Incidental Mutation 'IGL02549:Zfhx3'
ID 297991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfhx3
Ensembl Gene ENSMUSG00000038872
Gene Name zinc finger homeobox 3
Synonyms Sci, A230102L03Rik, WBP9, Atbf1
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # IGL02549
Quality Score
Status
Chromosome 8
Chromosomal Location 109005975-109688268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109527141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1013 (Y1013H)
Ref Sequence ENSEMBL: ENSMUSP00000152353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043896] [ENSMUST00000188994] [ENSMUST00000220518]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043896
AA Change: Y1013H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044612
Gene: ENSMUSG00000038872
AA Change: Y1013H

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 probably benign
Transcript: ENSMUST00000188994
Predicted Effect probably damaging
Transcript: ENSMUST00000220518
AA Change: Y1013H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.2020 question?
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 109,992,879 (GRCm39) E1595G probably damaging Het
Adnp2 G A 18: 80,172,333 (GRCm39) A692V probably damaging Het
Ankk1 A G 9: 49,329,993 (GRCm39) S321P probably damaging Het
Ankrd11 T C 8: 123,618,032 (GRCm39) Y1919C probably damaging Het
Atp10a A G 7: 58,469,481 (GRCm39) T1111A probably benign Het
Avpr1a A T 10: 122,288,069 (GRCm39) H359L possibly damaging Het
C1rl A T 6: 124,470,796 (GRCm39) I35F possibly damaging Het
Casp8 G A 1: 58,872,925 (GRCm39) C287Y probably benign Het
Ccdc88c A T 12: 100,895,191 (GRCm39) S1437T probably benign Het
Cd200r1 C T 16: 44,610,341 (GRCm39) P150S probably damaging Het
Col2a1 G A 15: 97,875,680 (GRCm39) R1202C unknown Het
Copb1 A T 7: 113,846,032 (GRCm39) D179E probably benign Het
Cyp2c29 C T 19: 39,298,229 (GRCm39) T258I possibly damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gemin5 T C 11: 58,025,629 (GRCm39) Y991C probably damaging Het
Gm4978 T C 9: 69,357,641 (GRCm39) probably benign Het
Gm7732 A T 17: 21,349,649 (GRCm39) noncoding transcript Het
Gucy2f T C X: 140,943,200 (GRCm39) I478V probably benign Het
Herc1 A G 9: 66,307,183 (GRCm39) H1001R probably damaging Het
Igsf10 A G 3: 59,236,662 (GRCm39) V1173A probably benign Het
Kansl1l T C 1: 66,841,127 (GRCm39) T58A probably benign Het
Kcnk13 A T 12: 100,028,010 (GRCm39) K362* probably null Het
Lama1 T G 17: 68,097,830 (GRCm39) L1737V possibly damaging Het
Lama4 A G 10: 38,936,200 (GRCm39) N625S probably benign Het
Loxl1 A T 9: 58,200,921 (GRCm39) C514S probably damaging Het
Muc13 A C 16: 33,628,339 (GRCm39) E363A probably damaging Het
Noxo1 G T 17: 24,919,145 (GRCm39) G289V probably damaging Het
Nudt7 G T 8: 114,878,688 (GRCm39) D239Y probably damaging Het
Polr3e G T 7: 120,538,982 (GRCm39) V407F probably damaging Het
Pou5f2 T A 13: 78,173,709 (GRCm39) L217Q probably damaging Het
R3hdm2 A G 10: 127,320,094 (GRCm39) probably benign Het
Rab11fip3 A C 17: 26,213,294 (GRCm39) N793K probably damaging Het
Ranbp3l A G 15: 8,997,925 (GRCm39) R6G possibly damaging Het
Slco1a6 T A 6: 142,042,141 (GRCm39) probably benign Het
Sspo A G 6: 48,428,707 (GRCm39) E374G possibly damaging Het
Tg T C 15: 66,711,210 (GRCm39) Y991H probably damaging Het
Tnc A G 4: 63,933,309 (GRCm39) Y652H probably damaging Het
Trpc4 G A 3: 54,129,770 (GRCm39) V179I possibly damaging Het
Xirp2 A G 2: 67,343,446 (GRCm39) T1896A probably benign 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
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
R5972:Zfhx3 UTSW 8 109,677,483 (GRCm39) missense possibly damaging 0.91
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
Posted On 2015-04-16