Incidental Mutation 'R1339:Foxi1'
| ID |
156965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxi1
|
| Ensembl Gene |
ENSMUSG00000047861 |
| Gene Name |
forkhead box I1 |
| Synonyms |
Hfh3, HFH-3, Fkh10 |
| MMRRC Submission |
039404-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R1339 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
34154341-34158089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34155866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 255
(T255A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060271]
|
| AlphaFold |
Q922I5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060271
AA Change: T255A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058651
Gene: ENSMUSG00000047861
AA Change: T255A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.9%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,220,777 (GRCm39) |
N1385K |
probably benign |
Het |
| Cplane2 |
A |
G |
4: 140,945,859 (GRCm39) |
E134G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,468,760 (GRCm39) |
Y382C |
probably damaging |
Het |
| Dtnbp1 |
G |
A |
13: 45,076,696 (GRCm39) |
S237L |
probably damaging |
Het |
| Ifi208 |
A |
C |
1: 173,510,804 (GRCm39) |
T320P |
probably damaging |
Het |
| Inhbc |
C |
A |
10: 127,193,510 (GRCm39) |
V169L |
probably benign |
Het |
| Irf7 |
G |
A |
7: 140,843,617 (GRCm39) |
R320C |
probably damaging |
Het |
| Marchf6 |
T |
C |
15: 31,486,548 (GRCm39) |
T336A |
probably benign |
Het |
| Masp1 |
C |
A |
16: 23,271,217 (GRCm39) |
C677F |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,966,196 (GRCm39) |
R323G |
possibly damaging |
Het |
| Or2a7 |
G |
C |
6: 43,151,544 (GRCm39) |
G208A |
probably benign |
Het |
| Or6k8-ps1 |
G |
T |
1: 173,979,777 (GRCm39) |
G232C |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,155 (GRCm39) |
Y496H |
probably damaging |
Het |
| Rel |
C |
T |
11: 23,695,763 (GRCm39) |
C208Y |
probably damaging |
Het |
| Shc2 |
T |
G |
10: 79,462,250 (GRCm39) |
T298P |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,317,571 (GRCm39) |
L508F |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,199 (GRCm39) |
K74E |
probably damaging |
Het |
|
| Other mutations in Foxi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTGAAGACGGAGCCTCCATAG -3'
(R):5'- TGTTTGACAACGGAAACTTTCGCAG -3'
Sequencing Primer
(F):5'- TCCATAGCCCAGAGCATTG -3'
(R):5'- CGGAAACTTTCGCAGGAAGAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation