Incidental Mutation 'R5328:Zfat'
ID 422177
Institutional Source Beutler Lab
Gene Symbol Zfat
Ensembl Gene ENSMUSG00000022335
Gene Name zinc finger and AT hook domain containing
Synonyms LOC380993, Zfat1, Zfp406
MMRRC Submission 042843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5328 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 68083764-68258856 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 68179828 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 706 (G706C)
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: G706C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125257
Gene: ENSMUSG00000022335
AA Change: G706C

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: G699C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125732
Gene: ENSMUSG00000022335
AA Change: G699C

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: G706C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124974
Gene: ENSMUSG00000022335
AA Change: G706C

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: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,837,694 (GRCm38) V860E possibly damaging Het
Abcc6 T C 7: 45,992,311 (GRCm38) D881G probably benign Het
Abcc9 A G 6: 142,682,059 (GRCm38) V415A probably benign Het
Adgrb3 A C 1: 25,094,275 (GRCm38) N1003K possibly damaging Het
Adora3 C T 3: 105,907,303 (GRCm38) T123I probably benign Het
Amotl2 A C 9: 102,723,768 (GRCm38) T345P probably benign Het
Arap3 C T 18: 37,991,687 (GRCm38) E247K possibly damaging Het
Atp8b1 A T 18: 64,531,391 (GRCm38) D1235E probably benign Het
Axl A T 7: 25,773,411 (GRCm38) V400E probably damaging Het
Brd8 T A 18: 34,607,981 (GRCm38) N431Y probably benign Het
Cadps A T 14: 12,457,790 (GRCm38) N1025K probably benign Het
Cblc A T 7: 19,792,580 (GRCm38) S195T possibly damaging Het
Chd2 C T 7: 73,463,681 (GRCm38) A1184T possibly damaging Het
Chst10 G A 1: 38,895,962 (GRCm38) probably benign Het
Col12a1 T C 9: 79,620,060 (GRCm38) K2663E probably damaging Het
Cspg4 A T 9: 56,885,856 (GRCm38) I292L probably benign Het
Cul1 T C 6: 47,508,317 (GRCm38) V294A probably damaging Het
Cyp2d11 G A 15: 82,391,771 (GRCm38) P203L probably benign Het
Dscam T C 16: 96,673,678 (GRCm38) H1228R probably benign Het
Eif3l A T 15: 79,093,361 (GRCm38) K534* probably null Het
Enpep T C 3: 129,280,510 (GRCm38) E796G probably benign Het
Ext1 C A 15: 53,075,817 (GRCm38) W612L probably damaging Het
Faap100 T A 11: 120,377,632 (GRCm38) E105V possibly damaging Het
Fam117a T A 11: 95,364,170 (GRCm38) probably null Het
Fan1 A T 7: 64,354,469 (GRCm38) Y750N probably damaging Het
Fat4 T A 3: 38,956,868 (GRCm38) I2039N probably damaging Het
Gabrr2 G T 4: 33,082,565 (GRCm38) D106Y probably damaging Het
Gak A C 5: 108,617,001 (GRCm38) C145G possibly damaging Het
Galnt14 A T 17: 73,505,459 (GRCm38) N406K possibly damaging Het
Gm10439 T G X: 149,636,163 (GRCm38) *434E probably null Het
Gm10837 G T 14: 122,490,778 (GRCm38) R22L unknown Het
Gm19965 T A 1: 116,821,418 (GRCm38) H276Q possibly damaging Het
