Incidental Mutation 'R2259:Zfp407'
ID 243693
Institutional Source Beutler Lab
Gene Symbol Zfp407
Ensembl Gene ENSMUSG00000048410
Gene Name zinc finger protein 407
Synonyms LOC381139, 6430585N13Rik, LOC240469
MMRRC Submission 040259-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2259 (G1)
Quality Score 214
Status Not validated
Chromosome 18
Chromosomal Location 84225826-84612815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 84227918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1897 (T1897K)
Ref Sequence ENSEMBL: ENSMUSP00000118361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125763]
AlphaFold G3UVV3
Predicted Effect probably benign
Transcript: ENSMUST00000125450
Predicted Effect probably damaging
Transcript: ENSMUST00000125763
AA Change: T1897K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: T1897K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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 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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T G 5: 129,189,375 (GRCm39) S91A possibly damaging Het
Ankrd13b T G 11: 77,367,168 (GRCm39) N247T probably damaging Het
Atp10b A G 11: 43,063,572 (GRCm39) D169G probably damaging Het
Atp10b G A 11: 43,080,440 (GRCm39) V239M probably damaging Het
Cflar C T 1: 58,768,280 (GRCm39) T121I probably benign Het
Clca3b T C 3: 144,552,142 (GRCm39) N180D possibly damaging Het
Cnbd2 T A 2: 156,177,192 (GRCm39) I62N probably damaging Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Cyp2a4 C T 7: 26,008,460 (GRCm39) L201F probably damaging Het
D630003M21Rik A T 2: 158,046,631 (GRCm39) L782Q probably damaging Het
Dctn1 C A 6: 83,174,568 (GRCm39) H1065N possibly damaging Het
Dgcr2 A T 16: 17,662,841 (GRCm39) probably null Het
Dlg4 T C 11: 69,922,196 (GRCm39) I143T probably damaging Het
E2f7 T G 10: 110,582,204 (GRCm39) N4K probably damaging Het
Eef2kmt C T 16: 5,063,172 (GRCm39) V323I probably benign Het
Eif2ak4 A C 2: 118,286,264 (GRCm39) I1017L probably damaging Het
Eln C A 5: 134,758,508 (GRCm39) A126S unknown Het
Exoc7 T C 11: 116,197,237 (GRCm39) S35G probably damaging Het
Fam187a A G 11: 102,776,124 (GRCm39) probably benign Het
Fkbp6 C T 5: 135,366,468 (GRCm39) probably null Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fmn2 T A 1: 174,330,498 (GRCm39) L296H unknown Het
Galnt14 C A 17: 73,801,261 (GRCm39) M520I probably benign Het
Gba2 A G 4: 43,570,107 (GRCm39) C396R probably benign Het
Gigyf1 C A 5: 137,518,594 (GRCm39) A215E possibly damaging Het
Glb1 C T 9: 114,272,100 (GRCm39) Q246* probably null Het
Gm11565 T G 11: 99,805,844 (GRCm39) C79G possibly damaging Het
Gpr160 A G 3: 30,950,444 (GRCm39) Y172C probably damaging Het
Ift52 A G 2: 162,870,013 (GRCm39) N159S probably benign Het
Insrr A G 3: 87,707,759 (GRCm39) D67G probably damaging Het
Insyn2a T A 7: 134,519,396 (GRCm39) E378V probably damaging Het
Irf2 A G 8: 47,290,868 (GRCm39) Y230C probably benign Het
Jmjd6 T C 11: 116,732,140 (GRCm39) H187R probably damaging Het
Kdm2b C T 5: 123,020,479 (GRCm39) G90S probably damaging Het
Kif7 C T 7: 79,361,337 (GRCm39) G118D probably damaging Het
Klhl38 G C 15: 58,178,374 (GRCm39) T532S possibly damaging Het
