Incidental Mutation 'PIT4362001:Zfp407'
ID 554659
Institutional Source Beutler Lab
Gene Symbol Zfp407
Ensembl Gene ENSMUSG00000048410
Gene Name zinc finger protein 407
Synonyms LOC381139, 6430585N13Rik, LOC240469
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4362001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 84225826-84612815 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84579393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 573 (N573K)
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: N573K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: N573K

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: 93.4%
  • 3x: 91.2%
  • 10x: 87.0%
  • 20x: 78.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,283,398 (GRCm39) S28P possibly damaging Het
Akr1c14 T C 13: 4,129,100 (GRCm39) V165A probably damaging Het
Aox1 A T 1: 58,321,839 (GRCm39) T44S probably damaging Het
Arhgap29 T A 3: 121,796,861 (GRCm39) N482K probably benign Het
Arhgef38 T A 3: 132,866,591 (GRCm39) D182V Het
Atad5 C T 11: 80,002,393 (GRCm39) H1062Y probably benign Het
Atp6v0b A G 4: 117,742,453 (GRCm39) S147P possibly damaging Het
Cblb T A 16: 51,959,905 (GRCm39) Y299* probably null Het
Ccdc28b T C 4: 129,514,818 (GRCm39) N97S probably benign Het
Cdh23 A G 10: 60,301,237 (GRCm39) V479A probably benign Het
Chuk A G 19: 44,087,022 (GRCm39) probably null Het
Cmtr2 G A 8: 110,948,968 (GRCm39) G426D probably damaging Het
Cog4 G A 8: 111,593,304 (GRCm39) D472N probably damaging Het
Creb3 T A 4: 43,565,472 (GRCm39) L193* probably null Het
Cxcr6 A T 9: 123,639,526 (GRCm39) I183F probably benign Het
Dbf4 A G 5: 8,453,664 (GRCm39) F253L probably benign Het
Dcaf8 T C 1: 172,000,364 (GRCm39) V174A probably damaging Het
Ddhd2 T C 8: 26,225,779 (GRCm39) Y526C probably damaging Het
Dnal4 A G 15: 79,647,766 (GRCm39) V33A probably benign Het
Egfl7 C T 2: 26,481,052 (GRCm39) P188L probably benign Het
Ephb3 A G 16: 21,039,607 (GRCm39) E707G probably damaging Het
Epn3 C T 11: 94,387,349 (GRCm39) R7H probably damaging Het
Fbp1 T A 13: 63,015,194 (GRCm39) I262F probably damaging Het
Fgfbp3 G A 19: 36,896,088 (GRCm39) R177* probably null Het
Gask1b C A 3: 79,794,246 (GRCm39) S238Y possibly damaging Het
Gbp5 T C 3: 142,206,471 (GRCm39) S52P probably damaging Het
Glb1l2 A T 9: 26,685,277 (GRCm39) S282T probably benign Het
Glg1 A T 8: 111,985,431 (GRCm39) V133E possibly damaging Het
Gm4787 T G 12: 81,423,949 (GRCm39) L736F probably benign Het
Gm5565 A T 5: 146,095,109 (GRCm39) S212R probably benign Het
Grin2c T C 11: 115,140,459 (GRCm39) T1220A probably benign Het
Grp T G 18: 66,019,297 (GRCm39) S133A probably benign Het
Gstp2 C A 19: 4,090,713 (GRCm39) D147Y possibly damaging Het
Igkv14-130 T C 6: 67,768,392 (GRCm39) F84L probably damaging Het
Inppl1 T C 7: 101,475,220 (GRCm39) R944G probably benign Het
Lama2 A T 10: 27,245,132 (GRCm39) N216K probably damaging Het
Lrp2 T A 2: 69,367,882 (GRCm39) D210V probably damaging Het
Lrrc2 A T 9: 110,791,608 (GRCm39) Q120L possibly damaging Het
Lrriq1 A G 10: 102,907,055 (GRCm39) I1555T probably benign Het
Map2 G A 1: 66,451,677 (GRCm39) G189D probably benign Het
Mdc1 A G 17: 36,155,361 (GRCm39) E12G possibly damaging Het
Mdga2 T C 12: 66,844,542 (GRCm39) D152G possibly damaging Het
Med23 A G 10: 24,750,469 (GRCm39) M99V probably benign Het
Mutyh G A 4: 116,674,267 (GRCm39) V273M probably damaging Het
Neurod2 T A 11: 98,218,708 (GRCm39) Y152F probably damaging Het
Or5d3 C T 2: 88,174,357 (GRCm39) A247T probably benign Het
Or5g25 A C 2: 85,478,068 (GRCm39) L199R probably damaging Het
Or8c20 G T 9: 38,260,494 (GRCm39) L32F probably benign Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pde6b T C 5: 108,571,451 (GRCm39) probably null Het
Pdzrn4 A T 15: 92,667,762 (GRCm39) D638V possibly damaging Het
Polr1b A G 2: 128,951,212 (GRCm39) D275G possibly damaging Het
Rnf157 T A 11: 116,251,143 (GRCm39) D127V probably damaging Het
Rspo4 T A 2: 151,709,803 (GRCm39) C69* probably null Het
Scara3 T C 14: 66,173,851 (GRCm39) T63A probably benign Het
Scn2a G A 2: 65,514,182 (GRCm39) E289K probably benign Het
Sh3gl2 A G 4: 85,295,786 (GRCm39) T163A probably benign Het
Slc2a10 T A 2: 165,358,213 (GRCm39) F446Y probably damaging Het
Snapc1 C T 12: 74,029,269 (GRCm39) R351C probably damaging Het
Snx6 A G 12: 54,814,815 (GRCm39) Y169H possibly damaging Het
Stab2 A T 10: 86,697,299 (GRCm39) C1996* probably null Het
Steap4 A G 5: 8,030,337 (GRCm39) T398A probably benign Het
Tep1 A T 14: 51,103,510 (GRCm39) L260Q probably benign Het
Tspan12 A T 6: 21,835,463 (GRCm39) V70D possibly damaging Het
Ttn G A 2: 76,569,362 (GRCm39) A27177V probably damaging Het
Ube3a T C 7: 58,925,870 (GRCm39) V237A possibly damaging Het
Vil1 G A 1: 74,460,542 (GRCm39) R233H probably damaging Het
Xrcc5 A G 1: 72,433,088 (GRCm39) T716A probably benign Het
Zbp1 A G 2: 173,058,783 (GRCm39) I18T probably damaging Het
Zfp292 A G 4: 34,807,524 (GRCm39) V1845A probably benign Het
Zfp64 T C 2: 168,767,735 (GRCm39) T626A probably benign 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
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
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'- AGCCGTCTTTGGTTGAACC -3'
(R):5'- TGCCAGTAAAGCCAGCTGAC -3'

Sequencing Primer
(F):5'- AACTATTATGTGACTCGGTTGCTC -3'
(R):5'- ACCACCAGCTCTCTGTGCAG -3'
Posted On 2019-06-07