Incidental Mutation 'R5972:Zfhx3'
ID 471472
Institutional Source Beutler Lab
Gene Symbol Zfhx3
Ensembl Gene ENSMUSG00000038872
Gene Name zinc finger homeobox 3
Synonyms Sci, A230102L03Rik, WBP9, Atbf1
MMRRC Submission 044155-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R5972 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 109005975-109688268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 109677483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 2844 (C2844W)
Ref Sequence ENSEMBL: ENSMUSP00000152353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043896] [ENSMUST00000220518]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000043896
AA Change: C2844W

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044612
Gene: ENSMUSG00000038872
AA Change: C2844W

DomainStartEndE-ValueType
ZnF_C2H2 79 103 7.89e0 SMART
low complexity region 110 127 N/A INTRINSIC
low complexity region 148 165 N/A INTRINSIC
ZnF_C2H2 282 305 1.36e1 SMART
low complexity region 393 411 N/A INTRINSIC
coiled coil region 453 496 N/A INTRINSIC
low complexity region 500 523 N/A INTRINSIC
ZnF_C2H2 641 664 3.47e0 SMART
ZnF_C2H2 672 695 6.78e-3 SMART
ZnF_U1 724 758 5.71e-1 SMART
ZnF_C2H2 727 751 4.87e-4 SMART
low complexity region 771 785 N/A INTRINSIC
low complexity region 796 804 N/A INTRINSIC
ZnF_C2H2 805 829 6.67e-2 SMART
ZnF_U1 982 1016 2.35e0 SMART
ZnF_C2H2 985 1009 4.57e0 SMART
ZnF_C2H2 1041 1065 3.99e0 SMART
ZnF_U1 1086 1120 1.36e0 SMART
ZnF_C2H2 1089 1113 1.33e-1 SMART
ZnF_C2H2 1233 1256 4.11e-2 SMART
ZnF_C2H2 1262 1285 4.34e-1 SMART
ZnF_C2H2 1370 1395 1.08e-1 SMART
ZnF_C2H2 1411 1433 3.34e-2 SMART
ZnF_C2H2 1439 1462 8.09e-1 SMART
low complexity region 1500 1512 N/A INTRINSIC
ZnF_U1 1552 1586 1.05e0 SMART
ZnF_C2H2 1555 1579 8.22e-2 SMART
ZnF_U1 1603 1637 4.19e0 SMART
ZnF_C2H2 1606 1630 1.16e-1 SMART
low complexity region 1643 1669 N/A INTRINSIC
low complexity region 1734 1776 N/A INTRINSIC
low complexity region 1792 1802 N/A INTRINSIC
low complexity region 1842 1878 N/A INTRINSIC
low complexity region 1881 1894 N/A INTRINSIC
low complexity region 1967 1985 N/A INTRINSIC
ZnF_C2H2 1990 2013 1.62e0 SMART
low complexity region 2041 2088 N/A INTRINSIC
low complexity region 2110 2125 N/A INTRINSIC
HOX 2152 2214 1.13e-16 SMART
HOX 2249 2311 2.41e-20 SMART
ZnF_C2H2 2335 2355 1.72e1 SMART
low complexity region 2383 2414 N/A INTRINSIC
low complexity region 2458 2473 N/A INTRINSIC
low complexity region 2476 2521 N/A INTRINSIC
ZnF_C2H2 2539 2561 1.79e-2 SMART
low complexity region 2606 2619 N/A INTRINSIC
HOX 2650 2712 2.97e-20 SMART
ZnF_C2H2 2720 2743 7.67e-2 SMART
low complexity region 2929 2950 N/A INTRINSIC
HOX 2954 3016 1.07e-17 SMART
ZnF_U1 3029 3063 1.8e-1 SMART
ZnF_C2H2 3032 3056 8.31e0 SMART
low complexity region 3130 3144 N/A INTRINSIC
low complexity region 3181 3235 N/A INTRINSIC
low complexity region 3237 3256 N/A INTRINSIC
low complexity region 3268 3282 N/A INTRINSIC
low complexity region 3290 3299 N/A INTRINSIC
coiled coil region 3362 3417 N/A INTRINSIC
low complexity region 3452 3476 N/A INTRINSIC
ZnF_C2H2 3489 3509 1.45e2 SMART
ZnF_U1 3546 3580 1.36e0 SMART
ZnF_C2H2 3549 3573 1.77e1 SMART
low complexity region 3602 3633 N/A INTRINSIC
