Mutagenetix > Incidental Mutations

Incidental Mutation 'R8936:Foxh1'

680676

Institutional Source

Beutler Lab

Gene Symbol

Foxh1

Ensembl Gene

ENSMUSG00000033837

Gene Name

forkhead box H1

Synonyms

Fast2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8936 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76668225-76669948 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 76668519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155559 (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

SMART Domains

Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837
AA Change: T332A

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: 98.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	G	A	14: 49,770,567	T483I	probably damaging	Het
4833427G06Rik	A	G	9: 51,099,998		probably null	Het
Abcc2	A	G	19: 43,808,662	K491E	probably benign	Het
Abcd3	T	C	3: 121,775,468	I374V	probably benign	Het
Adam34	G	A	8: 43,651,402	T402I	probably benign	Het
Angptl7	G	T	4: 148,497,333	H199N	probably benign	Het
Ankrd11	A	G	8: 122,895,101	C671R	possibly damaging	Het
Anxa7	G	A	14: 20,471,427	P67L	unknown	Het
Ap3d1	T	A	10: 80,712,118	Q913H	probably benign	Het
Arhgef37	A	G	18: 61,523,877	I39T	probably damaging	Het
BC049762	A	G	11: 51,254,422	S113P	probably damaging	Het
C3ar1	T	A	6: 122,851,085	T58S	probably damaging	Het
Caap1	A	T	4: 94,501,095	L334Q	probably damaging	Het
Ccr1	A	T	9: 123,963,845	I216K	probably damaging	Het
Cdh9	T	A	15: 16,831,076		probably null	Het
Cept1	A	G	3: 106,504,605	F351S	possibly damaging	Het
Cfap61	A	G	2: 145,949,959	D112G	possibly damaging	Het
Cul9	T	A	17: 46,528,602	S817C	possibly damaging	Het
Dido1	A	G	2: 180,661,402	S1570P	probably benign	Het
Disc1	A	G	8: 125,088,015	D206G	probably damaging	Het
Dock5	T	A	14: 67,845,990	R157*	probably null	Het
Dpp6	A	G	5: 27,721,142	D738G	probably damaging	Het
Enpep	A	G	3: 129,332,235	F83L	possibly damaging	Het
F10	G	T	8: 13,045,086	W81L	probably damaging	Het
Fam129c	T	A	8: 71,607,663		probably benign	Het
Fam217a	T	C	13: 34,911,164	D356G	probably damaging	Het
Fes	T	C	7: 80,381,725	E467G	probably damaging	Het
Fignl2	A	T	15: 101,053,458	D314E	unknown	Het
Gdpd5	T	C	7: 99,459,992	L573P	probably benign	Het
Gigyf1	T	A	5: 137,525,207	S934T	probably damaging	Het
Gm7356	C	T	17: 14,001,675	V31I	probably benign	Het
Hoxa2	C	A	6: 52,163,537	K156N	probably damaging	Het
Ifi203	G	A	1: 173,929,291		probably benign	Het
Il5ra	A	T	6: 106,715,643	D380E	possibly damaging	Het
Ino80c	C	A	18: 24,121,808		probably benign	Het
Kif18a	T	A	2: 109,333,621	W772R	probably benign	Het
Lipo3	G	T	19: 33,580,480	Q171K	probably damaging	Het
Mga	A	T	2: 119,964,228	T2798S	probably damaging	Het
Mybpc1	T	A	10: 88,558,575	T297S	probably benign	Het
Myh7	T	G	14: 54,990,983	Q222P	probably benign	Het
N4bp2l2	T	C	5: 150,661,897	D206G	probably benign	Het
Nacc2	G	C	2: 26,062,204	T380S	probably benign	Het
Nkpd1	T	A	7: 19,521,950	D186E	probably damaging	Het
Nol10	A	T	12: 17,416,862	E581V	probably benign	Het
Ntrk1	A	T	3: 87,786,059	N255K	possibly damaging	Het
Nudt5	T	G	2: 5,864,417	D151E	probably benign	Het
Obscn	A	T	11: 59,002,032	L6796Q	probably benign	Het
Olfr730	A	G	14: 50,186,542	I225T	possibly damaging	Het
Olfr763	C	T	10: 129,011,933	A216V	probably benign	Het
Oxct2b	A	G	4: 123,117,045	T253A	probably benign	Het
Patl1	G	A	19: 11,914,361	C10Y	probably damaging	Het
Pikfyve	A	G	1: 65,271,268	R1905G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,538,916	E2228G	possibly damaging	Het
Plcg1	A	G	2: 160,748,066	K135E	probably benign	Het
Proz	A	G	8: 13,065,319	T112A	probably benign	Het
Prune2	A	G	19: 17,121,835	N1568D	probably benign	Het
Rbm4	A	G	19: 4,787,511	V431A	probably benign	Het
Rgs19	G	T	2: 181,691,265	C40*	probably null	Het
Rimbp3	T	A	16: 17,213,020	I1436K	probably benign	Het
Rnps1	T	A	17: 24,422,202	M192K	probably damaging	Het
Rrad	C	T	8: 104,628,590	R262Q	possibly damaging	Het
Slc17a9	G	A	2: 180,738,417	V318I	probably benign	Het
Slc5a12	A	G	2: 110,637,110	I412V	probably damaging	Het
Smc4	T	A	3: 69,018,158	N329K	probably benign	Het
St3gal4	G	A	9: 35,053,427	R165W	probably damaging	Het
Strbp	G	A	2: 37,603,937	R375*	probably null	Het
Tacc2	A	G	7: 130,626,637	N1684S	possibly damaging	Het
Tet1	A	T	10: 62,840,284	L671*	probably null	Het
Tex2	C	A	11: 106,567,318	E429*	probably null	Het
Tgm4	T	C	9: 123,040,476	I40T	possibly damaging	Het
Tmem132d	C	T	5: 127,792,612	D553N	probably damaging	Het
Tnks	A	T	8: 34,853,347	Y723*	probably null	Het
Tnks1bp1	A	T	2: 85,063,976	T1416S	probably benign	Het
Tnxb	T	A	17: 34,685,672	L1137Q	probably damaging	Het
Tor4a	A	C	2: 25,195,190	C68G	probably damaging	Het
Tubb2b	A	C	13: 34,128,462	V116G	probably damaging	Het
Upb1	T	A	10: 75,414,993	S99T	probably benign	Het
Vmn1r31	T	A	6: 58,472,098	I261F	unknown	Het
Vmn1r53	T	C	6: 90,223,589	Y251C	probably benign	Het
Vmn2r58	T	C	7: 41,864,557	R221G		Het
Vmn2r88	A	T	14: 51,418,526	I740F	possibly damaging	Het
Zfp644	C	T	5: 106,635,637	G1015R	probably damaging	Het
Zfy1	T	C	Y: 738,726	D160G	unknown	Het
Zscan25	T	A	5: 145,286,390	V156E	probably damaging	Het
Zyg11b	A	T	4: 108,252,159	F443I		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
R7528:Foxh1	UTSW	15	76669311	missense	probably benign	0.03
R8095:Foxh1	UTSW	15	76669008	nonsense	probably null
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'- ATTACATGCTGTACCAGGAAAGG -3'
(R):5'- GGAGGTAATCAGGCCTTCTC -3'

Sequencing Primer
(F):5'- CTGTACCAGGAAAGGAGCCAGC -3'
(R):5'- GGTAATCAGGCCTTCTCCCGTC -3'

Posted On

2021-08-31