Incidental Mutation 'IGL01374:Foxi1'
ID 78655
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxi1
Ensembl Gene ENSMUSG00000047861
Gene Name forkhead box I1
Synonyms Hfh3, HFH-3, Fkh10
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # IGL01374
Quality Score
Status
Chromosome 11
Chromosomal Location 34154341-34158089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34157984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 14 (C14G)
Ref Sequence ENSEMBL: ENSMUSP00000058651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060271]
AlphaFold Q922I5
Predicted Effect probably damaging
Transcript: ENSMUST00000060271
AA Change: C14G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058651
Gene: ENSMUSG00000047861
AA Change: C14G

DomainStartEndE-ValueType
FH 115 205 3.76e-60 SMART
low complexity region 207 227 N/A INTRINSIC
low complexity region 247 258 N/A INTRINSIC
Blast:FH 281 310 9e-8 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygotes exhibit 50% perinatal lethality and inner ear defects resulting in vestibular and cochlear dysfunction. They are deaf with signs of impaired balance, and develop renal tubular acidosis in response to a chronic acidic load. Notably, 25% of heterozygotes die at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,747,830 (GRCm39) H54R probably benign Het
Acsl6 T C 11: 54,229,245 (GRCm39) V359A probably damaging Het
Aldh3a2 C T 11: 61,139,828 (GRCm39) V435I probably benign Het
Atm A T 9: 53,443,024 (GRCm39) S80T possibly damaging Het
Atp8b4 A T 2: 126,225,577 (GRCm39) probably benign Het
Atxn1 T C 13: 45,721,903 (GRCm39) probably benign Het
Chd3 T C 11: 69,250,806 (GRCm39) E641G probably damaging Het
Clpb T C 7: 101,422,335 (GRCm39) V346A probably damaging Het
Ctnnbl1 T A 2: 157,678,613 (GRCm39) probably null Het
Cyp2b19 C T 7: 26,458,504 (GRCm39) P73L probably benign Het
Dcc T C 18: 71,507,624 (GRCm39) Y916C probably damaging Het
Fat4 A G 3: 38,941,647 (GRCm39) N180S probably damaging Het
Fut4 G T 9: 14,662,786 (GRCm39) F169L probably benign Het
Grip1 T C 10: 119,885,273 (GRCm39) S748P probably benign Het
Hnrnpr T C 4: 136,054,729 (GRCm39) probably benign Het
Ifnz G A 4: 88,701,578 (GRCm39) probably benign Het
Krt28 A G 11: 99,262,294 (GRCm39) V232A probably benign Het
Lyar C A 5: 38,385,391 (GRCm39) probably null Het
Manba G A 3: 135,260,541 (GRCm39) W575* probably null Het
Morc3 T A 16: 93,641,101 (GRCm39) D44E probably damaging Het
Mrc2 T A 11: 105,238,469 (GRCm39) Y1205* probably null Het
Myh2 A T 11: 67,068,250 (GRCm39) T293S probably benign Het
Nlrp10 T A 7: 108,523,788 (GRCm39) K564I possibly damaging Het
Nuak1 A G 10: 84,210,532 (GRCm39) S519P probably damaging Het
Or12k5 T C 2: 36,894,942 (GRCm39) H228R probably benign Het
Or9m2 T C 2: 87,820,892 (GRCm39) F146L probably benign Het
Padi2 T A 4: 140,660,496 (GRCm39) N325K probably damaging Het
Pcdhb19 A T 18: 37,631,042 (GRCm39) Y279F probably damaging Het
Phldb1 A G 9: 44,607,464 (GRCm39) L1247P probably damaging Het
Rmdn3 A G 2: 118,984,428 (GRCm39) V108A probably damaging Het
Slc22a5 A G 11: 53,758,490 (GRCm39) F437L probably benign Het
Slc3a2 C T 19: 8,690,701 (GRCm39) probably null Het
Slc5a3 T A 16: 91,874,006 (GRCm39) M21K probably benign Het
Spink5 T A 18: 44,122,471 (GRCm39) F312Y possibly damaging Het
Stab1 T C 14: 30,869,032 (GRCm39) Y1531C probably damaging Het
Tln2 C A 9: 67,169,205 (GRCm39) A433S probably damaging Het
Usp24 C T 4: 106,237,296 (GRCm39) L1076F possibly damaging Het
Vmn2r117 T C 17: 23,697,356 (GRCm39) Y112C possibly damaging Het
Vmn2r16 C T 5: 109,478,283 (GRCm39) L13F probably benign Het
Vmn2r76 T C 7: 85,874,857 (GRCm39) M707V probably benign Het
Zmym4 A T 4: 126,762,750 (GRCm39) F1358I probably damaging Het
Other mutations in Foxi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Foxi1 APN 11 34,155,772 (GRCm39) missense probably benign 0.17
IGL01397:Foxi1 APN 11 34,157,599 (GRCm39) missense probably damaging 1.00
IGL02626:Foxi1 APN 11 34,155,860 (GRCm39) missense probably benign 0.00
R1339:Foxi1 UTSW 11 34,155,866 (GRCm39) missense probably benign
R1771:Foxi1 UTSW 11 34,157,594 (GRCm39) missense probably damaging 1.00
R1864:Foxi1 UTSW 11 34,157,531 (GRCm39) missense probably damaging 1.00
R1869:Foxi1 UTSW 11 34,157,937 (GRCm39) missense possibly damaging 0.61
R1870:Foxi1 UTSW 11 34,157,937 (GRCm39) missense possibly damaging 0.61
R1871:Foxi1 UTSW 11 34,157,937 (GRCm39) missense possibly damaging 0.61
R4515:Foxi1 UTSW 11 34,157,972 (GRCm39) missense probably damaging 1.00
R4662:Foxi1 UTSW 11 34,157,578 (GRCm39) missense probably damaging 1.00
R6280:Foxi1 UTSW 11 34,157,972 (GRCm39) missense probably damaging 1.00
R7140:Foxi1 UTSW 11 34,155,758 (GRCm39) missense probably damaging 1.00
R7268:Foxi1 UTSW 11 34,155,783 (GRCm39) nonsense probably null
R8379:Foxi1 UTSW 11 34,157,530 (GRCm39) missense possibly damaging 0.94
R9443:Foxi1 UTSW 11 34,155,671 (GRCm39) missense probably benign 0.30
Z1176:Foxi1 UTSW 11 34,157,488 (GRCm39) missense probably damaging 1.00
Z1177:Foxi1 UTSW 11 34,157,710 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05