Incidental Mutation 'R6695:Zbtb17'
ID 528530
Institutional Source Beutler Lab
Gene Symbol Zbtb17
Ensembl Gene ENSMUSG00000006215
Gene Name zinc finger and BTB domain containing 17
Synonyms mZ13, Zfp100, Miz1
MMRRC Submission 044813-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6695 (G1)
Quality Score 102.008
Status Validated
Chromosome 4
Chromosomal Location 141171984-141195248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141189110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 10 (V10D)
Ref Sequence ENSEMBL: ENSMUSP00000006377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006377]
AlphaFold Q60821
Predicted Effect probably damaging
Transcript: ENSMUST00000006377
AA Change: V10D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: V10D

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
Meta Mutation Damage Score 0.6135 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,497 (GRCm39) L179H probably benign Het
Cacna1h C A 17: 25,612,714 (GRCm39) A370S probably damaging Het
Cc2d2a A T 5: 43,876,019 (GRCm39) I1053F probably damaging Het
Csmd3 A G 15: 47,721,230 (GRCm39) V1467A probably damaging Het
Cyp4f15 T A 17: 32,911,586 (GRCm39) L156* probably null Het
Dmwd T A 7: 18,814,652 (GRCm39) L434Q probably damaging Het
Dtx4 T A 19: 12,450,599 (GRCm39) R538* probably null Het
Fcgbp T A 7: 27,785,695 (GRCm39) C377* probably null Het
Galntl6 G T 8: 58,880,804 (GRCm39) H116Q probably damaging Het
Herc1 T A 9: 66,391,148 (GRCm39) probably null Het
Hydin T G 8: 111,053,092 (GRCm39) S255A probably benign Het
Knstrn G A 2: 118,644,723 (GRCm39) A48T probably damaging Het
Lonrf2 T C 1: 38,852,470 (GRCm39) D127G probably benign Het
Luzp1 T C 4: 136,272,609 (GRCm39) S12P possibly damaging Het
Man2c1 A T 9: 57,048,875 (GRCm39) H822L probably benign Het
Map3k13 G T 16: 21,741,028 (GRCm39) G785V probably benign Het
Mia2 A G 12: 59,219,366 (GRCm39) H454R probably damaging Het
Mib2 G A 4: 155,745,629 (GRCm39) R61C probably damaging Het
Muc15 A T 2: 110,561,616 (GRCm39) L17F probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nav2 A G 7: 49,114,652 (GRCm39) I879V probably benign Het
Nomo1 T A 7: 45,715,885 (GRCm39) S751T probably benign Het
Or1j10 A T 2: 36,267,117 (GRCm39) S110C probably benign Het
Or5b24 A T 19: 12,912,764 (GRCm39) I221L possibly damaging Het
Or5g27 A G 2: 85,409,793 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,256 (GRCm39) N412S probably benign Het
Plk5 T C 10: 80,196,035 (GRCm39) S235P probably benign Het
Ppm1j A G 3: 104,692,802 (GRCm39) D437G probably damaging Het
Rab11fip1 T C 8: 27,633,262 (GRCm39) E1148G probably damaging Het
Rad9b T C 5: 122,489,754 (GRCm39) N43S probably damaging Het
Rc3h2 A C 2: 37,304,673 (GRCm39) I29S possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Spdl1 T A 11: 34,713,830 (GRCm39) probably null Het
Spta1 A T 1: 174,071,608 (GRCm39) probably null Het
Stk32c A T 7: 138,702,880 (GRCm39) V53E probably damaging Het
Strc A T 2: 121,207,705 (GRCm39) F555L probably benign Het
Sugct T G 13: 17,497,815 (GRCm39) N286T possibly damaging Het
Swsap1 A T 9: 21,867,971 (GRCm39) probably null Het
Thbs2 T A 17: 14,894,426 (GRCm39) D807V possibly damaging Het
Tnrc6b A G 15: 80,763,974 (GRCm39) D492G probably damaging Het
Tonsl A T 15: 76,514,018 (GRCm39) S1184T possibly damaging Het
Tpp2 T A 1: 44,022,436 (GRCm39) Y945N probably benign Het
Usp54 G T 14: 20,610,937 (GRCm39) A1293D possibly damaging Het
Vps52 A T 17: 34,182,173 (GRCm39) K516* probably null Het
Zfp607b T C 7: 27,403,464 (GRCm39) V640A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGCTTTGGGAATGACTGGGC -3'
(R):5'- CTGCCGCATTACTGATGTCTAGG -3'

Sequencing Primer
(F):5'- AAGTGTCTGGAGTCATCTGCCC -3'
(R):5'- ATTACTGATGTCTAGGTGCACCACG -3'
Posted On 2018-07-24