Incidental Mutation 'R8545:Cby3'
ID 659594
Institutional Source Beutler Lab
Gene Symbol Cby3
Ensembl Gene ENSMUSG00000050087
Gene Name chibby family member 3
Synonyms 1700121K02Rik
MMRRC Submission 068510-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 50248588-50250529 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50250243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 150 (S150P)
Ref Sequence ENSEMBL: ENSMUSP00000131004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052596] [ENSMUST00000164067]
AlphaFold Q9CVN6
Predicted Effect probably benign
Transcript: ENSMUST00000052596
AA Change: S55P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052281
Gene: ENSMUSG00000050087
AA Change: S55P

DomainStartEndE-ValueType
Pfam:Chibby 1 105 5.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164067
AA Change: S150P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131004
Gene: ENSMUSG00000050087
AA Change: S150P

DomainStartEndE-ValueType
low complexity region 14 32 N/A INTRINSIC
Pfam:Chibby 76 199 1.1e-38 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,236,794 (GRCm39) Y1779C probably damaging Het
Apc A G 18: 34,450,084 (GRCm39) N2293D possibly damaging Het
Arhgap30 T C 1: 171,234,998 (GRCm39) L488P probably damaging Het
Arhgap31 T A 16: 38,423,408 (GRCm39) Q886L probably damaging Het
Arhgef10 T G 8: 14,978,868 (GRCm39) V45G probably benign Het
Arhgef10 A G 8: 15,025,931 (GRCm39) T812A possibly damaging Het
Bbs2 T C 8: 94,813,352 (GRCm39) S246G probably benign Het
Cdc40 A G 10: 40,723,939 (GRCm39) V283A probably benign Het
Cox15 A T 19: 43,728,421 (GRCm39) V284E probably damaging Het
Cyp4a12b A T 4: 115,290,227 (GRCm39) H260L probably benign Het
Dph6 G A 2: 114,478,248 (GRCm39) A31V probably damaging Het
Dsc2 G A 18: 20,167,722 (GRCm39) Q123* probably null Het
Eftud2 A G 11: 102,731,097 (GRCm39) F810S probably damaging Het
Erich3 A T 3: 154,467,996 (GRCm39) probably benign Het
Gm49368 T C 7: 127,679,433 (GRCm39) Y192H probably damaging Het
Herc1 T A 9: 66,279,257 (GRCm39) L55* probably null Het
Hgsnat T C 8: 26,445,707 (GRCm39) T396A probably benign Het
Il17rd T G 14: 26,813,886 (GRCm39) F55C probably damaging Het
Mad1l1 A C 5: 140,286,249 (GRCm39) M250R probably benign Het
Muc15 A T 2: 110,561,581 (GRCm39) K6* probably null Het
Muc2 A G 7: 141,306,130 (GRCm39) N273S unknown Het
Myh1 T A 11: 67,093,027 (GRCm39) Y78N probably benign Het
Pcdh20 T A 14: 88,706,601 (GRCm39) H233L probably damaging Het
Pcnx4 G A 12: 72,602,856 (GRCm39) A373T probably benign Het
Phf3 A T 1: 30,863,391 (GRCm39) M778K possibly damaging Het
Pigg A T 5: 108,489,726 (GRCm39) D644V probably damaging Het
Rnf148 A T 6: 23,654,570 (GRCm39) I142N probably damaging Het
Ryr1 T C 7: 28,704,239 (GRCm39) probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tapbp A G 17: 34,139,291 (GRCm39) M87V possibly damaging Het
Tbccd1 T C 16: 22,652,779 (GRCm39) Y114C probably benign Het
Tet1 A T 10: 62,648,718 (GRCm39) W1905R probably damaging Het
Tmem109 G A 19: 10,851,734 (GRCm39) R37* probably null Het
Wdfy4 T C 14: 32,800,258 (GRCm39) Y1802C probably benign Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zcchc4 G A 5: 52,976,741 (GRCm39) probably benign Het
Zfp646 T C 7: 127,484,662 (GRCm39) S1772P probably benign Het
Zfp820 A G 17: 22,038,438 (GRCm39) C297R probably 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
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
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
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'- TGCGCCATATCTCATCCATG -3'
(R):5'- ATTATAAGTACTCCCGCGCCCC -3'

Sequencing Primer
(F):5'- ATGTCCACCTTCTATCTGCTGGAC -3'
(R):5'- GGGCATCTTTCTCTTCCAGGAG -3'
Posted On 2021-01-18