low complexity region 3642 3674 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000220518
AA Change: C2844W

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit normal initial pituitary development but reduced GH and TSH-beta staining within the pituitary by E17.5. Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice heterozygous for the same allele exhibit partial postnatal lethality, decreased body size and prolonged conception time. [provided by MGI curators]
Allele List at MGI

 All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T A 6: 58,649,070 (GRCm39) M305K probably benign Het
Accs G T 2: 93,669,572 (GRCm39) H283N probably damaging Het
Actl6b A T 5: 137,564,818 (GRCm39) H283L possibly damaging Het
Adgra1 T C 7: 139,425,583 (GRCm39) L32P probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgef2 T C 2: 166,733,756 (GRCm39) I1672T probably damaging Het
Bambi T A 18: 3,512,354 (GRCm39) V246E probably damaging Het
BC048679 A G 7: 81,145,479 (GRCm39) L29P probably damaging Het
Bmal2 A G 6: 146,711,187 (GRCm39) M64V probably damaging Het
Camk4 T C 18: 33,240,979 (GRCm39) L92P probably damaging Het
Ddx11 C A 17: 66,455,085 (GRCm39) Q655K probably benign Het
Ddx52 A G 11: 83,844,051 (GRCm39) probably null Het
Entrep3 T A 3: 89,093,115 (GRCm39) V213D probably damaging Het
Eps8l3 T C 3: 107,791,763 (GRCm39) probably null Het
Erap1 T A 13: 74,810,423 (GRCm39) probably null Het
Flg T A 3: 93,186,849 (GRCm39) N100K probably benign Het
Grip2 A T 6: 91,784,262 (GRCm39) V13E probably benign Het
Iars1 T C 13: 49,863,108 (GRCm39) V520A possibly damaging Het
Impa1 A G 3: 10,394,064 (GRCm39) M1T probably null Het
Ip6k3 T C 17: 27,368,934 (GRCm39) T179A possibly damaging Het
Krt87 T A 15: 101,385,467 (GRCm39) M302L probably benign Het
Lrp8 T C 4: 107,726,267 (GRCm39) Y899H probably damaging Het
Lrpprc A T 17: 85,020,250 (GRCm39) I1145N possibly damaging Het
Mapk11 A T 15: 89,028,387 (GRCm39) D324E probably benign Het
Melk C T 4: 44,351,007 (GRCm39) T516I probably benign Het
Mia2 C T 12: 59,193,723 (GRCm39) H130Y probably damaging Het
Mroh5 C T 15: 73,662,568 (GRCm39) probably null Het
Ncam1 T C 9: 49,418,829 (GRCm39) T824A possibly damaging Het
Neurog1 T C 13: 56,399,211 (GRCm39) S179G probably damaging Het
Ntrk2 T A 13: 58,985,633 (GRCm39) L79Q probably damaging Het
Patj T A 4: 98,457,290 (GRCm39) M46K probably damaging Het
Pdcd6ip T C 9: 113,491,366 (GRCm39) K626E probably benign Het
Pdss2 T A 10: 43,174,922 (GRCm39) Y143N probably damaging Het
Pkhd1l1 G A 15: 44,408,812 (GRCm39) S2433N probably damaging Het
Plekha5 A G 6: 140,518,639 (GRCm39) T309A possibly damaging Het
Prdm4 C T 10: 85,743,365 (GRCm39) V297M probably damaging Het
Rab15 T C 12: 76,847,377 (GRCm39) Y148C probably damaging Het
Ryr3 A T 2: 112,664,409 (GRCm39) N1627K probably damaging Het
Scn1a G T 2: 66,181,454 (GRCm39) A23E possibly damaging Het
Smtn A T 11: 3,483,486 (GRCm39) I30N probably damaging Het
Sympk A G 7: 18,780,749 (GRCm39) K751E probably benign Het
Usp24 C T 4: 106,225,264 (GRCm39) P632L probably damaging Het
Vmn2r106 A G 17: 20,498,738 (GRCm39) I391T probably benign Het
Vmn2r54 G A 7: 12,349,279 (GRCm39) P768S probably damaging Het
