Incidental Mutation 'R5445:Spdye4c'
ID 427381
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 043010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5445 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 128433129-128440384 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 128438484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 281 (Q281*)
Ref Sequence ENSEMBL: ENSMUSP00000135991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144559] [ENSMUST00000155430] [ENSMUST00000178601]
AlphaFold I6XKQ3
Predicted Effect probably null
Transcript: ENSMUST00000144559
AA Change: Q281*
SMART Domains Protein: ENSMUSP00000140478
Gene: ENSMUSG00000074812
AA Change: Q281*

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 probably benign
Transcript: ENSMUST00000155430
SMART Domains Protein: ENSMUSP00000117916
Gene: ENSMUSG00000074812

DomainStartEndE-ValueType
low complexity region 87 99 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000178601
AA Change: Q281*
SMART Domains Protein: ENSMUSP00000135991
Gene: ENSMUSG00000074812
AA Change: Q281*

DomainStartEndE-ValueType
Pfam:Spy1 37 168 1.3e-54 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,978,557 (GRCm39) D300E probably damaging Het
Apbb1ip T C 2: 22,725,960 (GRCm39) V244A possibly damaging Het
Arhgap32 T C 9: 32,159,678 (GRCm39) S232P probably benign Het
Atf7ip G A 6: 136,564,255 (GRCm39) V833M probably damaging Het
Casp7 A G 19: 56,421,770 (GRCm39) probably null Het
Ccdc9b T C 2: 118,590,067 (GRCm39) D259G probably damaging Het
Celsr2 T A 3: 108,299,974 (GRCm39) E2911D probably benign Het
Cep350 T C 1: 155,770,469 (GRCm39) D1807G probably benign Het
Cfap251 C T 5: 123,425,240 (GRCm39) T294M probably damaging Het
Chrd A G 16: 20,557,660 (GRCm39) T753A possibly damaging Het
Clasp2 A G 9: 113,733,014 (GRCm39) D971G probably damaging Het
Cnnm2 A G 19: 46,865,727 (GRCm39) T772A possibly damaging Het
Cntn1 A T 15: 92,192,958 (GRCm39) N687Y probably damaging Het
Col6a3 G A 1: 90,709,761 (GRCm39) R1812* probably null Het
Dsc2 T C 18: 20,168,360 (GRCm39) I700V possibly damaging Het
Flt3 G A 5: 147,291,905 (GRCm39) Q540* probably null Het
Fmo4 T A 1: 162,632,842 (GRCm39) I170F probably benign Het
Fra10ac1 T A 19: 38,207,910 (GRCm39) D72V possibly damaging Het
Garin2 G A 12: 78,761,890 (GRCm39) E185K probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm2381 T G 7: 42,469,425 (GRCm39) H233P probably damaging Het
Gm5148 T A 3: 37,768,995 (GRCm39) Q75L probably damaging Het
Gm8369 T C 19: 11,482,170 (GRCm39) V27A possibly damaging Het
Gpr157 T C 4: 150,186,825 (GRCm39) S318P probably benign Het
Hectd4 G A 5: 121,404,337 (GRCm39) V405M probably benign Het
Hemgn T C 4: 46,400,738 (GRCm39) R41G probably benign Het
Hhipl1 T A 12: 108,294,467 (GRCm39) L791Q probably damaging Het
Hjurp T G 1: 88,194,038 (GRCm39) K290T probably benign Het
Ifi207 T C 1: 173,555,363 (GRCm39) E773G probably damaging Het
Kcnh6 T C 11: 105,914,685 (GRCm39) Y697H probably damaging Het
Lonrf2 T C 1: 38,846,234 (GRCm39) T313A probably benign Het
Lrba G T 3: 86,275,902 (GRCm39) V1757L probably benign Het
Lrrc24 T C 15: 76,600,306 (GRCm39) T278A probably benign Het
Ltbp2 T C 12: 84,856,428 (GRCm39) I679V probably null Het
Mapk4 G T 18: 74,064,073 (GRCm39) T383K probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mia3 A G 1: 183,117,471 (GRCm39) V208A probably benign Het
Myo15a C A 11: 60,411,603 (GRCm39) C3234* probably null Het
Nlrp1b G T 11: 71,108,701 (GRCm39) Q267K probably benign Het
Nphp3 A G 9: 103,881,922 (GRCm39) K37E probably damaging Het
Nwd2 T C 5: 63,962,681 (GRCm39) M755T probably damaging Het
Or10u4 T A 10: 129,802,158 (GRCm39) H137L probably benign Het
Or52ac1 A G 7: 104,246,028 (GRCm39) F120S probably damaging Het
Or5p58 A G 7: 107,693,949 (GRCm39) V276A possibly damaging Het
Pdlim5 C T 3: 142,058,495 (GRCm39) R83K probably null Het
Plekha5 A T 6: 140,498,459 (GRCm39) R173* probably null Het
Pramel25 T A 4: 143,521,707 (GRCm39) V441E possibly damaging Het
Rbms3 T A 9: 117,080,853 (GRCm39) D6V possibly damaging Het
Rhoq A T 17: 87,271,755 (GRCm39) Y57F probably benign Het
Rrm1 A T 7: 102,100,230 (GRCm39) T204S possibly damaging Het
Slf1 A T 13: 77,239,323 (GRCm39) I447N probably benign Het
Smarcc2 T A 10: 128,323,943 (GRCm39) probably benign Het
Tert T A 13: 73,792,403 (GRCm39) M890K probably benign Het
Tln1 C A 4: 43,543,905 (GRCm39) R1198L probably benign Het
Tmco4 A G 4: 138,748,178 (GRCm39) M253V probably damaging Het
Usp19 G T 9: 108,375,119 (GRCm39) V782F possibly damaging Het
Usp33 T A 3: 152,080,260 (GRCm39) S464T probably damaging Het
Usp47 A T 7: 111,673,928 (GRCm39) Y397F probably damaging Het
Vmn1r12 A G 6: 57,136,466 (GRCm39) T144A probably benign Het
Vmn2r90 A T 17: 17,954,386 (GRCm39) H850L probably benign Het
Zfhx3 A T 8: 109,682,842 (GRCm39) Q3427L unknown Het
Zfp236 G T 18: 82,700,281 (GRCm39) Q63K probably benign Het
Zfp7 T A 15: 76,775,054 (GRCm39) C365* probably null Het
Zfp786 T C 6: 47,796,619 (GRCm39) E773G 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
R5287:Spdye4c UTSW 2 128,434,560 (GRCm39) missense possibly damaging 0.83
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'- AAGTAAATGGGCTCTGTGTCC -3'
(R):5'- GAACCCATCCATGGTCTTCC -3'

Sequencing Primer
(F):5'- TCTGTGTCCAGGATGCCC -3'
(R):5'- ATGGTCTTCCCTGGGCAG -3'
Posted On 2016-09-01