Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03194:Zfhx3'

412753

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: 0.923) question?

Stock #

IGL03194

Quality Score

Status

Chromosome

Chromosomal Location

109005975-109688268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109521359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 827 (E827G)

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: E827G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044612
Gene: ENSMUSG00000038872
AA Change: E827G

Domain	Start	End	E-Value	Type
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: E827G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 84,460,647 (GRCm39)	S64G	possibly damaging	Het
Clcn7	T	C	17: 25,369,522 (GRCm39)	V306A	probably damaging	Het
Clec4b2	G	A	6: 123,177,946 (GRCm39)	G87D	probably benign	Het
Disp2	A	T	2: 118,618,110 (GRCm39)	R219W	probably damaging	Het
Dnaaf11	A	T	15: 66,314,048 (GRCm39)	D317E	probably benign	Het
Dstyk	A	T	1: 132,384,054 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,302,240 (GRCm39)	S451G	possibly damaging	Het
Fat2	T	A	11: 55,201,821 (GRCm39)	T418S	probably benign	Het
Fto	G	A	8: 92,136,415 (GRCm39)	D228N	probably damaging	Het
Gins4	A	T	8: 23,724,762 (GRCm39)		probably benign	Het
Gm10220	T	A	5: 26,326,231 (GRCm39)	R40W	probably damaging	Het
Gm11149	G	A	9: 49,457,646 (GRCm39)		probably benign	Het
Gm5431	T	G	11: 48,786,364 (GRCm39)		probably benign	Het
Hebp1	A	G	6: 135,132,190 (GRCm39)	M59T	probably benign	Het
Lrp1	A	T	10: 127,404,554 (GRCm39)	V1989D	probably damaging	Het
Ltc4s	T	C	11: 50,127,398 (GRCm39)	*151W	probably null	Het
Map3k21	A	G	8: 126,650,801 (GRCm39)	T268A	possibly damaging	Het
Mdp1	A	G	14: 55,896,444 (GRCm39)	L164P	probably damaging	Het
Mroh4	T	C	15: 74,483,388 (GRCm39)	T650A	probably damaging	Het
Mss51	T	C	14: 20,535,165 (GRCm39)	N202D	probably benign	Het
Mtus2	G	A	5: 148,043,913 (GRCm39)	A834T	probably damaging	Het
Nalf1	T	C	8: 9,282,975 (GRCm39)	D358G	probably damaging	Het
Ncoa6	A	G	2: 155,257,788 (GRCm39)	M585T	possibly damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Npvf	A	C	6: 50,627,878 (GRCm39)	D180E	possibly damaging	Het
Nup188	A	T	2: 30,194,346 (GRCm39)	Y173F	possibly damaging	Het
Oas3	C	A	5: 120,897,018 (GRCm39)	A868S	probably damaging	Het
Pkhd1l1	A	G	15: 44,381,531 (GRCm39)	T1086A	probably damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Rara	T	C	11: 98,862,490 (GRCm39)	M297T	possibly damaging	Het
Tmc1	T	C	19: 20,782,017 (GRCm39)	E567G	probably damaging	Het
Tnxb	C	T	17: 34,914,921 (GRCm39)	Q1970*	probably null	Het
Usp11	T	C	X: 20,578,656 (GRCm39)	I162T	probably benign	Het
Utrn	A	G	10: 12,282,173 (GRCm39)		probably benign	Het

Other mutations in Zfhx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02