Mutagenetix > Incidental Mutation

Incidental Mutation 'R5775:Foxh1'

448752

Institutional Source

Beutler Lab

Gene Symbol

Foxh1

Ensembl Gene

ENSMUSG00000033837

Gene Name

forkhead box H1

Synonyms

Fast2

MMRRC Submission

043374-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5775 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

76552425-76554148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76554049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 8 (A8V)

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 benign
Transcript: ENSMUST00000037824
AA Change: A8V

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837
AA Change: A8V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (59/61)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,509,886 (GRCm39)	D753G	possibly damaging	Het
Arpc2	T	A	1: 74,295,108 (GRCm39)		probably null	Het
Atxn2	C	T	5: 121,951,512 (GRCm39)	T619M	probably damaging	Het
Cacna1s	T	C	1: 136,035,860 (GRCm39)	Y1120H	probably damaging	Het
Calm5	T	C	13: 3,904,435 (GRCm39)	L20S	probably damaging	Het
Carmil1	T	C	13: 24,460,520 (GRCm39)	I20V	probably benign	Het
Cd177	T	C	7: 24,451,693 (GRCm39)	E441G	probably damaging	Het
Cd63	T	A	10: 128,746,299 (GRCm39)	C9S	probably damaging	Het
Cep250	A	C	2: 155,811,294 (GRCm39)	D380A	possibly damaging	Het
Col5a3	G	T	9: 20,712,368 (GRCm39)	P509Q	unknown	Het
Cyp11b2	A	G	15: 74,725,327 (GRCm39)	V264A	probably benign	Het
Dennd6a	T	A	14: 26,340,528 (GRCm39)	L214*	probably null	Het
Dna2	A	G	10: 62,785,021 (GRCm39)	N46S	possibly damaging	Het
Elovl1	G	A	4: 118,288,094 (GRCm39)	V77I	probably benign	Het
Eml1	A	T	12: 108,472,813 (GRCm39)	Y207F	probably damaging	Het
Epha6	C	T	16: 59,639,357 (GRCm39)	R839Q	possibly damaging	Het
Erlec1	A	T	11: 30,893,848 (GRCm39)	S105T	probably benign	Het
Esp3	T	A	17: 40,944,468 (GRCm39)	S37T	possibly damaging	Het
Fut1	A	C	7: 45,268,886 (GRCm39)	D280A	probably damaging	Het
Gm13998	G	T	2: 119,708,892 (GRCm39)		noncoding transcript	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
H2az1	T	C	3: 137,571,380 (GRCm39)	Y61H	probably damaging	Het
Kcns1	T	C	2: 164,006,686 (GRCm39)	I426V	probably damaging	Het
Kdm4c	T	G	4: 74,277,668 (GRCm39)	V774G	probably damaging	Het
Mrc2	G	A	11: 105,228,639 (GRCm39)	V673I	probably benign	Het
Mtnr1b	G	A	9: 15,774,168 (GRCm39)	A297V	possibly damaging	Het
Or5d43	A	T	2: 88,105,045 (GRCm39)	M116K	probably damaging	Het
Or8b40	A	T	9: 38,027,423 (GRCm39)	E110D	probably damaging	Het
Osbpl5	A	T	7: 143,258,266 (GRCm39)	V346D	probably benign	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pmm1	A	T	15: 81,836,156 (GRCm39)	I152N	probably benign	Het
Pot1a	A	T	6: 25,757,297 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,803,780 (GRCm39)	L460I	probably benign	Het
Prrc2a	T	C	17: 35,377,463 (GRCm39)	D565G	unknown	Het
Psd	C	A	19: 46,303,211 (GRCm39)	E724*	probably null	Het
Rasa2	C	T	9: 96,459,521 (GRCm39)		probably null	Het
Rsbn1	A	T	3: 103,869,888 (GRCm39)	Q783L	possibly damaging	Het
Ryr2	T	C	13: 11,784,848 (GRCm39)	Y1035C	probably damaging	Het
Sec24d	C	T	3: 123,084,109 (GRCm39)	A96V	probably benign	Het
Sec61a2	A	T	2: 5,887,585 (GRCm39)		probably null	Het
Sec62	A	G	3: 30,847,436 (GRCm39)		probably benign	Het
Tcstv2a	T	A	13: 120,725,475 (GRCm39)	C46*	probably null	Het
Tmem132b	T	A	5: 125,715,394 (GRCm39)		probably null	Het
Tnip3	A	G	6: 65,591,741 (GRCm39)	S247G	probably benign	Het
Traf3	A	G	12: 111,219,162 (GRCm39)	K263R	possibly damaging	Het
Tubgcp3	A	T	8: 12,675,056 (GRCm39)	I713N	probably damaging	Het
Unc5c	A	G	3: 141,534,281 (GRCm39)	E860G	probably damaging	Het
Usp44	A	G	10: 93,681,840 (GRCm39)	S97G	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps37a	A	G	8: 40,982,160 (GRCm39)	H109R	probably damaging	Het
Wfikkn2	G	T	11: 94,129,114 (GRCm39)	D342E	probably benign	Het
Zfp354b	A	T	11: 50,813,647 (GRCm39)	F426Y	probably benign	Het
Zfp462	C	A	4: 55,010,590 (GRCm39)	T852N	probably damaging	Het
Zfp987	T	G	4: 146,061,505 (GRCm39)	S312R	probably benign	Het

Other mutations in Foxh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02041:Foxh1	APN	15	76,553,120 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCATGGCCAAGTAGGTGTAGG -3'
(R):5'- CAACCTGGGAGTGGAGATTG -3'

Sequencing Primer
(F):5'- AAAGAGACTCTGCCTCTG -3'
(R):5'- AGATTGATTTCGGGGGCCACC -3'

Posted On

2016-12-15