Incidental Mutation 'IGL02388:Zbtb17'
ID 291633
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb17
Ensembl Gene ENSMUSG00000006215
Gene Name zinc finger and BTB domain containing 17
Synonyms mZ13, Zfp100, Miz1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02388
Quality Score
Status
Chromosome 4
Chromosomal Location 141171984-141195248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141189224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 48 (Y48C)
Ref Sequence ENSEMBL: ENSMUSP00000006377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006377]
AlphaFold Q60821
Predicted Effect probably damaging
Transcript: ENSMUST00000006377
AA Change: Y48C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: Y48C

DomainStartEndE-ValueType
BTB 24 116 1.38e-27 SMART
low complexity region 203 222 N/A INTRINSIC
ZnF_C2H2 297 319 6.42e-4 SMART
ZnF_C2H2 325 347 3.11e-2 SMART
ZnF_C2H2 353 375 2.49e-1 SMART
ZnF_C2H2 381 403 8.47e-4 SMART
ZnF_C2H2 409 431 8.47e-4 SMART
ZnF_C2H2 437 459 1.22e-4 SMART
ZnF_C2H2 465 487 4.94e-5 SMART
ZnF_C2H2 493 515 3.26e-5 SMART
ZnF_C2H2 521 543 7.26e-3 SMART
ZnF_C2H2 549 571 4.79e-3 SMART
ZnF_C2H2 577 599 1.58e-3 SMART
ZnF_C2H2 605 628 2.57e-3 SMART
low complexity region 654 674 N/A INTRINSIC
ZnF_C2H2 708 730 4.4e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144899
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryonic development of homozygous null mice is severely impaired and death occurs prior to E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930597O21Rik A T 6: 66,873,097 (GRCm39) probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Asphd1 A T 7: 126,545,884 (GRCm39) probably benign Het
Ccdc77 G A 6: 120,308,858 (GRCm39) A301V probably benign Het
Cep350 G T 1: 155,829,499 (GRCm39) T135K probably benign Het
Chrna7 A T 7: 62,757,439 (GRCm39) D153E probably damaging Het
Clec4b2 G T 6: 123,179,187 (GRCm39) probably null Het
Cyp2c67 T C 19: 39,631,799 (GRCm39) N133D probably benign Het
Dglucy T C 12: 100,823,257 (GRCm39) I484T probably damaging Het
Dtna G T 18: 23,730,571 (GRCm39) M319I probably benign Het
E2f5 T A 3: 14,653,340 (GRCm39) M152K probably benign Het
Emsy A T 7: 98,290,873 (GRCm39) M58K probably damaging Het
Epha1 A G 6: 42,341,950 (GRCm39) Y367H probably damaging Het
Etv1 A G 12: 38,831,798 (GRCm39) S32G possibly damaging Het
Fam114a1 A T 5: 65,166,323 (GRCm39) probably benign Het
Fbxo30 T A 10: 11,166,122 (GRCm39) N281K probably benign Het
Galnt12 G T 4: 47,117,941 (GRCm39) R412L probably damaging Het
Gm5786 T A 12: 59,128,382 (GRCm39) noncoding transcript Het
Gm9845 T C 3: 39,412,616 (GRCm39) noncoding transcript Het
Hecw2 A G 1: 53,964,858 (GRCm39) V656A probably benign Het
Hpse2 A T 19: 43,282,692 (GRCm39) V187D probably damaging Het
Itsn2 T A 12: 4,679,557 (GRCm39) M122K possibly damaging Het
Kcnj11 A G 7: 45,749,213 (GRCm39) S37P probably benign Het
Kif13b T C 14: 65,037,807 (GRCm39) I1491T probably damaging Het
Krt36 T A 11: 99,995,990 (GRCm39) K145* probably null Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mical2 C A 7: 111,934,620 (GRCm39) H880N probably benign Het
Myo1d A T 11: 80,528,823 (GRCm39) C666* probably null Het
Nlrx1 C T 9: 44,175,302 (GRCm39) R158H probably benign Het
Or10ag53 T A 2: 87,082,295 (GRCm39) Y5N probably benign Het
Or10q1 C A 19: 13,726,994 (GRCm39) H175N possibly damaging Het
Or13a17 A G 7: 140,271,024 (GRCm39) T69A probably benign Het
Or1e21 A T 11: 73,344,106 (GRCm39) L311I probably benign Het
Or4a78 T C 2: 89,497,316 (GRCm39) S305G probably benign Het
Pdgfrl A G 8: 41,430,094 (GRCm39) R154G probably benign Het
Pitpnb T C 5: 111,478,699 (GRCm39) F7S possibly damaging Het
Ppm1n G A 7: 19,013,097 (GRCm39) R285C probably damaging Het
Prdm11 A T 2: 92,805,957 (GRCm39) I331N possibly damaging Het
Ptprb C T 10: 116,203,426 (GRCm39) P2066L probably damaging Het
