Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Foxj3'

404489

Institutional Source

Beutler Lab

Gene Symbol

Foxj3

Ensembl Gene

ENSMUSG00000032998

Gene Name

forkhead box J3

Synonyms

C330039G02Rik, Fhd6

MMRRC Submission

042888-MU

Accession Numbers

Essential gene?

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

Stock #

R5305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119396858-119486316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119477155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 288 (S288T)

Ref Sequence

ENSEMBL: ENSMUSP00000101917 (fasta)

Gene Model

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

AlphaFold

Q8BUR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044564
AA Change: S322T

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035746
Gene: ENSMUSG00000032998
AA Change: S322T

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

possibly damaging
Transcript: ENSMUST00000106310
AA Change: S288T

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101917
Gene: ENSMUSG00000032998
AA Change: S288T

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

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,943,420 (GRCm39)	V11M	possibly damaging	Het
Acot8	A	G	2: 164,637,685 (GRCm39)	V179A	probably benign	Het
Actb	A	G	5: 142,889,985 (GRCm39)	I194T	probably benign	Het
Ap1g2	A	G	14: 55,336,533 (GRCm39)	V787A	probably benign	Het
Areg	G	T	5: 91,292,308 (GRCm39)	A203S	probably damaging	Het
Asb13	A	T	13: 3,693,479 (GRCm39)	D79V	probably damaging	Het
Atad2b	C	T	12: 5,015,855 (GRCm39)	T527I	probably damaging	Het
Auts2	T	G	5: 131,472,632 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,885,501 (GRCm39)	S35T	probably damaging	Het
Crebzf	T	C	7: 90,093,342 (GRCm39)		probably benign	Het
Cttnbp2	G	T	6: 18,381,097 (GRCm39)	N1366K	probably benign	Het
Cubn	C	A	2: 13,393,750 (GRCm39)	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,626,627 (GRCm39)	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690 (GRCm39)		probably benign	Het
Eps8l1	A	G	7: 4,480,895 (GRCm39)	S613G	possibly damaging	Het
Erich6	T	G	3: 58,532,537 (GRCm39)	I357L	probably benign	Het
Gls2	T	G	10: 128,040,578 (GRCm39)	Y326*	probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7535	T	C	17: 18,132,061 (GRCm39)		probably benign	Het
Gxylt2	T	G	6: 100,764,179 (GRCm39)	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,225,140 (GRCm39)	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,888,162 (GRCm39)	R17H	probably damaging	Het
Mtf2	A	G	5: 108,252,365 (GRCm39)	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,583,757 (GRCm39)	L66R	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,447,483 (GRCm39)	Y176*	probably null	Het
Obscn	T	C	11: 58,903,541 (GRCm39)	T7628A	possibly damaging	Het
Or7a37	A	T	10: 78,806,390 (GRCm39)	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,009,489 (GRCm39)	V129G	probably damaging	Het
Polr2e	A	G	10: 79,873,897 (GRCm39)		probably benign	Het
Ppard	A	G	17: 28,517,832 (GRCm39)	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,743 (GRCm39)	V46A	probably benign	Het
Prex2	T	A	1: 11,177,902 (GRCm39)	V332E	probably damaging	Het
Prss30	T	G	17: 24,191,750 (GRCm39)	Y257S	probably benign	Het
Ptprd	T	C	4: 75,900,863 (GRCm39)	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,317,611 (GRCm39)	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,874,445 (GRCm39)	V389A	possibly damaging	Het
Rims1	T	A	1: 22,635,623 (GRCm39)	R119S	probably damaging	Het
Sema3b	T	C	9: 107,480,536 (GRCm39)	H137R	probably null	Het
Sf3b4	G	C	3: 96,080,958 (GRCm39)	A89P	probably damaging	Het
Sgta	T	A	10: 80,882,081 (GRCm39)	Q298L	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982 (GRCm39)	D226V	unknown	Het
Sv2a	A	G	3: 96,092,774 (GRCm39)	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,031,071 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,125,283 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,653,365 (GRCm39)	N56K	possibly damaging	Het
Tyk2	T	C	9: 21,020,677 (GRCm39)	D918G	probably damaging	Het
Uqcrh	A	G	4: 115,924,481 (GRCm39)		probably benign	Het
Vmn1r61	A	G	7: 5,613,814 (GRCm39)	S167P	probably damaging	Het
Wdr25	C	A	12: 108,992,366 (GRCm39)	H74N	probably damaging	Het
Zfp458	T	C	13: 67,404,382 (GRCm39)	N686D	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp976	A	T	7: 42,262,902 (GRCm39)	Y312N	probably benign	Het
Zscan4c	G	A	7: 10,743,462 (GRCm39)	V354I	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCACTGGAGTTTATTAGCACCAAG -3'
(R):5'- GGGTGCTGGGGTAAACCATG -3'

Sequencing Primer
(F):5'- AGTTTATTAGCACCAAGTTTGTGG -3'
(R):5'- ACCATGCGGTCTATGGGG -3'

Posted On

2016-07-22