Incidental Mutation 'R3747:Cby3'
ID 309884
Institutional Source Beutler Lab
Gene Symbol Cby3
Ensembl Gene ENSMUSG00000050087
Gene Name chibby family member 3
Synonyms 1700121K02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R3747 (G1)
Quality Score 154
Status Not validated
Chromosome 11
Chromosomal Location 50248588-50250529 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 50250501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 236 (*236R)
Ref Sequence ENSEMBL: ENSMUSP00000131004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052596] [ENSMUST00000164067]
AlphaFold Q9CVN6
Predicted Effect probably null
Transcript: ENSMUST00000052596
AA Change: *141R
SMART Domains Protein: ENSMUSP00000052281
Gene: ENSMUSG00000050087
AA Change: *141R

DomainStartEndE-ValueType
Pfam:Chibby 1 105 5.4e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103251
Predicted Effect probably null
Transcript: ENSMUST00000164067
AA Change: *236R
SMART Domains Protein: ENSMUSP00000131004
Gene: ENSMUSG00000050087
AA Change: *236R

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Pfam:Chibby 76 199 1.1e-38 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abhd18 A G 3: 40,888,008 (GRCm39) N284S probably benign Het
Adam12 T C 7: 133,774,594 (GRCm39) D5G probably damaging Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Aga T A 8: 53,970,856 (GRCm39) I192N probably benign Het
Ago1 A G 4: 126,354,837 (GRCm39) I125T probably benign Het
Alk A G 17: 72,218,560 (GRCm39) S762P probably damaging Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Clcn1 T A 6: 42,276,849 (GRCm39) Y393N probably damaging Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Cyp3a16 T A 5: 145,378,881 (GRCm39) K380M probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Dazap1 C T 10: 80,123,498 (GRCm39) R391C possibly damaging Het
Dgkh T A 14: 78,821,885 (GRCm39) E876V probably damaging Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam221a A G 6: 49,349,630 (GRCm39) D2G probably damaging Het
Fam43a C T 16: 30,420,664 (GRCm39) T416I probably benign Het
Fam90a1a C A 8: 22,453,221 (GRCm39) S192* probably null Het
Foxd1 G C 13: 98,492,424 (GRCm39) A433P unknown Het
Garin4 T G 1: 190,896,207 (GRCm39) Q145H probably damaging Het
Gm10152 G A 7: 144,316,937 (GRCm39) probably null Het
Hipk3 T A 2: 104,271,628 (GRCm39) R435* probably null Het
Hnrnpab T A 11: 51,493,473 (GRCm39) Y245F probably benign Het
Islr2 A T 9: 58,106,925 (GRCm39) S112T probably benign Het
Itgb7 A T 15: 102,131,212 (GRCm39) V280D probably damaging Het
Kndc1 G A 7: 139,507,817 (GRCm39) probably null Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nbeal1 A G 1: 60,234,182 (GRCm39) D51G probably damaging Het
Ncoa6 G A 2: 155,253,561 (GRCm39) P939L probably benign Het
Ndst3 A G 3: 123,465,201 (GRCm39) I257T probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,795 (GRCm39) probably benign Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Osbpl7 T C 11: 96,946,879 (GRCm39) V223A probably damaging Het
Pcm1 T C 8: 41,785,041 (GRCm39) I2064T probably benign Het
Pkd1 A G 17: 24,810,435 (GRCm39) R90G possibly damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Ppil4 A T 10: 7,690,457 (GRCm39) Q370L probably benign Het
Pramel18 T A 4: 101,767,073 (GRCm39) D107E possibly damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Rb1cc1 T G 1: 6,318,966 (GRCm39) V778G possibly damaging Het
Sgms1 A T 19: 32,136,994 (GRCm39) S191T possibly damaging Het
Sned1 T A 1: 93,189,473 (GRCm39) F303Y probably damaging Het
Sp9 T A 2: 73,104,652 (GRCm39) M402K probably damaging Het
Spon1 T C 7: 113,365,621 (GRCm39) L19P probably damaging Het
Spon1 T A 7: 113,616,024 (GRCm39) V297E possibly damaging Het
Tlr5 T C 1: 182,802,004 (GRCm39) I436T probably benign Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Ugt1a6a T C 1: 88,066,871 (GRCm39) Y226H probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Ush2a G A 1: 188,542,489 (GRCm39) G3352S probably benign Het
Vmn1r39 T C 6: 66,781,854 (GRCm39) N155D probably benign Het
Vwa5b2 A G 16: 20,417,076 (GRCm39) probably benign Het
Yipf4 G A 17: 74,803,667 (GRCm39) probably null Het
Zdhhc17 T C 10: 110,780,281 (GRCm39) I624M probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly damaging 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
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
R7986:Cby3 UTSW 11 50,250,106 (GRCm39) missense possibly damaging 0.92
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'- GAACTGCTCATGGACATGCT -3'
(R):5'- TGGGAAAGCAGAACCTAAGGTTT -3'

Sequencing Primer
(F):5'- TGCTCATGGACATGCTAACAG -3'
(R):5'- AACCTAAGGTTTGGAGAAAAATCC -3'
Posted On 2015-04-17