Incidental Mutation 'IGL02141:Zbtb17'
ID 281545
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 # IGL02141
Quality Score
Status
Chromosome 4
Chromosomal Location 141171984-141195248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141192264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 403 (H403R)
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: H403R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: H403R

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: ENSMUST00000147227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142695
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A 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
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
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