Incidental Mutation 'IGL02850:Zbtb22'
ID 361834
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb22
Ensembl Gene ENSMUSG00000051390
Gene Name zinc finger and BTB domain containing 22
Synonyms Bing1, 1110008J20Rik, Zfp297
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # IGL02850
Quality Score
Status
Chromosome 17
Chromosomal Location 34135150-34138299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34135987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 44 (L44Q)
Ref Sequence ENSEMBL: ENSMUSP00000133345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025161] [ENSMUST00000053429] [ENSMUST00000079421] [ENSMUST00000170075] [ENSMUST00000172619] [ENSMUST00000174463] [ENSMUST00000174541] [ENSMUST00000174146]
AlphaFold Q9Z0G7
Predicted Effect probably benign
Transcript: ENSMUST00000025161
SMART Domains Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 48 65 N/A INTRINSIC
low complexity region 127 152 N/A INTRINSIC
IG 168 292 3.45e0 SMART
IG_like 302 406 4.78e1 SMART
transmembrane domain 416 438 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000053429
AA Change: L44Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390
AA Change: L44Q

DomainStartEndE-ValueType
low complexity region 3 30 N/A INTRINSIC
BTB 57 151 7.21e-22 SMART
low complexity region 152 176 N/A INTRINSIC
low complexity region 317 355 N/A INTRINSIC
low complexity region 390 403 N/A INTRINSIC
low complexity region 431 443 N/A INTRINSIC
low complexity region 460 479 N/A INTRINSIC
ZnF_C2H2 483 504 1.24e2 SMART
ZnF_C2H2 510 532 1.28e-3 SMART
ZnF_C2H2 538 559 4.69e0 SMART
low complexity region 567 587 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079421
SMART Domains Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
Pfam:Daxx 54 152 1.3e-51 PFAM
Blast:KISc 185 261 2e-17 BLAST
PDB:4H9S|F 189 404 1e-131 PDB
SCOP:d1sig__ 437 493 7e-3 SMART
low complexity region 573 584 N/A INTRINSIC
low complexity region 693 715 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170075
SMART Domains Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307

DomainStartEndE-ValueType
Pfam:Daxx 1 740 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172489
SMART Domains Protein: ENSMUSP00000133332
Gene: ENSMUSG00000024308

DomainStartEndE-ValueType
IG 18 142 3.45e0 SMART
SCOP:d2fbjh2 143 189 2e-3 SMART
Blast:IG_like 152 206 6e-31 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172619
SMART Domains Protein: ENSMUSP00000134695
Gene: ENSMUSG00000024308

DomainStartEndE-ValueType
PDB:3F8U|D 12 119 1e-38 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000174463
AA Change: L44Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133345
Gene: ENSMUSG00000051390
AA Change: L44Q

DomainStartEndE-ValueType
low complexity region 3 30 N/A INTRINSIC
Pfam:BTB 47 87 7.9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185388
Predicted Effect probably benign
Transcript: ENSMUST00000174541
SMART Domains Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307

DomainStartEndE-ValueType
Pfam:Daxx 1 702 1.5e-297 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174146
SMART Domains Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307

