Mutagenetix > Incidental Mutation

Incidental Mutation 'R8075:Foxj2'

628963

Institutional Source

Beutler Lab

Gene Symbol

Foxj2

Ensembl Gene

ENSMUSG00000003154

Gene Name

forkhead box J2

Synonyms

Fhx

MMRRC Submission

067509-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R8075 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122797143-122822325 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 122815055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 364 (Q364*)

Ref Sequence

ENSEMBL: ENSMUSP00000003238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003238] [ENSMUST00000177927] [ENSMUST00000203075]

AlphaFold

Q9ES18

Predicted Effect

probably null
Transcript: ENSMUST00000003238
AA Change: Q364*

SMART Domains

Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154
AA Change: Q364*

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
FH	64	153	1.77e-47	SMART
low complexity region	207	222	N/A	INTRINSIC
low complexity region	266	275	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	359	393	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000177927
AA Change: Q364*

SMART Domains

Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154
AA Change: Q364*

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
FH	64	153	1.77e-47	SMART
low complexity region	207	222	N/A	INTRINSIC
low complexity region	266	275	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	359	393	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203075

SMART Domains

Protein: ENSMUSP00000145438
Gene: ENSMUSG00000003154

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
FH	64	153	7.8e-50	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,790,148 (GRCm39)	H69Q	probably benign	Het
Aif1	T	A	17: 35,390,811 (GRCm39)	N87Y	unknown	Het
Caprin2	A	T	6: 148,770,590 (GRCm39)	V468E	probably benign	Het
Cep68	A	T	11: 20,189,335 (GRCm39)	V559D	probably benign	Het
Chrna4	A	C	2: 180,680,859 (GRCm39)	I3S	unknown	Het
Cog3	T	C	14: 75,968,142 (GRCm39)	Y407C	probably damaging	Het
Col15a1	A	G	4: 47,208,359 (GRCm39)	H3R	probably benign	Het
Ctxn1	A	G	8: 4,308,553 (GRCm39)	V26A	probably benign	Het
Cyp27b1	A	C	10: 126,887,382 (GRCm39)	T405P	probably damaging	Het
Cyp2c65	A	G	19: 39,060,682 (GRCm39)	I181V	probably benign	Het
Dusp6	T	A	10: 99,100,810 (GRCm39)	S269T	possibly damaging	Het
Efcab6	A	T	15: 83,851,824 (GRCm39)	D351E	probably damaging	Het
Fam181a	A	T	12: 103,282,296 (GRCm39)	H67L	possibly damaging	Het
Fbxl18	A	G	5: 142,871,861 (GRCm39)	L458P	probably damaging	Het
Flnb	T	C	14: 7,913,048 (GRCm38)	I1439T	probably benign	Het
Gm3138	A	T	14: 4,250,532 (GRCm38)	N55Y	probably damaging	Het
Hmcn2	A	G	2: 31,279,403 (GRCm39)	T1802A	possibly damaging	Het
Hoxc6	T	C	15: 102,919,325 (GRCm39)	I187T	probably damaging	Het
Ighg3	T	A	12: 113,321,097 (GRCm39)	I387F		Het
Insr	A	T	8: 3,205,862 (GRCm39)	M1309K	probably benign	Het
Itsn1	A	T	16: 91,686,097 (GRCm39)	N1290I	unknown	Het
Jag2	C	A	12: 112,878,894 (GRCm39)	R509L	probably benign	Het
Kctd11	T	A	11: 69,771,095 (GRCm39)		probably benign	Het
Med13	C	A	11: 86,163,296 (GRCm39)	V2126F	probably damaging	Het
Mknk2	G	A	10: 80,507,982 (GRCm39)		probably benign	Het
Oga	A	T	19: 45,749,621 (GRCm39)	N699K	probably damaging	Het
Or52l1	T	G	7: 104,830,343 (GRCm39)	H74P	probably damaging	Het
Or5m13b	A	G	2: 85,754,470 (GRCm39)	N286S	probably benign	Het
Pdzrn4	T	C	15: 92,575,605 (GRCm39)	V337A	probably damaging	Het
Pik3c3	A	G	18: 30,438,082 (GRCm39)	N491D	probably damaging	Het
Pla2g12b	T	A	10: 59,257,274 (GRCm39)	S96T	unknown	Het
Rab37	G	T	11: 114,982,759 (GRCm39)		probably null	Het
Rp9	G	A	9: 22,368,788 (GRCm39)	T57M	probably damaging	Het
Rrp12	A	G	19: 41,851,713 (GRCm39)	V1274A	probably damaging	Het
Serpinb11	G	A	1: 107,298,519 (GRCm39)	V57M	probably damaging	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc39a14	A	T	14: 70,546,247 (GRCm39)	I392N	possibly damaging	Het
Sowahb	G	A	5: 93,192,276 (GRCm39)	Q148*	probably null	Het
Spon1	T	C	7: 113,616,026 (GRCm39)		probably null	Het
Susd4	C	A	1: 182,592,748 (GRCm39)	T48K	possibly damaging	Het
Taf4b	T	C	18: 14,916,749 (GRCm39)	V33A	possibly damaging	Het
Tas2r139	T	A	6: 42,118,154 (GRCm39)	N95K	probably benign	Het
Tle3	T	C	9: 61,281,841 (GRCm39)	M57T	probably benign	Het
Usp13	T	A	3: 32,985,852 (GRCm39)	M815K	probably damaging	Het
Vps8	A	G	16: 21,340,644 (GRCm39)	D796G	probably damaging	Het
Wnk1	C	T	6: 119,909,675 (GRCm39)	G41S	probably damaging	Het
Zfp867	A	G	11: 59,355,066 (GRCm39)	S88P	probably benign	Het

