Incidental Mutation 'IGL02106:Spdye4c'
ID 279997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spdye4c
Ensembl Gene ENSMUSG00000074812
Gene Name speedy/RINGO cell cycle regulator family, member E4C
Synonyms Gm355, LOC241634
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02106
Quality Score
Status
Chromosome 2
Chromosomal Location 128433129-128440384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128434586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 54 (K54N)
Ref Sequence ENSEMBL: ENSMUSP00000135991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144559] [ENSMUST00000155430] [ENSMUST00000178601]
AlphaFold I6XKQ3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120483
Predicted Effect possibly damaging
Transcript: ENSMUST00000144559
AA Change: K54N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140478
Gene: ENSMUSG00000074812
AA Change: K54N

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: K54N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117916
Gene: ENSMUSG00000074812
AA Change: K54N

DomainStartEndE-ValueType
low complexity region 87 99 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178601
AA Change: K54N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135991
Gene: ENSMUSG00000074812
AA Change: K54N

DomainStartEndE-ValueType
Pfam:Spy1 37 168 1.3e-54 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l A G 9: 44,420,496 (GRCm39) N1264D probably benign Het
Bmyc A G 2: 25,597,082 (GRCm39) K49E probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Ceacam2 A G 7: 25,230,166 (GRCm39) S147P probably benign Het
Cep152 G T 2: 125,444,856 (GRCm39) probably null Het
Cnbd1 G T 4: 18,894,993 (GRCm39) P250T possibly damaging Het
Col6a4 A G 9: 105,940,304 (GRCm39) C1209R possibly damaging Het
Coro1c T C 5: 113,990,334 (GRCm39) T116A probably benign Het
Ddx46 A G 13: 55,825,416 (GRCm39) probably benign Het
Dnaaf5 T C 5: 139,137,268 (GRCm39) I207T probably damaging Het
Erap1 A G 13: 74,794,758 (GRCm39) D139G probably benign Het
Fbxw22 A T 9: 109,231,087 (GRCm39) I121N possibly damaging Het
Fcmr T C 1: 130,802,872 (GRCm39) S162P probably benign Het
Gadl1 A G 9: 115,766,225 (GRCm39) probably benign Het
Gli2 T A 1: 118,764,465 (GRCm39) S1229C probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gne T C 4: 44,037,306 (GRCm39) N692D probably damaging Het
Knl1 A G 2: 118,902,489 (GRCm39) T1397A possibly damaging Het
Lama3 C A 18: 12,601,371 (GRCm39) A1016E probably damaging Het
Lhfpl2 A G 13: 94,328,419 (GRCm39) D160G probably benign Het
Lmtk2 T A 5: 144,112,769 (GRCm39) V1163E probably benign Het
Lrrtm2 G T 18: 35,345,868 (GRCm39) S478* probably null Het
Nfatc2ip T C 7: 125,989,736 (GRCm39) probably null Het
Nlrp12 A G 7: 3,282,574 (GRCm39) I775T probably benign Het
Npr1 A G 3: 90,372,165 (GRCm39) F216L probably benign Het
Or4m1 A T 14: 50,557,617 (GRCm39) L225H probably damaging Het
Or5ac24 T A 16: 59,165,387 (GRCm39) N226Y probably benign Het
Or5b99 G T 19: 12,976,929 (GRCm39) S193I possibly damaging Het
Pkd1l1 C A 11: 8,783,800 (GRCm39) G2052C probably damaging Het
Ppp1r16b A G 2: 158,588,451 (GRCm39) N112S possibly damaging Het
Prr11 A G 11: 86,994,141 (GRCm39) probably benign Het
Scap A G 9: 110,210,724 (GRCm39) probably benign Het
Sirt1 C T 10: 63,171,608 (GRCm39) R191Q probably damaging Het
Slc38a6 A C 12: 73,397,320 (GRCm39) S321R possibly damaging Het
Sp140 T C 1: 85,570,940 (GRCm39) V460A probably benign Het
Spta1 T A 1: 174,030,860 (GRCm39) N947K probably benign Het
Srgap1 A G 10: 121,621,598 (GRCm39) V965A possibly damaging Het
Tmem209 A C 6: 30,508,659 (GRCm39) probably null Het
Trim37 A T 11: 87,092,230 (GRCm39) K123* probably null Het
Trio T C 15: 27,744,244 (GRCm39) T2563A possibly damaging Het
Utrn A T 10: 12,289,717 (GRCm39) S734T possibly damaging Het
Vars2 A G 17: 35,975,513 (GRCm39) probably benign Het
Xrn1 G A 9: 95,859,858 (GRCm39) E417K probably benign Het
Yeats2 T A 16: 20,011,970 (GRCm39) V515E possibly damaging Het
Other mutations in Spdye4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5287:Spdye4c UTSW 2 128,434,560 (GRCm39) missense possibly damaging 0.83
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
Posted On 2015-04-16