Incidental Mutation 'R7066:Mzf1'
ID 548566
Institutional Source Beutler Lab
Gene Symbol Mzf1
Ensembl Gene ENSMUSG00000030380
Gene Name myeloid zinc finger 1
Synonyms Zfp98, Zfp121, Znf42, Mzf2
MMRRC Submission 045162-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R7066 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 12776230-12788691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12777490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 638 (V638E)
Ref Sequence ENSEMBL: ENSMUSP00000138387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069289] [ENSMUST00000182087] [ENSMUST00000182490] [ENSMUST00000182515]
AlphaFold S4R1L6
Predicted Effect probably benign
Transcript: ENSMUST00000069289
SMART Domains Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
SCAN 41 153 1.18e-70 SMART
ZnF_C2H2 357 379 4.87e-4 SMART
ZnF_C2H2 385 407 1.95e-3 SMART
ZnF_C2H2 413 435 1.18e-2 SMART
ZnF_C2H2 441 463 8.6e-5 SMART
ZnF_C2H2 486 508 1.79e-2 SMART
ZnF_C2H2 514 536 7.15e-2 SMART
ZnF_C2H2 542 564 8.47e-4 SMART
ZnF_C2H2 570 592 2.79e-4 SMART
ZnF_C2H2 598 620 1.6e-4 SMART
ZnF_C2H2 626 648 1.67e-2 SMART
ZnF_C2H2 654 676 3.44e-4 SMART
ZnF_C2H2 682 704 2.84e-5 SMART
ZnF_C2H2 710 732 2.4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182087
SMART Domains Protein: ENSMUSP00000138163
Gene: ENSMUSG00000030380

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
SCAN 41 152 9.06e-58 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182490
AA Change: V717E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138271
Gene: ENSMUSG00000030380
AA Change: V717E

DomainStartEndE-ValueType
low complexity region 103 113 N/A INTRINSIC
SCAN 120 232 1.18e-70 SMART
ZnF_C2H2 436 458 4.87e-4 SMART
ZnF_C2H2 464 486 1.95e-3 SMART
ZnF_C2H2 492 514 1.18e-2 SMART
ZnF_C2H2 520 542 8.6e-5 SMART
ZnF_C2H2 565 587 1.79e-2 SMART
ZnF_C2H2 593 615 7.15e-2 SMART
ZnF_C2H2 621 643 8.47e-4 SMART
ZnF_C2H2 649 671 2.79e-4 SMART
ZnF_C2H2 677 699 1.6e-4 SMART
ZnF_C2H2 705 727 1.67e-2 SMART
ZnF_C2H2 733 755 3.44e-4 SMART
ZnF_C2H2 761 783 2.84e-5 SMART
ZnF_C2H2 789 811 2.4e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182515
AA Change: V638E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380
AA Change: V638E

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
SCAN 41 153 1.18e-70 SMART
ZnF_C2H2 357 379 4.87e-4 SMART
ZnF_C2H2 385 407 1.95e-3 SMART
ZnF_C2H2 413 435 1.18e-2 SMART
ZnF_C2H2 441 463 8.6e-5 SMART
ZnF_C2H2 486 508 1.79e-2 SMART
ZnF_C2H2 514 536 7.15e-2 SMART
ZnF_C2H2 542 564 8.47e-4 SMART
ZnF_C2H2 570 592 2.79e-4 SMART
ZnF_C2H2 598 620 1.6e-4 SMART
ZnF_C2H2 626 648 1.67e-2 SMART
ZnF_C2H2 654 676 3.44e-4 SMART
ZnF_C2H2 682 704 2.84e-5 SMART
ZnF_C2H2 710 732 2.4e-3 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (52/53)
