Mutagenetix > Incidental Mutation

Incidental Mutation 'R4515:Foxi1'

332870

Institutional Source

Beutler Lab

Gene Symbol

Foxi1

Ensembl Gene

ENSMUSG00000047861

Gene Name

forkhead box I1

Synonyms

Hfh3, HFH-3, Fkh10

MMRRC Submission

041589-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R4515 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34154341-34158089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34157972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 18 (F18L)

Ref Sequence

ENSEMBL: ENSMUSP00000058651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060271]

AlphaFold

Q922I5

Predicted Effect

probably damaging
Transcript: ENSMUST00000060271
AA Change: F18L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058651
Gene: ENSMUSG00000047861
AA Change: F18L

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

Meta Mutation Damage Score

0.0836

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (65/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,646,006 (GRCm39)	K630N	probably damaging	Het
Acss2	C	A	2: 155,398,283 (GRCm39)	L335I	probably benign	Het
Alg6	A	T	4: 99,641,023 (GRCm39)		probably benign	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Bsn	G	T	9: 107,981,277 (GRCm39)		probably null	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cdhr4	G	A	9: 107,870,150 (GRCm39)	E52K	probably benign	Het
Ces1a	T	A	8: 93,747,532 (GRCm39)	N500Y	probably damaging	Het
Chd3	G	T	11: 69,240,703 (GRCm39)	R1579S	probably benign	Het
Chrnb3	T	C	8: 27,875,118 (GRCm39)	L39P	probably damaging	Het
Ckm	A	G	7: 19,154,209 (GRCm39)	K319E	probably damaging	Het
Cnot6	C	T	11: 49,593,363 (GRCm39)		probably null	Het
Copg1	A	G	6: 87,884,528 (GRCm39)		probably benign	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Dnah2	A	G	11: 69,356,457 (GRCm39)	S2135P	possibly damaging	Het
Dsg2	C	A	18: 20,734,444 (GRCm39)	D807E	probably benign	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Hemgn	T	C	4: 46,396,477 (GRCm39)	E253G	probably damaging	Het
Itsn1	G	A	16: 91,696,537 (GRCm39)	V47M	probably damaging	Het
Kif5b	A	G	18: 6,208,257 (GRCm39)	V947A	probably benign	Het
Kif9	A	G	9: 110,318,935 (GRCm39)	H133R	probably benign	Het
Lce1l	T	C	3: 92,757,781 (GRCm39)	T26A	unknown	Het
Macf1	T	C	4: 123,387,781 (GRCm39)	E1172G	probably damaging	Het
Nkx3-2	C	T	5: 41,921,281 (GRCm39)	V3M	probably damaging	Het
Nr2e1	G	A	10: 42,454,187 (GRCm39)	T49I	probably benign	Het
Oc90	A	G	15: 65,764,242 (GRCm39)	L138P	probably damaging	Het
Or7g12	T	G	9: 18,899,278 (GRCm39)		probably null	Het
Or8g34	C	T	9: 39,373,527 (GRCm39)	R264*	probably null	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Paqr3	T	A	5: 97,251,220 (GRCm39)	N168I	possibly damaging	Het
Pcdhac1	T	A	18: 37,224,432 (GRCm39)	I415N	probably damaging	Het
Pdik1l	T	C	4: 134,006,207 (GRCm39)	N75S	probably damaging	Het
Pik3r4	A	G	9: 105,549,924 (GRCm39)	H1005R	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Prkch	A	G	12: 73,749,612 (GRCm39)	T402A	possibly damaging	Het
Ptger4	C	A	15: 5,271,860 (GRCm39)	R253L	probably damaging	Het
Rabac1	A	T	7: 24,669,585 (GRCm39)	Y173*	probably null	Het
Rapsn	G	A	2: 90,873,557 (GRCm39)	V288M	possibly damaging	Het
Rnf26rt	C	T	6: 76,473,792 (GRCm39)	V275I	probably benign	Het
Sec31a	A	G	5: 100,513,817 (GRCm39)	S993P	probably damaging	Het
Septin4	A	G	11: 87,458,883 (GRCm39)	H419R	probably benign	Het
Serpina9	T	A	12: 103,967,553 (GRCm39)	M281L	probably benign	Het
Serpine1	G	A	5: 137,098,322 (GRCm39)	A117V	probably damaging	Het
Sh3tc2	A	G	18: 62,120,764 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,218,965 (GRCm39)	D124G	probably benign	Het
Slc6a12	T	A	6: 121,330,489 (GRCm39)		probably null	Het
Stk11	A	G	10: 79,952,435 (GRCm39)		probably benign	Het
Tcaf3	A	G	6: 42,566,930 (GRCm39)	Y720H	probably damaging	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmprss11a	C	T	5: 86,568,055 (GRCm39)	R224K	probably damaging	Het
Tmprss15	C	T	16: 78,754,244 (GRCm39)	S988N	probably benign	Het
Txn2	A	T	15: 77,799,643 (GRCm39)		probably null	Het
Ugt1a10	T	A	1: 87,983,919 (GRCm39)	V239E	probably damaging	Het
Vmn2r102	A	G	17: 19,901,475 (GRCm39)	Y534C	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	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
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
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'- AGGAATATGGTGGGCGTACC -3'
(R):5'- TTAGTGGGAACTAAGGCCACAG -3'

Sequencing Primer
(F):5'- TGGGCGTACCAGCTTCATGAG -3'
(R):5'- CCACAGGCAGCTAAGGC -3'

Posted On

2015-08-18