Incidental Mutation 'IGL00573:Zbtb40'
ID 14908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb40
Ensembl Gene ENSMUSG00000060862
Gene Name zinc finger and BTB domain containing 40
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL00573
Quality Score
Status
Chromosome 4
Chromosomal Location 136707043-136776112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136745389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 215 (P215S)
Ref Sequence ENSEMBL: ENSMUSP00000061899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049583]
AlphaFold Q6PCS8
Predicted Effect probably benign
Transcript: ENSMUST00000049583
AA Change: P215S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: P215S

DomainStartEndE-ValueType
low complexity region 8 14 N/A INTRINSIC
BTB 24 117 3.39e-18 SMART
low complexity region 150 170 N/A INTRINSIC
low complexity region 525 533 N/A INTRINSIC
low complexity region 725 741 N/A INTRINSIC
ZnF_C2H2 754 774 4.86e1 SMART
low complexity region 786 801 N/A INTRINSIC
ZnF_C2H2 825 848 1.16e-1 SMART
ZnF_C2H2 854 876 1.1e-2 SMART
ZnF_C2H2 882 905 1.16e-1 SMART
ZnF_C2H2 911 933 1.2e-3 SMART
ZnF_C2H2 939 962 8.81e-2 SMART
ZnF_C2H2 969 992 7.05e-1 SMART
ZnF_C2H2 997 1019 1.47e-3 SMART
ZnF_C2H2 1025 1047 2.86e-1 SMART
ZnF_C2H2 1065 1088 6.67e-2 SMART
ZnF_C2H2 1094 1117 6.23e-2 SMART
ZnF_C2H2 1123 1146 1.53e-1 SMART
ZnF_C2H2 1154 1177 1.56e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145505
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,877,704 (GRCm39) D687G probably benign Het
Cd69 C A 6: 129,245,283 (GRCm39) V140F probably damaging Het
Cep290 C T 10: 100,376,223 (GRCm39) P1437L probably damaging Het
Chd4 T C 6: 125,086,860 (GRCm39) Y1023H probably damaging Het
Col6a4 T A 9: 105,900,095 (GRCm39) Y1676F probably benign Het
Ctnna2 A C 6: 76,879,264 (GRCm39) probably benign Het
Cwf19l2 T C 9: 3,450,161 (GRCm39) probably benign Het
Fbln1 A T 15: 85,111,238 (GRCm39) M131L probably benign Het
Flcn A G 11: 59,686,649 (GRCm39) V368A probably damaging Het
Marveld2 A T 13: 100,734,367 (GRCm39) probably benign Het
Mcm8 A G 2: 132,674,732 (GRCm39) Y400C possibly damaging Het
Mdn1 T C 4: 32,666,619 (GRCm39) probably null Het
Nedd4 T A 9: 72,593,338 (GRCm39) probably null Het
Nlrp3 C T 11: 59,455,942 (GRCm39) H913Y possibly damaging Het
Pkd1 G T 17: 24,813,504 (GRCm39) E4015* probably null Het
Plscr1 C T 9: 92,146,732 (GRCm39) L125F probably benign Het
Trim30c T A 7: 104,031,838 (GRCm39) I326L possibly damaging Het
Tsga10 T C 1: 37,846,151 (GRCm39) D325G probably damaging Het
Tubgcp4 A G 2: 121,009,182 (GRCm39) Y158C probably damaging Het
Zfp568 A T 7: 29,721,865 (GRCm39) H269L possibly damaging Het
Zmynd11 T G 13: 9,739,262 (GRCm39) E510A probably damaging Het
Other mutations in Zbtb40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Zbtb40 APN 4 136,714,651 (GRCm39) missense probably damaging 0.99
IGL00774:Zbtb40 APN 4 136,721,835 (GRCm39) missense probably damaging 1.00
R0046:Zbtb40 UTSW 4 136,714,589 (GRCm39) missense probably damaging 1.00