MGI Phenotype PHENOTYPE: Homozygous mutants are prone to late-onset (>2 yr) neoplasias characterized by infiltration, enlargement and disruption of the liver by monomorphic cells of myeloid origin; hemopoietic progenitors show increased ability to sustain long-term hemopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,904,514 (GRCm39) V175A probably damaging Het
Adamts5 A T 16: 85,659,652 (GRCm39) V880E probably damaging Het
Adgrf1 T A 17: 43,621,151 (GRCm39) F463I probably benign Het
Ano1 T A 7: 144,190,823 (GRCm39) E249D probably benign Het
Aoc1 A G 6: 48,885,553 (GRCm39) D686G probably damaging Het
Cacna1d A T 14: 30,074,935 (GRCm39) probably benign Het
Cdc42ep4 A G 11: 113,620,044 (GRCm39) S116P probably damaging Het
Ces2a T C 8: 105,466,880 (GRCm39) V463A probably damaging Het
Depdc5 A G 5: 33,059,192 (GRCm39) D297G probably benign Het
Fsip2 T A 2: 82,821,235 (GRCm39) V5656E possibly damaging Het
Gbp5 A G 3: 142,213,490 (GRCm39) T469A probably benign Het
Gm21663 C G 5: 26,146,259 (GRCm39) probably null Het
Iqch A G 9: 63,432,027 (GRCm39) V456A probably benign Het
Lpcat1 A C 13: 73,659,500 (GRCm39) I373L probably benign Het
Morc2b C T 17: 33,355,610 (GRCm39) V721I probably benign Het
Mrgprb1 C T 7: 48,097,424 (GRCm39) V163M probably benign Het
Mtfr2 A G 10: 20,229,972 (GRCm39) I142V possibly damaging Het
Muc16 A T 9: 18,569,317 (GRCm39) S1067R unknown Het
Myh14 T C 7: 44,280,179 (GRCm39) S892G possibly damaging Het
Mylk2 C T 2: 152,753,588 (GRCm39) probably null Het
Ncoa1 C T 12: 4,372,934 (GRCm39) V156I possibly damaging Het
Nf1 A G 11: 79,447,546 (GRCm39) E2450G probably damaging Het
Or14j3 T A 17: 37,901,034 (GRCm39) D70V probably damaging Het
Or1e29 A G 11: 73,668,018 (GRCm39) I45T probably damaging Het
Or4a72 T C 2: 89,406,047 (GRCm39) T8A probably damaging Het
Or4f60 G A 2: 111,902,541 (GRCm39) P129L probably damaging Het
Or5t7 T A 2: 86,507,570 (GRCm39) T36S possibly damaging Het
Or6c88 T C 10: 129,407,373 (GRCm39) L283S probably damaging Het
Or8g54 A G 9: 39,707,420 (GRCm39) I250V probably benign Het
Or8k17 T C 2: 86,067,002 (GRCm39) D52G probably damaging Het
P4htm T G 9: 108,474,162 (GRCm39) K125N probably damaging Het
Patj A G 4: 98,301,434 (GRCm39) T240A probably benign Het
Pcolce2 T C 9: 95,563,674 (GRCm39) V220A probably benign Het
Pcyox1 A T 6: 86,371,478 (GRCm39) I136N probably damaging Het
Pde4b A G 4: 102,460,003 (GRCm39) S395G probably benign Het
Peg3 C A 7: 6,711,856 (GRCm39) R1122L probably damaging Het
Plekhm1 A G 11: 103,261,814 (GRCm39) V922A possibly damaging Het
Rad51c T C 11: 87,293,502 (GRCm39) N118S possibly damaging Het
Rb1cc1 T A 1: 6,320,229 (GRCm39) V1216D possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rlf T C 4: 121,005,984 (GRCm39) M999V probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,125 (GRCm39) probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Sema5b A C 16: 35,471,682 (GRCm39) D425A probably benign Het
Siglecg A G 7: 43,061,166 (GRCm39) E413G probably benign Het
