Incidental Mutation 'R7028:Zfat'
ID 546151
Institutional Source Beutler Lab
Gene Symbol Zfat
Ensembl Gene ENSMUSG00000022335
Gene Name zinc finger and AT hook domain containing
Synonyms LOC380993, Zfp406, Zfat1
MMRRC Submission 045129-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7028 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 67955613-68130705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 68052301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 491 (F491V)
Ref Sequence ENSEMBL: ENSMUSP00000125732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160248] [ENSMUST00000162054] [ENSMUST00000162173]
AlphaFold Q7TS63
PDB Structure Solution structure of the 5th C2H2 zinc finger of mouse Zinc finger protein 406 [SOLUTION NMR]
Solution structure of the 8th C2H2 zinc finger of mouse Zinc finger protein 406 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000160248
AA Change: F498V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: F498V

DomainStartEndE-ValueType
ZnF_C2H2 12 35 2.45e0 SMART
ZnF_C2H2 116 136 1.53e2 SMART
low complexity region 220 236 N/A INTRINSIC
ZnF_C2H2 271 293 1.47e-3 SMART
ZnF_C2H2 299 321 1.18e-2 SMART
ZnF_C2H2 326 349 2.36e-2 SMART
ZnF_C2H2 354 377 4.4e-2 SMART
ZnF_C2H2 404 426 1.67e-2 SMART
ZnF_C2H2 432 454 1.33e-1 SMART
ZnF_C2H2 458 481 2.05e-2 SMART
low complexity region 601 617 N/A INTRINSIC
ZnF_C2H2 737 759 1.43e-1 SMART
ZnF_C2H2 765 788 3.52e-1 SMART
ZnF_C2H2 793 817 5.59e-4 SMART
ZnF_C2H2 825 848 3.83e-2 SMART
ZnF_C2H2 875 898 3.95e1 SMART
ZnF_C2H2 904 926 6.88e-4 SMART
ZnF_C2H2 932 954 8.94e-3 SMART
ZnF_C2H2 961 983 2.27e-4 SMART
ZnF_C2H2 989 1012 9.3e-1 SMART
ZnF_C2H2 1036 1059 5.21e-4 SMART
low complexity region 1073 1082 N/A INTRINSIC
low complexity region 1139 1149 N/A INTRINSIC
low complexity region 1218 1236 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162054
AA Change: F491V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: F491V

DomainStartEndE-ValueType
ZnF_C2H2 12 35 2.45e0 SMART
ZnF_C2H2 116 136 1.53e2 SMART
low complexity region 213 229 N/A INTRINSIC
ZnF_C2H2 264 286 1.47e-3 SMART
ZnF_C2H2 292 314 1.18e-2 SMART
ZnF_C2H2 319 342 2.36e-2 SMART
ZnF_C2H2 347 370 4.4e-2 SMART
ZnF_C2H2 397 419 1.67e-2 SMART
ZnF_C2H2 425 447 1.33e-1 SMART
ZnF_C2H2 451 474 2.05e-2 SMART
low complexity region 594 610 N/A INTRINSIC
ZnF_C2H2 730 752 1.43e-1 SMART
ZnF_C2H2 758 781 3.52e-1 SMART
ZnF_C2H2 786 810 5.59e-4 SMART
ZnF_C2H2 818 841 3.83e-2 SMART
ZnF_C2H2 868 891 3.95e1 SMART
ZnF_C2H2 897 919 6.88e-4 SMART
ZnF_C2H2 925 947 8.94e-3 SMART
ZnF_C2H2 954 976 2.27e-4 SMART
ZnF_C2H2 982 1005 9.3e-1 SMART
ZnF_C2H2 1029 1052 5.21e-4 SMART
low complexity region 1121 1131 N/A INTRINSIC
low complexity region 1200 1218 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162173
