Incidental Mutation 'R0594:Zfp407'
ID 56178
Institutional Source Beutler Lab
Gene Symbol Zfp407
Ensembl Gene ENSMUSG00000048410
Gene Name zinc finger protein 407
Synonyms LOC381139, 6430585N13Rik, LOC240469
MMRRC Submission 038784-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0594 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 84225826-84612815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84580692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 140 (D140E)
Ref Sequence ENSEMBL: ENSMUSP00000118361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125763]
AlphaFold G3UVV3
Predicted Effect probably benign
Transcript: ENSMUST00000125450
Predicted Effect possibly damaging
Transcript: ENSMUST00000125763
AA Change: D140E

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: D140E

DomainStartEndE-ValueType
low complexity region 20 37 N/A INTRINSIC
ZnF_C2H2 178 200 8.67e-1 SMART
ZnF_U1 233 267 6.79e-1 SMART
ZnF_C2H2 236 260 4.65e-1 SMART
ZnF_C2H2 522 545 7.05e-1 SMART
ZnF_U1 548 582 1.54e1 SMART
ZnF_C2H2 551 575 1.01e-1 SMART
ZnF_C2H2 582 605 1.41e0 SMART
ZnF_U1 606 639 2.22e0 SMART
ZnF_C2H2 609 632 1.01e2 SMART
ZnF_C2H2 695 718 6.23e-2 SMART
ZnF_U1 721 755 2.96e0 SMART
ZnF_C2H2 724 748 7.11e0 SMART
ZnF_C2H2 840 863 7.55e-1 SMART
ZnF_U1 866 900 3.81e-1 SMART
ZnF_C2H2 869 893 1.07e0 SMART
ZnF_C2H2 1009 1032 6.13e-1 SMART
ZnF_U1 1035 1069 2.22e0 SMART
ZnF_C2H2 1038 1062 5.62e0 SMART
low complexity region 1223 1234 N/A INTRINSIC
ZnF_C2H2 1405 1428 5.92e0 SMART
ZnF_U1 1432 1466 2.35e0 SMART
ZnF_C2H2 1435 1459 1.76e-1 SMART
ZnF_C2H2 1477 1500 5.42e-2 SMART
ZnF_C2H2 1528 1552 1.68e1 SMART
ZnF_C2H2 1558 1580 1.43e-1 SMART
ZnF_C2H2 1586 1609 9.58e-3 SMART
ZnF_C2H2 1619 1641 2.61e-4 SMART
ZnF_C2H2 1647 1671 1.04e-3 SMART
ZnF_C2H2 1677 1699 9.44e-2 SMART
ZnF_C2H2 1705 1727 1.82e-3 SMART
ZnF_C2H2 1733 1758 4.65e-1 SMART
ZnF_C2H2 1764 1787 1.26e-2 SMART
low complexity region 1876 1887 N/A INTRINSIC
low complexity region 2017 2032 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182297
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.6%
Validation Efficiency 99% (119/120)
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 whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 116 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,207,744 (GRCm39) V41A probably benign Het
Acad11 A G 9: 103,972,762 (GRCm39) Q367R probably benign Het
Ackr4 A G 9: 103,976,203 (GRCm39) V248A possibly damaging Het
Adamts14 T C 10: 61,038,666 (GRCm39) E945G probably damaging Het
Ano2 A G 6: 125,959,728 (GRCm39) M663V probably damaging Het
Apc2 T A 10: 80,142,090 (GRCm39) C336* probably null Het
Arhgap17 A G 7: 122,893,741 (GRCm39) S560P probably benign Het
Arl5a T C 2: 52,295,026 (GRCm39) D128G probably damaging Het
Atp6v0a2 C A 5: 124,795,046 (GRCm39) R678S probably benign Het
B4galnt2 C A 11: 95,782,735 (GRCm39) A26S probably benign Het
C1qtnf1 A T 11: 118,337,454 (GRCm39) T95S possibly damaging Het
Ccdc188 T A 16: 18,036,784 (GRCm39) F241L probably benign Het
Cdh19 A T 1: 110,853,597 (GRCm39) D281E probably benign Het
Cdk5rap2 T C 4: 70,273,050 (GRCm39) E241G probably damaging Het
Cherp A T 8: 73,216,246 (GRCm39) probably null Het
Cpne9 T A 6: 113,267,361 (GRCm39) probably benign Het
