Incidental Mutation 'R0633:Zfat'
ID 58104
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 038822-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0633 (G1)
Quality Score 188
Status Not validated
Chromosome 15
Chromosomal Location 67955613-68130705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 68052652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 381 (D381Y)
Ref Sequence ENSEMBL: ENSMUSP00000124974 (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: D381Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: D381Y

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: D374Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: D374Y

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: D381Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: D381Y

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 A T 9: 30,854,807 (GRCm39) R18S probably damaging Het
Adgb G A 10: 10,267,473 (GRCm39) A923V probably benign Het
Aldh1a3 A G 7: 66,049,970 (GRCm39) V416A probably damaging Het
Alox5 C T 6: 116,397,345 (GRCm39) G280R probably damaging Het
Anapc5 A T 5: 122,938,695 (GRCm39) Y360N probably damaging Het
Apbb1 C T 7: 105,208,170 (GRCm39) V685I probably damaging Het
Apc2 C A 10: 80,143,289 (GRCm39) A463E probably damaging Het
Arhgap21 C T 2: 20,860,198 (GRCm39) W1170* probably null Het
Atat1 G A 17: 36,212,315 (GRCm39) R305C probably damaging Het
Brd8dc A G 18: 34,719,319 (GRCm39) V167A possibly damaging Het
Cars2 T C 8: 11,600,511 (GRCm39) D56G probably benign Het
Ccdc202 T G 14: 96,119,379 (GRCm39) N45K probably damaging Het
Cdc42bpb T C 12: 111,311,989 (GRCm39) I108V probably damaging Het
Cftr T A 6: 18,305,979 (GRCm39) I1255K probably damaging Het
Ckap5 T C 2: 91,381,088 (GRCm39) L148P probably damaging Het
Cntn4 A G 6: 106,656,209 (GRCm39) probably null Het
Cpe G A 8: 65,062,237 (GRCm39) P273L probably damaging Het
Cpsf7 A G 19: 10,509,146 (GRCm39) D19G probably benign Het
Ddx25 C A 9: 35,457,268 (GRCm39) R349L probably damaging Het
Depdc7 T C 2: 104,553,226 (GRCm39) D446G probably benign Het
Det1 T A 7: 78,493,683 (GRCm39) N107I probably benign Het
Dock6 A T 9: 21,755,713 (GRCm39) D170E probably benign Het
Dvl1 C T 4: 155,942,752 (GRCm39) L673F probably damaging Het
Gucy1b1 A T 3: 81,952,767 (GRCm39) I222K probably benign Het
Hfm1 T C 5: 107,065,467 (GRCm39) T71A possibly damaging Het
Ikzf1 A G 11: 11,719,223 (GRCm39) E310G probably damaging Het
Impg1 T C 9: 80,301,437 (GRCm39) E163G possibly damaging Het
Itpr2 G T 6: 146,275,954 (GRCm39) H426Q probably damaging Het
Itpripl2 C T 7: 118,089,479 (GRCm39) G360D probably benign Het
Kif14 C T 1: 136,455,043 (GRCm39) R1572C probably damaging Het
L3mbtl3 A T 10: 26,178,583 (GRCm39) H568Q unknown Het
Lgi2 A G 5: 52,711,802 (GRCm39) Y173H probably damaging Het
Lpar5 A C 6: 125,058,954 (GRCm39) Y225S probably benign Het
Lpin3 A G 2: 160,745,894 (GRCm39) H675R probably damaging Het
Lrp2 C A 2: 69,278,464 (GRCm39) G3963V probably damaging Het
Man1a2 G T 3: 100,591,891 (GRCm39) D13E possibly damaging Het
Map1a T C 2: 121,138,495 (GRCm39) V2753A probably damaging Het
Mitf C A 6: 97,980,865 (GRCm39) N97K probably damaging Het
Msh2 A G 17: 87,980,238 (GRCm39) probably null Het
Msr1 T C 8: 40,073,041 (GRCm39) E170G probably damaging Het
Myrip C A 9: 120,217,302 (GRCm39) R79S probably damaging Het
Nek10 G A 14: 14,857,782 (GRCm38) probably null Het
Neto1 C T 18: 86,422,854 (GRCm39) R104* probably null Het
Nom1 A C 5: 29,656,098 (GRCm39) K821T probably damaging Het
Nrxn1 A G 17: 91,011,609 (GRCm39) V340A probably damaging Het
Nxpe4 A T 9: 48,307,897 (GRCm39) I334F probably benign Het
Or1e23 A G 11: 73,407,753 (GRCm39) S91P probably benign Het
Or2ag1 T C 7: 106,313,184 (GRCm39) K235E probably benign Het
Or4a74 T C 2: 89,439,718 (GRCm39) M243V probably benign Het
Or5al7 T A 2: 85,992,435 (GRCm39) N286I probably damaging Het
Or5b124 T C 19: 13,610,700 (GRCm39) V75A probably damaging Het
Or8k27 C T 2: 86,275,473 (GRCm39) M284I probably benign Het
Padi4 A G 4: 140,484,896 (GRCm39) S322P probably damaging Het
Peli3 A G 19: 4,991,810 (GRCm39) Y44H probably damaging Het
Prdm4 A G 10: 85,743,767 (GRCm39) S163P probably damaging Het
Prom2 T C 2: 127,381,445 (GRCm39) D227G probably benign Het
Ptgfr C T 3: 151,507,400 (GRCm39) R321H probably benign Het
Resf1 A T 6: 149,227,199 (GRCm39) I82L probably benign Het
Rgs3 G A 4: 62,544,143 (GRCm39) R136H probably damaging Het
Rgsl1 T G 1: 153,719,853 (GRCm39) N3T possibly damaging Het
Rif1 T C 2: 52,002,575 (GRCm39) S2010P probably benign Het
Rngtt T C 4: 33,368,690 (GRCm39) F408L probably damaging Het
Rtn3 T G 19: 7,434,958 (GRCm39) T326P probably benign Het
Slc18b1 A C 10: 23,681,936 (GRCm39) M167L probably benign Het
Slc22a26 A G 19: 7,765,575 (GRCm39) probably null Het
Slitrk6 T C 14: 110,989,317 (GRCm39) D130G probably damaging Het
Snap47 A G 11: 59,319,439 (GRCm39) V233A probably benign Het
Sumf1 A C 6: 108,121,632 (GRCm39) Y158D probably damaging Het
Tbc1d15 A T 10: 115,056,215 (GRCm39) H252Q probably benign Het
Thsd7b T C 1: 130,116,263 (GRCm39) S1339P possibly damaging Het
Tmem45a2 T C 16: 56,869,777 (GRCm39) I56V probably benign Het
Ttc21b A G 2: 66,066,577 (GRCm39) S359P probably benign Het
Ttc27 T C 17: 75,036,972 (GRCm39) I215T probably benign Het
Ttn C T 2: 76,554,539 (GRCm39) V30759I possibly damaging Het
Vdac3 T C 8: 23,070,404 (GRCm39) N168S probably damaging Het
Wdr7 T C 18: 63,998,371 (GRCm39) V1106A probably benign Het
Wrap73 T A 4: 154,226,948 (GRCm39) F16Y 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
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
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'- ACACAAAGGGGTGCTTTCGGAC -3'
(R):5'- GGAGAGAAATTCGCCTGCGACTAC -3'

Sequencing Primer
(F):5'- TTCGGACATGCAGTTCCAG -3'
(R):5'- GCCTGCGACTACTGCTC -3'
Posted On 2013-07-11