Ric8b T C 10: 84,828,135 (GRCm39) probably benign Het
Setx A G 2: 29,063,665 (GRCm39) I2320M probably damaging Het
Skil C A 3: 31,165,787 (GRCm39) S368* probably null Het
Slc1a5 G T 7: 16,519,644 (GRCm39) probably null Het
Trpm7 A C 2: 126,661,811 (GRCm39) V1079G possibly damaging Het
Tulp1 A G 17: 28,577,633 (GRCm39) F2L probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Zfp605 T A 5: 110,275,506 (GRCm39) I208N possibly damaging Het
Other mutations in Zbtb17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Zbtb17 APN 4 141,193,678 (GRCm39) nonsense probably null
IGL01449:Zbtb17 APN 4 141,190,616 (GRCm39) missense probably benign
IGL01835:Zbtb17 APN 4 141,192,749 (GRCm39) critical splice donor site probably null
IGL02141:Zbtb17 APN 4 141,192,264 (GRCm39) missense probably damaging 1.00
IGL02142:Zbtb17 APN 4 141,192,293 (GRCm39) missense probably benign 0.29
IGL02167:Zbtb17 APN 4 141,189,140 (GRCm39) missense possibly damaging 0.94
IGL02600:Zbtb17 APN 4 141,194,196 (GRCm39) missense possibly damaging 0.50
IGL02617:Zbtb17 APN 4 141,192,399 (GRCm39) missense probably damaging 0.97
IGL03290:Zbtb17 APN 4 141,194,244 (GRCm39) missense probably damaging 1.00
IGL03391:Zbtb17 APN 4 141,194,069 (GRCm39) missense probably damaging 1.00
IGL02799:Zbtb17 UTSW 4 141,190,691 (GRCm39) missense probably benign 0.20
R0698:Zbtb17 UTSW 4 141,193,407 (GRCm39) splice site probably null
R0736:Zbtb17 UTSW 4 141,189,097 (GRCm39) missense probably damaging 1.00
R1924:Zbtb17 UTSW 4 141,191,914 (GRCm39) missense probably damaging 1.00
R1940:Zbtb17 UTSW 4 141,192,859 (GRCm39) missense possibly damaging 0.83
R2164:Zbtb17 UTSW 4 141,191,557 (GRCm39) missense probably benign
R2517:Zbtb17 UTSW 4 141,191,896 (GRCm39) missense probably damaging 1.00
R3424:Zbtb17 UTSW 4 141,192,299 (GRCm39) missense probably damaging 0.99
R3884:Zbtb17 UTSW 4 141,191,886 (GRCm39) missense probably damaging 1.00
R4609:Zbtb17 UTSW 4 141,193,809 (GRCm39) missense probably damaging 1.00
R5055:Zbtb17 UTSW 4 141,193,860 (GRCm39) missense possibly damaging 0.68
R5327:Zbtb17 UTSW 4 141,192,942 (GRCm39) missense probably benign 0.22
R5363:Zbtb17 UTSW 4 141,194,072 (GRCm39) missense probably benign 0.02
R5987:Zbtb17 UTSW 4 141,192,128 (GRCm39) missense possibly damaging 0.94
R6038:Zbtb17 UTSW 4 141,191,752 (GRCm39) missense probably benign 0.05
R6038:Zbtb17 UTSW 4 141,191,752 (GRCm39) missense probably benign 0.05
R6311:Zbtb17 UTSW 4 141,190,694 (GRCm39) missense probably benign 0.00
R6320:Zbtb17 UTSW 4 141,190,694 (GRCm39) missense probably benign 0.00
R6321:Zbtb17 UTSW 4 141,190,694 (GRCm39) missense probably benign 0.00
R6322:Zbtb17 UTSW 4 141,190,694 (GRCm39) missense probably benign 0.00
R6337:Zbtb17 UTSW 4 141,190,694 (GRCm39) missense probably benign 0.00
R6365:Zbtb17 UTSW 4 141,190,694 (GRCm39) missense probably benign 0.00
R6492:Zbtb17 UTSW 4 141,190,694 (GRCm39) missense probably benign 0.00
R6605:Zbtb17 UTSW 4 141,192,261 (GRCm39) missense probably damaging 0.99
R6695:Zbtb17 UTSW 4 141,189,110 (GRCm39) missense probably damaging 1.00
R7717:Zbtb17 UTSW 4 141,193,394 (GRCm39) missense probably damaging 1.00
R7999:Zbtb17 UTSW 4 141,189,134 (GRCm39) missense probably damaging 1.00
R8542:Zbtb17 UTSW 4 141,194,139 (GRCm39) unclassified probably benign
R8544:Zbtb17 UTSW 4 141,194,139 (GRCm39) unclassified probably benign
R8545:Zbtb17 UTSW 4 141,194,139 (GRCm39) unclassified probably benign
R8836:Zbtb17 UTSW 4 141,189,233 (GRCm39) missense possibly damaging 0.68
R9072:Zbtb17 UTSW 4 141,193,676 (GRCm39) missense possibly damaging 0.50
R9073:Zbtb17 UTSW 4 141,193,676 (GRCm39) missense possibly damaging 0.50
R9389:Zbtb17 UTSW 4 141,193,131 (GRCm39) missense possibly damaging 0.89
R9785:Zbtb17 UTSW 4 141,194,271 (GRCm39) missense possibly damaging 0.64
Z1176:Zbtb17 UTSW 4 141,190,990 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16