Cthrc1 A T 15: 38,940,537 (GRCm39) R47W possibly damaging Het
Dcaf13 A G 15: 38,986,663 (GRCm39) E145G probably benign Het
Dcaf4 T A 12: 83,584,817 (GRCm39) probably null Het
Dgka A C 10: 128,568,979 (GRCm39) probably benign Het
Dhrs13 T A 11: 77,925,351 (GRCm39) F157L probably damaging Het
Dnajb5 A T 4: 42,956,577 (GRCm39) Y88F probably damaging Het
Dpp8 A G 9: 64,944,280 (GRCm39) T16A probably damaging Het
Dscc1 A T 15: 54,952,448 (GRCm39) I91K possibly damaging Het
Efemp2 T A 19: 5,525,091 (GRCm39) probably benign Het
Elf2 T C 3: 51,163,874 (GRCm39) T504A possibly damaging Het
Elk3 G A 10: 93,101,022 (GRCm39) S243F probably damaging Het
Ell2 A G 13: 75,898,112 (GRCm39) D93G probably damaging Het
Eln G T 5: 134,741,252 (GRCm39) probably benign Het
Eme1 C T 11: 94,541,256 (GRCm39) D189N possibly damaging Het
Epb41l2 A G 10: 25,319,668 (GRCm39) E167G possibly damaging Het
Exoc5 A T 14: 49,273,544 (GRCm39) probably benign Het
Fam170b A G 14: 32,558,271 (GRCm39) K369E unknown Het
Fam187b T A 7: 30,676,579 (GRCm39) C29* probably null Het
Fam20c T C 5: 138,752,392 (GRCm39) S260P possibly damaging Het
Fam216b G A 14: 78,324,114 (GRCm39) A21V possibly damaging Het
Fam98a A T 17: 75,845,482 (GRCm39) Y421* probably null Het
Farp2 T C 1: 93,504,222 (GRCm39) V333A probably damaging Het
Fcgr1 T C 3: 96,199,628 (GRCm39) Y93C probably damaging Het
Fgd2 A T 17: 29,584,526 (GRCm39) I157F probably damaging Het
Frmd4b T A 6: 97,302,387 (GRCm39) probably benign Het
Fut9 T C 4: 25,620,526 (GRCm39) D96G possibly damaging Het
Glt8d1 G A 14: 30,732,367 (GRCm39) probably null Het
Gm7579 T A 7: 141,766,121 (GRCm39) C176S unknown Het
Gmpr2 A G 14: 55,915,445 (GRCm39) E272G probably damaging Het
Grin2b T C 6: 135,710,927 (GRCm39) H873R probably damaging Het
Gtf2i C T 5: 134,271,027 (GRCm39) probably benign Het
Htr3b A T 9: 48,858,931 (GRCm39) V69E probably benign Het
Icam5 A G 9: 20,946,894 (GRCm39) N474S probably benign Het
Itgal T A 7: 126,913,232 (GRCm39) S610T probably damaging Het
Jag1 T A 2: 136,929,000 (GRCm39) I819L probably damaging Het
Kif9 A T 9: 110,340,408 (GRCm39) E467V probably benign Het
Krit1 T C 5: 3,873,694 (GRCm39) L491P possibly damaging Het
Lipo2 T G 19: 33,724,302 (GRCm39) I155L possibly damaging Het
Lmbr1 A G 5: 29,497,207 (GRCm39) F65L possibly damaging Het
Lsp1 G A 7: 142,042,687 (GRCm39) probably benign Het
Mgat5 T A 1: 127,339,985 (GRCm39) D455E probably damaging Het
Mical2 A T 7: 111,917,657 (GRCm39) Y338F probably damaging Het
Mre11a T G 9: 14,726,505 (GRCm39) S396A probably benign Het
Mrtfa G A 15: 80,901,375 (GRCm39) T372I probably damaging Het
Mtarc2 T C 1: 184,573,536 (GRCm39) N121D probably benign Het
Myo3a C T 2: 22,436,370 (GRCm39) probably benign Het
Naca T C 10: 127,876,224 (GRCm39) probably benign Het
Nav1 A T 1: 135,395,381 (GRCm39) I996K possibly damaging Het
Ncbp1 A G 4: 46,170,551 (GRCm39) N742S probably benign Het
Ndufaf3 G A 9: 108,444,122 (GRCm39) A2V probably benign Het
Niban3 C A 8: 72,051,779 (GRCm39) A38E probably benign Het
Ntn5 G T 7: 45,336,105 (GRCm39) A47S probably damaging Het
Or10ag57 T A 2: 87,218,298 (GRCm39) I83N probably damaging Het
Or1e25 G A 11: 73,494,218 (GRCm39) E271K probably benign Het
Or1e32 T C 11: 73,705,443 (GRCm39) H155R probably benign Het
