Incidental Mutation 'R8095:Foxh1'
ID 630166
Institutional Source Beutler Lab
Gene Symbol Foxh1
Ensembl Gene ENSMUSG00000033837
Gene Name forkhead box H1
Synonyms Fast2
MMRRC Submission 067527-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8095 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76552425-76554148 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 76553208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 169 (R169*)
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 null
Transcript: ENSMUST00000037824
AA Change: R169*
SMART Domains Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837
AA Change: R169*

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 probably benign
Transcript: ENSMUST00000230451
Predicted Effect probably benign
Transcript: ENSMUST00000230964
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,536,196 (GRCm39) I490M possibly damaging Het
Abcc9 T C 6: 142,590,048 (GRCm39) I817V probably benign Het
Atp11b T C 3: 35,888,565 (GRCm39) L945P probably damaging Het
Coa8 C A 12: 111,689,218 (GRCm39) A100D probably damaging Het
Crem T C 18: 3,295,106 (GRCm39) T108A probably benign Het
Cttnbp2 T A 6: 18,435,432 (GRCm39) K142M probably damaging Het
Cyp51 C T 5: 4,136,490 (GRCm39) E435K probably benign Het
Dnah14 G T 1: 181,633,597 (GRCm39) E11* probably null Het
Dpy19l1 T C 9: 24,396,160 (GRCm39) probably null Het
Dym A G 18: 75,247,872 (GRCm39) T259A possibly damaging Het
E030018B13Rik T G 7: 63,569,049 (GRCm39) H32Q unknown Het
Ehmt2 T G 17: 35,126,745 (GRCm39) H809Q probably damaging Het
Fabp6 G A 11: 43,489,543 (GRCm39) R33C probably damaging Het
Fam98a C A 17: 75,845,766 (GRCm39) D327Y probably damaging Het
Foxf1 C T 8: 121,813,551 (GRCm39) T357I probably benign Het
Hydin T C 8: 111,295,991 (GRCm39) F3568S probably damaging Het
Il22 T C 10: 118,041,028 (GRCm39) S45P possibly damaging Het
Isyna1 C A 8: 71,049,035 (GRCm39) Y371* probably null Het
Lingo3 T C 10: 80,671,255 (GRCm39) H225R probably benign Het
Lmo7 T A 14: 102,124,855 (GRCm39) V560E possibly damaging Het
Mab21l2 A G 3: 86,454,769 (GRCm39) V77A probably benign Het
Mapkbp1 A G 2: 119,848,131 (GRCm39) K595R probably benign Het
Mfsd2a A T 4: 122,845,064 (GRCm39) C216S probably damaging Het
Muc16 A T 9: 18,496,126 (GRCm39) Y6688* probably null Het
Or12j5 T C 7: 140,084,192 (GRCm39) Y60C probably damaging Het
Otud6b T C 4: 14,825,614 (GRCm39) D72G probably damaging Het
Pcdhgb6 A G 18: 37,875,924 (GRCm39) I211V probably benign Het
Ryr3 A G 2: 112,498,388 (GRCm39) probably null Het
Sardh T C 2: 27,132,730 (GRCm39) Y166C probably damaging Het
Scn1a T A 2: 66,132,809 (GRCm39) K171N possibly damaging Het
Scyl2 G T 10: 89,476,965 (GRCm39) T720K probably damaging Het
Slc9a8 T A 2: 167,310,891 (GRCm39) V384D probably damaging Het
Slco1a8 T A 6: 141,933,415 (GRCm39) I457F probably benign Het
Smg1 T C 7: 117,772,285 (GRCm39) Y1490C unknown Het
Snx16 A T 3: 10,503,244 (GRCm39) M1K probably null Het
Sqle A G 15: 59,193,276 (GRCm39) S218G probably benign Het
Strip1 A G 3: 107,525,455 (GRCm39) I527T possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnfsf13 A G 11: 69,575,983 (GRCm39) C35R probably damaging Het
Trf T C 9: 103,087,735 (GRCm39) Y673C probably damaging Het
Ttc39b C T 4: 83,164,557 (GRCm39) A252T probably benign Het
Tubgcp6 A T 15: 89,006,977 (GRCm39) L15H probably benign Het
Uspl1 C T 5: 149,150,992 (GRCm39) Q731* probably null Het
Vmn1r193 T C 13: 22,403,231 (GRCm39) R254G possibly damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp644 A C 5: 106,766,280 (GRCm39) V1234G possibly damaging 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
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
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'- TTTGACAAGGTGCCTGCCTG -3'
(R):5'- AATCGGTGCTTCCATAAGGTG -3'

Sequencing Primer
(F):5'- AAGGTGCCTGCCTGAGCTG -3'
(R):5'- CCCCGAATCTCTGGGTAGAACAG -3'
Posted On 2020-06-30