AA Change: F498V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: F498V

DomainStartEndE-ValueType
ZnF_C2H2 12 35 2.45e0 SMART
ZnF_C2H2 116 136 1.53e2 SMART
low complexity region 220 236 N/A INTRINSIC
ZnF_C2H2 271 293 1.47e-3 SMART
ZnF_C2H2 299 321 1.18e-2 SMART
ZnF_C2H2 326 349 2.36e-2 SMART
ZnF_C2H2 354 377 4.4e-2 SMART
ZnF_C2H2 404 426 1.67e-2 SMART
ZnF_C2H2 432 454 1.33e-1 SMART
ZnF_C2H2 458 481 2.05e-2 SMART
low complexity region 601 617 N/A INTRINSIC
ZnF_C2H2 737 759 1.43e-1 SMART
ZnF_C2H2 765 788 3.52e-1 SMART
ZnF_C2H2 793 817 5.59e-4 SMART
ZnF_C2H2 825 848 3.83e-2 SMART
ZnF_C2H2 875 898 3.95e1 SMART
ZnF_C2H2 904 926 6.88e-4 SMART
ZnF_C2H2 932 954 8.94e-3 SMART
ZnF_C2H2 961 983 2.27e-4 SMART
ZnF_C2H2 989 1012 9.3e-1 SMART
ZnF_C2H2 1036 1059 5.21e-4 SMART
low complexity region 1133 1151 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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 protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with failure to initiation of embryo turning, abnormal embryonic hematopoiesis, abnormal spongiotrophoblast layer morphology, abnormal visceral yolk sac blood island morphology and pale yolk sac. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,096,019 (GRCm39) I804T probably benign Het
Abcb1b A T 5: 8,855,441 (GRCm39) E25V probably damaging Het
Adamts9 G T 6: 92,886,774 (GRCm39) Y355* probably null Het
Akp3 A G 1: 87,054,500 (GRCm39) M303V probably benign Het
Ankrd35 A T 3: 96,590,650 (GRCm39) E312V possibly damaging Het
Arhgap40 T C 2: 158,373,294 (GRCm39) probably null Het
Asxl1 T C 2: 153,242,027 (GRCm39) L859P probably benign Het
Atat1 A G 17: 36,220,897 (GRCm39) F11L probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Ccdc7a A T 8: 129,608,075 (GRCm39) H943Q unknown Het
Cep135 A G 5: 76,764,695 (GRCm39) T558A probably benign Het
Cfap99 A G 5: 34,458,863 (GRCm39) E86G possibly damaging Het
Cfhr2 C T 1: 139,758,801 (GRCm39) probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Col17a1 G A 19: 47,640,622 (GRCm39) P992L probably damaging Het
Col7a1 C T 9: 108,792,331 (GRCm39) Q1294* probably null Het
Coq8b T A 7: 26,939,293 (GRCm39) C148S probably damaging Het
Csmd2 A G 4: 128,171,021 (GRCm39) N338S Het
Cspg5 T A 9: 110,075,959 (GRCm39) S232T possibly damaging Het
Cyp2c67 A G 19: 39,628,341 (GRCm39) V201A possibly damaging Het
Dlgap3 G A 4: 127,089,310 (GRCm39) R302H possibly damaging Het
Dpy19l2 T C 9: 24,539,547 (GRCm39) I469V probably benign Het
Fam135b T C 15: 71,343,412 (GRCm39) D401G probably damaging Het
Gabbr1 G T 17: 37,375,629 (GRCm39) G453* probably null Het
Gclc C A 9: 77,695,498 (GRCm39) A440D probably damaging Het
Glyat T C 19: 12,627,723 (GRCm39) I106T probably benign Het
Gm12185 T C 11: 48,799,071 (GRCm39) N474S possibly damaging Het
Gm17079 T C 14: 51,930,494 (GRCm39) H117R Het