Vmn2r54 C T 7: 12,369,874 (GRCm39) C63Y probably damaging Het
Other mutations in Zfhx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Zfhx3 APN 8 109,520,226 (GRCm39) missense probably benign 0.00
IGL01946:Zfhx3 APN 8 109,660,561 (GRCm39) missense probably damaging 0.98
IGL01973:Zfhx3 APN 8 109,673,825 (GRCm39) missense probably damaging 1.00
IGL01983:Zfhx3 APN 8 109,673,866 (GRCm39) missense probably damaging 1.00
IGL02151:Zfhx3 APN 8 109,520,515 (GRCm39) missense probably damaging 1.00
IGL02405:Zfhx3 APN 8 109,682,374 (GRCm39) missense unknown
IGL02406:Zfhx3 APN 8 109,682,374 (GRCm39) missense unknown
IGL02408:Zfhx3 APN 8 109,682,004 (GRCm39) splice site probably benign
IGL02549:Zfhx3 APN 8 109,527,141 (GRCm39) missense probably damaging 1.00
IGL02601:Zfhx3 APN 8 109,583,462 (GRCm39) missense probably damaging 1.00
IGL02649:Zfhx3 APN 8 109,520,167 (GRCm39) missense possibly damaging 0.94
IGL03027:Zfhx3 APN 8 109,519,820 (GRCm39) missense probably damaging 0.98
IGL03053:Zfhx3 APN 8 109,673,132 (GRCm39) missense probably damaging 0.99
IGL03168:Zfhx3 APN 8 109,673,132 (GRCm39) missense probably damaging 0.99
IGL03194:Zfhx3 APN 8 109,521,359 (GRCm39) missense probably damaging 0.97
IGL03248:Zfhx3 APN 8 109,673,182 (GRCm39) missense probably damaging 1.00
FR4449:Zfhx3 UTSW 8 109,682,726 (GRCm39) small insertion probably benign
FR4589:Zfhx3 UTSW 8 109,682,733 (GRCm39) small insertion probably benign
FR4737:Zfhx3 UTSW 8 109,682,735 (GRCm39) small insertion probably benign
FR4737:Zfhx3 UTSW 8 109,682,734 (GRCm39) small insertion probably benign
FR4737:Zfhx3 UTSW 8 109,682,720 (GRCm39) small insertion probably benign
G5030:Zfhx3 UTSW 8 109,678,091 (GRCm39) missense possibly damaging 0.86
R0016:Zfhx3 UTSW 8 109,676,810 (GRCm39) missense probably benign 0.02
R0090:Zfhx3 UTSW 8 109,676,689 (GRCm39) missense possibly damaging 0.85
R0330:Zfhx3 UTSW 8 109,675,589 (GRCm39) missense probably damaging 1.00
R0332:Zfhx3 UTSW 8 109,673,255 (GRCm39) missense probably damaging 1.00
R0398:Zfhx3 UTSW 8 109,677,878 (GRCm39) missense probably damaging 0.98
R0539:Zfhx3 UTSW 8 109,527,141 (GRCm39) missense probably damaging 1.00
R0546:Zfhx3 UTSW 8 109,520,819 (GRCm39) missense probably damaging 1.00
R0614:Zfhx3 UTSW 8 109,675,599 (GRCm39) nonsense probably null
R0614:Zfhx3 UTSW 8 109,675,171 (GRCm39) missense probably benign 0.03
R0653:Zfhx3 UTSW 8 109,673,440 (GRCm39) missense possibly damaging 0.95
R0718:Zfhx3 UTSW 8 109,682,282 (GRCm39) missense unknown
R0825:Zfhx3 UTSW 8 109,675,840 (GRCm39) missense probably damaging 0.99
R1143:Zfhx3 UTSW 8 109,521,043 (GRCm39) missense probably damaging 1.00
R1319:Zfhx3 UTSW 8 109,660,465 (GRCm39) missense probably damaging 0.99
R1347:Zfhx3 UTSW 8 109,527,330 (GRCm39) splice site probably benign
R1412:Zfhx3 UTSW 8 109,641,199 (GRCm39) missense possibly damaging 0.88
R1447:Zfhx3 UTSW 8 109,675,076 (GRCm39) missense probably benign 0.03
R1530:Zfhx3 UTSW 8 109,675,121 (GRCm39) missense probably damaging 1.00
R1745:Zfhx3 UTSW 8 109,682,494 (GRCm39) missense unknown
R1764:Zfhx3 UTSW 8 109,678,276 (GRCm39) missense probably benign 0.18
R1781:Zfhx3 UTSW 8 109,520,167 (GRCm39) missense probably benign 0.01
R1917:Zfhx3 UTSW 8 109,682,880 (GRCm39) missense unknown