DomainStartEndE-ValueType
Pfam:Daxx 1 740 N/A PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,843,993 (GRCm39) Y229C probably damaging Het
Adgrd1 A G 5: 129,192,119 (GRCm39) D63G probably damaging Het
Ahnak A G 19: 8,979,960 (GRCm39) T415A probably benign Het
Antxr2 A G 5: 98,151,937 (GRCm39) V178A probably damaging Het
Ap1s1 A G 5: 137,070,634 (GRCm39) Y127H possibly damaging Het
Bbs2 A T 8: 94,803,710 (GRCm39) M510K probably benign Het
Cbfa2t2 A G 2: 154,377,090 (GRCm39) N591S probably damaging Het
Chd6 T A 2: 160,861,536 (GRCm39) R504* probably null Het
Cnpy3 A G 17: 47,054,217 (GRCm39) probably benign Het
Cntn2 T G 1: 132,446,114 (GRCm39) K824T probably benign Het
Cntnap3 T C 13: 64,905,223 (GRCm39) T853A probably damaging Het
Cog4 G A 8: 111,593,221 (GRCm39) G444D possibly damaging Het
Col18a1 A T 10: 76,932,300 (GRCm39) I510N probably damaging Het
Cxcr5 G A 9: 44,425,403 (GRCm39) R85W probably damaging Het
Cyth3 C A 5: 143,672,259 (GRCm39) T58K probably damaging Het
Dio3 T C 12: 110,245,970 (GRCm39) V102A probably damaging Het
Dmbx1 G A 4: 115,775,204 (GRCm39) R359C probably damaging Het
Fam3d C T 14: 8,361,475 (GRCm38) probably null Het
Fras1 C A 5: 96,926,034 (GRCm39) P3746Q probably damaging Het
Glt1d1 T A 5: 127,721,409 (GRCm39) M32K probably benign Het
Hunk A G 16: 90,229,460 (GRCm39) N31S probably damaging Het
Ints11 T C 4: 155,959,761 (GRCm39) S123P probably benign Het
Izumo2 T C 7: 44,358,339 (GRCm39) L58S probably damaging Het
Izumo4 A G 10: 80,540,032 (GRCm39) probably benign Het
Kcnh7 T A 2: 62,618,029 (GRCm39) K487* probably null Het
Lrp12 T C 15: 39,741,971 (GRCm39) Y248C probably damaging Het
Maco1 T C 4: 134,555,697 (GRCm39) K259E probably benign Het
Map3k4 T C 17: 12,490,801 (GRCm39) D210G probably damaging Het
Mast4 T C 13: 102,890,740 (GRCm39) D1038G probably damaging Het
Noa1 T C 5: 77,442,338 (GRCm39) T651A probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Npvf G A 6: 50,629,670 (GRCm39) R107W probably benign Het
Or10ad1b A G 15: 98,125,232 (GRCm39) V98A probably benign Het
Or2h2c T C 17: 37,422,865 (GRCm39) N3S probably benign Het
Oxr1 A G 15: 41,718,329 (GRCm39) T775A probably damaging Het
P2ry13 C T 3: 59,117,029 (GRCm39) A250T probably damaging Het
Pcsk9 A T 4: 106,316,062 (GRCm39) V127E probably damaging Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Pinx1 A G 14: 64,156,609 (GRCm39) T179A probably damaging Het
Pjvk T C 2: 76,488,795 (GRCm39) V322A possibly damaging Het
Pla2r1 T A 2: 60,332,413 (GRCm39) R476S probably benign Het
Polb A G 8: 23,138,277 (GRCm39) probably benign Het
Polg2 C T 11: 106,659,293 (GRCm39) D407N probably damaging Het
Pou5f2 G A 13: 78,173,178 (GRCm39) R40Q probably benign Het
Sctr T C 1: 119,972,393 (GRCm39) M193T possibly damaging Het
Sctr T A 1: 119,949,909 (GRCm39) C33S probably damaging Het
Sema5b T C 16: 35,480,885 (GRCm39) S819P probably benign Het
Setd1b C T 5: 123,286,652 (GRCm39) T566I unknown Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Taf5l A G 8: 124,730,197 (GRCm39) V129A possibly damaging Het
Tmem163 C T 1: 127,427,984 (GRCm39) V201I probably benign Het
Ube3b T C 5: 114,544,310 (GRCm39) L569P probably damaging Het
Vwa3a A G 7: 120,372,515 (GRCm39) E301G probably benign Het
Wnk1 T C 6: 119,914,823 (GRCm39) I1660V probably benign Het
Zfp691 T C 4: 119,027,389 (GRCm39) D281G probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Zbtb22
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4515001:Zbtb22 UTSW 17 34,137,672 (GRCm39) missense probably benign 0.00
R0539:Zbtb22 UTSW 17 34,137,118 (GRCm39) missense possibly damaging 0.93
R0972:Zbtb22 UTSW 17 34,136,326 (GRCm39) missense possibly damaging 0.57
R2217:Zbtb22 UTSW 17 34,136,939 (GRCm39) missense probably damaging 1.00
R2218:Zbtb22 UTSW 17 34,136,939 (GRCm39) missense probably damaging 1.00
R2520:Zbtb22 UTSW 17 34,135,956 (GRCm39) missense probably damaging 1.00
R3806:Zbtb22 UTSW 17 34,135,920 (GRCm39) unclassified probably benign
R4086:Zbtb22 UTSW 17 34,137,142 (GRCm39) missense probably damaging 0.99
R5004:Zbtb22 UTSW 17 34,136,217 (GRCm39) missense probably benign 0.29
R5141:Zbtb22 UTSW 17 34,137,610 (GRCm39) missense possibly damaging 0.81
R5158:Zbtb22 UTSW 17 34,137,423 (GRCm39) missense probably damaging 0.97
R5677:Zbtb22 UTSW 17 34,136,709 (GRCm39) missense probably benign
R5804:Zbtb22 UTSW 17 34,137,593 (GRCm39) frame shift probably null
R6358:Zbtb22 UTSW 17 34,137,711 (GRCm39) missense probably damaging 1.00
R6495:Zbtb22 UTSW 17 34,136,224 (GRCm39) missense probably damaging 1.00
R6975:Zbtb22 UTSW 17 34,136,938 (GRCm39) missense probably damaging 1.00
R7561:Zbtb22 UTSW 17 34,136,952 (GRCm39) missense probably benign 0.01
R7658:Zbtb22 UTSW 17 34,137,471 (GRCm39) missense probably damaging 0.99
R7664:Zbtb22 UTSW 17 34,137,553 (GRCm39) missense probably benign 0.01
R8146:Zbtb22 UTSW 17 34,135,956 (GRCm39) missense probably damaging 0.99
R9687:Zbtb22 UTSW 17 34,136,850 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18