Incidental Mutation 'R8443:Zfp407'
ID 654346
Institutional Source Beutler Lab
Gene Symbol Zfp407
Ensembl Gene ENSMUSG00000048410
Gene Name zinc finger protein 407
Synonyms LOC381139, 6430585N13Rik, LOC240469
MMRRC Submission 067825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 84225826-84612815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84227987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1874 (E1874G)
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: E1874G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: E1874G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 C T 7: 45,629,449 (GRCm39) V1293M probably damaging Het
Agt A G 8: 125,290,537 (GRCm39) W257R possibly damaging Het
Arhgef11 T A 3: 87,620,406 (GRCm39) N457K probably benign Het
Bcl3 G T 7: 19,554,082 (GRCm39) H95Q probably benign Het
C1d T A 11: 17,213,662 (GRCm39) N64K probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cd300c2 C T 11: 114,891,466 (GRCm39) S136N probably benign Het
Cdh8 A G 8: 99,757,672 (GRCm39) V642A possibly damaging Het
Cep290 A T 10: 100,331,706 (GRCm39) I180F possibly damaging Het
Copz2 A G 11: 96,744,887 (GRCm39) E86G probably damaging Het
Cplane1 A G 15: 8,230,635 (GRCm39) I971V probably benign Het
Cracdl A G 1: 37,652,537 (GRCm39) V1090A probably benign Het
Csf3r A T 4: 125,923,712 (GRCm39) D74V possibly damaging Het
Cyp11b1 T G 15: 74,710,789 (GRCm39) E257A possibly damaging Het
Dlg2 A G 7: 92,024,875 (GRCm39) Q580R probably damaging Het
Dnai2 A T 11: 114,645,275 (GRCm39) K570M unknown Het
Dock8 A G 19: 25,133,281 (GRCm39) K1143E probably benign Het
Dxo T C 17: 35,058,099 (GRCm39) S394P probably benign Het
Etl4 A G 2: 20,810,977 (GRCm39) D1388G probably benign Het
F13a1 C A 13: 37,209,692 (GRCm39) R91L probably damaging Het
Fam50b C T 13: 34,930,856 (GRCm39) R111* probably null Het
Fat2 T G 11: 55,202,535 (GRCm39) N180H probably damaging Het
Fitm2 A T 2: 163,311,768 (GRCm39) H148Q probably benign Het
Fjx1 A T 2: 102,281,156 (GRCm39) S260T possibly damaging Het
Fos T C 12: 85,522,466 (GRCm39) L165P probably damaging Het
Gm39115 C A 7: 141,689,710 (GRCm39) C21F unknown Het
Gucy1a1 C T 3: 82,005,000 (GRCm39) C595Y probably damaging Het
Hectd4 G T 5: 121,467,172 (GRCm39) W2478L possibly damaging Het
I830077J02Rik T A 3: 105,836,060 (GRCm39) K9N probably damaging Het
Ift70a1 T C 2: 75,811,519 (GRCm39) D188G probably benign Het
Ireb2 T C 9: 54,811,265 (GRCm39) F723L possibly damaging Het
Itpr1 G A 6: 108,496,309 (GRCm39) V2580I probably damaging Het
Kcnu1 G A 8: 26,382,092 (GRCm39) G481R probably damaging Het
Kdm3b G T 18: 34,926,129 (GRCm39) A90S probably benign Het
Klra8 A G 6: 130,105,056 (GRCm39) V23A probably damaging Het
Lig4 A G 8: 10,023,777 (GRCm39) M1T probably null Het
Lpin3 C T 2: 160,737,273 (GRCm39) P107S probably damaging Het
Lrp1b T A 2: 41,265,867 (GRCm39) K1100* probably null Het
Obscn G A 11: 58,929,700 (GRCm39) H5172Y probably damaging Het
Or10a3m T A 7: 108,313,418 (GRCm39) M286K possibly damaging Het
Or4p20 A G 2: 88,253,745 (GRCm39) I208T probably benign Het
Or5ae1 C T 7: 84,565,787 (GRCm39) H267Y probably benign Het
Or6z1 T A 7: 6,504,734 (GRCm39) T170S probably damaging Het
Or8c14-ps1 A T 9: 38,101,498 (GRCm39) H159L possibly damaging Het
Orc3 A G 4: 34,593,173 (GRCm39) L298P probably damaging Het
Otub1 A G 19: 7,177,360 (GRCm39) F96L probably damaging Het
Pcnx3 A G 19: 5,736,670 (GRCm39) S156P probably benign Het
Pde3b A G 7: 114,126,129 (GRCm39) M788V probably damaging Het
Pias4 A G 10: 80,992,844 (GRCm39) probably null Het
Polg A G 7: 79,114,743 (GRCm39) C73R probably benign Het
Ptbp2 T C 3: 119,541,467 (GRCm39) Y190C probably damaging Het
Rab33b T A 3: 51,401,050 (GRCm39) F175I probably damaging Het
Rfx1 A G 8: 84,806,515 (GRCm39) T108A probably benign Het
Ribc2 A G 15: 85,019,461 (GRCm39) D81G probably benign Het
Rnf213 T G 11: 119,340,149 (GRCm39) M3460R Het
Rsf1 T A 7: 97,266,103 (GRCm39) S86T Het
Rxfp2 C A 5: 149,973,068 (GRCm39) T181N possibly damaging Het
Samm50 G A 15: 84,094,702 (GRCm39) E365K possibly damaging Het
Shld2 A C 14: 33,989,942 (GRCm39) N321K probably benign Het
Slc22a18 T C 7: 143,051,123 (GRCm39) V334A probably damaging Het
Slc23a3 A T 1: 75,110,085 (GRCm39) C97S probably benign Het
Smchd1 T A 17: 71,714,244 (GRCm39) H873L probably benign Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Sphkap T A 1: 83,255,953 (GRCm39) I599F probably benign Het
Stox1 A G 10: 62,501,543 (GRCm39) V339A probably damaging Het
Tlx1 A G 19: 45,142,036 (GRCm39) E220G probably damaging Het
Tmem71 C A 15: 66,413,421 (GRCm39) probably null Het
Tmprss3 T C 17: 31,413,976 (GRCm39) D56G possibly damaging Het
Trabd A G 15: 88,970,107 (GRCm39) R368G probably benign Het
Trf A G 9: 103,094,675 (GRCm39) I461T probably damaging Het
Trpm3 A G 19: 22,676,226 (GRCm39) T133A possibly damaging Het
Trpv3 G A 11: 73,186,209 (GRCm39) V667I possibly damaging Het
Vps13b T A 15: 35,455,246 (GRCm39) N718K probably benign Het
Zdbf2 T C 1: 63,345,166 (GRCm39) S1182P possibly damaging Het
Zfp13 T C 17: 23,795,866 (GRCm39) D235G probably benign Het
Zfp503 T C 14: 22,036,277 (GRCm39) K213R probably benign Het
Zkscan2 A G 7: 123,084,651 (GRCm39) V491A probably 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
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
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
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'- GTCCACACTGTGACTTTCCATG -3'
(R):5'- AGGACAAGGAGCCACGTTTG -3'

Sequencing Primer
(F):5'- ACACTGTGACTTTCCATGGAACC -3'
(R):5'- TTTGTGGAGACAGACAGCCC -3'
Posted On 2020-10-20