Kmt2a G T 9: 44,792,440 (GRCm39) probably benign Het
Lama2 A G 10: 26,907,123 (GRCm39) L2346S probably benign Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mllt6 T C 11: 97,555,802 (GRCm39) V44A probably damaging Het
Muc5ac A G 7: 141,344,745 (GRCm39) N72S probably benign Het
Myo7a T G 7: 97,718,706 (GRCm39) D1388A probably damaging Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Ncoa1 A C 12: 4,365,819 (GRCm39) H82Q probably damaging Het
Npbwr1 C A 1: 5,986,877 (GRCm39) L212F probably damaging Het
Nptx1 T G 11: 119,434,142 (GRCm39) I315L probably benign Het
Npy2r G T 3: 82,448,661 (GRCm39) P38Q possibly damaging Het
Ocln A T 13: 100,671,537 (GRCm39) D24E probably damaging Het
Or14c41 T A 7: 86,235,092 (GRCm39) V203D possibly damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Phf3 A G 1: 30,843,424 (GRCm39) V1845A probably benign Het
Plch1 T A 3: 63,605,398 (GRCm39) Q1493L possibly damaging Het
Pold1 T C 7: 44,190,908 (GRCm39) probably benign Het
Polq T C 16: 36,882,459 (GRCm39) V1541A probably benign Het
Psmd3 T A 11: 98,581,790 (GRCm39) M305K probably benign Het
Pura T C 18: 36,420,803 (GRCm39) F197L possibly damaging Het
Rab3gap2 T A 1: 184,954,056 (GRCm39) W43R probably damaging Het
Repin1 A G 6: 48,573,464 (GRCm39) Q128R probably benign Het
Rnf208 G A 2: 25,133,656 (GRCm39) V117I probably damaging Het
Rpe65 A G 3: 159,321,208 (GRCm39) Y340C probably damaging Het
Ryr1 C A 7: 28,719,166 (GRCm39) V4414L unknown Het
Sephs2 T C 7: 126,872,649 (GRCm39) E148G possibly damaging Het
Spns2 T A 11: 72,348,094 (GRCm39) Q291L probably benign Het
Ssc5d C T 7: 4,946,915 (GRCm39) P1090S probably benign Het
Tasp1 A T 2: 139,793,426 (GRCm39) V250D probably damaging Het
Tcaf3 A G 6: 42,568,364 (GRCm39) I664T possibly damaging Het
Tg T C 15: 66,555,747 (GRCm39) V813A probably benign Het
Tmem132c T C 5: 127,581,988 (GRCm39) L401P probably benign Het
Tmem138 T C 19: 10,548,967 (GRCm39) N101S probably benign Het
Tmem242 G T 17: 5,483,745 (GRCm39) A99E probably damaging Het
Tmem30a C T 9: 79,681,446 (GRCm39) R277H probably benign Het
Tmt1a A T 15: 100,211,049 (GRCm39) I174F probably benign Het
Tnni3 T A 7: 4,522,405 (GRCm39) I182F probably benign Het
Trim30a T A 7: 104,060,711 (GRCm39) D355V probably damaging Het
Trim35 C T 14: 66,546,711 (GRCm39) R493* probably null Het
Trip10 G C 17: 57,562,135 (GRCm39) V254L probably benign Het
Tshz2 A T 2: 169,728,326 (GRCm39) Q505L probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Unc13b A T 4: 43,182,780 (GRCm39) E3163V possibly damaging Het
Unc45b T A 11: 82,808,625 (GRCm39) M237K probably benign Het
Usp8 A G 2: 126,600,488 (GRCm39) T1080A probably benign Het
Vmn2r65 T A 7: 84,590,119 (GRCm39) H599L possibly damaging Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Zzef1 C T 11: 72,791,459 (GRCm39) R2188* probably null 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
R0594:Zfp407 UTSW 18 84,580,692 (GRCm39) missense possibly damaging 0.87
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
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'- TGTATGACAGCAGCACCTGG -3'
(R):5'- ACGTTTGTGGAGACAGACAG -3'

Sequencing Primer
(F):5'- AGCAGCACCTGGGCTGAG -3'
(R):5'- TGGAGACAGACAGCCCCTTC -3'
Posted On 2014-10-16