Incidental Mutation 'R4057:Zbbx'
ID 314278
Institutional Source Beutler Lab
Gene Symbol Zbbx
Ensembl Gene ENSMUSG00000034151
Gene Name zinc finger, B-box domain containing
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4057 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 74945214-75072341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75012978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 151 (G151E)
Ref Sequence ENSEMBL: ENSMUSP00000103405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039269] [ENSMUST00000107775] [ENSMUST00000107776] [ENSMUST00000107778]
AlphaFold Q0P5X5
Predicted Effect possibly damaging
Transcript: ENSMUST00000039269
AA Change: G151E

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: G151E

DomainStartEndE-ValueType
Blast:BBOX 13 58 5e-22 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000107775
AA Change: G151E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103404
Gene: ENSMUSG00000034151
AA Change: G151E

DomainStartEndE-ValueType
Pfam:zf-B_box 12 58 3.9e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107776
AA Change: G151E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: G151E

DomainStartEndE-ValueType
Blast:BBOX 13 58 1e-21 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000107778
AA Change: G151E

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: G151E

DomainStartEndE-ValueType
Blast:BBOX 13 58 5e-22 BLAST
Meta Mutation Damage Score 0.1153 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 95% (36/38)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,270,807 (GRCm39) I510T possibly damaging Het
Asb2 A G 12: 103,291,653 (GRCm39) Y377H probably benign Het
Cars1 T C 7: 143,124,385 (GRCm39) E347G probably damaging Het
Cfap91 A G 16: 38,118,576 (GRCm39) V741A probably benign Het
Cplane1 T A 15: 8,248,509 (GRCm39) M1686K probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dst T C 1: 34,225,135 (GRCm39) probably benign Het
Emcn C A 3: 137,085,660 (GRCm39) T86K probably damaging Het
Fcgbp A T 7: 27,803,541 (GRCm39) Q1715L probably benign Het
Hmcn2 A G 2: 31,290,250 (GRCm39) Y2361C probably damaging Het
Hpse2 T C 19: 43,282,714 (GRCm39) K180E probably damaging Het
Ints2 A C 11: 86,133,778 (GRCm39) L424R probably damaging Het
Kalrn A T 16: 34,134,579 (GRCm39) I401N probably damaging Het
Ltbp1 G T 17: 75,617,189 (GRCm39) G725C probably damaging Het
Myo3a T A 2: 22,270,971 (GRCm39) M144K probably benign Het
Nav3 A T 10: 109,716,394 (GRCm39) probably null Het
Neb A T 2: 52,096,711 (GRCm39) V5000D possibly damaging Het
Neb G T 2: 52,127,120 (GRCm39) A3534E probably benign Het
Nlrp9a T A 7: 26,270,071 (GRCm39) C833S probably benign Het
Npas1 C A 7: 16,208,712 (GRCm39) R55L probably damaging Het
Or52n20 A G 7: 104,320,476 (GRCm39) K189R probably damaging Het
P2ry10 T C X: 106,146,862 (GRCm39) C266R probably damaging Het
Pcdh1 T C 18: 38,331,950 (GRCm39) E351G probably damaging Het
Plce1 A T 19: 38,748,563 (GRCm39) R1751W probably damaging Het
Plekhn1 T C 4: 156,309,150 (GRCm39) probably null Het
Por A G 5: 135,760,428 (GRCm39) Y245C probably damaging Het
Ptprm A C 17: 67,382,658 (GRCm39) I158S possibly damaging Het
Rsf1 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sbf2 T C 7: 110,040,673 (GRCm39) I385V probably damaging Het
Serpina3m A C 12: 104,357,996 (GRCm39) probably benign Het
Sox5 G T 6: 144,062,248 (GRCm39) R135S probably damaging Het
Stag2 A G X: 41,313,819 (GRCm39) T228A probably damaging Het
Wif1 G A 10: 120,918,099 (GRCm39) V156I probably benign Het
Other mutations in Zbbx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Zbbx APN 3 74,968,839 (GRCm39) critical splice donor site probably null
IGL01328:Zbbx APN 3 75,000,382 (GRCm39) nonsense probably null
IGL01340:Zbbx APN 3 75,012,957 (GRCm39) missense possibly damaging 0.53
IGL01631:Zbbx APN 3 74,985,984 (GRCm39) missense probably damaging 0.99
IGL01681:Zbbx APN 3 74,959,785 (GRCm39) missense probably damaging 1.00
IGL02427:Zbbx APN 3 75,046,905 (GRCm39) missense probably benign 0.04
IGL03077:Zbbx APN 3 74,989,153 (GRCm39) missense possibly damaging 0.61
IGL03115:Zbbx APN 3 74,985,867 (GRCm39) missense probably benign 0.03
