Incidental Mutation 'R6046:Zfat'
ID 483322
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 044214-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6046 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 67955613-68130705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 68052626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 389 (D389E)
Ref Sequence ENSEMBL: ENSMUSP00000125257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159430] [ENSMUST00000160248] [ENSMUST00000162054] [ENSMUST00000162173]
AlphaFold Q7TS63
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159430
SMART Domains Protein: ENSMUSP00000124420
Gene: ENSMUSG00000022335

DomainStartEndE-ValueType
ZnF_C2H2 12 35 2.45e0 SMART
ZnF_C2H2 116 136 1.53e2 SMART
low complexity region 158 174 N/A INTRINSIC
ZnF_C2H2 209 231 1.47e-3 SMART
ZnF_C2H2 237 259 1.18e-2 SMART
ZnF_C2H2 264 287 2.36e-2 SMART
ZnF_C2H2 292 315 4.4e-2 SMART
ZnF_C2H2 342 364 1.67e-2 SMART
ZnF_C2H2 370 392 1.33e-1 SMART
ZnF_C2H2 396 419 2.05e-2 SMART
low complexity region 539 555 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160248
AA Change: D389E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: D389E

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 possibly damaging
Transcript: ENSMUST00000162054
AA Change: D382E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: D382E

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 possibly damaging
Transcript: ENSMUST00000162173
AA Change: D389E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: D389E