Gm43517 T C 12: 49,391,156 (GRCm38) probably benign Het
Gm9733 T C 3: 15,332,174 (GRCm38) M17V unknown Het
Greb1l A T 18: 10,553,720 (GRCm38) I1574F probably damaging Het
Gzme G A 14: 56,117,767 (GRCm38) H236Y probably benign Het
Heatr5b G A 17: 78,826,362 (GRCm38) T266I possibly damaging Het
Hk3 T C 13: 55,013,493 (GRCm38) I185V probably benign Het
Hnrnpr A G 4: 136,339,216 (GRCm38) E302G probably benign Het
Itgal T C 7: 127,311,675 (GRCm38) probably null Het
Itk A G 11: 46,331,876 (GRCm38) S583P probably benign Het
Loxhd1 A T 18: 77,410,572 (GRCm38) I1448F probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,350,991 (GRCm38) probably null Het
Man2a2 A T 7: 80,368,756 (GRCm38) F118L probably benign Het
Mfsd5 T A 15: 102,281,012 (GRCm38) V273E probably damaging Het
Nfe2l2 A G 2: 75,676,856 (GRCm38) L300P probably damaging Het
Nt5c1a T G 4: 123,208,993 (GRCm38) L122R possibly damaging Het
Nt5c3b A G 11: 100,440,241 (GRCm38) F42S probably damaging Het
Olfr332 C A 11: 58,490,429 (GRCm38) A109S possibly damaging Het
Olfr577 T A 7: 102,973,968 (GRCm38) N8I possibly damaging Het
Pabpc1 A T 15: 36,602,877 (GRCm38) D204E probably benign Het
Panx2 A G 15: 89,068,095 (GRCm38) N255S probably damaging Het
Pcnt A G 10: 76,411,719 (GRCm38) L993P probably damaging Het
Pfas A T 11: 68,988,592 (GRCm38) C1160S probably damaging Het
Plekhh3 T A 11: 101,167,658 (GRCm38) probably benign Het
Plod3 T A 5: 136,989,683 (GRCm38) N258K probably damaging Het
Prr14l T C 5: 32,830,021 (GRCm38) Q710R probably benign Het
Rnf216 G T 5: 143,092,999 (GRCm38) T65K possibly damaging Het
Samd9l T C 6: 3,376,739 (GRCm38) E174G probably damaging Het
Sept12 T A 16: 4,993,993 (GRCm38) M63L possibly damaging Het
Sh3bgrl2 T A 9: 83,577,456 (GRCm38) D22E probably benign Het
Skil A G 3: 31,117,569 (GRCm38) K488R probably benign Het
Slamf6 T A 1: 171,938,095 (GRCm38) I262K probably benign Het
Slc27a3 T C 3: 90,386,832 (GRCm38) D470G probably damaging Het
Sorbs3 A T 14: 70,181,174 (GRCm38) V680E probably damaging Het
Sox9 C T 11: 112,782,658 (GRCm38) T25I probably benign Het
Srsf1 G T 11: 88,049,993 (GRCm38) probably benign Het
Stard9 A C 2: 120,699,230 (GRCm38) E1989D probably damaging Het
Thumpd2 T A 17: 81,044,162 (GRCm38) I277F possibly damaging Het
Tinag C A 9: 77,005,631 (GRCm38) G299* probably null Het
Tk2 A T 8: 104,229,299 (GRCm38) probably null Het
Tmem44 A G 16: 30,540,891 (GRCm38) S210P possibly damaging Het
Traf3ip1 C A 1: 91,520,069 (GRCm38) P423T probably damaging Het
Trmt12 A G 15: 58,872,855 (GRCm38) D34G probably damaging Het
Ttc39b A G 4: 83,261,941 (GRCm38) Y72H probably damaging Het
Ttn G A 2: 76,878,411 (GRCm38) probably benign Het
Ttyh2 T A 11: 114,710,068 (GRCm38) I381N possibly damaging Het
Uaca A T 9: 60,870,532 (GRCm38) N734Y probably benign Het
Usp34 G A 11: 23,488,659 (GRCm38) G3407D probably benign Het
Usp34 T C 11: 23,464,616 (GRCm38) I2853T probably benign Het
Vmn2r78 A G 7: 86,921,030 (GRCm38) Y252C probably damaging Het
Wdr19 G A 5: 65,244,179 (GRCm38) C979Y probably damaging Het
