Incidental Mutation 'R7672:Zfat'
ID 592260
Institutional Source Beutler Lab
Gene Symbol Zfat
Ensembl Gene ENSMUSG00000022335
Gene Name zinc finger and AT hook domain containing
Synonyms LOC380993, Zfp406, Zfat1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 67955613-68130705 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 68130535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000125257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160248] [ENSMUST00000162054] [ENSMUST00000162173]
AlphaFold Q7TS63
Predicted Effect probably null
Transcript: ENSMUST00000160248
AA Change: M1V

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: M1V

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 null
Transcript: ENSMUST00000162054
AA Change: M1V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: M1V

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 null
Transcript: ENSMUST00000162173
AA Change: M1V

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: M1V

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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,836,191 (GRCm39) H134R probably damaging Het
Adcy4 A G 14: 56,018,362 (GRCm39) M195T probably benign Het
Aktip T C 8: 91,856,285 (GRCm39) N64S possibly damaging Het
Aldoart1 C A 4: 72,770,747 (GRCm39) M20I probably benign Het
Alms1 T C 6: 85,592,333 (GRCm39) L395P probably damaging Het
Ankrd9 C A 12: 110,943,180 (GRCm39) V252F probably benign Het
Apof A T 10: 128,104,885 (GRCm39) H13L probably benign Het
Bahcc1 T C 11: 120,174,172 (GRCm39) F1644S possibly damaging Het
Baz2a A G 10: 127,959,726 (GRCm39) D1377G possibly damaging Het
Bbox1 T A 2: 110,135,794 (GRCm39) I62F probably damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TCTGTGGTCACTGGT TCTGTGGTCACTGGTGCTGTGGTCACTGGT 3: 95,795,487 (GRCm39) probably benign Het
BC028528 GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG 3: 95,795,455 (GRCm39) probably benign Het
Bcas3 C T 11: 85,286,213 (GRCm39) R124* probably null Het
Bpnt1 T C 1: 185,078,879 (GRCm39) V114A probably damaging Het
Ccnd1 C T 7: 144,487,793 (GRCm39) R228H possibly damaging Het
Cd244a T C 1: 171,404,853 (GRCm39) V235A probably benign Het
Cramp1 C T 17: 25,201,440 (GRCm39) E681K probably damaging Het
Crebbp C T 16: 3,902,574 (GRCm39) A2222T probably benign Het
Cyp1a2 T A 9: 57,589,620 (GRCm39) T65S probably benign Het
Cyp26b1 T G 6: 84,561,351 (GRCm39) K104Q probably benign Het
D430041D05Rik T C 2: 104,071,581 (GRCm39) I556V probably benign Het
Dnase1l2 A G 17: 24,661,219 (GRCm39) L102P probably damaging Het
Eef1ece2 C A 16: 20,457,417 (GRCm39) A483E probably damaging Het
Elac1 C T 18: 73,871,925 (GRCm39) G357S probably benign Het
Enam C A 5: 88,651,830 (GRCm39) T1113N possibly damaging Het
Eogt A T 6: 97,090,870 (GRCm39) I423N probably damaging Het
Epc2 T C 2: 49,435,831 (GRCm39) S612P possibly damaging Het
Fam107b T C 2: 3,773,959 (GRCm39) V24A probably damaging Het
Fhip2a A G 19: 57,373,750 (GRCm39) H670R possibly damaging Het
Foxj3 C T 4: 119,477,429 (GRCm39) P413L unknown Het
Frg1 T C 8: 41,870,040 (GRCm39) probably benign Het
