Mutagenetix > Incidental Mutation

Incidental Mutation 'R0615:Foxj1'

55030

Institutional Source

Beutler Lab

Gene Symbol

Foxj1

Ensembl Gene

ENSMUSG00000034227

Gene Name

forkhead box J1

Synonyms

FKHL-13, HFH-4, Hfh4

MMRRC Submission

038804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116221530-116226225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116224908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 153 (D153G)

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: D153G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038351
Gene: ENSMUSG00000034227
AA Change: D153G

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

noncoding transcript
Transcript: ENSMUST00000137264

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

Meta Mutation Damage Score

0.1661

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (57/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	C	19: 42,040,962 (GRCm39)	I31T	possibly damaging	Het
Abca13	A	G	11: 9,206,197 (GRCm39)	I166V	probably damaging	Het
Acaa2	G	T	18: 74,931,517 (GRCm39)	V238L	probably benign	Het
Ahsg	A	T	16: 22,717,805 (GRCm39)	I296F	possibly damaging	Het
Aspm	T	A	1: 139,415,027 (GRCm39)	V1436D	probably damaging	Het
Ate1	A	T	7: 130,115,563 (GRCm39)		probably benign	Het
Atosa	T	A	9: 74,911,570 (GRCm39)	Y14N	probably damaging	Het
Atp1a4	A	T	1: 172,059,627 (GRCm39)		probably benign	Het
Aurkc	A	T	7: 7,005,402 (GRCm39)	I223L	possibly damaging	Het
Bckdha	G	T	7: 25,341,210 (GRCm39)	D50E	probably benign	Het
Brf2	C	T	8: 27,614,059 (GRCm39)	E376K	probably benign	Het
Cdk9	C	A	2: 32,599,813 (GRCm39)	L141F	possibly damaging	Het
Cgn	A	C	3: 94,678,024 (GRCm39)		probably benign	Het
Clcn1	G	A	6: 42,282,509 (GRCm39)	V526I	probably damaging	Het
Cnot2	A	G	10: 116,334,141 (GRCm39)	V343A	possibly damaging	Het
Commd2	A	T	3: 57,554,116 (GRCm39)	V195D	possibly damaging	Het
Cubn	C	T	2: 13,365,063 (GRCm39)		probably null	Het
Eif2ak4	C	T	2: 118,266,666 (GRCm39)	T729M	probably damaging	Het
Elac1	A	T	18: 73,871,954 (GRCm39)	V347E	probably damaging	Het
Fam209	T	C	2: 172,316,053 (GRCm39)	S143P	probably benign	Het
Fam20c	G	A	5: 138,793,241 (GRCm39)	R454Q	probably damaging	Het
Faxc	C	T	4: 21,958,608 (GRCm39)	S255L	probably benign	Het
Fem1al	C	A	11: 29,774,515 (GRCm39)	R314L	probably damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Lmo7	T	A	14: 102,114,295 (GRCm39)	Y12*	probably null	Het
Matn3	T	G	12: 9,013,594 (GRCm39)	C425W	probably damaging	Het
Mmd2	A	T	5: 142,550,668 (GRCm39)	M190K	probably benign	Het
Morn2	A	T	17: 80,603,026 (GRCm39)	T102S	probably damaging	Het
Nr3c2	A	C	8: 77,912,518 (GRCm39)	T710P	probably benign	Het
Nrros	C	A	16: 31,962,903 (GRCm39)	L343F	probably damaging	Het
Ntrk2	C	T	13: 59,276,000 (GRCm39)	Q767*	probably null	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4k47	C	T	2: 111,452,264 (GRCm39)	D52N	possibly damaging	Het
Plekhf2	C	T	4: 10,991,330 (GRCm39)	R4H	probably benign	Het
Ppox	A	G	1: 171,105,387 (GRCm39)		probably benign	Het
Qprt	T	A	7: 126,708,248 (GRCm39)	D61V	probably damaging	Het
Reln	A	G	5: 22,215,148 (GRCm39)	V1101A	probably benign	Het
Sbno1	T	C	5: 124,548,202 (GRCm39)	N124D	probably damaging	Het
Scx	C	T	15: 76,342,295 (GRCm39)	P165L	probably benign	Het
Sema6d	T	C	2: 124,496,055 (GRCm39)		probably benign	Het
Serf2	T	C	2: 121,281,336 (GRCm39)	F92L	probably benign	Het
Synpo2	A	T	3: 122,910,936 (GRCm39)	N236K	probably damaging	Het
Tbc1d32	C	A	10: 56,100,736 (GRCm39)	D81Y	probably benign	Het
Terf2	G	A	8: 107,809,622 (GRCm39)	T232I	possibly damaging	Het
Tpd52l2	A	G	2: 181,143,744 (GRCm39)	E50G	probably damaging	Het
Tprn	A	G	2: 25,154,210 (GRCm39)	E504G	probably damaging	Het
Tufm	G	T	7: 126,086,654 (GRCm39)	R12L	probably benign	Het
Vmn2r8	A	G	5: 108,947,195 (GRCm39)	F519S	probably damaging	Het
Vwa8	T	C	14: 79,145,590 (GRCm39)	V89A	probably benign	Het
Wnt3	T	C	11: 103,703,207 (GRCm39)	I230T	possibly damaging	Het
Zan	A	T	5: 137,466,693 (GRCm39)	F388Y	probably damaging	Het
Zfp474	C	T	18: 52,771,421 (GRCm39)	L25F	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACAACTTCGTCTGTACCTCCAGGG -3'
(R):5'- TCCATTCTCAACGCCAAGGCTC -3'

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

Posted On

2013-07-11