Mutagenetix > Incidental Mutation

Incidental Mutation 'R8283:Foxj1'

638328

Institutional Source

Beutler Lab

Gene Symbol

Foxj1

Ensembl Gene

ENSMUSG00000034227

Gene Name

forkhead box J1

Synonyms

FKHL-13, HFH-4, Hfh4

MMRRC Submission

067706-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116221530-116226225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116224893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 158 (F158Y)

Ref Sequence

ENSEMBL: ENSMUSP00000038351 (fasta)

Gene Model

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

AlphaFold

Q61660

Predicted Effect

probably benign
Transcript: ENSMUST00000036215
AA Change: F158Y

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000038351
Gene: ENSMUSG00000034227
AA Change: F158Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150775

SMART Domains

Protein: ENSMUSP00000123289
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
low complexity region	65	75	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,856,086 (GRCm39)	P65S	probably damaging	Het
Adcy3	A	T	12: 4,250,935 (GRCm39)	R565W	probably damaging	Het
Arl14	A	T	3: 69,129,868 (GRCm39)	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,082,250 (GRCm39)	E39G	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Boc	A	T	16: 44,340,800 (GRCm39)	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,854,097 (GRCm39)	V36A	probably damaging	Het
Ccdc183	G	A	2: 25,502,160 (GRCm39)	A238V	probably damaging	Het
Ccndbp1	A	G	2: 120,839,065 (GRCm39)		probably benign	Het
Ccr9	A	G	9: 123,608,696 (GRCm39)	Y126C	probably damaging	Het
Cdhr1	T	C	14: 36,804,737 (GRCm39)	N491S	probably benign	Het
Celsr2	C	T	3: 108,303,771 (GRCm39)	G2429D	probably damaging	Het
Cts6	T	C	13: 61,349,457 (GRCm39)	T84A	probably damaging	Het
Dcpp2	T	C	17: 24,118,384 (GRCm39)		probably null	Het
Drosha	A	G	15: 12,890,587 (GRCm39)	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,524,963 (GRCm39)	Q133R	probably benign	Het
Enpp1	T	A	10: 24,550,554 (GRCm39)	E174D	probably benign	Het
Esrrb	A	G	12: 86,468,732 (GRCm39)	H15R	probably benign	Het
Fbxl12	T	C	9: 20,550,017 (GRCm39)	T213A	probably benign	Het
Fnbp4	C	A	2: 90,577,115 (GRCm39)	T149K	probably damaging	Het
Frrs1	A	G	3: 116,671,952 (GRCm39)	T17A	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm45844	T	C	7: 7,244,901 (GRCm39)	Y11C	possibly damaging	Het
Hnrnpl	T	C	7: 28,513,697 (GRCm39)	V220A		Het
Iars2	T	A	1: 185,020,288 (GRCm39)	R949*	probably null	Het
Ice1	T	C	13: 70,752,549 (GRCm39)	E1179G	probably damaging	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mcmdc2	A	C	1: 10,004,263 (GRCm39)	K581T	possibly damaging	Het
Men1	A	T	19: 6,386,848 (GRCm39)	D186V	probably damaging	Het
Morc2b	T	G	17: 33,355,675 (GRCm39)	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,114,465 (GRCm39)	L89P	probably damaging	Het
Naip1	C	T	13: 100,563,695 (GRCm39)	G490E	probably damaging	Het
Ntm	T	C	9: 28,923,508 (GRCm39)	Y224C	probably damaging	Het
Nup88	A	T	11: 70,849,166 (GRCm39)	D262E	probably benign	Het
Or10ag52	T	C	2: 87,043,683 (GRCm39)	V149A	probably benign	Het
Or51l4	T	A	7: 103,404,019 (GRCm39)	I258L	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Oscp1	A	G	4: 125,980,393 (GRCm39)	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,940,694 (GRCm39)	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,501,548 (GRCm39)	F388I	probably benign	Het
Pgm2l1	C	G	7: 99,902,460 (GRCm39)	A136G	probably benign	Het
Phf14	T	G	6: 11,987,636 (GRCm39)	D638E	probably benign	Het
Pnpla7	A	G	2: 24,940,935 (GRCm39)	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Rnf187	T	A	11: 58,829,241 (GRCm39)	R124W	probably damaging	Het
Sema3a	T	C	5: 13,450,030 (GRCm39)	Y36H	probably damaging	Het
Setd7	T	G	3: 51,428,796 (GRCm39)	S345R	probably benign	Het
Sgms1	T	C	19: 32,137,035 (GRCm39)	D177G	probably damaging	Het
Snx19	T	C	9: 30,374,522 (GRCm39)	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sorl1	T	C	9: 41,942,294 (GRCm39)	D977G	probably damaging	Het
Sptan1	C	T	2: 29,870,212 (GRCm39)	R121W	probably damaging	Het
Srgap2	T	C	1: 131,291,771 (GRCm39)	D152G	probably damaging	Het
Suclg2	T	A	6: 95,474,700 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,034 (GRCm39)	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,825,353 (GRCm39)	A68V	probably benign	Het
Tex14	G	A	11: 87,365,241 (GRCm39)	D62N	probably damaging	Het
Thyn1	C	T	9: 26,918,155 (GRCm39)	T181I	probably benign	Het
Trio	T	A	15: 27,756,628 (GRCm39)	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,475,663 (GRCm39)	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,490,013 (GRCm39)	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,832,253 (GRCm39)	Y750N	probably damaging	Het
Wif1	G	A	10: 120,931,952 (GRCm39)	S292N	probably benign	Het
Xpo6	T	G	7: 125,727,421 (GRCm39)	Q528H	possibly damaging	Het

Other mutations in Foxj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01920:Foxj1	APN	11	116,222,746 (GRCm39)	missense	possibly damaging	0.68
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
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

Predicted Primers

PCR Primer
(F):5'- AACTTCGTCTGTACCTCCAGG -3'
(R):5'- CATCGTCGTGCACATCTCGAAG -3'

Sequencing Primer
(F):5'- AGCAGTTTCAGAACCTGGC -3'
(R):5'- ACATCTCGAAGCGCGCC -3'

Posted On

2020-07-28