Ift70a2 A T 2: 75,806,613 (GRCm39) L633* probably null Het
Ildr2 A G 1: 166,131,098 (GRCm39) D318G probably damaging Het
Kcnd2 G A 6: 21,216,177 (GRCm39) probably benign Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Kif3a G T 11: 53,477,733 (GRCm39) G401* probably null Het
Lactbl1 T A 4: 136,360,286 (GRCm39) L155Q probably damaging Het
Lrp1b T A 2: 41,136,023 (GRCm39) D1649V probably benign Het
Lrrc37 C T 11: 103,505,363 (GRCm39) A26T probably benign Het
Map2k1 A G 9: 64,101,105 (GRCm39) V191A probably benign Het
Mdm4 A T 1: 132,931,547 (GRCm39) C165S probably benign Het
Med27 G A 2: 29,399,446 (GRCm39) W92* probably null Het
Muc20 A T 16: 32,614,616 (GRCm39) S254T probably benign Het
Myh1 A G 11: 67,111,247 (GRCm39) E1562G possibly damaging Het
Nlrp2 C G 7: 5,331,571 (GRCm39) R275P possibly damaging Het
Notch2 T A 3: 98,009,703 (GRCm39) N543K probably damaging Het
Nup214 T A 2: 31,924,168 (GRCm39) S1566T probably benign Het
Nxnl1 T G 8: 72,015,437 (GRCm39) E157A possibly damaging Het
Obscn A G 11: 58,969,959 (GRCm39) L61P probably damaging Het
Ogg1 A T 6: 113,306,237 (GRCm39) I145F probably damaging Het
Or10d5j T C 9: 39,867,641 (GRCm39) T197A probably benign Het
Or2b2 A G 13: 21,887,440 (GRCm39) K90E possibly damaging Het
Or2f1 G A 6: 42,721,337 (GRCm39) R122H probably benign Het
Or51h5 T C 7: 102,577,149 (GRCm39) F105L probably damaging Het
Pclo A G 5: 14,763,461 (GRCm39) D3978G unknown Het
Pla2g4e T G 2: 120,000,676 (GRCm39) D687A probably damaging Het
Pla2r1 T C 2: 60,288,737 (GRCm39) K632E probably damaging Het
Plg A T 17: 12,610,723 (GRCm39) Q212L probably damaging Het
Poldip3 A T 15: 83,015,698 (GRCm39) N306K probably damaging Het
Pspn A G 17: 57,306,978 (GRCm39) L13P possibly damaging Het
Ralgapa1 T C 12: 55,804,844 (GRCm39) E484G probably damaging Het
Rbmxl1 G T 8: 79,233,286 (GRCm39) T19K probably damaging Het
Rora G A 9: 69,103,365 (GRCm39) V31I possibly damaging Het
Skint5 C A 4: 113,798,036 (GRCm39) W182C probably damaging Het
Spata31d1c A T 13: 65,183,877 (GRCm39) Q473L probably damaging Het
Tesk2 G A 4: 116,659,884 (GRCm39) W334* probably null Het
Tmem67 C A 4: 12,075,484 (GRCm39) V277L probably benign Het
Trhde A G 10: 114,354,082 (GRCm39) M537T probably damaging Het
Tubb6 G A 18: 67,534,981 (GRCm39) M293I probably benign Het
Ube2ql1 A T 13: 69,886,873 (GRCm39) L196Q probably damaging Het
Ubn1 A T 16: 4,873,188 (GRCm39) N70I probably damaging Het
Ubtf A T 11: 102,205,806 (GRCm39) S40T probably benign Het
Virma C T 4: 11,519,249 (GRCm39) A782V possibly damaging Het
Xdh G T 17: 74,250,868 (GRCm39) T28K probably damaging Het
Xpo4 A G 14: 57,834,508 (GRCm39) S691P probably benign Het
Zfp623 T G 15: 75,820,154 (GRCm39) V370G probably damaging Het
Other mutations in Zfat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Zfat APN 15 68,042,071 (GRCm39) missense possibly damaging 0.92