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
Meta Mutation Damage Score 0.1735 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (78/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T C 10: 85,223,947 (GRCm39) V252A unknown Het
Actn4 T C 7: 28,604,044 (GRCm39) I406V probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Ank1 T A 8: 23,606,114 (GRCm39) F1124I probably damaging Het
Arhgap44 CTGCT CTGCTTGCT 11: 64,922,910 (GRCm39) probably null Het
Atp9a C A 2: 168,476,790 (GRCm39) V1000L probably benign Het
Bnip3 A G 7: 138,511,033 (GRCm39) probably benign Het
Btnl6 T A 17: 34,727,371 (GRCm39) R386S probably damaging Het
Calcrl A G 2: 84,205,658 (GRCm39) V11A probably benign Het
Cc2d1a G T 8: 84,863,571 (GRCm39) A597D possibly damaging Het
Celsr3 A G 9: 108,714,350 (GRCm39) T1960A probably benign Het
Cfb T A 17: 35,081,078 (GRCm39) probably null Het
Chd8 A G 14: 52,458,528 (GRCm39) I860T possibly damaging Het
Col28a1 A G 6: 8,168,102 (GRCm39) probably null Het
Crhr2 T A 6: 55,068,277 (GRCm39) T428S probably damaging Het
Crybg2 A T 4: 133,819,388 (GRCm39) I1753F probably damaging Het
Ctsq A T 13: 61,186,955 (GRCm39) V46E probably benign Het
Cxcr1 T C 1: 74,231,440 (GRCm39) E194G probably damaging Het
Dop1a A T 9: 86,397,396 (GRCm39) H900L probably damaging Het
Dpyd T A 3: 119,225,224 (GRCm39) M999K probably benign Het
Gbp3 A C 3: 142,273,560 (GRCm39) D369A possibly damaging Het
Glmp A G 3: 88,232,495 (GRCm39) E36G probably damaging Het
Gm10113 T C 13: 46,330,919 (GRCm39) noncoding transcript Het
Gm6486 T A 5: 3,120,846 (GRCm39) noncoding transcript Het
Gm973 T G 1: 59,671,509 (GRCm39) L891R unknown Het
Heatr3 C T 8: 88,866,582 (GRCm39) T8M probably damaging Het
Herc1 A G 9: 66,352,831 (GRCm39) M2106V probably damaging Het
Hfm1 A T 5: 107,046,509 (GRCm39) probably null Het
Hspa14 A G 2: 3,490,801 (GRCm39) V462A possibly damaging Het
Hspa5 C A 2: 34,665,761 (GRCm39) T535K possibly damaging Het
Ift140 A G 17: 25,274,563 (GRCm39) D745G probably benign Het
Ift27 A T 15: 78,057,981 (GRCm39) C8S possibly damaging Het
Irak1bp1 G A 9: 82,728,616 (GRCm39) W182* probably null Het
Itga3 A G 11: 94,953,541 (GRCm39) I236T probably benign Het
Kctd15 T A 7: 34,349,547 (GRCm39) N26Y possibly damaging Het
Kdm1b T C 13: 47,232,729 (GRCm39) V733A possibly damaging Het
Lhx8 A T 3: 154,027,340 (GRCm39) L234H probably damaging Het
Lrp2 T A 2: 69,337,098 (GRCm39) T1225S probably damaging Het
Lrrn1 G A 6: 107,545,488 (GRCm39) D429N probably benign Het
Mettl3 A T 14: 52,536,243 (GRCm39) N200K possibly damaging Het
Mixl1 G T 1: 180,524,336 (GRCm39) A81D possibly damaging Het
Mroh2b T C 15: 4,980,763 (GRCm39) I1444T probably benign Het
Muc15 T A 2: 110,561,786 (GRCm39) L74* probably null Het
Olfm2 T A 9: 20,579,824 (GRCm39) Y317F probably damaging Het
Or52a33 C T 7: 103,288,886 (GRCm39) V154M probably benign Het
Or5b114-ps1 G A 19: 13,352,698 (GRCm39) S124N probably benign Het
Or5p54 T A 7: 107,554,001 (GRCm39) I51N probably benign Het
Pclo A T 5: 14,763,302 (GRCm39) Y3925F unknown Het
Pik3c2g A T 6: 139,599,137 (GRCm39) R84S probably damaging Het
Pik3c2g A G 6: 139,842,518 (GRCm39) Q449R probably damaging Het
Psg28 T C 7: 18,160,305 (GRCm39) E297G probably damaging Het
Qrich2 A T 11: 116,337,832 (GRCm39) probably benign Het
Rgs9 A G 11: 109,130,386 (GRCm39) I363T probably damaging Het
Rnpepl1 A G 1: 92,844,543 (GRCm39) D345G probably damaging Het
Rtn4 T A 11: 29,658,023 (GRCm39) F726I probably damaging Het
Sart3 A T 5: 113,893,507 (GRCm39) I330N probably damaging Het
Scn5a T C 9: 119,391,440 (GRCm39) D84G probably damaging Het
Sema4a T C 3: 88,348,008 (GRCm39) T438A probably damaging Het
Sfxn1 A C 13: 54,242,961 (GRCm39) Y73S probably benign Het
Slc24a2 A G 4: 86,914,882 (GRCm39) M585T probably damaging Het
Slc26a7 A G 4: 14,505,471 (GRCm39) V656A probably benign Het
Smok2a T G 17: 13,445,021 (GRCm39) D199E probably benign Het
Tbc1d10c T C 19: 4,235,030 (GRCm39) I344V probably benign Het
Tll1 A T 8: 64,506,925 (GRCm39) Y605* probably null Het
Trim75 G A 8: 65,435,535 (GRCm39) P305L probably damaging Het
Unc13c T C 9: 73,838,166 (GRCm39) N895S probably benign Het
Vmn2r25 A T 6: 123,799,876 (GRCm39) I822N probably damaging Het
Wasf3 T G 5: 146,407,166 (GRCm39) D495E unknown Het
Wdhd1 T A 14: 47,510,667 (GRCm39) K119* probably null Het
Wnt2b T A 3: 104,858,339 (GRCm39) D310V probably damaging Het
Zfp282 G A 6: 47,857,102 (GRCm39) V112M probably damaging Het
Zfp617 A T 8: 72,687,257 (GRCm39) K529I probably damaging Het
Zfp866 A T 8: 70,218,373 (GRCm39) C416S probably damaging Het
Zfp991 G A 4: 147,264,222 (GRCm39) G533D probably benign 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
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
R7028:Zfat UTSW 15 68,052,301 (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'- GCTTTCGGACATGCAGTTCC -3'
(R):5'- CACACCGGAGAGAAATTCGC -3'

Sequencing Primer
(F):5'- ACATGCAGTTCCAGGGC -3'
(R):5'- CGGAGAGAAATTCGCCTGCG -3'
Posted On 2017-07-14