Incidental Mutation 'R7800:Cby3'
ID600486
Institutional Source Beutler Lab
Gene Symbol Cby3
Ensembl Gene ENSMUSG00000050087
Gene Namechibby family member 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.044) question?
Stock #R7800 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location50354462-50359699 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50359348 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 32 (F32S)
Ref Sequence ENSEMBL: ENSMUSP00000052281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052596] [ENSMUST00000164067]
Predicted Effect probably damaging
Transcript: ENSMUST00000052596
AA Change: F32S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052281
Gene: ENSMUSG00000050087
AA Change: F32S

DomainStartEndE-ValueType
Pfam:Chibby 1 105 5.4e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164067
AA Change: F127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131004
Gene: ENSMUSG00000050087
AA Change: F127S

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: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,187,872 D1264G probably benign Het
Ace T C 11: 105,986,058 F1122S probably damaging Het
Actr10 T G 12: 70,943,509 Y112D probably benign Het
Cacnb1 T G 11: 98,009,295 I346L possibly damaging Het
Camsap2 T C 1: 136,281,901 T607A probably damaging Het
Cers5 G T 15: 99,736,241 H409N probably benign Het
Ces1h A T 8: 93,379,694 L11H Het
Clcnkb T C 4: 141,414,522 Y51C probably benign Het
Cnnm2 A G 19: 46,877,981 E856G probably benign Het
Cnot1 A G 8: 95,765,062 V378A probably benign Het
Crisp4 A C 1: 18,128,749 S154A probably benign Het
Ddx58 T C 4: 40,211,618 E650G probably benign Het
Disp1 C T 1: 183,098,986 R241Q probably benign Het
Ermard G A 17: 15,056,803 R429H probably benign Het
Extl1 C T 4: 134,371,618 G34D probably benign Het
Gen1 T C 12: 11,241,862 D707G probably benign Het
Hist1h1d C A 13: 23,555,367 T93N possibly damaging Het
Igkv5-37 A C 6: 69,963,515 S48R possibly damaging Het
Ilvbl C T 10: 78,583,975 A571V possibly damaging Het
Itgb1 A G 8: 128,713,237 K136E possibly damaging Het
Lhx8 A G 3: 154,321,647 F253L probably damaging Het
Naa25 A G 5: 121,424,531 T459A possibly damaging Het
Nr3c2 A G 8: 76,909,992 Y574C probably damaging Het
Nrxn1 C T 17: 91,089,207 probably benign Het
Ntrk3 T A 7: 78,302,740 R576S probably benign Het
Nup210l A G 3: 90,134,597 Y403C probably damaging Het
Olfr693 A G 7: 106,677,574 V304A probably benign Het
Olfr920 T G 9: 38,756,618 L310W probably damaging Het
Otogl T A 10: 107,886,515 Y326F probably damaging Het
Pcdha1 T A 18: 36,931,373 D363E probably damaging Het
Pcdhb3 T A 18: 37,301,921 N313K probably benign Het
Pcdhb9 A C 18: 37,401,549 S199R probably benign Het
Pde4dip C T 3: 97,715,283 D1537N probably damaging Het
Pinx1 A G 14: 63,919,535 K304E probably benign Het
Pnlip T C 19: 58,681,702 V458A probably benign Het
Polr3a C A 14: 24,484,387 M60I probably null Het
Qrich2 G T 11: 116,456,860 S1046* probably null Het
Rps6ka5 G A 12: 100,558,565 P638S probably damaging Het
Slc6a13 T A 6: 121,321,699 N158K probably damaging Het
Sord T C 2: 122,259,080 V187A probably damaging Het
Sult2a2 A G 7: 13,734,785 T59A probably benign Het
Thbs2 T C 17: 14,676,296 D777G probably damaging Het
Tmed9 A G 13: 55,595,532 D159G probably benign Het
Trbc1 A G 6: 41,539,261 I142V Het
Usp17ld A G 7: 103,250,834 V297A probably damaging Het
Vmn1r167 A T 7: 23,504,644 *316R probably null Het
Wdr59 C A 8: 111,521,938 R15L Het
Zfp189 C T 4: 49,529,367 P157S possibly damaging Het
Zfp407 C T 18: 84,560,675 G771D probably damaging Het
Other mutations in Cby3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Cby3 APN 11 50357811 splice site probably benign
IGL03071:Cby3 APN 11 50359516 missense probably damaging 1.00
R1550:Cby3 UTSW 11 50359486 missense probably damaging 1.00
R1642:Cby3 UTSW 11 50359516 missense probably damaging 1.00
R3747:Cby3 UTSW 11 50359674 makesense probably null
R6378:Cby3 UTSW 11 50359533 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAGGCAATTCTGGGTCGAC -3'
(R):5'- GGGCATCTTTCTCTTCCAGGAG -3'

Sequencing Primer
(F):5'- GCAATTCTGGGTCGACCACTTC -3'
(R):5'- CTCTGTTAGCATGTCCATGAGCAG -3'
Posted On2019-11-26