Incidental Mutation 'R1924:Zbtb17'
ID 213264
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 039942-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1924 (G1)
Quality Score 195
Status Validated
Chromosome 4
Chromosomal Location 141171984-141195248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141191914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 315 (H315R)
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: H315R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: H315R

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: ENSMUST00000147227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142438
Meta Mutation Damage Score 0.9529 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 94% (63/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G A 5: 114,368,781 (GRCm39) M1666I possibly damaging Het
Adamts13 A T 2: 26,874,153 (GRCm39) Q434L probably damaging Het
Adgrg3 G A 8: 95,762,562 (GRCm39) R204H probably benign Het
Arhgef28 A C 13: 98,073,324 (GRCm39) probably benign Het
AU041133 T A 10: 81,987,101 (GRCm39) C251* probably null Het
Axin2 T A 11: 108,833,794 (GRCm39) N580K probably benign Het
C4b A G 17: 34,948,631 (GRCm39) C1560R probably damaging Het
Cacna1g A G 11: 94,334,880 (GRCm39) I809T possibly damaging Het
Cacna1s C A 1: 136,016,755 (GRCm39) probably null Het
Cadps2 T C 6: 23,688,857 (GRCm39) S151G probably damaging Het
Capn1 T C 19: 6,040,086 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Ccdc73 A G 2: 104,822,637 (GRCm39) D862G probably damaging Het
Cdk17 T C 10: 93,061,979 (GRCm39) L237P probably damaging Het
Cfap251 A G 5: 123,440,802 (GRCm39) I1120V possibly damaging Het
Chad A C 11: 94,456,384 (GRCm39) N154T possibly damaging Het
Cog1 C T 11: 113,547,038 (GRCm39) T544I probably benign Het
Cracd A T 5: 77,006,470 (GRCm39) T944S unknown Het
Ctnna2 T C 6: 76,931,830 (GRCm39) E590G possibly damaging Het
Dapk2 T A 9: 66,072,642 (GRCm39) M6K probably benign Het
Dchs1 T C 7: 105,421,487 (GRCm39) E311G possibly damaging Het
Ddr2 T A 1: 169,809,641 (GRCm39) T779S probably benign Het
Dhtkd1 A G 2: 5,916,744 (GRCm39) V644A probably damaging Het
Dock2 A G 11: 34,414,934 (GRCm39) V147A possibly damaging Het
Ear10 A T 14: 44,160,357 (GRCm39) *157K probably null Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Gmps T G 3: 63,906,049 (GRCm39) C449G probably damaging Het
Grin3a A G 4: 49,844,988 (GRCm39) S32P possibly damaging Het
Igkv1-115 A T 6: 68,138,592 (GRCm39) D65V probably damaging Het
Klk1b4 A G 7: 43,859,105 (GRCm39) N41S probably benign Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,145,262 (GRCm39) D25E probably damaging Het
Muc5b A G 7: 141,421,960 (GRCm39) R4426G possibly damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myo5a G T 9: 75,023,489 (GRCm39) D17Y probably damaging Het
Nat1 C G 8: 67,944,076 (GRCm39) L154V probably benign Het
Nek3 T A 8: 22,647,047 (GRCm39) T163S probably damaging Het
Or2w25 G T 11: 59,503,949 (GRCm39) R53L possibly damaging Het
Or5p80 A G 7: 108,229,562 (GRCm39) D121G probably damaging Het
Or6c204 A G 10: 129,023,044 (GRCm39) I82T possibly damaging Het
Or8d2b T A 9: 38,789,147 (GRCm39) I225N probably damaging Het
Or8g32 A T 9: 39,305,163 (GRCm39) E22D possibly damaging Het
Or9s13 T C 1: 92,548,525 (GRCm39) L299P probably damaging Het
Osr1 T G 12: 9,629,268 (GRCm39) L47R probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pik3ap1 T A 19: 41,291,053 (GRCm39) N493I possibly damaging Het
Polr3e T A 7: 120,539,820 (GRCm39) N522K probably damaging Het
Rabgap1 T A 2: 37,385,771 (GRCm39) probably null Het
Rp1l1 C A 14: 64,268,992 (GRCm39) A1526E probably benign Het
Scn3a T A 2: 65,291,878 (GRCm39) I1623F probably damaging Het
Serpinb9e A G 13: 33,437,428 (GRCm39) T104A probably benign Het
Sh3rf3 T C 10: 58,939,989 (GRCm39) probably benign Het
Slc30a3 A G 5: 31,245,748 (GRCm39) Y213H probably damaging Het
Sptbn4 C T 7: 27,106,563 (GRCm39) R955H probably damaging Het
Tfb1m A T 17: 3,569,946 (GRCm39) Y307N probably damaging Het
Tnrc6b G T 15: 80,768,407 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ulk1 A G 5: 110,938,936 (GRCm39) Y501H probably damaging Het
Zeb2 A G 2: 44,892,624 (GRCm39) Y142H probably damaging Het
Zfr T C 15: 12,160,715 (GRCm39) S763P 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
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
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
Predicted Primers PCR Primer
(F):5'- CACTGAGTCCAAGGCTTACG -3'
(R):5'- TATGCAGGTTCAGCAGGCTG -3'

Sequencing Primer
(F):5'- AAGGCTTACGGCTCCATCATC -3'
(R):5'- CCATAGGGTTTCAACGGGCTG -3'
Posted On 2014-07-14