Incidental Mutation 'R0145:Zfat'
ID 22595
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 038430-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0145 (G1) of strain 722
Quality Score 212
Status Validated (trace)
Chromosome 15
Chromosomal Location 67955613-68130705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68058948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 196 (K196E)
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 possibly damaging
Transcript: ENSMUST00000160248
AA Change: K196E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: K196E

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: K189E

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: K189E

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: K196E

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: K196E

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 0.0823 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 93.7%
  • 20x: 82.1%
Validation Efficiency 96% (109/113)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,437,783 (GRCm39) E64G probably damaging Het
Actr6 A T 10: 89,564,040 (GRCm39) Y77* probably null Het
Aldoart1 A T 4: 72,769,576 (GRCm39) S411T probably benign Het
Aqp1 C T 6: 55,323,672 (GRCm39) R234C probably damaging Het
Arsb G A 13: 93,998,795 (GRCm39) G368R possibly damaging Het
Asxl3 G A 18: 22,586,662 (GRCm39) A151T probably damaging Het
Bcas3 T C 11: 85,250,436 (GRCm39) probably benign Het
Bmpr2 AACACA AACA 1: 59,906,739 (GRCm39) probably null Het
Bst1 A G 5: 43,976,414 (GRCm39) Y49C probably damaging Het
Btrc T A 19: 45,411,612 (GRCm39) L12Q probably damaging Het
Cd248 T C 19: 5,119,051 (GRCm39) F300L possibly damaging Het
Cdk11b G T 4: 155,726,076 (GRCm39) probably benign Het
Cfap410 T C 10: 77,819,390 (GRCm39) S196P probably benign Het
Cfap44 A T 16: 44,288,735 (GRCm39) D1495V probably damaging Het
Chil3 T A 3: 106,067,794 (GRCm39) I124F probably damaging Het
Cnot2 A T 10: 116,353,273 (GRCm39) S63T possibly damaging Het
Cox8a G T 19: 7,192,783 (GRCm39) H61N probably benign Het
Cpne9 T C 6: 113,277,562 (GRCm39) V427A probably damaging Het
Ctsll3 C A 13: 60,946,409 (GRCm39) G301C probably damaging Het
Cubn T A 2: 13,311,243 (GRCm39) D3094V probably damaging Het
Cyba A T 8: 123,153,977 (GRCm39) M65K possibly damaging Het
Cyp4f39 T A 17: 32,705,934 (GRCm39) S342T possibly damaging Het
Daam2 T C 17: 49,787,806 (GRCm39) I436V probably benign Het
Daglb T C 5: 143,460,363 (GRCm39) probably benign Het
Dnah7b T G 1: 46,262,338 (GRCm39) L2067R probably damaging Het
Ep300 T C 15: 81,500,328 (GRCm39) probably null Het
Esm1 A G 13: 113,353,230 (GRCm39) N171D probably damaging Het
Fbxl2 T C 9: 113,814,393 (GRCm39) E266G probably damaging Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Hacd3 A T 9: 64,911,524 (GRCm39) probably benign Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lct T C 1: 128,255,632 (GRCm39) M137V probably benign Het
Lilrb4b T G 10: 51,360,614 (GRCm39) N176K probably benign Het
Macf1 T A 4: 123,281,190 (GRCm39) H4340L probably damaging Het
Mcidas A G 13: 113,130,906 (GRCm39) D77G probably damaging Het
Mmrn1 C A 6: 60,949,994 (GRCm39) Q315K probably damaging Het
Mon2 C A 10: 122,849,417 (GRCm39) L1294F possibly damaging Het
Muc5ac A G 7: 141,349,012 (GRCm39) T483A possibly damaging Het
Nacc1 T C 8: 85,401,504 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ngef A G 1: 87,468,370 (GRCm39) probably benign Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Ogfod3 A T 11: 121,085,896 (GRCm39) probably benign Het
Or6c8 A T 10: 128,915,232 (GRCm39) V200E probably damaging Het
Or8i2 A C 2: 86,852,134 (GRCm39) Y251* probably null Het
Parpbp T C 10: 87,928,871 (GRCm39) Y523C possibly damaging Het
Pik3cg C A 12: 32,254,321 (GRCm39) L555F probably benign Het
Pkp3 T G 7: 140,669,676 (GRCm39) probably null Het
Pole G T 5: 110,472,291 (GRCm39) R1518L probably damaging Het
Prkab1 T C 5: 116,156,144 (GRCm39) probably benign Het
Prrc2a T C 17: 35,374,796 (GRCm39) T1285A probably benign Het
Pus1 C A 5: 110,922,720 (GRCm39) V222L probably benign Het
Rab11fip1 A G 8: 27,633,352 (GRCm39) L1118P probably damaging Het
Ranbp2 T A 10: 58,315,868 (GRCm39) I2196N probably damaging Het
Rims3 T C 4: 120,744,223 (GRCm39) L151P probably damaging Het
Rnf130 A G 11: 49,962,046 (GRCm39) D164G possibly damaging Het
Rps6ka2 C A 17: 7,529,585 (GRCm39) L293I probably benign Het
Ruvbl1 A G 6: 88,461,441 (GRCm39) T269A possibly damaging Het
Sema4a A T 3: 88,358,729 (GRCm39) I10N probably damaging Het
Serpinb6e A T 13: 34,025,043 (GRCm39) S83T probably benign Het
Slc12a9 C A 5: 137,313,550 (GRCm39) W803L probably damaging Het
Slc3a2 A G 19: 8,685,437 (GRCm39) S188P probably damaging Het
Slc7a13 G A 4: 19,818,782 (GRCm39) probably benign Het
Spart A T 3: 55,035,092 (GRCm39) K493* probably null Het
Spata31e2 A G 1: 26,726,413 (GRCm39) M32T probably benign Het
Sun1 T C 5: 139,227,166 (GRCm39) V574A probably damaging Het
Supt6 A G 11: 78,099,062 (GRCm39) V1603A probably benign Het
Tgm5 A G 2: 120,908,062 (GRCm39) V38A possibly damaging Het
Tm6sf2 T C 8: 70,530,518 (GRCm39) probably benign Het
Tnfaip2 T A 12: 111,412,292 (GRCm39) V231E possibly damaging Het
Tube1 T A 10: 39,021,598 (GRCm39) M281K possibly damaging Het
Tubgcp3 A G 8: 12,707,561 (GRCm39) Y143H probably benign Het
Tyrp1 A G 4: 80,759,015 (GRCm39) Y296C probably damaging Het
Utp4 A G 8: 107,621,301 (GRCm39) N26S probably benign Het
Vgf T A 5: 137,060,336 (GRCm39) probably benign Het
Zfp366 G T 13: 99,366,048 (GRCm39) S403I probably damaging Het
Zfp462 G A 4: 55,010,529 (GRCm39) G832R probably damaging Het
Zfp955a T A 17: 33,461,430 (GRCm39) Q234L probably damaging Het
Zup1 T C 10: 33,819,709 (GRCm39) T202A 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
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
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'- GAGGCACAGAAGGGACTGTTCTTG -3'
(R):5'- CGGAGGCATCTCCTTTGCTATCAC -3'

Sequencing Primer
(F):5'- CAGAAGGGACTGTTCTTGCATAC -3'
(R):5'- CTATCACCTCTGGTAAGAGGC -3'
Posted On 2013-04-16