Incidental Mutation 'R5786:Spdye4c'
ID 501543
Institutional Source Beutler Lab
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: 0.053) question?
Stock # R5786 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 128433129-128440384 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 128438761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 340 (*340K)
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: *340K
SMART Domains Protein: ENSMUSP00000140478
Gene: ENSMUSG00000074812
AA Change: *340K

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: *340K
SMART Domains Protein: ENSMUSP00000135991
Gene: ENSMUSG00000074812
AA Change: *340K

DomainStartEndE-ValueType
Pfam:Spy1 37 168 1.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209672
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,945,122 (GRCm39) D200E probably damaging Het
4930578I06Rik C A 14: 64,210,691 (GRCm39) R179L probably damaging Het
Abhd5 A G 9: 122,192,868 (GRCm39) probably null Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Apob C T 12: 8,065,304 (GRCm39) T4091I possibly damaging Het
Avil G A 10: 126,852,368 (GRCm39) probably null Het
Cacna1a T C 8: 85,142,350 (GRCm39) probably benign Het
Capn7 T C 14: 31,082,102 (GRCm39) L436P probably damaging Het
Ccdc33 A G 9: 57,937,235 (GRCm39) S655P possibly damaging Het
Ccr6 T C 17: 8,475,244 (GRCm39) S150P probably damaging Het
Cd1d1 T C 3: 86,906,095 (GRCm39) N60S probably benign Het
Ckap5 A G 2: 91,446,641 (GRCm39) probably null Het
Col15a1 A G 4: 47,280,865 (GRCm39) E753G possibly damaging Het
Col1a2 C T 6: 4,530,223 (GRCm39) R699W unknown Het
Cracd T C 5: 77,014,043 (GRCm39) probably null Het
Csf2rb T C 15: 78,233,155 (GRCm39) Y821H probably damaging Het
Cyp3a11 A G 5: 145,799,284 (GRCm39) I301T possibly damaging Het
Dpp3 C T 19: 4,968,350 (GRCm39) G241R possibly damaging Het
Dpyd G T 3: 119,220,886 (GRCm39) M952I probably damaging Het
Dsg3 A T 18: 20,654,628 (GRCm39) I111L possibly damaging Het
Ect2 A G 3: 27,201,102 (GRCm39) F123L probably damaging Het
Ehmt2 G C 17: 35,129,719 (GRCm39) D961H probably damaging Het
Esp1 A G 17: 41,041,809 (GRCm39) I34V probably benign Het
Fam171b G A 2: 83,708,580 (GRCm39) V361I probably benign Het
Flnc T A 6: 29,459,536 (GRCm39) Y2545* probably null Het
Fmo4 C T 1: 162,631,286 (GRCm39) G227D probably benign Het
Grn C T 11: 102,324,869 (GRCm39) Q153* probably null Het
H2-DMb1 T G 17: 34,372,408 (GRCm39) S12R possibly damaging Het
Ica1 G T 6: 8,672,391 (GRCm39) N203K possibly damaging Het
Kdm4c C A 4: 74,277,722 (GRCm39) T792K probably damaging Het
Kif19a T A 11: 114,670,049 (GRCm39) Y81* probably null Het
Kifc2 G T 15: 76,548,578 (GRCm39) C440F probably damaging Het
Lpin2 A G 17: 71,537,268 (GRCm39) T234A probably benign Het
Lysmd2 C A 9: 75,542,885 (GRCm39) P164Q probably benign Het
Maea T A 5: 33,526,027 (GRCm39) D234E probably benign Het
Map4k1 T A 7: 28,699,445 (GRCm39) V572E probably damaging Het
Med6 C T 12: 81,620,733 (GRCm39) G166R probably null Het
Mtmr10 T C 7: 63,987,458 (GRCm39) I666T probably damaging Het
Myh14 T A 7: 44,262,887 (GRCm39) K1777M probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Obscn A G 11: 58,923,517 (GRCm39) S6461P probably damaging Het
Or1j4 T C 2: 36,740,061 (GRCm39) M1T probably null Het
Osbpl7 T A 11: 96,956,658 (GRCm39) V567E probably damaging Het
Rad51ap2 A T 12: 11,506,921 (GRCm39) D281V probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl24 C A 16: 55,787,516 (GRCm39) H59N possibly damaging Het
Rtl1 G A 12: 109,559,053 (GRCm39) L929F possibly damaging Het
Runx3 C T 4: 134,890,575 (GRCm39) T159I probably damaging Het
Serpine2 T C 1: 79,794,637 (GRCm39) I99V probably benign Het
Slc12a6 C A 2: 112,115,067 (GRCm39) P12Q probably benign Het
Slc25a18 T C 6: 120,769,035 (GRCm39) L184P probably damaging Het
Smg1 T C 7: 117,812,120 (GRCm39) D57G probably benign Het
Srsf5 G A 12: 80,996,311 (GRCm39) E162K possibly damaging Het
Ssc5d T C 7: 4,939,817 (GRCm39) V751A probably benign Het
Tcf3 T C 10: 80,255,333 (GRCm39) N157S probably benign Het
Tdrd7 T C 4: 45,989,082 (GRCm39) V71A probably benign Het
Tex14 T C 11: 87,405,121 (GRCm39) C678R probably damaging Het
Tgm3 A T 2: 129,868,704 (GRCm39) K214* probably null Het
Vps53 A G 11: 75,953,833 (GRCm39) I659T probably benign Het
Zfp597 A T 16: 3,684,023 (GRCm39) C244* probably null Het
Zfp933 T A 4: 147,912,864 (GRCm39) probably null 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
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
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'- CAGATCAGTGTGCAGAGGTCTG -3'
(R):5'- TCTGTGACACAATCTGGCTG -3'

Sequencing Primer
(F):5'- AGAGGTCTGCCAGGGTTC -3'
(R):5'- TCTGGCTGGAGAATTAAGGTATAC -3'
Posted On 2017-12-01