Incidental Mutation 'IGL00921:Zbtb21'
ID 29143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb21
Ensembl Gene ENSMUSG00000046962
Gene Name zinc finger and BTB domain containing 21
Synonyms Zfp295, Znf295, B430213I24Rik, 5430437K12Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.649) question?
Stock # IGL00921
Quality Score
Status
Chromosome 16
Chromosomal Location 97746993-97763850 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 97753222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 354 (S354A)
Ref Sequence ENSEMBL: ENSMUSP00000068283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052089] [ENSMUST00000063605] [ENSMUST00000113734] [ENSMUST00000231263] [ENSMUST00000231560] [ENSMUST00000232165] [ENSMUST00000232187]
AlphaFold E9Q444
Predicted Effect possibly damaging
Transcript: ENSMUST00000052089
AA Change: S382A

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052127
Gene: ENSMUSG00000046962
AA Change: S382A

DomainStartEndE-ValueType
BTB 58 154 5.14e-18 SMART
low complexity region 461 470 N/A INTRINSIC
low complexity region 480 493 N/A INTRINSIC
ZnF_C2H2 578 598 2.14e2 SMART
ZnF_C2H2 605 628 8.67e-1 SMART
low complexity region 708 728 N/A INTRINSIC
ZnF_C2H2 737 757 2.06e1 SMART
ZnF_C2H2 765 787 4.65e-1 SMART
low complexity region 804 829 N/A INTRINSIC
ZnF_C2H2 871 893 1.79e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000063605
AA Change: S354A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068283
Gene: ENSMUSG00000046962
AA Change: S354A

DomainStartEndE-ValueType
BTB 30 126 5.14e-18 SMART
low complexity region 433 442 N/A INTRINSIC
low complexity region 452 465 N/A INTRINSIC
ZnF_C2H2 549 572 8.09e-1 SMART
ZnF_C2H2 578 601 2.63e0 SMART
ZnF_C2H2 673 695 3.58e-2 SMART
ZnF_C2H2 750 770 2.14e2 SMART
ZnF_C2H2 777 800 8.67e-1 SMART
low complexity region 880 900 N/A INTRINSIC
ZnF_C2H2 909 929 2.06e1 SMART
ZnF_C2H2 937 959 4.65e-1 SMART
low complexity region 976 1001 N/A INTRINSIC
ZnF_C2H2 1043 1065 1.79e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113734
AA Change: S382A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109363
Gene: ENSMUSG00000046962
AA Change: S382A