R0046:Zbtb40 UTSW 4 136,714,589 (GRCm39) missense probably damaging 1.00
R0334:Zbtb40 UTSW 4 136,713,867 (GRCm39) missense probably damaging 1.00
R0393:Zbtb40 UTSW 4 136,745,842 (GRCm39) missense probably benign 0.09
R0482:Zbtb40 UTSW 4 136,710,539 (GRCm39) missense probably damaging 1.00
R1457:Zbtb40 UTSW 4 136,712,148 (GRCm39) missense possibly damaging 0.81
R1846:Zbtb40 UTSW 4 136,735,150 (GRCm39) missense probably benign 0.00
R2153:Zbtb40 UTSW 4 136,718,946 (GRCm39) missense probably damaging 1.00
R2206:Zbtb40 UTSW 4 136,744,596 (GRCm39) nonsense probably null
R2291:Zbtb40 UTSW 4 136,712,328 (GRCm39) missense possibly damaging 0.78
R2406:Zbtb40 UTSW 4 136,725,879 (GRCm39) missense probably benign 0.34
R3707:Zbtb40 UTSW 4 136,726,879 (GRCm39) missense probably damaging 1.00
R4131:Zbtb40 UTSW 4 136,722,707 (GRCm39) missense probably benign 0.00
R4243:Zbtb40 UTSW 4 136,745,860 (GRCm39) missense probably benign 0.00
R4424:Zbtb40 UTSW 4 136,726,005 (GRCm39) missense probably damaging 0.96
R4725:Zbtb40 UTSW 4 136,746,072 (GRCm39) utr 5 prime probably benign
R4784:Zbtb40 UTSW 4 136,734,408 (GRCm39) missense probably damaging 1.00
R4795:Zbtb40 UTSW 4 136,725,953 (GRCm39) missense probably benign 0.00
R4796:Zbtb40 UTSW 4 136,725,953 (GRCm39) missense probably benign 0.00
R4838:Zbtb40 UTSW 4 136,728,527 (GRCm39) missense probably benign 0.15
R4859:Zbtb40 UTSW 4 136,716,070 (GRCm39) missense probably damaging 0.98
R4883:Zbtb40 UTSW 4 136,728,241 (GRCm39) missense probably benign 0.09
R5001:Zbtb40 UTSW 4 136,723,461 (GRCm39) missense probably damaging 1.00
R5030:Zbtb40 UTSW 4 136,725,263 (GRCm39) missense probably benign 0.00
R5060:Zbtb40 UTSW 4 136,728,604 (GRCm39) missense possibly damaging 0.71
R5529:Zbtb40 UTSW 4 136,710,474 (GRCm39) missense possibly damaging 0.90
R5536:Zbtb40 UTSW 4 136,714,642 (GRCm39) missense probably damaging 1.00
R5589:Zbtb40 UTSW 4 136,722,594 (GRCm39) missense probably damaging 1.00
R6114:Zbtb40 UTSW 4 136,716,002 (GRCm39) missense probably damaging 1.00
R6393:Zbtb40 UTSW 4 136,712,177 (GRCm39) missense probably null
R7208:Zbtb40 UTSW 4 136,726,937 (GRCm39) splice site probably null
R7406:Zbtb40 UTSW 4 136,728,205 (GRCm39) missense probably benign 0.29
R7722:Zbtb40 UTSW 4 136,718,829 (GRCm39) missense probably damaging 0.98
R7803:Zbtb40 UTSW 4 136,744,638 (GRCm39) missense probably benign
R8292:Zbtb40 UTSW 4 136,726,878 (GRCm39) missense probably damaging 1.00
R8735:Zbtb40 UTSW 4 136,725,957 (GRCm39) missense probably damaging 1.00
R8890:Zbtb40 UTSW 4 136,725,897 (GRCm39) missense probably damaging 1.00
R9003:Zbtb40 UTSW 4 136,745,904 (GRCm39) missense probably damaging 1.00
R9290:Zbtb40 UTSW 4 136,745,529 (GRCm39) missense probably benign 0.00
R9328:Zbtb40 UTSW 4 136,745,620 (GRCm39) missense probably benign 0.00
RF014:Zbtb40 UTSW 4 136,744,617 (GRCm39) missense probably benign 0.20
Z1176:Zbtb40 UTSW 4 136,722,774 (GRCm39) missense probably damaging 1.00
Z1177:Zbtb40 UTSW 4 136,745,335 (GRCm39) nonsense probably null
Posted On 2012-12-06