Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02625:Foxj3'

301013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Foxj3

Ensembl Gene

ENSMUSG00000032998

Gene Name

forkhead box J3

Synonyms

C330039G02Rik, Fhd6

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.482) question?

Stock #

IGL02625

Quality Score

Status

Chromosome

Chromosomal Location

119396858-119486316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119482114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 523 (R523W)

Ref Sequence

ENSEMBL: ENSMUSP00000101917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044564] [ENSMUST00000106310]

AlphaFold

Q8BUR3

Predicted Effect

unknown
Transcript: ENSMUST00000044564
AA Change: R557W

SMART Domains

Protein: ENSMUSP00000035746
Gene: ENSMUSG00000032998
AA Change: R557W

Domain	Start	End	E-Value	Type
FH	76	164	6.03e-50	SMART
low complexity region	226	239	N/A	INTRINSIC
low complexity region	263	274	N/A	INTRINSIC
low complexity region	317	346	N/A	INTRINSIC
low complexity region	372	434	N/A	INTRINSIC
low complexity region	611	620	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000106310
AA Change: R523W

SMART Domains

Protein: ENSMUSP00000101917
Gene: ENSMUSG00000032998
AA Change: R523W

Domain	Start	End	E-Value	Type
FH	76	164	6.03e-50	SMART
low complexity region	192	205	N/A	INTRINSIC
low complexity region	229	240	N/A	INTRINSIC
low complexity region	283	312	N/A	INTRINSIC
low complexity region	338	400	N/A	INTRINSIC
low complexity region	577	586	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133097

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice have an abnormal skeletal muscle fiber type ratio in males as well as defects in muscle regeneration following injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg6	T	A	4: 99,634,584 (GRCm39)	C109S	probably damaging	Het
Arhgdia	C	A	11: 120,471,039 (GRCm39)	E53D	probably benign	Het
Ccr4	A	C	9: 114,321,401 (GRCm39)	C221W	probably damaging	Het
Ces2a	G	A	8: 105,466,910 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,796,709 (GRCm39)	E552*	probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dock2	A	G	11: 34,451,168 (GRCm39)		probably null	Het
Esr1	A	T	10: 4,951,346 (GRCm39)	T575S	probably benign	Het
Fancc	A	G	13: 63,545,965 (GRCm39)	C93R	probably damaging	Het
Fryl	C	T	5: 73,227,220 (GRCm39)		probably benign	Het
Fsip2	A	C	2: 82,779,836 (GRCm39)	H194P	probably benign	Het
Gaa	G	A	11: 119,165,559 (GRCm39)	V350I	probably damaging	Het
Gpn3	T	A	5: 122,519,257 (GRCm39)	I152N	probably damaging	Het
H2-M10.3	T	A	17: 36,678,417 (GRCm39)	H136L	probably benign	Het
H4c16	C	T	6: 136,781,335 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,239,953 (GRCm39)	D507G	probably damaging	Het
Jcad	A	G	18: 4,674,422 (GRCm39)	E728G	probably benign	Het
Kat14	G	A	2: 144,244,365 (GRCm39)	R406H	possibly damaging	Het
Kcnma1	G	T	14: 23,413,900 (GRCm39)	D863E	probably damaging	Het
Lrp1	A	G	10: 127,410,355 (GRCm39)	Y1464H	probably damaging	Het
Map4	T	C	9: 109,893,485 (GRCm39)	S584P	probably damaging	Het
Nlrp4f	G	A	13: 65,347,085 (GRCm39)	L58F	probably damaging	Het
Nlrp6	A	G	7: 140,503,413 (GRCm39)	I506M	probably benign	Het
Nudt17	G	A	3: 96,613,780 (GRCm39)	R266W	probably damaging	Het
Or4a47	A	G	2: 89,665,740 (GRCm39)	L183P	probably damaging	Het
Or4a69	A	G	2: 89,313,018 (GRCm39)	S154P	probably damaging	Het
Or52h9	A	G	7: 104,202,780 (GRCm39)	Y218C	probably damaging	Het
Plcb4	A	G	2: 135,803,714 (GRCm39)	E529G	probably benign	Het
Prss32	A	T	17: 24,075,210 (GRCm39)	I187F	possibly damaging	Het
Prss55	A	T	14: 64,316,818 (GRCm39)	I108K	probably damaging	Het
Rcl1	A	G	19: 29,095,741 (GRCm39)	M109V	probably benign	Het
Rho	A	T	6: 115,912,158 (GRCm39)	M207L	possibly damaging	Het
Slc12a1	A	G	2: 125,012,611 (GRCm39)	D291G	probably damaging	Het
Slco2b1	A	C	7: 99,309,330 (GRCm39)		probably null	Het
Stx11	T	A	10: 12,817,661 (GRCm39)	D21V	possibly damaging	Het
Svep1	T	A	4: 58,115,807 (GRCm39)	Y962F	possibly damaging	Het
Tbx5	G	T	5: 119,974,972 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,830,039 (GRCm39)	G141W	probably damaging	Het
Tmtc2	A	G	10: 105,206,407 (GRCm39)	M296T	probably damaging	Het
Trim13	T	A	14: 61,842,999 (GRCm39)	S339T	probably benign	Het
Ugt1a7c	A	G	1: 88,023,239 (GRCm39)	K133E	possibly damaging	Het
Usp40	A	G	1: 87,877,739 (GRCm39)	V1050A	probably benign	Het
Vmn2r86	T	G	10: 130,288,781 (GRCm39)	N240T	probably damaging	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr6	T	C	9: 108,452,704 (GRCm39)	Y393C	probably damaging	Het
Zfp619	A	T	7: 39,183,609 (GRCm39)		probably benign	Het