IGL00862:Zfat APN 15 68,130,512 (GRCm39) splice site probably null
IGL01021:Zfat APN 15 68,042,015 (GRCm39) missense possibly damaging 0.50
IGL01152:Zfat APN 15 67,982,353 (GRCm39) missense probably damaging 1.00
IGL01733:Zfat APN 15 68,052,579 (GRCm39) missense probably damaging 1.00
IGL01873:Zfat APN 15 68,096,744 (GRCm39) missense probably benign 0.00
IGL01990:Zfat APN 15 68,096,666 (GRCm39) missense probably damaging 1.00
IGL02066:Zfat APN 15 68,052,678 (GRCm39) missense probably damaging 1.00
IGL02664:Zfat APN 15 68,052,570 (GRCm39) missense probably damaging 1.00
IGL02955:Zfat APN 15 68,052,963 (GRCm39) missense probably damaging 0.98
IGL03201:Zfat APN 15 68,037,758 (GRCm39) missense probably damaging 1.00
R0145:Zfat UTSW 15 68,058,948 (GRCm39) missense possibly damaging 0.95
R0408:Zfat UTSW 15 68,052,141 (GRCm39) missense probably benign 0.10
R0633:Zfat UTSW 15 68,052,652 (GRCm39) missense probably damaging 1.00
R1147:Zfat UTSW 15 68,084,432 (GRCm39) splice site probably benign
R1508:Zfat UTSW 15 68,050,600 (GRCm39) missense probably damaging 1.00
R1513:Zfat UTSW 15 68,084,529 (GRCm39) missense probably damaging 1.00
R1641:Zfat UTSW 15 68,051,959 (GRCm39) missense probably benign 0.19
R1889:Zfat UTSW 15 67,973,388 (GRCm39) missense probably benign 0.00
R1959:Zfat UTSW 15 68,018,392 (GRCm39) missense probably benign 0.32
R2030:Zfat UTSW 15 67,990,783 (GRCm39) critical splice donor site probably null
R2202:Zfat UTSW 15 68,051,709 (GRCm39) missense probably benign 0.36
R2340:Zfat UTSW 15 67,973,390 (GRCm39) missense probably damaging 0.99
R3440:Zfat UTSW 15 67,956,402 (GRCm39) missense probably benign 0.00
R3442:Zfat UTSW 15 67,973,430 (GRCm39) missense probably damaging 0.99
R3442:Zfat UTSW 15 67,956,402 (GRCm39) missense probably benign 0.00
R4406:Zfat UTSW 15 68,052,040 (GRCm39) missense probably benign 0.00
R4649:Zfat UTSW 15 68,056,325 (GRCm39) missense probably damaging 1.00
R4710:Zfat UTSW 15 68,052,131 (GRCm39) missense probably benign
R4712:Zfat UTSW 15 67,982,324 (GRCm39) critical splice donor site probably null
R4745:Zfat UTSW 15 68,052,223 (GRCm39) missense probably benign 0.09
R4862:Zfat UTSW 15 68,051,959 (GRCm39) missense probably benign 0.02
R5015:Zfat UTSW 15 68,050,762 (GRCm39) missense probably damaging 1.00
R5075:Zfat UTSW 15 68,052,079 (GRCm39) missense probably benign
R5208:Zfat UTSW 15 68,052,570 (GRCm39) missense probably damaging 1.00
R5277:Zfat UTSW 15 68,037,758 (GRCm39) missense probably damaging 1.00
R5303:Zfat UTSW 15 67,982,335 (GRCm39) missense probably damaging 1.00
R5328:Zfat UTSW 15 68,051,677 (GRCm39) missense probably damaging 0.99
R5642:Zfat UTSW 15 68,052,765 (GRCm39) missense probably damaging 1.00
R5659:Zfat UTSW 15 67,990,862 (GRCm39) missense probably damaging 1.00
