Mutagenetix > Incidental Mutations

Incidental Mutation 'R7528:Foxh1'

583152

Institutional Source

Beutler Lab

Gene Symbol

Foxh1

Ensembl Gene

ENSMUSG00000033837

Gene Name

forkhead box H1

Synonyms

Fast2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76668225-76669948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76669311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 97 (V97A)

Ref Sequence

ENSEMBL: ENSMUSP00000036591 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000037824
AA Change: V97A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837
AA Change: V97A

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

probably benign
Transcript: ENSMUST00000230451

Predicted Effect

probably benign
Transcript: ENSMUST00000230964

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,529,905	E920G	probably damaging	Het
Acss2	A	C	2: 155,557,146	N443H	probably damaging	Het
Adam3	C	A	8: 24,677,263	A71S	unknown	Het
Agpat3	A	G	10: 78,287,912	L38P	probably damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Amtn	C	A	5: 88,378,852		probably null	Het
App	T	G	16: 84,978,258	Y497S	possibly damaging	Het
Bphl	T	A	13: 34,060,490	Y197N	probably damaging	Het
Btrc	T	A	19: 45,503,086	M160K	possibly damaging	Het
Ccdc181	A	C	1: 164,279,958	N70T	probably benign	Het
Cd55b	T	C	1: 130,419,736	N113D	possibly damaging	Het
Ctrb1	T	A	8: 111,687,151	I194F	probably benign	Het
Dnah2	T	C	11: 69,500,796	H691R	probably damaging	Het
Dnajc13	A	G	9: 104,178,965	V1579A	possibly damaging	Het
Dst	T	A	1: 34,294,522	F5030I	probably damaging	Het
Eppk1	G	A	15: 76,120,108		probably benign	Het
Fbxw4	T	C	19: 45,660,010	E7G	unknown	Het
Fos	T	A	12: 85,475,658	C154S	probably damaging	Het
Gmeb1	G	A	4: 132,232,050	T231I	possibly damaging	Het
Golga3	T	A	5: 110,212,232	V1112E	probably damaging	Het
Gprin3	T	C	6: 59,354,032	D430G	possibly damaging	Het
Hpse2	T	C	19: 42,813,024	D441G	probably damaging	Het
Hydin	G	A	8: 110,380,572	W460*	probably null	Het
Ifi204	T	C	1: 173,751,840	I480V	probably benign	Het
Impg2	T	C	16: 56,260,380	V849A	possibly damaging	Het
Kars	T	C	8: 112,011,234	D12G	probably benign	Het
Klhdc7a	A	T	4: 139,967,517	Y40N	probably damaging	Het
Krtap5-3	T	C	7: 142,201,482	C19R	unknown	Het
Macf1	G	A	4: 123,432,059	A5217V	possibly damaging	Het
Mlc1	A	T	15: 88,974,507	I146N	possibly damaging	Het
Myo3a	A	T	2: 22,266,114	R129*	probably null	Het
Nsun4	G	T	4: 116,034,194	Y329*	probably null	Het
Olfr681	T	C	7: 105,121,864	Y136H	probably damaging	Het
Olfr728	A	G	14: 50,139,820	V273A	possibly damaging	Het
Pard3	G	A	8: 127,603,165	R1214H	probably damaging	Het
Phf20	T	A	2: 156,303,008	Y845*	probably null	Het
Pik3c2a	A	G	7: 116,394,239	I431T	probably damaging	Het
Plxna2	A	G	1: 194,812,156	S1894G	probably damaging	Het
Ppp1r7	C	T	1: 93,354,401	Q225*	probably null	Het
Ppp4r1	C	A	17: 65,813,498	T209K	probably damaging	Het
Prc1	T	C	7: 80,300,435		probably null	Het
Prex2	T	G	1: 11,204,092	D1329E	probably damaging	Het
Ptch1	C	T	13: 63,511,714	R1375H	probably benign	Het
Rab24	A	T	13: 55,321,108	C87S	probably damaging	Het
Rnf43	A	T	11: 87,732,128	Y558F	probably benign	Het
Serpinb6e	T	C	13: 33,832,491	I420V	possibly damaging	Het
Slain2	C	A	5: 72,914,800	S59*	probably null	Het
Slfn3	A	G	11: 83,214,905	D576G	probably benign	Het
Sptbn4	A	G	7: 27,442,535	M11T	probably benign	Het
Tdh	T	C	14: 63,494,011	D238G	probably damaging	Het
Top2b	T	A	14: 16,395,427	Y337*	probably null	Het
Trav15-2-dv6-2	A	C	14: 53,649,851	Y76S	probably benign	Het
Vmn1r172	G	T	7: 23,659,764	G25C	probably damaging	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vps13d	T	C	4: 145,091,922	E3125G		Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp142	T	C	1: 74,570,902	T1245A	probably benign	Het
Zfp960	C	T	17: 17,087,563	H180Y	possibly damaging	Het

Other mutations in Foxh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02041:Foxh1	APN	15	76668920	missense	probably damaging	1.00
R0112:Foxh1	UTSW	15	76669010	missense	probably benign	0.00
R0126:Foxh1	UTSW	15	76669254	missense	probably damaging	1.00
R2266:Foxh1	UTSW	15	76668620	missense	probably benign	0.00
R5223:Foxh1	UTSW	15	76668729	splice site	probably null
R5775:Foxh1	UTSW	15	76669849	missense	probably benign	0.44
R6666:Foxh1	UTSW	15	76668413	missense	probably damaging	1.00
R8095:Foxh1	UTSW	15	76669008	nonsense	probably null
R8936:Foxh1	UTSW	15	76668519	unclassified	probably benign
R9287:Foxh1	UTSW	15	76668926	missense	probably damaging	0.99
R9429:Foxh1	UTSW	15	76669242	missense	probably null	0.16
Z1177:Foxh1	UTSW	15	76669021	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACCTAGAGAGTGGTTGGCTTG -3'
(R):5'- TTACTGTAGGCTCACGCTTGG -3'

Sequencing Primer
(F):5'- GGCTGTGGCTGTTCTACCCAG -3'
(R):5'- ATCCTTGCCTGTGAGAACG -3'

Posted On

2019-10-17