Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01072:Foxj3'

50855

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 #

IGL01072

Quality Score

Status

Chromosome

Chromosomal Location

119396858-119486316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119467226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 190 (M190V)

Ref Sequence

ENSEMBL: ENSMUSP00000035746 (fasta)

Gene Model

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

AlphaFold

Q8BUR3

Predicted Effect

probably benign
Transcript: ENSMUST00000044564
AA Change: M190V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035746
Gene: ENSMUSG00000032998
AA Change: M190V

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

probably benign
Transcript: ENSMUST00000106310

SMART Domains

Protein: ENSMUSP00000101917
Gene: ENSMUSG00000032998

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

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc65	A	T	15: 98,606,277 (GRCm39)	M1L	unknown	Het
Cyp3a44	T	C	5: 145,728,438 (GRCm39)	D262G	probably benign	Het
Dmbt1	C	T	7: 130,687,098 (GRCm39)		probably benign	Het
Dnmt3l	A	G	10: 77,888,605 (GRCm39)	N169S	probably benign	Het
Fbxw26	A	T	9: 109,552,905 (GRCm39)	F290I	probably damaging	Het
Gm7275	T	C	16: 47,894,519 (GRCm39)		noncoding transcript	Het
Ly75	T	A	2: 60,184,840 (GRCm39)	D438V	probably damaging	Het
Lzts3	T	C	2: 130,477,365 (GRCm39)	E475G	probably damaging	Het
Mon2	A	T	10: 122,846,444 (GRCm39)	Y1375*	probably null	Het
Ndufc2	T	A	7: 97,049,490 (GRCm39)	V32D	probably damaging	Het
Nf2	A	C	11: 4,739,713 (GRCm39)	L431R	probably null	Het
Niban2	T	C	2: 32,802,427 (GRCm39)		probably benign	Het
Ptpn9	C	T	9: 56,943,987 (GRCm39)	T287I	possibly damaging	Het
Rictor	A	G	15: 6,819,043 (GRCm39)	D1422G	probably damaging	Het
Rpp40	C	A	13: 36,086,017 (GRCm39)	G115C	probably damaging	Het
Rps6ka5	A	G	12: 100,540,157 (GRCm39)	V522A	probably benign	Het
Scgb1b24	A	T	7: 33,443,434 (GRCm39)	D31V	probably damaging	Het
Trrap	C	A	5: 144,721,065 (GRCm39)		probably benign	Het
Vmn1r214	T	C	13: 23,219,300 (GRCm39)	Y265H	possibly damaging	Het

Other mutations in Foxj3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02625:Foxj3	APN	4	119,482,114 (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

2013-06-21