Incidental Mutation 'IGL01397:Foxi1'
ID 79480
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 # IGL01397
Quality Score
Status
Chromosome 11
Chromosomal Location 34154341-34158089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34157599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 142 (Q142L)
Ref Sequence ENSEMBL: ENSMUSP00000058651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060271]
AlphaFold Q922I5
Predicted Effect probably damaging
Transcript: ENSMUST00000060271
AA Change: Q142L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058651
Gene: ENSMUSG00000047861
AA Change: Q142L

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 127,876,811 (GRCm39) T436P possibly damaging Het
Afap1 T A 5: 36,126,052 (GRCm39) V349E probably damaging Het
Arfgef1 C T 1: 10,229,796 (GRCm39) V1302I probably benign Het
Atp11a T A 8: 12,862,321 (GRCm39) W58R probably damaging Het
Brpf3 A T 17: 29,036,606 (GRCm39) K670N probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Cep85 T C 4: 133,883,517 (GRCm39) E124G probably damaging Het
Crybb3 T C 5: 113,227,701 (GRCm39) E40G probably damaging Het
Dennd2d G T 3: 106,394,365 (GRCm39) probably null Het
Dhx34 A G 7: 15,944,468 (GRCm39) L582P probably damaging Het
Dst A G 1: 34,296,825 (GRCm39) K5738R probably damaging Het
Eif4g1 T A 16: 20,498,425 (GRCm39) L328Q probably damaging Het
Eya4 T C 10: 23,015,897 (GRCm39) K357E probably benign Het
F8 A G X: 74,423,145 (GRCm39) S25P probably benign Het
Fgd2 A G 17: 29,586,949 (GRCm39) E293G probably damaging Het
Gfm1 A G 3: 67,350,991 (GRCm39) E316G probably benign Het
Glb1l3 C T 9: 26,736,491 (GRCm39) D524N probably benign Het
Heatr5a A T 12: 51,941,152 (GRCm39) V1366D possibly damaging Het
Idh1 T C 1: 65,207,754 (GRCm39) T142A possibly damaging Het
Lamc1 C A 1: 153,126,880 (GRCm39) G422V probably damaging Het
Lars1 A T 18: 42,361,094 (GRCm39) H691Q probably damaging Het
Ltbp2 T C 12: 84,837,042 (GRCm39) Y1259C probably damaging Het
Muc19 T A 15: 91,778,498 (GRCm39) noncoding transcript Het
Nphs1 A G 7: 30,186,089 (GRCm39) D1240G probably benign Het
Or3a1b T A 11: 74,012,590 (GRCm39) N158K probably damaging Het
Or5w1 A T 2: 87,487,249 (GRCm39) N5K probably damaging Het
Pabir2 G A X: 52,349,088 (GRCm39) T121I probably damaging Het
Parp14 T C 16: 35,679,098 (GRCm39) N290S probably benign Het
Pex5l G A 3: 33,006,746 (GRCm39) T541I probably damaging Het
Plch1 A C 3: 63,639,150 (GRCm39) probably null Het
Ppp4r3b C T 11: 29,163,594 (GRCm39) A722V probably benign Het
Ptges3 T C 10: 127,906,069 (GRCm39) S85P probably benign Het
R3hdm2 C T 10: 127,294,719 (GRCm39) R201W probably damaging Het
Rcan2 C A 17: 44,147,359 (GRCm39) Q66K possibly damaging Het
Skint4 A G 4: 111,977,207 (GRCm39) N199S possibly damaging Het
Smc4 A G 3: 68,938,877 (GRCm39) T951A probably benign Het
Smg1 A T 7: 117,762,444 (GRCm39) probably benign Het
Snx30 T C 4: 59,894,526 (GRCm39) V368A probably benign Het
Spata31d1a C T 13: 59,849,552 (GRCm39) A859T probably damaging Het
Tg G A 15: 66,567,941 (GRCm39) probably benign Het
Tmem132b T C 5: 125,775,792 (GRCm39) V422A probably benign Het
Tnxb T C 17: 34,933,647 (GRCm39) S2356P probably damaging Het
Vmn1r122 A G 7: 20,867,707 (GRCm39) V116A possibly damaging Het
Washc2 A G 6: 116,224,959 (GRCm39) D683G probably benign Het
Wdr35 C A 12: 9,058,550 (GRCm39) T580K probably benign Het
Wwc2 T A 8: 48,321,311 (GRCm39) N601I unknown Het
Other mutations in Foxi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Foxi1 APN 11 34,155,772 (GRCm39) missense probably benign 0.17
IGL01374:Foxi1 APN 11 34,157,984 (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