benign Het
Cops8 C T 1: 90,534,342 (GRCm39) probably benign Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Csmd2 C T 4: 128,380,677 (GRCm39) R2078C probably benign Het
Dnm1l A C 16: 16,151,732 (GRCm39) V240G probably damaging Het
Fezf1 C T 6: 23,248,010 (GRCm39) V22M probably benign Het
Gm6818 T G 7: 38,099,911 (GRCm39) noncoding transcript Het
Hand2 C T 8: 57,775,080 (GRCm39) L47F probably damaging Het
Insyn2b A T 11: 34,353,058 (GRCm39) T367S probably benign Het
Itga7 C A 10: 128,779,027 (GRCm39) R351S probably benign Het
Mmp8 G T 9: 7,567,507 (GRCm39) A456S probably benign Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Opn4 T C 14: 34,314,894 (GRCm39) T460A probably benign Het
Or6b2 A T 1: 92,408,019 (GRCm39) V108E possibly damaging Het
Otog T C 7: 45,918,753 (GRCm39) F943S probably damaging Het
Pcnx1 A T 12: 82,028,825 (GRCm39) Y1668F probably damaging Het
Pheta1 A G 5: 121,990,794 (GRCm39) E52G possibly damaging Het
Phf24 A T 4: 42,933,831 (GRCm39) probably null Het
Phkg2 GCTGCCGGACGAGTGGCCT GCT 7: 127,181,929 (GRCm39) probably null Het
Ppargc1a G A 5: 51,620,167 (GRCm39) probably benign Het
Ptprd G A 4: 75,872,405 (GRCm39) R1355* probably null Het
Ptprn2 A T 12: 117,175,482 (GRCm39) M721L probably damaging Het
Sec23ip A G 7: 128,367,860 (GRCm39) E624G probably benign Het
Sfmbt1 G A 14: 30,538,777 (GRCm39) V799M probably damaging Het
Snrnp200 T C 2: 127,073,607 (GRCm39) V1335A probably benign Het
Sp140 G A 1: 85,538,545 (GRCm39) probably null Het
Syde1 T C 10: 78,425,871 (GRCm39) R99G probably benign Het
T2 A T 17: 8,636,835 (GRCm39) M57L probably benign Het
Tasor2 G A 13: 3,625,744 (GRCm39) S1402L probably benign Het
Tfap2e T C 4: 126,628,439 (GRCm39) I172M probably benign Het
Tk1 A T 11: 117,707,367 (GRCm39) V140E probably damaging Het
Tln2 G A 9: 67,149,641 (GRCm39) T1192M probably damaging Het
Tmed8 C A 12: 87,220,957 (GRCm39) A210S probably damaging Het
Tnip2 A G 5: 34,671,108 (GRCm39) L45P probably damaging Het
Ttc3 T C 16: 94,260,703 (GRCm39) V1396A probably benign Het
Ttn G T 2: 76,562,436 (GRCm39) S28803Y probably damaging Het
Wdr90 A T 17: 26,080,441 (GRCm39) probably benign Het
Zfp7 G A 15: 76,775,422 (GRCm39) R488Q probably damaging Het
Other mutations in Spdye4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02106:Spdye4c APN 2 128,434,586 (GRCm39) missense possibly damaging 0.89
R0616:Spdye4c UTSW 2 128,436,132 (GRCm39) missense possibly damaging 0.94
R1072:Spdye4c UTSW 2 128,438,557 (GRCm39) missense probably benign 0.02
R1455:Spdye4c UTSW 2 128,438,478 (GRCm39) missense probably damaging 1.00
R1545:Spdye4c UTSW 2 128,437,632 (GRCm39) missense probably benign 0.03
R1682:Spdye4c UTSW 2 128,434,542 (GRCm39) missense probably damaging 0.96
R4668:Spdye4c UTSW 2 128,434,273 (GRCm39) missense possibly damaging 0.46
R4669:Spdye4c UTSW 2 128,434,273 (GRCm39) missense possibly damaging 0.46
R5445:Spdye4c UTSW 2 128,438,484 (GRCm39) nonsense probably null
R5613:Spdye4c UTSW 2 128,434,889 (GRCm39) missense possibly damaging 0.72
R5629:Spdye4c UTSW 2 128,438,705 (GRCm39) missense probably damaging 1.00
R5786:Spdye4c UTSW 2 128,438,761 (GRCm39) makesense probably null
R5911:Spdye4c UTSW 2 128,437,994 (GRCm39) nonsense probably null
R5912:Spdye4c UTSW 2 128,437,994 (GRCm39) nonsense probably null
R6008:Spdye4c UTSW 2 128,438,553 (GRCm39) missense probably benign 0.00
R6817:Spdye4c UTSW 2 128,438,430 (GRCm39) missense probably damaging 1.00
R6856:Spdye4c UTSW 2 128,438,050 (GRCm39) splice site probably null
R7402:Spdye4c UTSW 2 128,434,261 (GRCm39) start codon destroyed probably benign 0.08
R7677:Spdye4c UTSW 2 128,436,056 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCTGTGAAAGCAACGATAG -3'
(R):5'- CCTTCTCAAGCCTAGTGAGG -3'

Sequencing Primer
(F):5'- TGTGTCACCCTTGGCGC -3'
(R):5'- GTGAGGAATTTACATGTAACACCTG -3'
Posted On 2016-08-04