Incidental Mutation 'IGL01397:Foxi1'
ID79480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxi1
Ensembl Gene ENSMUSG00000047861
Gene Nameforkhead box I1
SynonymsHfh3, Fkh10, HFH-3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.255) question?
Stock #IGL01397
Quality Score
Status
Chromosome11
Chromosomal Location34204338-34208089 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34207599 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 142 (Q142L)
Ref Sequence ENSEMBL: ENSMUSP00000058651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060271]
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: 128,034,891 T436P possibly damaging Het
Afap1 T A 5: 35,968,708 V349E probably damaging Het
Arfgef1 C T 1: 10,159,571 V1302I probably benign Het
Atp11a T A 8: 12,812,321 W58R probably damaging Het
Brpf3 A T 17: 28,817,632 K670N probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cenpp T C 13: 49,641,283 D136G probably damaging Het
Cep85 T C 4: 134,156,206 E124G probably damaging Het
Crybb3 T C 5: 113,079,835 E40G probably damaging Het
Dennd2d G T 3: 106,487,049 probably null Het
Dhx34 A G 7: 16,210,543 L582P probably damaging Het
Dst A G 1: 34,257,744 K5738R probably damaging Het
Eif4g1 T A 16: 20,679,675 L328Q probably damaging Het
Eya4 T C 10: 23,139,999 K357E probably benign Het
F8 A G X: 75,379,539 S25P probably benign Het
Fam122b G A X: 53,260,211 T121I probably damaging Het
Fgd2 A G 17: 29,367,975 E293G probably damaging Het
Gfm1 A G 3: 67,443,658 E316G probably benign Het
Glb1l3 C T 9: 26,825,195 D524N probably benign Het
Heatr5a A T 12: 51,894,369 V1366D possibly damaging Het
Idh1 T C 1: 65,168,595 T142A possibly damaging Het
Lamc1 C A 1: 153,251,134 G422V probably damaging Het
Lars A T 18: 42,228,029 H691Q probably damaging Het
Ltbp2 T C 12: 84,790,268 Y1259C probably damaging Het
Muc19 T A 15: 91,894,304 noncoding transcript Het
Nphs1 A G 7: 30,486,664 D1240G probably benign Het
Olfr1134 A T 2: 87,656,905 N5K probably damaging Het
Olfr401 T A 11: 74,121,764 N158K probably damaging Het
Parp14 T C 16: 35,858,728 N290S probably benign Het
Pex5l G A 3: 32,952,597 T541I probably damaging Het
Plch1 A C 3: 63,731,729 probably null Het
Ppp4r3b C T 11: 29,213,594 A722V probably benign Het
Ptges3 T C 10: 128,070,200 S85P probably benign Het
R3hdm2 C T 10: 127,458,850 R201W probably damaging Het
Rcan2 C A 17: 43,836,468 Q66K possibly damaging Het
Skint4 A G 4: 112,120,010 N199S possibly damaging Het
Smc4 A G 3: 69,031,544 T951A probably benign Het
Smg1 A T 7: 118,163,221 probably benign Het
Snx30 T C 4: 59,894,526 V368A probably benign Het
Spata31d1a C T 13: 59,701,738 A859T probably damaging Het
Tg G A 15: 66,696,092 probably benign Het
Tmem132b T C 5: 125,698,728 V422A probably benign Het
Tnxb T C 17: 34,714,673 S2356P probably damaging Het
Vmn1r122 A G 7: 21,133,782 V116A possibly damaging Het
Washc2 A G 6: 116,247,998 D683G probably benign Het
Wdr35 C A 12: 9,008,550 T580K probably benign Het
Wwc2 T A 8: 47,868,276 N601I unknown Het
Other mutations in Foxi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Foxi1 APN 11 34205772 missense probably benign 0.17
IGL01374:Foxi1 APN 11 34207984 missense probably damaging 1.00
IGL02626:Foxi1 APN 11 34205860 missense probably benign 0.00
R1339:Foxi1 UTSW 11 34205866 missense probably benign
R1771:Foxi1 UTSW 11 34207594 missense probably damaging 1.00
R1864:Foxi1 UTSW 11 34207531 missense probably damaging 1.00
R1869:Foxi1 UTSW 11 34207937 missense possibly damaging 0.61
R1870:Foxi1 UTSW 11 34207937 missense possibly damaging 0.61
R1871:Foxi1 UTSW 11 34207937 missense possibly damaging 0.61
R4515:Foxi1 UTSW 11 34207972 missense probably damaging 1.00
R4662:Foxi1 UTSW 11 34207578 missense probably damaging 1.00
R6280:Foxi1 UTSW 11 34207972 missense probably damaging 1.00
R7140:Foxi1 UTSW 11 34205758 missense probably damaging 1.00
R7268:Foxi1 UTSW 11 34205783 nonsense probably null
Z1176:Foxi1 UTSW 11 34207488 missense probably damaging 1.00
Z1177:Foxi1 UTSW 11 34207710 missense probably damaging 1.00
Posted On2013-11-05