Incidental Mutation 'R3424:Zbtb17'
ID 267845
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 040642-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3424 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 141171984-141195248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 141192299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 415 (G415C)
Ref Sequence ENSEMBL: ENSMUSP00000006377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006377] [ENSMUST00000078886] [ENSMUST00000105786]
AlphaFold Q60821
Predicted Effect probably damaging
Transcript: ENSMUST00000006377
AA Change: G415C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: G415C

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 probably benign
Transcript: ENSMUST00000078886
SMART Domains Protein: ENSMUSP00000077925
Gene: ENSMUSG00000040761

DomainStartEndE-ValueType
RRM 7 77 7.77e-12 SMART
low complexity region 109 121 N/A INTRINSIC
low complexity region 235 257 N/A INTRINSIC
low complexity region 262 311 N/A INTRINSIC
RRM 338 411 8.6e-5 SMART
RRM 441 511 1.56e-16 SMART
RRM 520 587 1.84e-13 SMART
low complexity region 617 632 N/A INTRINSIC
low complexity region 669 691 N/A INTRINSIC
low complexity region 695 720 N/A INTRINSIC
low complexity region 749 773 N/A INTRINSIC
coiled coil region 800 825 N/A INTRINSIC
low complexity region 830 841 N/A INTRINSIC
internal_repeat_2 844 954 6.27e-5 PROSPERO
coiled coil region 1494 1522 N/A INTRINSIC
low complexity region 1587 1627 N/A INTRINSIC
low complexity region 1635 1641 N/A INTRINSIC
low complexity region 1642 1671 N/A INTRINSIC
low complexity region 1747 1758 N/A INTRINSIC
low complexity region 1810 1823 N/A INTRINSIC
low complexity region 1888 1903 N/A INTRINSIC
low complexity region 1940 1955 N/A INTRINSIC
low complexity region 2003 2012 N/A INTRINSIC
internal_repeat_2 2015 2115 6.27e-5 PROSPERO
low complexity region 2127 2147 N/A INTRINSIC
low complexity region 2169 2191 N/A INTRINSIC
low complexity region 2207 2219 N/A INTRINSIC
low complexity region 2304 2323 N/A INTRINSIC
low complexity region 2332 2371 N/A INTRINSIC
low complexity region 2396 2413 N/A INTRINSIC
low complexity region 2518 2533 N/A INTRINSIC
low complexity region 2545 2555 N/A INTRINSIC
low complexity region 2696 2722 N/A INTRINSIC
low complexity region 2931 2942 N/A INTRINSIC
low complexity region 2994 3006 N/A INTRINSIC
low complexity region 3192 3212 N/A INTRINSIC
low complexity region 3299 3337 N/A INTRINSIC
Pfam:SPOC 3465 3586 2.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105786
SMART Domains Protein: ENSMUSP00000101412
Gene: ENSMUSG00000040761