R1956:Zfhx3 UTSW 8 109,520,774 (GRCm39) missense probably benign 0.02
R2049:Zfhx3 UTSW 8 109,671,809 (GRCm39) missense probably benign 0.01
R2196:Zfhx3 UTSW 8 109,526,885 (GRCm39) missense probably damaging 1.00
R3085:Zfhx3 UTSW 8 109,682,664 (GRCm39) missense unknown
R3765:Zfhx3 UTSW 8 109,519,394 (GRCm39) missense probably damaging 0.97
R4162:Zfhx3 UTSW 8 109,683,619 (GRCm39) missense unknown
R4243:Zfhx3 UTSW 8 109,518,952 (GRCm39) missense probably damaging 0.97
R4380:Zfhx3 UTSW 8 109,683,022 (GRCm39) missense unknown
R4433:Zfhx3 UTSW 8 109,682,269 (GRCm39) missense unknown
R4509:Zfhx3 UTSW 8 109,520,411 (GRCm39) missense probably benign 0.01
R4731:Zfhx3 UTSW 8 109,682,716 (GRCm39) missense unknown
R4788:Zfhx3 UTSW 8 109,520,842 (GRCm39) missense probably damaging 1.00
R4812:Zfhx3 UTSW 8 109,674,593 (GRCm39) missense possibly damaging 0.83
R4893:Zfhx3 UTSW 8 109,683,639 (GRCm39) missense unknown
R4907:Zfhx3 UTSW 8 109,519,986 (GRCm39) missense probably damaging 0.99
R4935:Zfhx3 UTSW 8 109,674,482 (GRCm39) missense possibly damaging 0.92
R4943:Zfhx3 UTSW 8 109,674,949 (GRCm39) missense probably damaging 0.98
R5154:Zfhx3 UTSW 8 109,527,207 (GRCm39) missense probably damaging 1.00
R5377:Zfhx3 UTSW 8 109,677,817 (GRCm39) missense possibly damaging 0.95
R5388:Zfhx3 UTSW 8 109,673,446 (GRCm39) missense possibly damaging 0.88
R5434:Zfhx3 UTSW 8 109,519,031 (GRCm39) missense probably damaging 0.99
R5445:Zfhx3 UTSW 8 109,682,842 (GRCm39) missense unknown
R5541:Zfhx3 UTSW 8 109,675,583 (GRCm39) missense probably damaging 0.99
R5571:Zfhx3 UTSW 8 109,682,623 (GRCm39) missense unknown
R5700:Zfhx3 UTSW 8 109,660,499 (GRCm39) missense probably damaging 1.00
R5754:Zfhx3 UTSW 8 109,526,964 (GRCm39) missense probably damaging 0.99
R5867:Zfhx3 UTSW 8 109,520,078 (GRCm39) missense probably damaging 1.00
R5905:Zfhx3 UTSW 8 109,520,135 (GRCm39) missense probably damaging 1.00
R5922:Zfhx3 UTSW 8 109,673,330 (GRCm39) missense probably damaging 1.00
R6020:Zfhx3 UTSW 8 109,519,159 (GRCm39) missense probably damaging 1.00
R6028:Zfhx3 UTSW 8 109,520,135 (GRCm39) missense probably damaging 1.00
R6113:Zfhx3 UTSW 8 109,674,053 (GRCm39) missense probably benign 0.04
R6253:Zfhx3 UTSW 8 109,682,020 (GRCm39) missense possibly damaging 0.96
R6356:Zfhx3 UTSW 8 109,673,251 (GRCm39) missense probably damaging 1.00
R6800:Zfhx3 UTSW 8 109,676,149 (GRCm39) missense probably benign 0.20
R6829:Zfhx3 UTSW 8 109,676,915 (GRCm39) missense probably damaging 0.98
R6872:Zfhx3 UTSW 8 109,527,273 (GRCm39) missense probably damaging 1.00
R6873:Zfhx3 UTSW 8 109,527,273 (GRCm39) missense probably damaging 1.00
R6919:Zfhx3 UTSW 8 109,527,160 (GRCm39) missense probably damaging 1.00
R6921:Zfhx3 UTSW 8 109,678,024 (GRCm39) missense possibly damaging 0.53
R6925:Zfhx3 UTSW 8 109,683,453 (GRCm39) missense unknown
R6927:Zfhx3 UTSW 8 109,683,453 (GRCm39) missense unknown
R7152:Zfhx3 UTSW 8 109,674,839 (GRCm39) missense possibly damaging 0.94
R7169:Zfhx3 UTSW 8 109,678,030 (GRCm39) missense possibly damaging 0.86
R7214:Zfhx3 UTSW 8 109,675,493 (GRCm39) missense probably damaging 0.98
R7378:Zfhx3 UTSW 8 109,519,880 (GRCm39) missense probably damaging 0.99