Other mutations in Foxj2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Foxj2	APN	6	122,816,594 (GRCm39)	missense	probably damaging	1.00
IGL01100:Foxj2	APN	6	122,805,350 (GRCm39)	missense	probably damaging	1.00
IGL02169:Foxj2	APN	6	122,805,425 (GRCm39)	missense	probably damaging	0.98
IGL02220:Foxj2	APN	6	122,815,540 (GRCm39)	splice site	probably benign
IGL02423:Foxj2	APN	6	122,819,732 (GRCm39)	missense	possibly damaging	0.90
IGL03026:Foxj2	APN	6	122,815,139 (GRCm39)	missense	probably benign	0.38
IGL03198:Foxj2	APN	6	122,809,966 (GRCm39)	critical splice donor site	probably null
R0400:Foxj2	UTSW	6	122,810,767 (GRCm39)	missense	possibly damaging	0.69
R1572:Foxj2	UTSW	6	122,810,220 (GRCm39)	missense	probably benign	0.00
R2063:Foxj2	UTSW	6	122,817,200 (GRCm39)	missense	probably benign	0.01
R2568:Foxj2	UTSW	6	122,805,331 (GRCm39)	missense	probably damaging	1.00
R2877:Foxj2	UTSW	6	122,819,791 (GRCm39)	missense	probably damaging	0.96
R4745:Foxj2	UTSW	6	122,814,948 (GRCm39)	missense	probably damaging	1.00
R4763:Foxj2	UTSW	6	122,810,230 (GRCm39)	missense	probably benign	0.27
R4764:Foxj2	UTSW	6	122,810,230 (GRCm39)	missense	probably benign	0.27
R4765:Foxj2	UTSW	6	122,810,230 (GRCm39)	missense	probably benign	0.27
R4775:Foxj2	UTSW	6	122,810,230 (GRCm39)	missense	probably benign	0.27
R5056:Foxj2	UTSW	6	122,810,833 (GRCm39)	missense	probably benign	0.00
R5816:Foxj2	UTSW	6	122,810,695 (GRCm39)	missense	probably benign
R6254:Foxj2	UTSW	6	122,815,098 (GRCm39)	missense	probably damaging	0.98
R6265:Foxj2	UTSW	6	122,805,133 (GRCm39)	missense	probably damaging	0.99
R6540:Foxj2	UTSW	6	122,810,202 (GRCm39)	missense	probably benign
R6882:Foxj2	UTSW	6	122,805,464 (GRCm39)	critical splice donor site	probably null
R6981:Foxj2	UTSW	6	122,819,798 (GRCm39)	missense	probably benign	0.14
R6981:Foxj2	UTSW	6	122,805,403 (GRCm39)	missense	probably damaging	1.00
R7295:Foxj2	UTSW	6	122,817,190 (GRCm39)	missense	probably benign	0.14
R7475:Foxj2	UTSW	6	122,814,801 (GRCm39)	missense	probably benign	0.14
R8287:Foxj2	UTSW	6	122,805,226 (GRCm39)	missense	possibly damaging	0.48
R8320:Foxj2	UTSW	6	122,810,649 (GRCm39)	missense	probably benign	0.05
R8511:Foxj2	UTSW	6	122,808,404 (GRCm39)	nonsense	probably null
R9498:Foxj2	UTSW	6	122,819,792 (GRCm39)	missense	probably damaging	0.96
Z1176:Foxj2	UTSW	6	122,810,670 (GRCm39)	missense	probably benign
Z1176:Foxj2	UTSW	6	122,809,895 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGAGACATGCCACCTTCTAAC -3'
(R):5'- TGACCCTAGAAGACCGACTG -3'

Sequencing Primer
(F):5'- TACTACGTGTACCAGCAGCAG -3'
(R):5'- GAAGACCGACTGTTAACGTTTTC -3'

Posted On

2020-06-30