R5947:Zfat UTSW 15 68,051,806 (GRCm39) missense probably benign
R6046:Zfat UTSW 15 68,052,626 (GRCm39) missense probably damaging 0.99
R6315:Zfat UTSW 15 67,956,311 (GRCm39) missense probably damaging 1.00
R6342:Zfat UTSW 15 68,052,831 (GRCm39) missense probably damaging 1.00
R6573:Zfat UTSW 15 68,037,703 (GRCm39) missense probably damaging 1.00
R6789:Zfat UTSW 15 67,956,235 (GRCm39) missense probably damaging 1.00
R7033:Zfat UTSW 15 68,052,864 (GRCm39) missense probably damaging 1.00
R7039:Zfat UTSW 15 68,052,211 (GRCm39) missense probably benign
R7065:Zfat UTSW 15 68,052,969 (GRCm39) missense probably damaging 1.00
R7144:Zfat UTSW 15 68,050,631 (GRCm39) missense probably benign 0.12
R7208:Zfat UTSW 15 68,051,856 (GRCm39) missense probably benign 0.39
R7330:Zfat UTSW 15 68,084,600 (GRCm39) missense probably benign 0.00
R7345:Zfat UTSW 15 67,976,892 (GRCm39) missense probably damaging 1.00
R7378:Zfat UTSW 15 68,052,969 (GRCm39) missense probably damaging 1.00
R7405:Zfat UTSW 15 68,056,334 (GRCm39) missense probably damaging 1.00
R7481:Zfat UTSW 15 68,050,715 (GRCm39) nonsense probably null
R7672:Zfat UTSW 15 68,130,535 (GRCm39) start codon destroyed probably null 0.39
R7676:Zfat UTSW 15 68,096,693 (GRCm39) missense possibly damaging 0.88
R7701:Zfat UTSW 15 68,052,757 (GRCm39) nonsense probably null
R7825:Zfat UTSW 15 68,051,769 (GRCm39) missense probably benign 0.01
R8152:Zfat UTSW 15 67,973,355 (GRCm39) missense probably benign 0.23
R8404:Zfat UTSW 15 67,976,916 (GRCm39) missense probably benign 0.00
R8405:Zfat UTSW 15 68,018,410 (GRCm39) missense probably damaging 1.00
R8502:Zfat UTSW 15 67,976,916 (GRCm39) missense probably benign 0.00
R8534:Zfat UTSW 15 68,037,696 (GRCm39) missense probably damaging 1.00
R8708:Zfat UTSW 15 67,956,278 (GRCm39) missense possibly damaging 0.95
R8887:Zfat UTSW 15 68,056,315 (GRCm39) missense probably damaging 1.00
R8896:Zfat UTSW 15 68,052,519 (GRCm39) missense probably damaging 1.00
R8906:Zfat UTSW 15 67,956,404 (GRCm39) missense possibly damaging 0.81
R9117:Zfat UTSW 15 68,058,918 (GRCm39) missense probably damaging 0.98
R9137:Zfat UTSW 15 68,051,794 (GRCm39) missense probably benign 0.00
R9310:Zfat UTSW 15 67,956,250 (GRCm39) missense probably damaging 1.00
R9482:Zfat UTSW 15 68,084,652 (GRCm39) missense probably damaging 1.00
R9610:Zfat UTSW 15 68,051,655 (GRCm39) missense possibly damaging 0.58
R9611:Zfat UTSW 15 68,051,655 (GRCm39) missense possibly damaging 0.58
R9630:Zfat UTSW 15 67,990,793 (GRCm39) missense probably benign 0.37
Z1088:Zfat UTSW 15 68,058,950 (GRCm39) missense probably benign 0.00
Z1177:Zfat UTSW 15 68,051,677 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAGGGAACTACTTTCACTCTGGG -3'
(R):5'- ATGGGGCCACTAAGTACCAG -3'

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