Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01920:Foxj1'

180079

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxj1

Ensembl Gene

ENSMUSG00000034227

Gene Name

forkhead box J1

Synonyms

FKHL-13, HFH-4, Hfh4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01920

Quality Score

Status

Chromosome

Chromosomal Location

116221530-116226225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116222746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 352 (H352Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036215] [ENSMUST00000100202] [ENSMUST00000106398]

AlphaFold

Q61660

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036215
AA Change: H352Q

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038351
Gene: ENSMUSG00000034227
AA Change: H352Q

Domain	Start	End	E-Value	Type
low complexity region	10	26	N/A	INTRINSIC
FH	119	209	3.8e-56	SMART
low complexity region	246	271	N/A	INTRINSIC
low complexity region	291	303	N/A	INTRINSIC
low complexity region	316	340	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100202

SMART Domains

Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
RING	277	315	5.64e-4	SMART
low complexity region	345	358	N/A	INTRINSIC
low complexity region	427	444	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106398

SMART Domains

Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
RING	277	315	5.64e-4	SMART
low complexity region	345	358	N/A	INTRINSIC
low complexity region	427	444	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149147

SMART Domains

Protein: ENSMUSP00000122483
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
RING	102	140	5.64e-4	SMART
low complexity region	170	183	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	377	387	N/A	INTRINSIC

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 encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]
PHENOTYPE: Animals homozygous for targeted mutations in this gene exhibit random determination of left-right asymmetry and defective ciliogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	C	T	8: 111,769,878 (GRCm39)	R326W	probably damaging	Het
Acad11	T	C	9: 103,941,104 (GRCm39)		probably null	Het
Acat2	A	G	17: 13,162,912 (GRCm39)	I312T	probably benign	Het
Adgrl3	T	C	5: 81,613,143 (GRCm39)	V192A	probably damaging	Het
Akap1	T	C	11: 88,730,459 (GRCm39)	H643R	probably damaging	Het
Akap7	A	T	10: 25,165,501 (GRCm39)	C85*	probably null	Het
Ankrd11	T	C	8: 123,642,636 (GRCm39)		probably benign	Het
Ano1	G	A	7: 144,165,191 (GRCm39)		probably benign	Het
Csnk1g2	T	C	10: 80,474,262 (GRCm39)	L161P	probably damaging	Het
Dvl2	A	G	11: 69,898,873 (GRCm39)	H420R	probably benign	Het
Fam135b	G	T	15: 71,493,885 (GRCm39)	H15N	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Hectd1	T	C	12: 51,829,337 (GRCm39)	I969M	probably damaging	Het
Kcnh3	C	A	15: 99,131,258 (GRCm39)	P544T	probably benign	Het
Or7g35	A	C	9: 19,496,318 (GRCm39)	M162L	probably benign	Het
Pcnt	A	G	10: 76,240,362 (GRCm39)	L1224P	probably damaging	Het
Prss2	A	G	6: 41,501,477 (GRCm39)	N182S	possibly damaging	Het
Sgsm1	A	T	5: 113,421,471 (GRCm39)	W594R	probably damaging	Het
Slc38a1	C	T	15: 96,484,778 (GRCm39)	A261T	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Vcan	C	T	13: 89,837,324 (GRCm39)	G2740E	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vwa7	G	A	17: 35,243,579 (GRCm39)	V729I	probably benign	Het

Other mutations in Foxj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02416:Foxj1	APN	11	116,222,829 (GRCm39)	missense	probably benign
R0386:Foxj1	UTSW	11	116,222,629 (GRCm39)	missense	possibly damaging	0.95
R0615:Foxj1	UTSW	11	116,224,908 (GRCm39)	missense	possibly damaging	0.56
R5352:Foxj1	UTSW	11	116,224,905 (GRCm39)	missense	possibly damaging	0.85
R7062:Foxj1	UTSW	11	116,222,819 (GRCm39)	missense	probably benign
R7161:Foxj1	UTSW	11	116,223,234 (GRCm39)	missense	probably damaging	1.00
R7190:Foxj1	UTSW	11	116,223,201 (GRCm39)	missense	possibly damaging	0.90
R7399:Foxj1	UTSW	11	116,223,080 (GRCm39)	missense	possibly damaging	0.94
R8016:Foxj1	UTSW	11	116,222,675 (GRCm39)	missense	probably damaging	1.00
R8283:Foxj1	UTSW	11	116,224,893 (GRCm39)	missense	probably benign	0.00
R9147:Foxj1	UTSW	11	116,225,236 (GRCm39)	missense	probably damaging	1.00
R9380:Foxj1	UTSW	11	116,222,547 (GRCm39)	missense	possibly damaging	0.78
Z1177:Foxj1	UTSW	11	116,223,093 (GRCm39)	missense	probably benign

Posted On

2014-05-07