Mutagenetix > Incidental Mutation

Incidental Mutation 'R5352:Foxj1'

423855

Institutional Source

Beutler Lab

Gene Symbol

Foxj1

Ensembl Gene

ENSMUSG00000034227

Gene Name

forkhead box J1

Synonyms

FKHL-13, HFH-4, Hfh4

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5352 (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 116224905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 154 (N154S)

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: N154S

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038351
Gene: ENSMUSG00000034227
AA Change: N154S

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

0.4381

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (66/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	G	16: 14,436,565 (GRCm39)	L206*	probably null	Het
Adgrv1	T	C	13: 81,642,776 (GRCm39)	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,621,560 (GRCm39)	T41M	probably damaging	Het
Akap6	A	T	12: 52,842,880 (GRCm39)	E76V	probably damaging	Het
Ank2	C	A	3: 127,292,640 (GRCm39)		probably benign	Het
Atp6ap1l	A	C	13: 91,031,875 (GRCm39)	L269R	probably damaging	Het
Blk	A	G	14: 63,613,420 (GRCm39)	S363P	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Btnl9	T	C	11: 49,069,667 (GRCm39)	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,863,555 (GRCm39)	W672C	probably damaging	Het
Ccnf	A	G	17: 24,462,247 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chst1	A	G	2: 92,443,710 (GRCm39)	T61A	possibly damaging	Het
Col6a4	G	A	9: 105,938,743 (GRCm39)	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,790,479 (GRCm39)	T976P	unknown	Het
Corin	C	T	5: 72,462,376 (GRCm39)	S811N	probably benign	Het
Dnal1	T	C	12: 84,183,322 (GRCm39)	V27A	possibly damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,314,821 (GRCm39)	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,317 (GRCm39)	S1405G	possibly damaging	Het
Gm12183	T	C	11: 48,642,989 (GRCm39)		noncoding transcript	Het
Gm27047	G	A	6: 130,607,982 (GRCm39)		noncoding transcript	Het
Grm5	A	G	7: 87,724,058 (GRCm39)	I783V	probably damaging	Het
Hk1	A	T	10: 62,140,549 (GRCm39)	S113T	probably damaging	Het
Iqca1	A	T	1: 90,057,918 (GRCm39)	N260K	probably benign	Het
Iws1	A	T	18: 32,216,457 (GRCm39)	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,375,654 (GRCm39)	I68T	probably damaging	Het
Man2a1	T	C	17: 65,038,241 (GRCm39)	I75T	probably damaging	Het
Med13	T	A	11: 86,192,294 (GRCm39)	I824L	possibly damaging	Het
Meioc	A	T	11: 102,566,139 (GRCm39)	E585V	probably benign	Het
Mrgpre	A	C	7: 143,334,831 (GRCm39)	F224C	probably damaging	Het
Muc5b	T	A	7: 141,418,295 (GRCm39)	F3747Y	possibly damaging	Het
Nherf2	C	T	17: 24,861,229 (GRCm39)	R66H	probably damaging	Het
Nlrp4e	T	C	7: 23,052,598 (GRCm39)	V839A	probably benign	Het
Nup210	A	T	6: 91,046,298 (GRCm39)	V545E	probably damaging	Het
Ola1	T	C	2: 72,929,674 (GRCm39)	T310A	probably damaging	Het
Pdxdc1	T	C	16: 13,658,175 (GRCm39)	N516S	probably benign	Het
Phlpp1	A	G	1: 106,100,455 (GRCm39)	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,474,857 (GRCm39)	V85A	probably damaging	Het
Rasa3	A	C	8: 13,681,778 (GRCm39)	L57R	possibly damaging	Het
Rp1	T	C	1: 4,417,321 (GRCm39)	S1264G	probably benign	Het
Rprd1b	A	G	2: 157,900,656 (GRCm39)	E247G	probably damaging	Het
Sag	G	T	1: 87,740,715 (GRCm39)	V46L	probably benign	Het
Sat2	A	T	11: 69,513,141 (GRCm39)	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,734,093 (GRCm39)	Y199N	probably benign	Het
Snx2	A	G	18: 53,330,997 (GRCm39)		probably null	Het
Thbs4	T	C	13: 92,900,098 (GRCm39)	D466G	probably damaging	Het
Tmem208	A	G	8: 106,055,063 (GRCm39)	D91G	probably damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Tor3a	T	G	1: 156,501,763 (GRCm39)	E38A	probably damaging	Het
Trim31	T	A	17: 37,210,810 (GRCm39)	D147E	possibly damaging	Het
Vmn1r48	G	T	6: 90,013,129 (GRCm39)	A232E	probably benign	Het
Vmn1r89	T	G	7: 12,953,284 (GRCm39)	F7V	probably benign	Het
Zfp160	A	G	17: 21,247,114 (GRCm39)	T555A	probably benign	Het
Zfp981	C	A	4: 146,621,462 (GRCm39)	T129K	probably benign	Het
Zfpm2	T	A	15: 40,733,938 (GRCm39)	F106I	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
R0615:Foxj1	UTSW	11	116,224,908 (GRCm39)	missense	possibly damaging	0.56
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'- AACTTCGTCTGTACCTCCAGG -3'
(R):5'- ATCGTCGTGCACATCTCGAAG -3'

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

Posted On

2016-08-04