Incidental Mutation 'R6666:Foxh1'
ID 526992
Institutional Source Beutler Lab
Gene Symbol Foxh1
Ensembl Gene ENSMUSG00000033837
Gene Name forkhead box H1
Synonyms Fast2
MMRRC Submission 044786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6666 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76552425-76554148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76552613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 367 (F367S)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: F367S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837
AA Change: F367S

DomainStartEndE-ValueType
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 0.4503 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (46/46)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik C A 10: 21,469,228 (GRCm39) probably null Het
Arhgap24 A G 5: 102,700,163 (GRCm39) probably null Het
Atp12a G T 14: 56,610,821 (GRCm39) V322L probably benign Het
Capza1 A C 3: 104,735,922 (GRCm39) probably null Het
Cela3a A T 4: 137,131,175 (GRCm39) S188T probably benign Het
Cplx1 G T 5: 108,668,031 (GRCm39) Y123* probably null Het
Ddias A T 7: 92,507,289 (GRCm39) D875E probably benign Het
Dnah3 T C 7: 119,670,172 (GRCm39) E715G probably benign Het
Fam83e A G 7: 45,376,426 (GRCm39) T380A probably benign Het
Fancd2 T C 6: 113,562,470 (GRCm39) V1270A probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gprc5a A G 6: 135,056,473 (GRCm39) I307V probably benign Het
Gtpbp3 A G 8: 71,943,582 (GRCm39) D212G possibly damaging Het
Helb A G 10: 119,920,856 (GRCm39) V1029A probably damaging Het
Il22ra1 A T 4: 135,477,772 (GRCm39) H281L probably damaging Het
Il2rb TAGTCA TAGTCAGTCA 15: 78,366,034 (GRCm39) probably null Het
Itga3 T C 11: 94,956,652 (GRCm39) T170A probably benign Het
Kdm3a T C 6: 71,588,974 (GRCm39) E345G probably benign Het
Kif11 T C 19: 37,398,214 (GRCm39) I680T probably benign Het
Klhl28 C T 12: 64,990,301 (GRCm39) D547N probably benign Het
Limk2 T A 11: 3,310,493 (GRCm39) E49D probably damaging Het
Lmbrd2 T A 15: 9,151,656 (GRCm39) F120I probably benign Het
Mefv T A 16: 3,525,862 (GRCm39) N802Y possibly damaging Het
Ms4a2 C T 19: 11,595,787 (GRCm39) S168N probably benign Het
Myct1 T C 10: 5,554,333 (GRCm39) S67P probably damaging Het
Myh4 A G 11: 67,142,638 (GRCm39) E933G probably damaging Het
Naif1 C A 2: 32,344,863 (GRCm39) T189K probably damaging Het
Nppb A G 4: 148,070,463 (GRCm39) I11V probably benign Het
Nr3c1 T C 18: 39,620,200 (GRCm39) D29G probably damaging Het
Nrcam A G 12: 44,618,338 (GRCm39) Y782C probably damaging Het
Or1af1 A T 2: 37,110,331 (GRCm39) I277F probably damaging Het
Or51e1 T C 7: 102,359,135 (GRCm39) probably null Het
Or9m1 T A 2: 87,733,852 (GRCm39) H56L probably damaging Het
Parp1 A G 1: 180,413,516 (GRCm39) T375A probably benign Het
Pcdhgb1 G T 18: 37,814,546 (GRCm39) E346* probably null Het
Pds5b G T 5: 150,701,631 (GRCm39) S754I probably damaging Het
Scnn1g G A 7: 121,366,611 (GRCm39) D603N probably benign Het
Slitrk5 A G 14: 111,917,534 (GRCm39) D386G probably damaging Het
Trmt1 T C 8: 85,425,083 (GRCm39) L493P probably damaging Het
Vrk1 A G 12: 106,024,910 (GRCm39) E262G probably damaging Het
Wfs1 T C 5: 37,124,963 (GRCm39) T567A possibly damaging Het
Zbtb11 A T 16: 55,826,615 (GRCm39) K846I probably damaging Het
Zfp318 A G 17: 46,720,140 (GRCm39) T1113A probably benign Het
Zfp654 A T 16: 64,606,596 (GRCm39) S535R probably benign Het
Other mutations in Foxh1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5775:Foxh1 UTSW 15 76,554,049 (GRCm39) missense probably benign 0.44
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'- CCTAGCTCTGGTTCATCAAAATG -3'
(R):5'- AGGATTCCGCAGATTCCAGG -3'

Sequencing Primer
(F):5'- TCATCAAAATGATATTCATGGGTGG -3'
(R):5'- TCCTTGTGGGGACAGCTAC -3'
Posted On 2018-07-23