Mutagenetix > Incidental Mutation

Incidental Mutation 'R1870:Foxi1'

210669

Institutional Source

Beutler Lab

Gene Symbol

Foxi1

Ensembl Gene

ENSMUSG00000047861

Gene Name

forkhead box I1

Synonyms

Hfh3, HFH-3, Fkh10

MMRRC Submission

039892-MU

Accession Numbers

Essential gene?

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

Stock #

R1870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34154341-34158089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34157937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 29 (N29K)

Ref Sequence

ENSEMBL: ENSMUSP00000058651 (fasta)

Gene Model

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

AlphaFold

Q922I5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060271
AA Change: N29K

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058651
Gene: ENSMUSG00000047861
AA Change: N29K

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

0.1795

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abca5	C	A	11: 110,220,043 (GRCm39)	V8L	probably benign	Het
Abcc8	C	T	7: 45,773,339 (GRCm39)	E797K	probably benign	Het
Acd	C	A	8: 106,425,039 (GRCm39)		probably null	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Alox12b	T	C	11: 69,049,199 (GRCm39)	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,178,297 (GRCm39)	S38T	probably damaging	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Bcan	T	C	3: 87,902,908 (GRCm39)	Y290C	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,953,561 (GRCm39)	D224A	probably damaging	Het
Ccar2	A	G	14: 70,377,946 (GRCm39)	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,368,703 (GRCm39)	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,150,730 (GRCm39)	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,263,386 (GRCm39)	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,926,058 (GRCm39)	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802 (GRCm39)	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 86,922,462 (GRCm39)	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dennd4a	C	T	9: 64,804,516 (GRCm39)	A1285V	probably benign	Het
Dlat	A	G	9: 50,548,874 (GRCm39)	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,823,347 (GRCm39)	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Dnase2a	T	C	8: 85,635,392 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Fam83f	T	C	15: 80,574,113 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,363 (GRCm39)	L545F	probably damaging	Het
Galk2	T	C	2: 125,817,183 (GRCm39)	L324P	probably benign	Het
Gdpd4	G	A	7: 97,622,162 (GRCm39)	V214I	probably benign	Het
Gfra3	C	T	18: 34,844,373 (GRCm39)	A56T	probably damaging	Het
Glyctk	A	G	9: 106,032,547 (GRCm39)	S489P	probably damaging	Het
Izumo4	A	T	10: 80,539,569 (GRCm39)	I135F	probably damaging	Het
Krt87	T	A	15: 101,385,071 (GRCm39)	T342S	probably benign	Het
L1td1	T	A	4: 98,625,714 (GRCm39)	D636E	possibly damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lpin1	A	G	12: 16,591,744 (GRCm39)	F828L	probably damaging	Het
Lrrc37	T	C	11: 103,511,431 (GRCm39)	D179G	unknown	Het
Mdn1	T	A	4: 32,763,339 (GRCm39)	D5146E	probably damaging	Het
Megf10	T	A	18: 57,324,257 (GRCm39)	Y99*	probably null	Het
Men1	A	G	19: 6,387,660 (GRCm39)	D285G	probably damaging	Het
Mertk	T	G	2: 128,643,116 (GRCm39)	D838E	probably benign	Het
Mta1	T	C	12: 113,091,694 (GRCm39)	S266P	possibly damaging	Het
Mta3	G	A	17: 84,089,397 (GRCm39)	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Or2m12	A	T	16: 19,105,357 (GRCm39)	N45K	probably damaging	Het
Or51e1	T	C	7: 102,358,961 (GRCm39)	I165T	possibly damaging	Het
Or8b38	A	T	9: 37,972,646 (GRCm39)	K10I	probably benign	Het
Or8d6	T	G	9: 39,854,117 (GRCm39)	I187R	probably damaging	Het
Pbrm1	T	A	14: 30,828,132 (GRCm39)	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,972 (GRCm39)	T297K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Pik3c3	T	C	18: 30,426,185 (GRCm39)		probably null	Het
Pira2	T	C	7: 3,847,452 (GRCm39)	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,700,632 (GRCm39)	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,940,353 (GRCm39)	I439V	probably benign	Het
Pold4	T	A	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Ppef2	T	G	5: 92,398,371 (GRCm39)	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,723,817 (GRCm39)	I2026F	possibly damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,771,202 (GRCm39)	V409A	probably benign	Het
Rnpc3	T	C	3: 113,404,704 (GRCm39)		probably benign	Het
S100a10	A	T	3: 93,468,377 (GRCm39)	E36V	probably benign	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scaper	T	A	9: 55,593,222 (GRCm39)	I472F	probably damaging	Het
Sgcg	G	A	14: 61,477,896 (GRCm39)		probably benign	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Shoc1	G	A	4: 59,054,142 (GRCm39)		probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slc41a2	G	A	10: 83,137,029 (GRCm39)	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509 (GRCm38)		probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Ssr2	T	C	3: 88,483,949 (GRCm39)		probably benign	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Tnfrsf9	T	A	4: 151,018,804 (GRCm39)	C158*	probably null	Het
Tradd	T	C	8: 105,985,792 (GRCm39)	E253G	possibly damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	C	6: 124,201,170 (GRCm39)	I262M	probably benign	Het
Vps13a	A	G	19: 16,737,316 (GRCm39)	V91A	probably damaging	Het
Vwf	C	T	6: 125,619,902 (GRCm39)	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,752,772 (GRCm39)	G763D	probably damaging	Het
Zfp526	T	G	7: 24,924,594 (GRCm39)	D284E	possibly damaging	Het
Zfp646	T	C	7: 127,483,021 (GRCm39)	F1733L	possibly damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zkscan4	A	G	13: 21,668,104 (GRCm39)	E185G	probably benign	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
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'- AGGAATATGGTGGGCGTACC -3'
(R):5'- GGTATAAGTCACAGGAGGCC -3'

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

Posted On

2014-06-30