Mutagenetix > Incidental Mutation

Incidental Mutation 'R2266:Foxh1'

242066

Institutional Source

Beutler Lab

Gene Symbol

Foxh1

Ensembl Gene

ENSMUSG00000033837

Gene Name

forkhead box H1

Synonyms

Fast2

MMRRC Submission

040266-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76552425-76554148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76552820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 298 (V298A)

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: V298A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837
AA Change: V298A

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: ENSMUST00000230451

Predicted Effect

probably benign
Transcript: ENSMUST00000230964

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bsn	T	A	9: 107,992,323 (GRCm39)	D1143V	probably damaging	Het
Cacna2d2	T	C	9: 107,390,479 (GRCm39)	V317A	probably damaging	Het
Cdh1	G	A	8: 107,388,635 (GRCm39)	V564I	probably benign	Het
Cep250	T	C	2: 155,818,090 (GRCm39)	V814A	probably benign	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyb561d1	A	T	3: 108,106,720 (GRCm39)	H166Q	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgkd	A	G	1: 87,855,540 (GRCm39)		probably benign	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Ecpas	A	T	4: 58,830,332 (GRCm39)		probably null	Het
Eid1	A	G	2: 125,515,344 (GRCm39)	D78G	possibly damaging	Het
Emid1	T	A	11: 5,094,331 (GRCm39)	Q60L	probably damaging	Het
Fam135a	A	T	1: 24,067,878 (GRCm39)	V801E	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klra10	A	G	6: 130,246,264 (GRCm39)	V237A	probably benign	Het
Klre1	A	G	6: 129,562,593 (GRCm39)	K206R	probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Med23	T	G	10: 24,750,499 (GRCm39)	S109A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Naip6	A	G	13: 100,420,067 (GRCm39)	V1401A	possibly damaging	Het
Ncapg2	A	G	12: 116,393,296 (GRCm39)	E500G	probably damaging	Het
Nlrp12	T	C	7: 3,282,575 (GRCm39)	I775V	probably benign	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Polq	C	A	16: 36,882,515 (GRCm39)	Q1560K	possibly damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Ptprm	A	T	17: 67,032,846 (GRCm39)		probably null	Het
Ripk2	A	T	4: 16,152,011 (GRCm39)	S183T	possibly damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rttn	A	G	18: 89,082,295 (GRCm39)	N1407S	probably benign	Het
Sec14l1	A	T	11: 117,047,314 (GRCm39)	H664L	probably damaging	Het
Slc10a7	G	A	8: 79,236,264 (GRCm39)	G21S	probably benign	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spesp1	A	T	9: 62,180,834 (GRCm39)	L25M	probably damaging	Het
St6galnac1	G	A	11: 116,658,673 (GRCm39)	Q264*	probably null	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tnfsf13b	A	T	8: 10,057,306 (GRCm39)	R125S	probably benign	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Vmn1r38	G	T	6: 66,753,433 (GRCm39)	Q228K	probably benign	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Xrn1	A	G	9: 95,888,765 (GRCm39)	D948G	possibly damaging	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zfp418	G	A	7: 7,185,807 (GRCm39)	R590K	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
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

Predicted Primers

PCR Primer
(F):5'- TAGATCACAGAGCAGGTCCTG -3'
(R):5'- AGGCAGGCACCTTGTCAAAG -3'

Sequencing Primer
(F):5'- CTGGGACCCTTGGGATTCAG -3'
(R):5'- ATGGGCACTGGACCCTCTAG -3'

Posted On

2014-10-16