Tcaf1 A T 6: 42,656,111 (GRCm39) N288K probably damaging Het
Tdp1 A G 12: 99,860,991 (GRCm39) D210G probably benign Het
Umps A T 16: 33,782,103 (GRCm39) L273* probably null Het
Vcan A T 13: 89,853,805 (GRCm39) V385D probably damaging Het
Wdr59 T C 8: 112,192,477 (GRCm39) T676A probably benign Het
Zdbf2 A G 1: 63,346,718 (GRCm39) H1699R probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) probably benign Het
Other mutations in Mzf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Mzf1 APN 7 12,778,543 (GRCm39) missense possibly damaging 0.85
IGL01728:Mzf1 APN 7 12,785,654 (GRCm39) splice site probably benign
IGL02194:Mzf1 APN 7 12,777,647 (GRCm39) missense possibly damaging 0.53
IGL02256:Mzf1 APN 7 12,786,664 (GRCm39) splice site probably benign
IGL02584:Mzf1 APN 7 12,786,744 (GRCm39) missense probably damaging 0.98
IGL02678:Mzf1 APN 7 12,786,836 (GRCm39) missense probably benign 0.00
R0903:Mzf1 UTSW 7 12,786,698 (GRCm39) missense possibly damaging 0.82
R0904:Mzf1 UTSW 7 12,786,698 (GRCm39) missense possibly damaging 0.82
R0905:Mzf1 UTSW 7 12,786,698 (GRCm39) missense possibly damaging 0.82
R1128:Mzf1 UTSW 7 12,786,698 (GRCm39) missense possibly damaging 0.82
R1131:Mzf1 UTSW 7 12,786,698 (GRCm39) missense possibly damaging 0.82
R1280:Mzf1 UTSW 7 12,787,010 (GRCm39) missense probably damaging 0.96
R1400:Mzf1 UTSW 7 12,786,698 (GRCm39) missense possibly damaging 0.82
R1640:Mzf1 UTSW 7 12,777,197 (GRCm39) makesense probably null
R1687:Mzf1 UTSW 7 12,786,698 (GRCm39) missense possibly damaging 0.82
R4014:Mzf1 UTSW 7 12,777,883 (GRCm39) missense possibly damaging 0.47
R4721:Mzf1 UTSW 7 12,777,448 (GRCm39) missense possibly damaging 0.53
R4721:Mzf1 UTSW 7 12,777,223 (GRCm39) missense possibly damaging 0.52
R5511:Mzf1 UTSW 7 12,785,526 (GRCm39) missense possibly damaging 0.95
R5611:Mzf1 UTSW 7 12,778,554 (GRCm39) utr 3 prime probably benign
R5728:Mzf1 UTSW 7 12,777,985 (GRCm39) missense probably benign 0.00
R5868:Mzf1 UTSW 7 12,787,116 (GRCm39) missense probably benign 0.00
R6283:Mzf1 UTSW 7 12,787,296 (GRCm39) intron probably benign
R7059:Mzf1 UTSW 7 12,786,985 (GRCm39) missense probably damaging 0.96
R7763:Mzf1 UTSW 7 12,778,018 (GRCm39) missense probably damaging 1.00
R8157:Mzf1 UTSW 7 12,778,279 (GRCm39) missense probably damaging 1.00
R8870:Mzf1 UTSW 7 12,786,836 (GRCm39) missense probably benign 0.00
R9063:Mzf1 UTSW 7 12,787,005 (GRCm39) missense probably damaging 1.00
R9113:Mzf1 UTSW 7 12,778,279 (GRCm39) missense probably damaging 1.00
R9252:Mzf1 UTSW 7 12,777,647 (GRCm39) missense probably benign 0.33
R9289:Mzf1 UTSW 7 12,785,534 (GRCm39) missense probably benign 0.02
R9792:Mzf1 UTSW 7 12,786,131 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TACTCAGTGCTGTGGACACG -3'
(R):5'- AATGTGGCAAGACCTTCCG -3'

Sequencing Primer
(F):5'- TTGAAGCGTCGGCCACAG -3'
(R):5'- AAGACCTTCCGCCAGCG -3'
Posted On 2019-05-13