Incidental Mutation 'R5303:Zfat'
ID 404376
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 042886-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5303 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 67955613-68130705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 67982335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1059 (H1059Q)
Ref Sequence ENSEMBL: ENSMUSP00000124974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160248] [ENSMUST00000162054] [ENSMUST00000162173]
AlphaFold Q7TS63
Predicted Effect probably damaging
Transcript: ENSMUST00000160248
AA Change: H1059Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: H1059Q

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: H1052Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: H1052Q

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: H1059Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: H1059Q

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 0.1305 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (63/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C G 3: 124,199,999 (GRCm39) G531A probably damaging Het
4921504E06Rik A G 2: 19,521,110 (GRCm39) Y256H possibly damaging Het
Abcc12 C A 8: 87,236,415 (GRCm39) R1133L probably benign Het
Acss3 T A 10: 106,920,712 (GRCm39) T133S possibly damaging Het
Adra1d G A 2: 131,388,169 (GRCm39) P462L possibly damaging Het
Ank2 A T 3: 126,739,453 (GRCm39) probably benign Het
Arid2 G A 15: 96,290,349 (GRCm39) R1748Q probably damaging Het
B3glct C T 5: 149,677,488 (GRCm39) probably benign Het
C3ar1 A T 6: 122,826,794 (GRCm39) S474R probably damaging Het
Cd1d1 A G 3: 86,905,427 (GRCm39) F189L probably benign Het
Cd46 T C 1: 194,744,707 (GRCm39) I344V probably benign Het
Chrna1 T C 2: 73,396,618 (GRCm39) M426V probably benign Het
Cinp G A 12: 110,843,295 (GRCm39) T139M probably damaging Het
Cplane1 G A 15: 8,290,174 (GRCm39) probably null Het
Disp2 T C 2: 118,641,329 (GRCm39) probably benign Het
Dnaaf6rt G A 1: 31,262,537 (GRCm39) R173H probably damaging Het
Eapp G A 12: 54,739,703 (GRCm39) P38L probably damaging Het
Eif4g3 T C 4: 137,853,873 (GRCm39) S480P probably benign Het
Epb41l3 G C 17: 69,564,444 (GRCm39) E390Q probably damaging Het
Fermt1 T C 2: 132,753,259 (GRCm39) probably null Het
Foxf2 T A 13: 31,810,463 (GRCm39) F134Y possibly damaging Het
Foxp2 T A 6: 15,324,636 (GRCm39) C95S probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gria1 A G 11: 57,133,851 (GRCm39) T577A probably benign Het
Hal A G 10: 93,352,227 (GRCm39) probably benign Het
Hdac7 C A 15: 97,695,899 (GRCm39) E670D probably damaging Het
Islr2 A T 9: 58,115,558 (GRCm39) probably benign Het
Itpr3 T C 17: 27,335,663 (GRCm39) Y2258H probably benign Het
Mical3 G T 6: 120,936,941 (GRCm39) T1195K probably benign Het
Myh1 T C 11: 67,092,843 (GRCm39) S46P probably benign Het
Mylk3 T A 8: 86,077,105 (GRCm39) I444F probably damaging Het
Nlrc3 A T 16: 3,781,478 (GRCm39) C644S probably benign Het
Notch1 C T 2: 26,368,631 (GRCm39) V553M probably benign Het
Or10g9 A G 9: 39,911,884 (GRCm39) I213T probably damaging Het
Or4a72 T A 2: 89,405,345 (GRCm39) I242F possibly damaging Het
Or51a43 T C 7: 103,718,239 (GRCm39) probably benign Het
Or5b102 T A 19: 13,041,139 (GRCm39) Y121* probably null Het
Postn A G 3: 54,285,018 (GRCm39) T669A probably damaging Het
Ppp5c G T 7: 16,739,209 (GRCm39) Q472K probably benign Het
Qsox1 T C 1: 155,655,039 (GRCm39) H708R probably benign Het
Rhbdl2 A G 4: 123,704,014 (GRCm39) probably benign Het
Ryr1 C T 7: 28,767,907 (GRCm39) E2884K probably damaging Het
Saysd1 T C 14: 20,133,026 (GRCm39) T44A probably benign Het
Septin14 T A 5: 129,766,712 (GRCm39) M290L possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc38a8 C A 8: 120,212,780 (GRCm39) V294L possibly damaging Het
Spdye4b C T 5: 143,188,158 (GRCm39) T217I probably benign Het
Sugp2 T A 8: 70,694,827 (GRCm39) probably benign Het
Syne1 T C 10: 5,370,464 (GRCm39) T232A probably benign Het
Tbc1d5 A T 17: 51,043,228 (GRCm39) D753E probably benign Het
Tmed1 G T 9: 21,421,343 (GRCm39) Q44K possibly damaging Het
Ttc6 T A 12: 57,622,606 (GRCm39) S2T possibly damaging Het
Ube4b T C 4: 149,468,260 (GRCm39) D172G probably damaging Het
Vmn1r235 C A 17: 21,482,268 (GRCm39) Q198K probably benign Het
Wdfy3 T C 5: 102,100,849 (GRCm39) H256R probably damaging Het
Zfp758 A G 17: 22,593,842 (GRCm39) I77M probably benign Het
Zfp850 C T 7: 27,707,838 (GRCm39) A2T probably damaging Het
Zfyve1 A T 12: 83,621,830 (GRCm39) N188K probably damaging Het
Zyg11a C T 4: 108,041,629 (GRCm39) probably null 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
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'- AATGGCTGCCGAGGATTTCC -3'
(R):5'- GGCTGCTGTTGTATTCCAATAC -3'

Sequencing Primer
(F):5'- GCTGCCGAGGATTTCCAAGAAAC -3'
(R):5'- GCTGCTGTTGTATTCCAATACTAAGG -3'
Posted On 2016-07-22