Or2a7 T A 6: 43,151,541 (GRCm39) V207E possibly damaging Het
Or6c207 T C 10: 129,105,021 (GRCm39) Y57C possibly damaging Het
Or9i1 G T 19: 13,839,643 (GRCm39) C162F probably benign Het
Otud7a T A 7: 63,377,220 (GRCm39) L203* probably null Het
Pakap A G 4: 57,856,752 (GRCm39) T694A probably benign Het
Pcdhb13 A G 18: 37,576,984 (GRCm39) Y454C probably damaging Het
Pdzph1 C T 17: 59,261,474 (GRCm39) V853M possibly damaging Het
Plec A G 15: 76,056,453 (GRCm39) S4517P probably damaging Het
Pm20d2 C T 4: 33,181,746 (GRCm39) E286K probably damaging Het
Polr2i T A 7: 29,932,170 (GRCm39) probably null Het
Ppp1r12b A G 1: 134,704,217 (GRCm39) L879P probably damaging Het
Prf1 C A 10: 61,139,501 (GRCm39) Y486* probably null Het
Qsox2 T G 2: 26,104,056 (GRCm39) T325P probably damaging Het
Rab1b G T 19: 5,150,684 (GRCm39) probably benign Het
Rbm19 T C 5: 120,266,381 (GRCm39) probably null Het
Rhobtb2 A G 14: 70,031,397 (GRCm39) V576A probably benign Het
Rnps1 G A 17: 24,643,411 (GRCm39) V215M probably damaging Het
Rps11 A G 7: 44,773,706 (GRCm39) probably benign Het
Serpinb3d C T 1: 107,007,077 (GRCm39) M210I probably damaging Het
Sgsm1 T C 5: 113,458,428 (GRCm39) T17A probably benign Het
Slc6a3 A G 13: 73,686,761 (GRCm39) T43A probably damaging Het
Sox4 C G 13: 29,136,887 (GRCm39) A40P probably damaging Het
Spry2 A T 14: 106,130,744 (GRCm39) D147E possibly damaging Het
Stpg1 A G 4: 135,246,742 (GRCm39) N157D possibly damaging Het
Sumf1 T C 6: 108,150,375 (GRCm39) D152G probably benign Het
Tbr1 T C 2: 61,641,964 (GRCm39) S410P possibly damaging Het
Tdrd6 A G 17: 43,940,274 (GRCm39) V258A probably damaging Het
Tirap C T 9: 35,100,057 (GRCm39) G209D probably damaging Het
Tnfrsf8 A T 4: 145,023,431 (GRCm39) V134D probably damaging Het
Tnr A G 1: 159,677,905 (GRCm39) T97A probably benign Het
Tspan32 T A 7: 142,569,347 (GRCm39) F135L probably damaging Het
Ttn T C 2: 76,619,400 (GRCm39) K16021E probably damaging Het
Tusc3 T A 8: 39,564,122 (GRCm39) I251N probably damaging Het
Usp38 A T 8: 81,731,995 (GRCm39) I305N probably damaging Het
Usp4 T A 9: 108,248,080 (GRCm39) probably null Het
Usp5 A T 6: 124,794,387 (GRCm39) D764E probably damaging Het
Vangl2 A T 1: 171,832,224 (GRCm39) V544E probably damaging Het
Vldlr G A 19: 27,212,219 (GRCm39) V78M probably damaging Het
Vmn1r29 T C 6: 58,284,757 (GRCm39) V159A probably benign Het
Vmn2r16 T A 5: 109,511,762 (GRCm39) F656L probably damaging Het
Wdfy3 T A 5: 102,054,051 (GRCm39) I1590F possibly damaging Het
Xpo1 T A 11: 23,230,402 (GRCm39) V263E probably damaging Het
Zbtb38 A G 9: 96,568,007 (GRCm39) S1026P probably damaging Het
Zfp637 T A 6: 117,822,647 (GRCm39) Y258* probably null Het
Zfp951 T A 5: 104,962,438 (GRCm39) Q376L possibly damaging Het
Other mutations in Zfp407
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Zfp407 APN 18 84,579,877 (GRCm39) missense probably damaging 0.99
IGL02105:Zfp407 APN 18 84,580,845 (GRCm39) nonsense probably null
IGL02110:Zfp407 APN 18 84,577,165 (GRCm39) missense probably benign 0.00
IGL02343:Zfp407 APN 18 84,227,849 (GRCm39) missense possibly damaging 0.71
IGL02456:Zfp407 APN 18 84,576,766 (GRCm39) missense probably damaging 1.00
IGL02705:Zfp407 APN 18 84,577,156 (GRCm39) nonsense probably null