DomainStartEndE-ValueType
RRM 7 77 7.77e-12 SMART
low complexity region 109 121 N/A INTRINSIC
low complexity region 235 257 N/A INTRINSIC
low complexity region 262 311 N/A INTRINSIC
RRM 338 411 8.6e-5 SMART
RRM 441 511 1.56e-16 SMART
RRM 520 587 1.84e-13 SMART
low complexity region 692 714 N/A INTRINSIC
low complexity region 718 743 N/A INTRINSIC
low complexity region 772 796 N/A INTRINSIC
coiled coil region 823 848 N/A INTRINSIC
low complexity region 853 864 N/A INTRINSIC
internal_repeat_2 867 977 8.58e-5 PROSPERO
coiled coil region 1517 1545 N/A INTRINSIC
low complexity region 1610 1650 N/A INTRINSIC
low complexity region 1658 1664 N/A INTRINSIC
low complexity region 1665 1694 N/A INTRINSIC
low complexity region 1770 1781 N/A INTRINSIC
low complexity region 1833 1846 N/A INTRINSIC
low complexity region 1911 1926 N/A INTRINSIC
low complexity region 1963 1978 N/A INTRINSIC
low complexity region 2026 2035 N/A INTRINSIC
internal_repeat_2 2038 2138 8.58e-5 PROSPERO
low complexity region 2150 2170 N/A INTRINSIC
low complexity region 2192 2214 N/A INTRINSIC
low complexity region 2230 2242 N/A INTRINSIC
low complexity region 2327 2346 N/A INTRINSIC
low complexity region 2355 2394 N/A INTRINSIC
low complexity region 2419 2436 N/A INTRINSIC
low complexity region 2541 2556 N/A INTRINSIC
low complexity region 2568 2578 N/A INTRINSIC
low complexity region 2719 2745 N/A INTRINSIC
low complexity region 2954 2965 N/A INTRINSIC
low complexity region 3017 3029 N/A INTRINSIC
low complexity region 3215 3235 N/A INTRINSIC
low complexity region 3322 3360 N/A INTRINSIC
Pfam:SPOC 3488 3609 2.7e-29 PFAM
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: ENSMUST00000147227
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik G T 12: 31,234,632 (GRCm39) noncoding transcript Het
Atp8b3 T C 10: 80,372,181 (GRCm39) E16G probably benign Het
BC016579 T A 16: 45,449,846 (GRCm39) I191F probably damaging Het
Cdh23 T G 10: 60,212,660 (GRCm39) I1584L possibly damaging Het
Cep250 G A 2: 155,823,381 (GRCm39) D1011N probably benign Het
Coro2b A T 9: 62,336,590 (GRCm39) probably null Het
Csf3r A G 4: 125,937,549 (GRCm39) D811G probably damaging Het
Dst T G 1: 34,237,586 (GRCm39) probably benign Het
Gabrr1 T C 4: 33,158,058 (GRCm39) L227P probably damaging Het
Galnt10 T C 11: 57,536,539 (GRCm39) V52A probably benign Het
Golga4 A C 9: 118,363,715 (GRCm39) D229A probably benign Het
Heatr5b G A 17: 79,075,833 (GRCm39) T1495I possibly damaging Het
Hoxd4 A G 2: 74,557,657 (GRCm39) Y12C probably damaging Het
Hps1 A T 19: 42,748,952 (GRCm39) M522K possibly damaging Het
Lrrc8e A T 8: 4,284,611 (GRCm39) I279F probably damaging Het
Mettl24 C T 10: 40,559,637 (GRCm39) Q96* probably null Het
Muc2 A G 7: 141,279,595 (GRCm39) N193S probably damaging Het
Mysm1 A G 4: 94,853,558 (GRCm39) L347P probably benign Het
Or10g9 T A 9: 39,911,830 (GRCm39) E231V probably damaging Het
Oxtr G T 6: 112,454,191 (GRCm39) H24Q probably benign Het
Paxip1 A G 5: 27,980,671 (GRCm39) probably benign Het
Pclo C T 5: 14,730,432 (GRCm39) probably benign Het
Ros1 C A 10: 52,004,512 (GRCm39) probably null Het
Slc18b1 T G 10: 23,698,874 (GRCm39) M348R probably damaging Het
Slco4c1 A T 1: 96,768,976 (GRCm39) S295R probably benign Het
Tmeff2 A G 1: 51,018,776 (GRCm39) probably benign Het
Tspan31 T A 10: 126,904,371 (GRCm39) Q141L probably benign Het
Virma G T 4: 11,513,177 (GRCm39) E344* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CAGCCCGTTGAAACCCTATG -3'
(R):5'- TTCCTGATAGAAGCCCAGGTCC -3'

Sequencing Primer
(F):5'- CCCTATGGGTGTGAGGAGTG -3'
(R):5'- ACCATCCTAGGAGAGTCCCTGTC -3'
Posted On 2015-02-18