Other mutations in Foxj3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Foxj3	APN	4	119,467,226 (GRCm39)	missense	probably benign	0.03
IGL01452:Foxj3	APN	4	119,478,825 (GRCm39)	missense	unknown
IGL02056:Foxj3	APN	4	119,442,954 (GRCm39)	missense	probably damaging	1.00
IGL02455:Foxj3	APN	4	119,477,434 (GRCm39)	missense	unknown
IGL02542:Foxj3	APN	4	119,477,540 (GRCm39)	missense	unknown
IGL03216:Foxj3	APN	4	119,467,180 (GRCm39)	intron	probably benign
R0087:Foxj3	UTSW	4	119,483,597 (GRCm39)	missense	unknown
R0488:Foxj3	UTSW	4	119,477,187 (GRCm39)	nonsense	probably null
R0512:Foxj3	UTSW	4	119,443,033 (GRCm39)	splice site	probably benign
R1531:Foxj3	UTSW	4	119,477,398 (GRCm39)	missense	unknown
R1799:Foxj3	UTSW	4	119,476,548 (GRCm39)	missense	probably benign	0.06
R1883:Foxj3	UTSW	4	119,467,226 (GRCm39)	missense	probably benign	0.20
R3690:Foxj3	UTSW	4	119,473,839 (GRCm39)	splice site	probably benign
R3691:Foxj3	UTSW	4	119,473,839 (GRCm39)	splice site	probably benign
R3838:Foxj3	UTSW	4	119,473,821 (GRCm39)	missense	possibly damaging	0.49
R4065:Foxj3	UTSW	4	119,467,206 (GRCm39)	missense	probably benign	0.09
R4295:Foxj3	UTSW	4	119,483,494 (GRCm39)	nonsense	probably null
R4576:Foxj3	UTSW	4	119,478,860 (GRCm39)	missense	unknown
R4750:Foxj3	UTSW	4	119,473,787 (GRCm39)	missense	probably damaging	0.99
R4782:Foxj3	UTSW	4	119,478,857 (GRCm39)	missense	unknown
R4799:Foxj3	UTSW	4	119,478,857 (GRCm39)	missense	unknown
R5305:Foxj3	UTSW	4	119,477,155 (GRCm39)	missense	possibly damaging	0.73
R5358:Foxj3	UTSW	4	119,476,596 (GRCm39)	missense	probably damaging	1.00
R5362:Foxj3	UTSW	4	119,477,340 (GRCm39)	missense	unknown
R5728:Foxj3	UTSW	4	119,430,959 (GRCm39)	missense	probably damaging	1.00
R5732:Foxj3	UTSW	4	119,443,008 (GRCm39)	missense	probably damaging	1.00
R6151:Foxj3	UTSW	4	119,480,468 (GRCm39)	missense	unknown
R6352:Foxj3	UTSW	4	119,442,975 (GRCm39)	missense	probably damaging	1.00
R6377:Foxj3	UTSW	4	119,430,945 (GRCm39)	splice site	probably null
R7034:Foxj3	UTSW	4	119,476,497 (GRCm39)	missense	probably damaging	0.97
R7672:Foxj3	UTSW	4	119,477,429 (GRCm39)	missense	unknown
R7912:Foxj3	UTSW	4	119,477,252 (GRCm39)	missense	possibly damaging	0.63
R8215:Foxj3	UTSW	4	119,478,808 (GRCm39)	missense	unknown
R9190:Foxj3	UTSW	4	119,477,538 (GRCm39)	nonsense	probably null
R9624:Foxj3	UTSW	4	119,483,589 (GRCm39)	missense	unknown
R9762:Foxj3	UTSW	4	119,483,540 (GRCm39)	missense	unknown

Posted On

2015-04-16