IGL02946:Zfp407 APN 18 84,578,834 (GRCm39) missense probably damaging 1.00
IGL03069:Zfp407 APN 18 84,369,100 (GRCm39) missense probably damaging 1.00
IGL03145:Zfp407 APN 18 84,227,846 (GRCm39) missense probably damaging 0.99
IGL03403:Zfp407 APN 18 84,578,922 (GRCm39) missense probably damaging 1.00
IGL03134:Zfp407 UTSW 18 84,228,080 (GRCm39) missense probably damaging 0.99
PIT4362001:Zfp407 UTSW 18 84,579,393 (GRCm39) missense possibly damaging 0.87
PIT4520001:Zfp407 UTSW 18 84,450,545 (GRCm39) missense probably damaging 0.99
R0087:Zfp407 UTSW 18 84,578,536 (GRCm39) missense probably damaging 1.00
R0243:Zfp407 UTSW 18 84,576,836 (GRCm39) missense probably damaging 1.00
R0766:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R0787:Zfp407 UTSW 18 84,227,471 (GRCm39) missense probably benign 0.00
R0787:Zfp407 UTSW 18 84,227,147 (GRCm39) missense probably damaging 1.00
R1065:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1086:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1165:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1186:Zfp407 UTSW 18 84,227,573 (GRCm39) missense probably benign 0.39
R1203:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1312:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1345:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1385:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1421:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1430:Zfp407 UTSW 18 84,227,580 (GRCm39) missense probably benign 0.18
R1436:Zfp407 UTSW 18 84,361,196 (GRCm39) splice site probably benign
R1498:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1526:Zfp407 UTSW 18 84,579,158 (GRCm39) missense possibly damaging 0.61
R1579:Zfp407 UTSW 18 84,227,763 (GRCm39) missense probably benign 0.00
R1594:Zfp407 UTSW 18 84,227,456 (GRCm39) missense probably benign 0.01
R1628:Zfp407 UTSW 18 84,372,658 (GRCm39) missense probably damaging 1.00
R1698:Zfp407 UTSW 18 84,580,282 (GRCm39) missense probably damaging 1.00
R1962:Zfp407 UTSW 18 84,577,461 (GRCm39) missense probably benign 0.01
R1984:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1985:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R1986:Zfp407 UTSW 18 84,577,898 (GRCm39) missense probably benign 0.14
R2151:Zfp407 UTSW 18 84,227,774 (GRCm39) missense possibly damaging 0.55
R2152:Zfp407 UTSW 18 84,227,774 (GRCm39) missense possibly damaging 0.55
R2154:Zfp407 UTSW 18 84,227,774 (GRCm39) missense possibly damaging 0.55
R2259:Zfp407 UTSW 18 84,227,918 (GRCm39) missense probably damaging 1.00
R2353:Zfp407 UTSW 18 84,578,005 (GRCm39) missense probably damaging 1.00
R2845:Zfp407 UTSW 18 84,576,522 (GRCm39) nonsense probably null
R3407:Zfp407 UTSW 18 84,576,997 (GRCm39) missense probably benign 0.08
R3432:Zfp407 UTSW 18 84,226,871 (GRCm39) missense probably damaging 1.00
R3892:Zfp407 UTSW 18 84,578,477 (GRCm39) missense probably damaging 1.00
R4026:Zfp407 UTSW 18 84,577,721 (GRCm39) missense possibly damaging 0.82
R4107:Zfp407 UTSW 18 84,361,132 (GRCm39) missense possibly damaging 0.82
R4398:Zfp407 UTSW 18 84,580,856 (GRCm39) nonsense probably null
R4447:Zfp407 UTSW 18 84,580,819 (GRCm39) missense possibly damaging 0.95
R4752:Zfp407 UTSW 18 84,581,039 (GRCm39) missense probably benign 0.01