DomainStartEndE-ValueType
BTB 58 154 5.14e-18 SMART
low complexity region 461 470 N/A INTRINSIC
low complexity region 480 493 N/A INTRINSIC
ZnF_C2H2 577 600 8.09e-1 SMART
ZnF_C2H2 606 629 2.63e0 SMART
ZnF_C2H2 701 723 3.58e-2 SMART
ZnF_C2H2 778 798 2.14e2 SMART
ZnF_C2H2 805 828 8.67e-1 SMART
low complexity region 908 928 N/A INTRINSIC
ZnF_C2H2 937 957 2.06e1 SMART
ZnF_C2H2 965 987 4.65e-1 SMART
low complexity region 1004 1029 N/A INTRINSIC
ZnF_C2H2 1071 1093 1.79e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231256
Predicted Effect probably benign
Transcript: ENSMUST00000231263
Predicted Effect probably benign
Transcript: ENSMUST00000231560
Predicted Effect probably benign
Transcript: ENSMUST00000232165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232010
Predicted Effect probably benign
Transcript: ENSMUST00000232187
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,324,888 (GRCm39) I1530T probably damaging Het
Actb T C 5: 142,890,191 (GRCm39) E237G probably damaging Het
Atrnl1 A G 19: 57,690,585 (GRCm39) E931G probably damaging Het
Cenpc1 T C 5: 86,185,387 (GRCm39) T375A probably benign Het
D1Pas1 A G 1: 186,700,983 (GRCm39) D304G probably benign Het
Ddx49 G A 8: 70,747,406 (GRCm39) Q345* probably null Het
Dnttip2 A T 3: 122,068,939 (GRCm39) K51N probably benign Het
Fxr2 A G 11: 69,543,066 (GRCm39) E621G probably damaging Het
Grhpr A G 4: 44,988,991 (GRCm39) D216G probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hook2 T C 8: 85,729,126 (GRCm39) probably benign Het
Hspbp1 A G 7: 4,667,750 (GRCm39) S248P probably damaging Het
Kat6a C T 8: 23,430,279 (GRCm39) P1878L unknown Het
Klrg1 A T 6: 122,259,711 (GRCm39) D20E probably benign Het
Layn G A 9: 50,968,708 (GRCm39) T345I probably damaging Het
Mpi G A 9: 57,459,549 (GRCm39) L9F probably damaging Het
Nbn T C 4: 15,963,833 (GRCm39) V78A possibly damaging Het
Pkdrej A G 15: 85,701,427 (GRCm39) I1503T probably damaging Het
Pou2f2 C A 7: 24,792,125 (GRCm39) E577* probably null Het
Prim2 G T 1: 33,551,241 (GRCm39) H292Q probably damaging Het
Tg A G 15: 66,636,302 (GRCm39) N630D probably benign Het
Trim80 A G 11: 115,338,490 (GRCm39) N440S probably benign Het
Ttn T C 2: 76,766,746 (GRCm39) S3111G probably damaging Het
Ubash3a A G 17: 31,447,160 (GRCm39) T339A probably benign Het
Zfp335 T C 2: 164,736,696 (GRCm39) T980A possibly damaging Het
Other mutations in Zbtb21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00773:Zbtb21 APN 16 97,753,520 (GRCm39) missense probably benign 0.03
IGL01825:Zbtb21 APN 16 97,753,889 (GRCm39) missense possibly damaging 0.63
IGL02310:Zbtb21 APN 16 97,752,990 (GRCm39) missense possibly damaging 0.89
IGL03126:Zbtb21 APN 16 97,752,945 (GRCm39) missense probably damaging 1.00
IGL03332:Zbtb21 APN 16 97,753,533 (GRCm39) missense possibly damaging 0.94
R0165:Zbtb21 UTSW 16 97,752,604 (GRCm39) missense probably damaging 1.00
R0184:Zbtb21 UTSW 16 97,751,713 (GRCm39) missense probably damaging 1.00
R0267:Zbtb21 UTSW 16 97,753,300 (GRCm39) missense probably damaging 1.00
R0734:Zbtb21 UTSW 16 97,753,827 (GRCm39) missense probably damaging 1.00
R1546:Zbtb21 UTSW 16 97,753,227 (GRCm39) missense probably damaging 0.97
R1565:Zbtb21 UTSW 16 97,753,627 (GRCm39) missense probably benign 0.00
R1778:Zbtb21 UTSW 16 97,751,785 (GRCm39) missense probably benign 0.02
R2049:Zbtb21 UTSW 16 97,751,355 (GRCm39) missense probably damaging 1.00
R4086:Zbtb21 UTSW 16 97,753,963 (GRCm39) missense probably damaging 1.00
R4619:Zbtb21 UTSW 16 97,751,092 (GRCm39) missense possibly damaging 0.95
R4620:Zbtb21 UTSW 16 97,751,092 (GRCm39) missense possibly damaging 0.95
R4754:Zbtb21 UTSW 16 97,752,466 (GRCm39) missense probably damaging 1.00
R4785:Zbtb21 UTSW 16 97,751,655 (GRCm39) missense possibly damaging 0.60
R5466:Zbtb21 UTSW 16 97,751,698 (GRCm39) missense possibly damaging 0.66
R5989:Zbtb21 UTSW 16 97,752,699 (GRCm39) missense probably damaging 1.00
R6374:Zbtb21 UTSW 16 97,751,568 (GRCm39) missense probably damaging 0.98
R6469:Zbtb21 UTSW 16 97,757,972 (GRCm39) missense probably benign 0.01
R6732:Zbtb21 UTSW 16 97,752,282 (GRCm39) missense probably damaging 0.97
R6830:Zbtb21 UTSW 16 97,753,161 (GRCm39) missense probably damaging 1.00
R7123:Zbtb21 UTSW 16 97,751,112 (GRCm39) missense probably damaging 0.96
R7129:Zbtb21 UTSW 16 97,752,887 (GRCm39) small deletion probably benign
R7261:Zbtb21 UTSW 16 97,754,179 (GRCm39) missense possibly damaging 0.46
R7305:Zbtb21 UTSW 16 97,752,495 (GRCm39) missense possibly damaging 0.92
R7372:Zbtb21 UTSW 16 97,751,569 (GRCm39) missense possibly damaging 0.55
R7564:Zbtb21 UTSW 16 97,752,740 (GRCm39) nonsense probably null
R7670:Zbtb21 UTSW 16 97,753,077 (GRCm39) missense probably damaging 0.99
R7788:Zbtb21 UTSW 16 97,752,654 (GRCm39) missense possibly damaging 0.62
R8142:Zbtb21 UTSW 16 97,752,675 (GRCm39) missense probably damaging 0.98
R8547:Zbtb21 UTSW 16 97,753,315 (GRCm39) missense possibly damaging 0.46
R8822:Zbtb21 UTSW 16 97,752,516 (GRCm39) missense probably damaging 0.99
R8823:Zbtb21 UTSW 16 97,752,516 (GRCm39) missense probably damaging 0.99
R9675:Zbtb21 UTSW 16 97,752,945 (GRCm39) missense probably damaging 1.00
X0022:Zbtb21 UTSW 16 97,753,275 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17