Incidental Mutation 'IGL00561:Zbbx'
ID 6871
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00561
Quality Score
Status
Chromosome 3
Chromosomal Location 74945214-75072341 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 74968839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039269] [ENSMUST00000107776] [ENSMUST00000107778]
AlphaFold Q0P5X5
Predicted Effect probably null
Transcript: ENSMUST00000039269
SMART Domains Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151

DomainStartEndE-ValueType
Blast:BBOX 13 58 5e-22 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000107776
AA Change: G539D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: G539D

DomainStartEndE-ValueType
Blast:BBOX 13 58 1e-21 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000107778
SMART Domains Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151

DomainStartEndE-ValueType
Blast:BBOX 13 58 5e-22 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T A 4: 73,860,956 (GRCm39) T215S possibly damaging Het
Bcl6b T C 11: 70,119,310 (GRCm39) probably benign Het
C8a G A 4: 104,722,642 (GRCm39) probably benign Het
Cep152 G A 2: 125,405,643 (GRCm39) Q1630* probably null Het
Dnah6 T C 6: 73,172,603 (GRCm39) N285S possibly damaging Het
Elovl5 G A 9: 77,868,256 (GRCm39) R56Q probably benign Het
Fcf1 T C 12: 85,019,835 (GRCm39) V36A probably benign Het
Gdf3 A G 6: 122,584,085 (GRCm39) L94P probably damaging Het
Kcnt2 A T 1: 140,450,836 (GRCm39) H705L probably damaging Het
Ly75 A T 2: 60,206,421 (GRCm39) C83S probably damaging Het
Med12l T A 3: 59,135,245 (GRCm39) S798T probably benign Het
Morc3 G T 16: 93,670,283 (GRCm39) probably null Het
Neb A T 2: 52,096,117 (GRCm39) N1049K probably benign Het
Nlrp6 A G 7: 140,503,037 (GRCm39) D381G probably damaging Het
Pcnx1 A T 12: 82,042,827 (GRCm39) D2303V probably damaging Het
Prss45 A T 9: 110,669,578 (GRCm39) N227I probably damaging Het
Rbbp6 G A 7: 122,570,286 (GRCm39) M34I probably damaging Het
Slc30a7 T C 3: 115,740,369 (GRCm39) probably null Het
Smpdl3a T C 10: 57,684,042 (GRCm39) Y267H probably benign Het
Snw1 A G 12: 87,497,574 (GRCm39) probably null Het
Sp140 G A 1: 85,549,393 (GRCm39) R208K probably benign Het
Tbx19 A G 1: 164,987,968 (GRCm39) V55A probably benign Het
Tmem131 A G 1: 36,850,508 (GRCm39) S1059P probably damaging Het
Tpo G A 12: 30,134,619 (GRCm39) P780S probably damaging Het
Ttn G A 2: 76,570,055 (GRCm39) T26946M probably damaging Het
Vps33b A G 7: 79,935,591 (GRCm39) E372G probably damaging Het
Vwf T C 6: 125,619,684 (GRCm39) V1454A possibly damaging Het
Zfp747l1 T A 7: 126,985,716 (GRCm39) probably benign Het
Other mutations in Zbbx
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4057: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
Posted On 2012-04-20