Fsip2 T A 2: 82,820,455 (GRCm39) V5396D possibly damaging Het
Hdlbp T C 1: 93,364,821 (GRCm39) T149A possibly damaging Het
Heatr1 A T 13: 12,453,545 (GRCm39) Q2140L probably damaging Het
Iqcd T C 5: 120,744,881 (GRCm39) L403P probably damaging Het
Kifbp A G 10: 62,413,852 (GRCm39) I102T probably benign Het
Kpna2 T G 11: 106,879,789 (GRCm39) N505T probably benign Het
Lipo3 T A 19: 33,757,785 (GRCm39) E228V probably benign Het
Map4k3 C T 17: 80,922,500 (GRCm39) V474I possibly damaging Het
Mrpl11 T C 19: 5,012,424 (GRCm39) S2P probably damaging Het
Mug2 A G 6: 122,017,678 (GRCm39) I472V probably benign Het
Myom1 G A 17: 71,391,235 (GRCm39) V915M possibly damaging Het
Nedd9 A T 13: 41,492,198 (GRCm39) I104N possibly damaging Het
Nphp3 A G 9: 103,909,159 (GRCm39) M790V probably benign Het
Nr3c2 C T 8: 77,635,838 (GRCm39) P313L probably damaging Het
Obsl1 A G 1: 75,469,365 (GRCm39) V1192A probably benign Het
Or10j2 C T 1: 173,098,440 (GRCm39) R233W probably benign Het
Or52e7 A G 7: 104,684,750 (GRCm39) H115R probably damaging Het
Or5t16 T C 2: 86,818,663 (GRCm39) I286V possibly damaging Het
Prr5l T G 2: 101,565,083 (GRCm39) E151A probably damaging Het
Psmb8 G T 17: 34,417,404 (GRCm39) R11L probably benign Het
Ptprg T A 14: 12,211,668 (GRCm38) H983Q probably benign Het
Ptprj T C 2: 90,290,940 (GRCm39) N600D possibly damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rc3h1 A G 1: 160,778,454 (GRCm39) S460G probably damaging Het
Rhot2 A G 17: 26,062,079 (GRCm39) probably null Het
Sall1 T C 8: 89,757,927 (GRCm39) T726A probably damaging Het
Samd9l G A 6: 3,373,646 (GRCm39) T1205I probably benign Het
Sh2b3 C T 5: 121,956,822 (GRCm39) probably null Het
Slc22a18 G T 7: 143,044,557 (GRCm39) C170F probably damaging Het
Slc24a1 G A 9: 64,855,209 (GRCm39) T566I unknown Het
Slc4a5 T A 6: 83,237,517 (GRCm39) C167S probably damaging Het
Slc8b1 T G 5: 120,671,100 (GRCm39) V579G probably damaging Het
Snrnp200 T C 2: 127,063,822 (GRCm39) V667A probably damaging Het
Sp8 C A 12: 118,813,070 (GRCm39) S308R possibly damaging Het
Srsf9 T A 5: 115,468,619 (GRCm39) V85E probably damaging Het
Syne1 T C 10: 5,168,527 (GRCm39) I5285V probably benign Het
Tmem245 T C 4: 56,947,069 (GRCm39) I115V probably benign Het
Triqk A G 4: 12,980,502 (GRCm39) D82G probably benign Het
Trmt11 A T 10: 30,463,520 (GRCm39) S198R probably damaging Het
Ube4b C T 4: 149,471,661 (GRCm39) R75Q probably benign Het
Ugt3a1 C T 15: 9,310,779 (GRCm39) Q354* probably null Het
Vmn1r202 A G 13: 22,685,850 (GRCm39) V189A probably benign Het
Vmn2r26 A G 6: 124,016,606 (GRCm39) I357V probably benign Het
Wdr6 T C 9: 108,450,947 (GRCm39) K914R probably benign Het
Zfp207 A G 11: 80,280,116 (GRCm39) M171V probably benign Het
Zfp568 C T 7: 29,697,212 (GRCm39) T44I 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
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
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'- GGACTCGAACACCTATGCAG -3'
(R):5'- TCCATCCGCCATGTTGGATG -3'

Sequencing Primer
(F):5'- GCAGGATCAAGCCAGCTTC -3'
(R):5'- CCATGTTGGATGCCGCAGATTC -3'
Posted On 2019-11-12