R4881:Zfp407 UTSW 18 84,577,828 (GRCm39) missense probably benign 0.27
R4936:Zfp407 UTSW 18 84,577,589 (GRCm39) missense probably benign 0.00
R5194:Zfp407 UTSW 18 84,579,434 (GRCm39) missense probably benign 0.05
R5243:Zfp407 UTSW 18 84,579,216 (GRCm39) missense probably damaging 1.00
R5258:Zfp407 UTSW 18 84,334,051 (GRCm39) missense probably damaging 1.00
R5591:Zfp407 UTSW 18 84,579,262 (GRCm39) missense probably damaging 1.00
R5633:Zfp407 UTSW 18 84,579,169 (GRCm39) missense probably benign 0.35
R5739:Zfp407 UTSW 18 84,226,867 (GRCm39) makesense probably null
R5806:Zfp407 UTSW 18 84,576,739 (GRCm39) missense probably damaging 1.00
R5820:Zfp407 UTSW 18 84,578,649 (GRCm39) missense probably benign 0.01
R6187:Zfp407 UTSW 18 84,577,134 (GRCm39) missense possibly damaging 0.87
R6512:Zfp407 UTSW 18 84,578,474 (GRCm39) missense probably damaging 1.00
R6521:Zfp407 UTSW 18 84,450,536 (GRCm39) missense probably damaging 1.00
R6748:Zfp407 UTSW 18 84,226,955 (GRCm39) missense probably damaging 0.98
R6882:Zfp407 UTSW 18 84,361,194 (GRCm39) splice site probably null
R6899:Zfp407 UTSW 18 84,579,559 (GRCm39) missense possibly damaging 0.86
R7038:Zfp407 UTSW 18 84,579,982 (GRCm39) missense probably damaging 1.00
R7076:Zfp407 UTSW 18 84,576,601 (GRCm39) missense probably damaging 1.00
R7326:Zfp407 UTSW 18 84,577,167 (GRCm39) missense possibly damaging 0.77
R7397:Zfp407 UTSW 18 84,579,944 (GRCm39) missense possibly damaging 0.59
R7402:Zfp407 UTSW 18 84,579,661 (GRCm39) missense probably benign 0.02
R7783:Zfp407 UTSW 18 84,228,047 (GRCm39) missense possibly damaging 0.69
R7800:Zfp407 UTSW 18 84,578,800 (GRCm39) missense probably damaging 0.99
R7904:Zfp407 UTSW 18 84,579,381 (GRCm39) missense not run
R7942:Zfp407 UTSW 18 84,577,754 (GRCm39) missense probably benign 0.02
R7955:Zfp407 UTSW 18 84,577,416 (GRCm39) missense probably benign 0.02
R7988:Zfp407 UTSW 18 84,577,525 (GRCm39) missense possibly damaging 0.60
R8125:Zfp407 UTSW 18 84,579,310 (GRCm39) missense probably damaging 1.00
R8237:Zfp407 UTSW 18 84,578,269 (GRCm39) missense possibly damaging 0.87
R8364:Zfp407 UTSW 18 84,570,993 (GRCm39) critical splice donor site probably null
R8443:Zfp407 UTSW 18 84,227,987 (GRCm39) missense probably damaging 1.00
R8487:Zfp407 UTSW 18 84,580,895 (GRCm39) nonsense probably null
R8497:Zfp407 UTSW 18 84,578,021 (GRCm39) missense probably damaging 0.98
R8808:Zfp407 UTSW 18 84,361,185 (GRCm39) missense probably benign 0.17
R8848:Zfp407 UTSW 18 84,578,819 (GRCm39) missense probably damaging 1.00
R8913:Zfp407 UTSW 18 84,578,653 (GRCm39) missense probably damaging 0.99
R8962:Zfp407 UTSW 18 84,577,057 (GRCm39) missense probably damaging 1.00
R9087:Zfp407 UTSW 18 84,227,982 (GRCm39) missense probably damaging 0.96
R9452:Zfp407 UTSW 18 84,580,579 (GRCm39) missense probably benign 0.02
R9691:Zfp407 UTSW 18 84,578,312 (GRCm39) missense probably benign 0.03
R9766:Zfp407 UTSW 18 84,577,574 (GRCm39) missense probably benign 0.06
RF003:Zfp407 UTSW 18 84,227,688 (GRCm39) missense probably benign 0.17
Z1177:Zfp407 UTSW 18 84,228,079 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CACTCCACATGCTTTTCCAAAGCAG -3'
(R):5'- TGTTTCATCCCGCGATGACAGTTC -3'

Sequencing Primer
(F):5'- TGCTTTTCCAAAGCAGAGCAAG -3'
(R):5'- CTGATGACATGGCAAATGTCTCTG -3'
Posted On 2013-07-11