Wdr92 C A 11: 17,222,220 (GRCm38) P103Q probably damaging Het
Yeats2 A T 16: 20,171,205 (GRCm38) H277L probably damaging Het
Zbtb2 T C 10: 4,369,267 (GRCm38) Y253C possibly damaging Het
Zfp106 A T 2: 120,520,417 (GRCm38) N1584K possibly damaging Het
Other mutations in Zfat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00542:Zfat APN 15 68,170,222 (GRCm38) missense possibly damaging 0.92
IGL00862:Zfat APN 15 68,258,663 (GRCm38) splice site probably null
IGL01021:Zfat APN 15 68,170,166 (GRCm38) missense possibly damaging 0.50
IGL01152:Zfat APN 15 68,110,504 (GRCm38) missense probably damaging 1.00
IGL01733:Zfat APN 15 68,180,730 (GRCm38) missense probably damaging 1.00
IGL01873:Zfat APN 15 68,224,895 (GRCm38) missense probably benign 0.00
IGL01990:Zfat APN 15 68,224,817 (GRCm38) missense probably damaging 1.00
IGL02066:Zfat APN 15 68,180,829 (GRCm38) missense probably damaging 1.00
IGL02664:Zfat APN 15 68,180,721 (GRCm38) missense probably damaging 1.00
IGL02955:Zfat APN 15 68,181,114 (GRCm38) missense probably damaging 0.98
IGL03201:Zfat APN 15 68,165,909 (GRCm38) missense probably damaging 1.00
R0145:Zfat UTSW 15 68,187,099 (GRCm38) missense possibly damaging 0.95
R0408:Zfat UTSW 15 68,180,292 (GRCm38) missense probably benign 0.10
R0633:Zfat UTSW 15 68,180,803 (GRCm38) missense probably damaging 1.00
R1147:Zfat UTSW 15 68,212,583 (GRCm38) splice site probably benign
R1508:Zfat UTSW 15 68,178,751 (GRCm38) missense probably damaging 1.00
R1513:Zfat UTSW 15 68,212,680 (GRCm38) missense probably damaging 1.00
R1641:Zfat UTSW 15 68,180,110 (GRCm38) missense probably benign 0.19
R1889:Zfat UTSW 15 68,101,539 (GRCm38) missense probably benign 0.00
R1959:Zfat UTSW 15 68,146,543 (GRCm38) missense probably benign 0.32
R2030:Zfat UTSW 15 68,118,934 (GRCm38) critical splice donor site probably null
R2202:Zfat UTSW 15 68,179,860 (GRCm38) missense probably benign 0.36
R2340:Zfat UTSW 15 68,101,541 (GRCm38) missense probably damaging 0.99
R3440:Zfat UTSW 15 68,084,553 (GRCm38) missense probably benign 0.00
R3442:Zfat UTSW 15 68,101,581 (GRCm38) missense probably damaging 0.99
R3442:Zfat UTSW 15 68,084,553 (GRCm38) missense probably benign 0.00
R4406:Zfat UTSW 15 68,180,191 (GRCm38) missense probably benign 0.00
R4649:Zfat UTSW 15 68,184,476 (GRCm38) missense probably damaging 1.00
R4710:Zfat UTSW 15 68,180,282 (GRCm38) missense probably benign
R4712:Zfat UTSW 15 68,110,475 (GRCm38) critical splice donor site probably null
R4745:Zfat UTSW 15 68,180,374 (GRCm38) missense probably benign 0.09
R4862:Zfat UTSW 15 68,180,110 (GRCm38) missense probably benign 0.02
R5015:Zfat UTSW 15 68,178,913 (GRCm38) missense probably damaging 1.00
R5075:Zfat UTSW 15 68,180,230 (GRCm38) missense probably benign
R5208:Zfat UTSW 15 68,180,721 (GRCm38) missense probably damaging 1.00
R5277:Zfat UTSW 15 68,165,909 (GRCm38) missense probably damaging 1.00
R5303:Zfat UTSW 15 68,110,486 (GRCm38) missense probably damaging 1.00
R5642:Zfat UTSW 15 68,180,916 (GRCm38) missense probably damaging 1.00