R7391:Zfhx3 UTSW 8 109,674,475 (GRCm39) missense probably damaging 0.96
R7442:Zfhx3 UTSW 8 109,519,468 (GRCm39) missense probably damaging 0.97
R7636:Zfhx3 UTSW 8 109,673,441 (GRCm39) missense probably benign 0.25
R7649:Zfhx3 UTSW 8 109,678,276 (GRCm39) missense probably benign 0.18
R7699:Zfhx3 UTSW 8 109,677,754 (GRCm39) missense probably benign 0.18
R7728:Zfhx3 UTSW 8 109,678,201 (GRCm39) missense probably benign 0.01
R7780:Zfhx3 UTSW 8 109,678,283 (GRCm39) missense possibly damaging 0.53
R7904:Zfhx3 UTSW 8 109,677,695 (GRCm39) missense probably damaging 0.98
R8032:Zfhx3 UTSW 8 109,677,854 (GRCm39) missense possibly damaging 0.51
R8158:Zfhx3 UTSW 8 109,675,353 (GRCm39) missense possibly damaging 0.82
R8163:Zfhx3 UTSW 8 109,675,925 (GRCm39) missense probably damaging 1.00
R8215:Zfhx3 UTSW 8 109,677,349 (GRCm39) missense probably benign
R8217:Zfhx3 UTSW 8 109,677,349 (GRCm39) missense probably benign
R8218:Zfhx3 UTSW 8 109,677,349 (GRCm39) missense probably benign
R8369:Zfhx3 UTSW 8 109,583,448 (GRCm39) missense possibly damaging 0.82
R8424:Zfhx3 UTSW 8 109,583,385 (GRCm39) missense probably damaging 0.98
R8482:Zfhx3 UTSW 8 109,674,511 (GRCm39) missense probably benign 0.02
R8504:Zfhx3 UTSW 8 109,583,549 (GRCm39) missense possibly damaging 0.95
R8871:Zfhx3 UTSW 8 109,676,867 (GRCm39) missense possibly damaging 0.85
R9144:Zfhx3 UTSW 8 109,676,794 (GRCm39) missense possibly damaging 0.53
R9202:Zfhx3 UTSW 8 109,677,920 (GRCm39) missense possibly damaging 0.92
R9213:Zfhx3 UTSW 8 109,676,756 (GRCm39) missense probably benign 0.18
R9218:Zfhx3 UTSW 8 109,520,501 (GRCm39) missense probably benign 0.17
R9370:Zfhx3 UTSW 8 109,521,340 (GRCm39) missense probably damaging 1.00
R9422:Zfhx3 UTSW 8 109,430,850 (GRCm39) start gained probably benign
R9530:Zfhx3 UTSW 8 109,527,010 (GRCm39) missense probably damaging 1.00
RF027:Zfhx3 UTSW 8 109,682,730 (GRCm39) small insertion probably benign
RF028:Zfhx3 UTSW 8 109,682,728 (GRCm39) small insertion probably benign
RF029:Zfhx3 UTSW 8 109,682,724 (GRCm39) small insertion probably benign
RF031:Zfhx3 UTSW 8 109,682,730 (GRCm39) small insertion probably benign
RF032:Zfhx3 UTSW 8 109,682,724 (GRCm39) small insertion probably benign
RF037:Zfhx3 UTSW 8 109,682,730 (GRCm39) nonsense probably null
RF038:Zfhx3 UTSW 8 109,682,733 (GRCm39) small insertion probably benign
RF040:Zfhx3 UTSW 8 109,682,733 (GRCm39) small insertion probably benign
RF042:Zfhx3 UTSW 8 109,682,730 (GRCm39) small insertion probably benign
RF042:Zfhx3 UTSW 8 109,682,720 (GRCm39) small insertion probably benign
RF054:Zfhx3 UTSW 8 109,682,728 (GRCm39) small insertion probably benign
RF060:Zfhx3 UTSW 8 109,682,720 (GRCm39) small insertion probably benign
X0019:Zfhx3 UTSW 8 109,678,285 (GRCm39) missense probably benign 0.00
X0026:Zfhx3 UTSW 8 109,675,777 (GRCm39) missense probably damaging 1.00
Z1088:Zfhx3 UTSW 8 109,677,989 (GRCm39) missense possibly damaging 0.72
Z1176:Zfhx3 UTSW 8 109,527,081 (GRCm39) missense probably damaging 1.00
Z1176:Zfhx3 UTSW 8 109,520,555 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- ATGGAACTAGCTTTTCCCACC -3'
(R):5'- AGTCCACTGTACCTTCGTTG -3'

Sequencing Primer
(F):5'- TACCCCCGAGCAGTAGTGAC -3'
(R):5'- GGCTGACCAGACCAGATGAC -3'
Posted On 2017-03-31