IGL03162:Zbbx APN 3 74,978,930 (GRCm39) splice site probably benign
Eland UTSW 3 74,979,019 (GRCm39) missense probably benign 0.01
PIT4480001:Zbbx UTSW 3 75,043,794 (GRCm39) missense probably damaging 1.00
PIT4495001:Zbbx UTSW 3 74,968,944 (GRCm39) missense probably damaging 1.00
R0179:Zbbx UTSW 3 74,992,869 (GRCm39) splice site probably benign
R0396:Zbbx UTSW 3 74,985,802 (GRCm39) missense possibly damaging 0.81
R0523:Zbbx UTSW 3 74,989,165 (GRCm39) missense probably benign 0.03
R0603:Zbbx UTSW 3 74,985,757 (GRCm39) missense probably benign 0.05
R0745:Zbbx UTSW 3 75,062,734 (GRCm39) missense probably damaging 1.00
R0747:Zbbx UTSW 3 75,062,734 (GRCm39) missense probably damaging 1.00
R1208:Zbbx UTSW 3 74,945,299 (GRCm39) missense possibly damaging 0.94
R1208:Zbbx UTSW 3 74,945,299 (GRCm39) missense possibly damaging 0.94
R1371:Zbbx UTSW 3 74,959,784 (GRCm39) missense possibly damaging 0.58
R1769:Zbbx UTSW 3 74,990,926 (GRCm39) splice site probably benign
R1906:Zbbx UTSW 3 74,979,047 (GRCm39) missense probably damaging 1.00
R2069:Zbbx UTSW 3 74,985,719 (GRCm39) missense probably benign 0.01
R2165:Zbbx UTSW 3 75,019,414 (GRCm39) missense probably damaging 0.99
R2174:Zbbx UTSW 3 74,959,721 (GRCm39) missense possibly damaging 0.93
R2979:Zbbx UTSW 3 74,985,793 (GRCm39) nonsense probably null
R3121:Zbbx UTSW 3 74,989,153 (GRCm39) missense possibly damaging 0.88
R3755:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R3756:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R3816:Zbbx UTSW 3 74,992,802 (GRCm39) missense probably benign 0.00
R4002:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4003:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4072:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4073:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4075:Zbbx UTSW 3 75,012,978 (GRCm39) missense probably damaging 1.00
R4114:Zbbx UTSW 3 75,046,905 (GRCm39) missense probably benign 0.04
R4784:Zbbx UTSW 3 74,992,348 (GRCm39) missense probably benign 0.05
R4821:Zbbx UTSW 3 74,989,054 (GRCm39) missense possibly damaging 0.68
R5008:Zbbx UTSW 3 75,058,755 (GRCm39) missense possibly damaging 0.62
R5030:Zbbx UTSW 3 74,990,990 (GRCm39) missense possibly damaging 0.83
R5388:Zbbx UTSW 3 74,990,977 (GRCm39) missense probably damaging 0.98
R6398:Zbbx UTSW 3 74,985,872 (GRCm39) missense probably damaging 0.96
R6462:Zbbx UTSW 3 74,985,966 (GRCm39) missense probably benign 0.07
R6597:Zbbx UTSW 3 75,043,761 (GRCm39) missense probably damaging 1.00
R6882:Zbbx UTSW 3 74,979,019 (GRCm39) missense probably benign 0.01
R7084:Zbbx UTSW 3 75,046,853 (GRCm39) missense possibly damaging 0.92
R7096:Zbbx UTSW 3 74,989,044 (GRCm39) missense probably benign 0.03
R7102:Zbbx UTSW 3 75,019,401 (GRCm39) missense probably benign 0.06
R7256:Zbbx UTSW 3 74,947,205 (GRCm39) missense probably benign 0.02
R7537:Zbbx UTSW 3 74,992,826 (GRCm39) missense probably damaging 1.00
R7836:Zbbx UTSW 3 74,985,781 (GRCm39) missense possibly damaging 0.65
R7905:Zbbx UTSW 3 74,992,820 (GRCm39) missense probably benign 0.23
R8110:Zbbx UTSW 3 75,062,749 (GRCm39) missense possibly damaging 0.58
R8367:Zbbx UTSW 3 74,989,034 (GRCm39) critical splice donor site probably null
R8772:Zbbx UTSW 3 75,062,692 (GRCm39) missense probably benign 0.37
R8859:Zbbx UTSW 3 74,968,741 (GRCm39) missense unknown
R9012:Zbbx UTSW 3 74,968,960 (GRCm39) missense possibly damaging 0.73
R9062:Zbbx UTSW 3 74,989,124 (GRCm39) missense possibly damaging 0.78
R9119:Zbbx UTSW 3 74,985,897 (GRCm39) missense probably damaging 0.99
R9401:Zbbx UTSW 3 75,019,390 (GRCm39) missense probably benign 0.26
R9531:Zbbx UTSW 3 74,985,865 (GRCm39) missense probably damaging 1.00
R9678:Zbbx UTSW 3 75,046,841 (GRCm39) missense probably damaging 1.00
R9736:Zbbx UTSW 3 74,968,741 (GRCm39) missense unknown
R9780:Zbbx UTSW 3 74,945,359 (GRCm39) missense probably damaging 1.00
Z1177:Zbbx UTSW 3 75,012,991 (GRCm39) missense probably damaging 0.98
Z1177:Zbbx UTSW 3 74,979,090 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AATCTCCCTTGGGAAGCTCTAGC -3'
(R):5'- TGAGCCAACCATTTATAACTGC -3'

Sequencing Primer
(F):5'- CCCTTGGGAAGCTCTAGCAAATTG -3'
(R):5'- TCATGTCCTGATAAGATGCAGG -3'
Posted On 2015-04-30