Incidental Mutation 'IGL02167:Zbtb17'
ID 282751
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 # IGL02167
Quality Score
Status
Chromosome 4
Chromosomal Location 141171984-141195248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141189140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 20 (L20P)
Ref Sequence ENSEMBL: ENSMUSP00000006377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006377]
AlphaFold Q60821
Predicted Effect possibly damaging
Transcript: ENSMUST00000006377
AA Change: L20P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: L20P

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,721 (GRCm39) probably benign Het
Cacna1f T C X: 7,482,258 (GRCm39) Y581H probably damaging Het
Camsap1 C T 2: 25,824,312 (GRCm39) R1416H probably damaging Het
Ccdc117 T C 11: 5,481,333 (GRCm39) E266G possibly damaging Het
Ccdc9 A T 7: 16,018,284 (GRCm39) L8* probably null Het
Cited2 T C 10: 17,600,018 (GRCm39) S109P probably benign Het
Cnot4 T C 6: 35,033,159 (GRCm39) D286G possibly damaging Het
Col5a1 T C 2: 27,908,568 (GRCm39) I52T probably benign Het
Cry2 T C 2: 92,264,166 (GRCm39) N68S possibly damaging Het
Cul4a T C 8: 13,172,826 (GRCm39) F153S probably damaging Het
Ddr1 T C 17: 36,000,963 (GRCm39) S261G possibly damaging Het
Depdc5 G A 5: 33,061,145 (GRCm39) R324Q probably damaging Het
Dmgdh A G 13: 93,857,135 (GRCm39) probably benign Het
Epha8 A T 4: 136,658,405 (GRCm39) M990K probably damaging Het
Gpr137c G T 14: 45,517,412 (GRCm39) G383C probably damaging Het
Hydin T A 8: 111,145,055 (GRCm39) I802N possibly damaging Het
Ifne A G 4: 88,798,065 (GRCm39) Y118H possibly damaging Het
Kansl2 T C 15: 98,431,396 (GRCm39) probably benign Het
Lig4 T A 8: 10,021,821 (GRCm39) N653I probably benign Het
Nagk A G 6: 83,778,088 (GRCm39) D246G probably damaging Het
Nav1 A G 1: 135,398,699 (GRCm39) S628P probably damaging Het
Ncoa3 A G 2: 165,912,056 (GRCm39) Y1401C probably damaging Het
Ndufa9 A G 6: 126,821,748 (GRCm39) probably benign Het
Nynrin G T 14: 56,100,792 (GRCm39) R194L probably damaging Het
Or10a4 A T 7: 106,696,868 (GRCm39) R65S probably benign Het
Or10ag53 G A 2: 87,082,542 (GRCm39) C87Y probably benign Het
Or13a17 T A 7: 140,271,664 (GRCm39) V282D probably damaging Het
Orc2 A T 1: 58,522,798 (GRCm39) probably benign Het
Oxgr1 T A 14: 120,259,342 (GRCm39) R288S probably damaging Het
Pgap6 T C 17: 26,338,045 (GRCm39) S450P probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prox1 T C 1: 189,893,477 (GRCm39) N323D probably benign Het
Prrt1 A C 17: 34,850,829 (GRCm39) E215A possibly damaging Het
Rab2b T C 14: 52,506,153 (GRCm39) D103G probably damaging Het
Sardh G T 2: 27,081,987 (GRCm39) N846K probably damaging Het
Slc38a8 T A 8: 120,214,099 (GRCm39) T248S probably benign Het
Slc6a18 T C 13: 73,814,591 (GRCm39) probably null Het
Smcp T C 3: 92,491,506 (GRCm39) T114A unknown Het
Trpv1 A G 11: 73,145,623 (GRCm39) N754D probably damaging Het
Txnrd1 A T 10: 82,717,745 (GRCm39) H243L probably benign Het
Wdfy3 T C 5: 102,109,023 (GRCm39) M125V probably damaging Het
Wnk2 T C 13: 49,224,601 (GRCm39) probably null Het
Wrn T C 8: 33,807,583 (GRCm39) M292V probably damaging Het
Zfp608 T C 18: 55,121,296 (GRCm39) H97R probably damaging Het
Zfp68 T A 5: 138,604,629 (GRCm39) M565L probably benign Het
Zfp687 T C 3: 94,917,841 (GRCm39) T644A probably benign Het
Zfp777 C T 6: 48,021,460 (GRCm39) G54D probably 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
IGL02388:Zbtb17 APN 4 141,189,224 (GRCm39) missense probably damaging 1.00
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