Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02041:Foxh1'

184749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxh1

Ensembl Gene

ENSMUSG00000033837

Gene Name

forkhead box H1

Synonyms

Fast2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02041

Quality Score

Status

Chromosome

Chromosomal Location

76552425-76554148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76553120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 198 (F198S)

Ref Sequence

ENSEMBL: ENSMUSP00000036591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000037551] [ENSMUST00000037824] [ENSMUST00000135388] [ENSMUST00000230964] [ENSMUST00000230451]

AlphaFold

O88621

Predicted Effect

probably benign
Transcript: ENSMUST00000004294

SMART Domains

Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	36	45	N/A	INTRINSIC
low complexity region	117	129	N/A	INTRINSIC
low complexity region	179	192	N/A	INTRINSIC
coiled coil region	195	235	N/A	INTRINSIC
coiled coil region	274	345	N/A	INTRINSIC
KISc	407	740	3.21e-141	SMART
low complexity region	745	781	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037551

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819

Domain	Start	End	E-Value	Type
ANK	70	99	2.5e3	SMART
ANK	103	132	3.41e-3	SMART
ANK	136	165	2.66e-5	SMART
ANK	231	260	2.58e-3	SMART
ANK	264	293	4.03e-5	SMART
low complexity region	323	346	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000037824
AA Change: F198S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837
AA Change: F198S

Domain	Start	End	E-Value	Type
FH	62	152	2.71e-34	SMART
low complexity region	183	194	N/A	INTRINSIC
low complexity region	331	345	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230207

Predicted Effect

probably benign
Transcript: ENSMUST00000230964

Predicted Effect

probably benign
Transcript: ENSMUST00000230451

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]
PHENOTYPE: Conditional knockout of this gene in the lateral plate mesoderm results in death within a few days after birth. Mutant animals exhibit right isomerism affecting the heart, lungs, and stomach. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,772,674 (GRCm39)	Q28L	probably damaging	Het
Abtb3	G	A	10: 85,223,418 (GRCm39)	D76N	unknown	Het
Afg1l	A	G	10: 42,330,376 (GRCm39)	V97A	probably damaging	Het
Akap6	A	C	12: 53,187,436 (GRCm39)	S1617R	probably damaging	Het
Aldh1a3	T	C	7: 66,057,579 (GRCm39)	N285D	probably damaging	Het
Arhgap20	A	T	9: 51,757,490 (GRCm39)	N494I	possibly damaging	Het
Atg9a	G	T	1: 75,159,748 (GRCm39)	Q712K	possibly damaging	Het
Cdcp2	G	A	4: 106,964,386 (GRCm39)		probably benign	Het
Cds2	T	A	2: 132,136,363 (GRCm39)	I84N	possibly damaging	Het
Clcn3	T	C	8: 61,376,187 (GRCm39)	I596V	probably damaging	Het
Ctxn1	A	G	8: 4,308,514 (GRCm39)	L39P	probably damaging	Het
Efhb	A	T	17: 53,733,287 (GRCm39)	V528D	probably damaging	Het
Fmod	T	G	1: 133,968,001 (GRCm39)	S14A	probably benign	Het
Gcc2	A	G	10: 58,105,103 (GRCm39)	E77G	probably damaging	Het
Gm5420	G	T	10: 21,566,933 (GRCm39)		noncoding transcript	Het
Gm6434	T	G	7: 25,581,655 (GRCm39)		noncoding transcript	Het
Il1b	A	T	2: 129,211,662 (GRCm39)	N19K	possibly damaging	Het
Lama2	T	A	10: 26,860,322 (GRCm39)	D3055V	probably damaging	Het
Lcn3	G	A	2: 25,655,636 (GRCm39)	V18I	probably benign	Het
Lpcat2	A	G	8: 93,644,809 (GRCm39)	S533G	probably benign	Het
Map4k2	G	A	19: 6,401,348 (GRCm39)	R606Q	probably benign	Het
Mtnr1b	T	C	9: 15,774,589 (GRCm39)	T157A	probably benign	Het
Myo15a	G	A	11: 60,397,689 (GRCm39)	E2705K	probably damaging	Het
Ncf2	A	G	1: 152,711,871 (GRCm39)		probably benign	Het
Nfkbil1	G	A	17: 35,439,934 (GRCm39)	T193M	probably benign	Het
Nmi	T	G	2: 51,850,641 (GRCm39)	K9T	possibly damaging	Het
Or2d4	T	C	7: 106,543,320 (GRCm39)	D296G	possibly damaging	Het
Or5p69	T	C	7: 107,966,742 (GRCm39)	F15S	probably damaging	Het
Or6c6c	A	G	10: 129,541,104 (GRCm39)	D119G	probably damaging	Het
Osbpl7	T	A	11: 96,951,334 (GRCm39)	C502S	probably benign	Het
Pex5	A	T	6: 124,382,240 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,356,452 (GRCm39)		probably null	Het
Prmt3	C	T	7: 49,478,711 (GRCm39)	T424M	possibly damaging	Het
Rapgef4	G	A	2: 72,029,140 (GRCm39)	G404D	probably damaging	Het
Rbm5	C	T	9: 107,633,045 (GRCm39)		probably benign	Het
Rfc2	T	A	5: 134,623,098 (GRCm39)	F238L	probably benign	Het
Rsl1	A	G	13: 67,324,612 (GRCm39)	E46G	probably damaging	Het
Sall1	A	G	8: 89,758,097 (GRCm39)	F669S	probably damaging	Het
Sipa1l2	A	G	8: 126,218,558 (GRCm39)	S260P	probably benign	Het
Slc26a8	A	G	17: 28,861,225 (GRCm39)	Y820H	probably damaging	Het
Tas2r115	A	G	6: 132,714,430 (GRCm39)	F174L	probably benign	Het
Terb1	A	C	8: 105,221,746 (GRCm39)	C185G	probably damaging	Het
Vmn2r108	A	T	17: 20,683,398 (GRCm39)	V602E	probably damaging	Het
Vmn2r58	T	A	7: 41,514,703 (GRCm39)	I89F	probably damaging	Het
Vps13b	G	T	15: 35,423,391 (GRCm39)	R237L	probably damaging	Het
Zfp865	T	C	7: 5,034,372 (GRCm39)	S786P	probably benign	Het

Other mutations in Foxh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0112:Foxh1	UTSW	15	76,553,210 (GRCm39)	missense	probably benign	0.00
R0126:Foxh1	UTSW	15	76,553,454 (GRCm39)	missense	probably damaging	1.00
R2266:Foxh1	UTSW	15	76,552,820 (GRCm39)	missense	probably benign	0.00
R5223:Foxh1	UTSW	15	76,552,929 (GRCm39)	splice site	probably null
R5775:Foxh1	UTSW	15	76,554,049 (GRCm39)	missense	probably benign	0.44
R6666:Foxh1	UTSW	15	76,552,613 (GRCm39)	missense	probably damaging	1.00
R7528:Foxh1	UTSW	15	76,553,511 (GRCm39)	missense	probably benign	0.03
R8095:Foxh1	UTSW	15	76,553,208 (GRCm39)	nonsense	probably null
R8936:Foxh1	UTSW	15	76,552,719 (GRCm39)	unclassified	probably benign
R9287:Foxh1	UTSW	15	76,553,126 (GRCm39)	missense	probably damaging	0.99
R9429:Foxh1	UTSW	15	76,553,442 (GRCm39)	missense	probably null	0.16
R9647:Foxh1	UTSW	15	76,553,460 (GRCm39)	missense	possibly damaging	0.76
Z1177:Foxh1	UTSW	15	76,553,221 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07