R5659:Zfat UTSW 15 68,119,013 (GRCm38) missense probably damaging 1.00
R5947:Zfat UTSW 15 68,179,957 (GRCm38) missense probably benign
R6046:Zfat UTSW 15 68,180,777 (GRCm38) missense probably damaging 0.99
R6315:Zfat UTSW 15 68,084,462 (GRCm38) missense probably damaging 1.00
R6342:Zfat UTSW 15 68,180,982 (GRCm38) missense probably damaging 1.00
R6573:Zfat UTSW 15 68,165,854 (GRCm38) missense probably damaging 1.00
R6789:Zfat UTSW 15 68,084,386 (GRCm38) missense probably damaging 1.00
R7028:Zfat UTSW 15 68,180,452 (GRCm38) missense probably damaging 1.00
R7033:Zfat UTSW 15 68,181,015 (GRCm38) missense probably damaging 1.00
R7039:Zfat UTSW 15 68,180,362 (GRCm38) missense probably benign
R7065:Zfat UTSW 15 68,181,120 (GRCm38) missense probably damaging 1.00
R7144:Zfat UTSW 15 68,178,782 (GRCm38) missense probably benign 0.12
R7208:Zfat UTSW 15 68,180,007 (GRCm38) missense probably benign 0.39
R7330:Zfat UTSW 15 68,212,751 (GRCm38) missense probably benign 0.00
R7345:Zfat UTSW 15 68,105,043 (GRCm38) missense probably damaging 1.00
R7378:Zfat UTSW 15 68,181,120 (GRCm38) missense probably damaging 1.00
R7405:Zfat UTSW 15 68,184,485 (GRCm38) missense probably damaging 1.00
R7481:Zfat UTSW 15 68,178,866 (GRCm38) nonsense probably null
R7672:Zfat UTSW 15 68,258,686 (GRCm38) start codon destroyed probably null 0.39
R7676:Zfat UTSW 15 68,224,844 (GRCm38) missense possibly damaging 0.88
R7701:Zfat UTSW 15 68,180,908 (GRCm38) nonsense probably null
R7825:Zfat UTSW 15 68,179,920 (GRCm38) missense probably benign 0.01
R8152:Zfat UTSW 15 68,101,506 (GRCm38) missense probably benign 0.23
R8404:Zfat UTSW 15 68,105,067 (GRCm38) missense probably benign 0.00
R8405:Zfat UTSW 15 68,146,561 (GRCm38) missense probably damaging 1.00
R8502:Zfat UTSW 15 68,105,067 (GRCm38) missense probably benign 0.00
R8534:Zfat UTSW 15 68,165,847 (GRCm38) missense probably damaging 1.00
R8708:Zfat UTSW 15 68,084,429 (GRCm38) missense possibly damaging 0.95
R8887:Zfat UTSW 15 68,184,466 (GRCm38) missense probably damaging 1.00
R8896:Zfat UTSW 15 68,180,670 (GRCm38) missense probably damaging 1.00
R8906:Zfat UTSW 15 68,084,555 (GRCm38) missense possibly damaging 0.81
R9117:Zfat UTSW 15 68,187,069 (GRCm38) missense probably damaging 0.98
R9137:Zfat UTSW 15 68,179,945 (GRCm38) missense probably benign 0.00
R9310:Zfat UTSW 15 68,084,401 (GRCm38) missense probably damaging 1.00
R9482:Zfat UTSW 15 68,212,803 (GRCm38) missense probably damaging 1.00
R9610:Zfat UTSW 15 68,179,806 (GRCm38) missense possibly damaging 0.58
R9611:Zfat UTSW 15 68,179,806 (GRCm38) missense possibly damaging 0.58
R9630:Zfat UTSW 15 68,118,944 (GRCm38) missense probably benign 0.37
Z1088:Zfat UTSW 15 68,187,101 (GRCm38) missense probably benign 0.00
Z1177:Zfat UTSW 15 68,179,828 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAAATGGAATCCCGGCGAG -3'
(R):5'- CCAAAAGTGCTGGACCAGAC -3'

Sequencing Primer
(F):5'- AATCCCGGCGAGGATAGC -3'
(R):5'- TGGACCAGACCCAGAGAGCTC -3'
Posted On 2016-08-04