Incidental Mutation 'R5015:Zfat'
ID 385535
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 042606-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 67955613-68130705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68050762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 753 (D753G)
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 possibly damaging
Transcript: ENSMUST00000160248
AA Change: D753G

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: D753G

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: D746G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: D746G

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: D753G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: D753G

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: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,671 (GRCm39) F312L probably benign Het
Adprm A G 11: 66,932,856 (GRCm39) F18L possibly damaging Het
Ampd1 T G 3: 103,006,981 (GRCm39) N735K possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp1a4 T C 1: 172,081,649 (GRCm39) M168V probably damaging Het
Bcl6 G A 16: 23,793,600 (GRCm39) H116Y probably damaging Het
Bmpr2 T A 1: 59,890,383 (GRCm39) N338K probably damaging Het
Bms1 A T 6: 118,381,224 (GRCm39) Y697* probably null Het
Ccdc33 A C 9: 58,025,918 (GRCm39) F37C probably damaging Het
Ccdc60 T A 5: 116,426,507 (GRCm39) Q30L probably benign Het
Cndp1 C A 18: 84,650,036 (GRCm39) R219L probably damaging Het
Cstdc4 T C 16: 36,006,837 (GRCm39) probably null Het
Daam2 C A 17: 49,783,550 (GRCm39) D627Y probably damaging Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dnah2 T G 11: 69,388,708 (GRCm39) T892P possibly damaging Het
Dqx1 A G 6: 83,043,092 (GRCm39) T610A probably benign Het
Dspp A T 5: 104,324,926 (GRCm39) I430L possibly damaging Het
Dytn T A 1: 63,672,854 (GRCm39) K516N probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fmnl2 T A 2: 52,993,773 (GRCm39) N389K possibly damaging Het
Fn1 G A 1: 71,665,336 (GRCm39) T927I probably damaging Het
Foxn1 T C 11: 78,261,989 (GRCm39) K127E probably damaging Het
Fpr-rs6 A G 17: 20,402,608 (GRCm39) F251S probably damaging Het
Frrs1 A G 3: 116,672,088 (GRCm39) D62G probably damaging Het
Fut10 T A 8: 31,726,148 (GRCm39) V301D probably damaging Het
Gk5 A G 9: 96,059,470 (GRCm39) probably null Het
Glipr1l1 T A 10: 111,914,279 (GRCm39) N213K probably benign Het
Gm1110 A G 9: 26,793,162 (GRCm39) F538S probably benign Het
Gm7347 T A 5: 26,262,366 (GRCm39) T52S probably benign Het
Gsap T C 5: 21,427,406 (GRCm39) I178T probably damaging Het
H1f9 C A 11: 94,858,928 (GRCm39) N74K probably damaging Het
Hcn1 A T 13: 117,739,556 (GRCm39) Q106L unknown Het
Isg20l2 G T 3: 87,839,288 (GRCm39) L166F possibly damaging Het
Kcnq3 T A 15: 65,876,612 (GRCm39) E510D probably damaging Het
Kif26b G T 1: 178,755,895 (GRCm39) R2003L probably damaging Het
Kiss1r T C 10: 79,754,641 (GRCm39) V45A probably damaging Het
Krt14 G A 11: 100,098,032 (GRCm39) R84* probably null Het
Mbd5 T C 2: 49,148,208 (GRCm39) M806T possibly damaging Het
Mdga1 A T 17: 30,058,847 (GRCm39) I13N possibly damaging Het
Mfsd4b5 T C 10: 39,850,758 (GRCm39) K73E probably benign Het
Mterf2 C T 10: 84,955,596 (GRCm39) G343R probably benign Het
Mto1 T A 9: 78,368,903 (GRCm39) F522I probably benign Het
Myo18b T C 5: 112,937,923 (GRCm39) E1734G probably damaging Het
Myoz1 T C 14: 20,703,787 (GRCm39) T53A probably benign Het
Naxd T C 8: 11,563,032 (GRCm39) L324P probably damaging Het
Nos1 T A 5: 118,005,334 (GRCm39) V18D probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Or10v5 T C 19: 11,805,482 (GRCm39) R303G probably benign Het
Or10z1 A G 1: 174,078,448 (GRCm39) L15S possibly damaging Het
Or1e29 C G 11: 73,668,007 (GRCm39) V49L probably benign Het
Or2j6 T C 7: 139,980,083 (GRCm39) D292G probably damaging Het
Or52b1 A G 7: 104,978,811 (GRCm39) V196A possibly damaging Het
Otof T A 5: 30,540,238 (GRCm39) Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Pex1 A G 5: 3,670,597 (GRCm39) K7E probably damaging Het
Pi4ka A G 16: 17,120,946 (GRCm39) S73P possibly damaging Het
Plxnb1 T A 9: 108,929,498 (GRCm39) I118N possibly damaging Het
Prcc T C 3: 87,779,560 (GRCm39) D158G probably damaging Het
Ptpn7 C A 1: 135,066,877 (GRCm39) R245S possibly damaging Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Pwp2 A G 10: 78,018,527 (GRCm39) C86R probably benign Het
Rfng T G 11: 120,673,876 (GRCm39) D178A probably damaging Het
Rhpn1 T C 15: 75,580,090 (GRCm39) I51T probably damaging Het
Rnasel G T 1: 153,629,843 (GRCm39) E120* probably null Het
Sall2 T G 14: 52,553,112 (GRCm39) S26R possibly damaging Het
Scn10a A G 9: 119,451,987 (GRCm39) V1312A possibly damaging Het
Sdk2 C A 11: 113,684,587 (GRCm39) R1958L probably damaging Het
Septin4 C T 11: 87,458,043 (GRCm39) S139F possibly damaging Het
Slc52a2 T A 15: 76,424,751 (GRCm39) C330S probably damaging Het
Smarca2 T A 19: 26,668,788 (GRCm39) I987N possibly damaging Het
Srrt A T 5: 137,294,271 (GRCm39) Y486N probably damaging Het
Stat5b A T 11: 100,695,831 (GRCm39) N50K possibly damaging Het
Strip2 T A 6: 29,931,265 (GRCm39) D405E probably benign Het
Tcstv6 T A 13: 120,298,474 (GRCm39) probably null Het
Tnc A T 4: 63,924,739 (GRCm39) D986E probably damaging Het
Tph2 T C 10: 114,915,621 (GRCm39) N473S probably benign Het
Tpp1 C T 7: 105,401,232 (GRCm39) probably benign Het
Trpm3 T C 19: 22,689,076 (GRCm39) Y2H probably damaging Het
Ttc21a A T 9: 119,795,195 (GRCm39) E1072V probably damaging Het
Zmym2 T A 14: 57,159,051 (GRCm39) S609T 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
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'- TGTTCGGGCTTGCTACTTAC -3'
(R):5'- AATTTCCTGACAGAAATGTGGTGG -3'

Sequencing Primer
(F):5'- ACTTTAAGATGGGCCTGCAGC -3'
(R):5'- CTGACAGAAATGTGGTGGAGAGTG -3'
Posted On 2016-05-10