Incidental Mutation 'R7986:Cby3'
ID 651492
Institutional Source Beutler Lab
Gene Symbol Cby3
Ensembl Gene ENSMUSG00000050087
Gene Name chibby family member 3
Synonyms 1700121K02Rik
MMRRC Submission 046027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 50248588-50250529 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50250106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 9 (H9R)
Ref Sequence ENSEMBL: ENSMUSP00000052281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052596] [ENSMUST00000164067]
AlphaFold Q9CVN6
Predicted Effect possibly damaging
Transcript: ENSMUST00000052596
AA Change: H9R

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052281
Gene: ENSMUSG00000050087
AA Change: H9R

DomainStartEndE-ValueType
Pfam:Chibby 1 105 5.4e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164067
AA Change: H104R

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131004
Gene: ENSMUSG00000050087
AA Change: H104R

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Pfam:Chibby 76 199 1.1e-38 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 G T 16: 85,596,435 (GRCm39) A401D probably damaging Het
Akap10 C T 11: 61,820,890 (GRCm39) G5R probably damaging Het
Arhgap21 A C 2: 20,867,967 (GRCm39) L1023W probably damaging Het
Bpifb4 A G 2: 153,799,650 (GRCm39) N339S probably benign Het
Btbd17 A G 11: 114,683,341 (GRCm39) Y124H probably damaging Het
Cacna1a C G 8: 85,365,408 (GRCm39) R2184G probably benign Het
Cavin1 A G 11: 100,861,102 (GRCm39) I64T probably damaging Het
Ccdc141 A G 2: 76,845,461 (GRCm39) L1202P probably benign Het
Cd109 A G 9: 78,596,048 (GRCm39) I794V possibly damaging Het
Col12a1 C T 9: 79,511,674 (GRCm39) probably null Het
Col6a2 A G 10: 76,450,972 (GRCm39) L23P probably benign Het
Csf1r A G 18: 61,247,904 (GRCm39) H324R probably benign Het
D430041D05Rik A G 2: 104,087,096 (GRCm39) S627P probably damaging Het
Dffb G A 4: 154,054,504 (GRCm39) S195F probably damaging Het
Fstl5 T A 3: 76,337,097 (GRCm39) Y219N probably damaging Het
Gm29106 A T 1: 118,128,000 (GRCm39) H564L possibly damaging Het
Gpt2 T A 8: 86,235,839 (GRCm39) C158* probably null Het
Grin1 G T 2: 25,185,841 (GRCm39) A872D probably damaging Het
Hoxa1 T C 6: 52,135,018 (GRCm39) S62G probably benign Het
Krt28 T C 11: 99,257,651 (GRCm39) N397D probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Llgl1 G T 11: 60,602,221 (GRCm39) A755S probably benign Het
Lmod2 A G 6: 24,603,448 (GRCm39) E141G possibly damaging Het
Loxhd1 A T 18: 77,462,890 (GRCm39) T910S possibly damaging Het
Masp2 A G 4: 148,687,283 (GRCm39) Y55C probably damaging Het
Nek10 A C 14: 15,001,020 (GRCm38) S1067R probably benign Het
Nemp2 C T 1: 52,669,981 (GRCm39) A22V probably benign Het
Npy2r T A 3: 82,448,803 (GRCm39) probably null Het
Nr1h4 A T 10: 89,290,634 (GRCm39) S469T possibly damaging Het
Nr4a3 T C 4: 48,055,954 (GRCm39) Y327H probably damaging Het
Or10ag52 A G 2: 87,043,922 (GRCm39) I229V probably benign Het
Or5an1b C T 19: 12,300,102 (GRCm39) V30I probably benign Het
Pramel26 A T 4: 143,538,590 (GRCm39) L127* probably null Het
Prss1l T C 6: 41,373,058 (GRCm39) I110T probably damaging Het
Ptpdc1 G A 13: 48,746,046 (GRCm39) A118V probably damaging Het
Raph1 T C 1: 60,535,445 (GRCm39) Y73C Het
Rtl1 A G 12: 109,558,492 (GRCm39) S1116P possibly damaging Het
Secisbp2 T C 13: 51,819,395 (GRCm39) I325T probably damaging Het
Setd5 T C 6: 113,105,418 (GRCm39) S817P probably benign Het
Sirt6 A G 10: 81,458,344 (GRCm39) L303P probably benign Het
Slc46a2 G T 4: 59,911,858 (GRCm39) F451L probably benign Het
Sorbs1 T A 19: 40,353,449 (GRCm39) I219F probably damaging Het
Tmem178 A G 17: 81,308,273 (GRCm39) I223V possibly damaging Het
Trps1 T G 15: 50,525,132 (GRCm39) T933P probably damaging Het
Trps1 A G 15: 50,753,019 (GRCm39) F16S probably benign Het
Virma T A 4: 11,540,023 (GRCm39) S1447R probably benign Het
Vmn1r230 T C 17: 21,067,119 (GRCm39) Y103H probably damaging Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Ybx3 T A 6: 131,356,362 (GRCm39) R170* probably null Het
Zfp423 T C 8: 88,506,978 (GRCm39) D1122G probably benign Het
Other mutations in Cby3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Cby3 APN 11 50,248,638 (GRCm39) splice site probably benign
IGL03071:Cby3 APN 11 50,250,343 (GRCm39) missense probably damaging 1.00
R1550:Cby3 UTSW 11 50,250,313 (GRCm39) missense probably damaging 1.00
R1642:Cby3 UTSW 11 50,250,343 (GRCm39) missense probably damaging 1.00
R3747:Cby3 UTSW 11 50,250,501 (GRCm39) makesense probably null
R6378:Cby3 UTSW 11 50,250,360 (GRCm39) missense probably damaging 0.99
R7800:Cby3 UTSW 11 50,250,175 (GRCm39) missense probably damaging 1.00
R8431:Cby3 UTSW 11 50,250,084 (GRCm39) missense probably damaging 1.00
R8545:Cby3 UTSW 11 50,250,243 (GRCm39) missense probably benign
R9050:Cby3 UTSW 11 50,248,617 (GRCm39) missense possibly damaging 0.91
R9134:Cby3 UTSW 11 50,250,153 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACCATTCCAGAACATCAGGG -3'
(R):5'- TCTTAATCGGCTGCACTTGTG -3'

Sequencing Primer
(F):5'- TTCCAGAACATCAGGGTTCCAG -3'
(R):5'- CTGCACTTGTGGCTTCCAGG -3'
Posted On 2020-09-15