Mutagenetix > Incidental Mutation

Incidental Mutation 'R5056:Foxj2'

450628

Institutional Source

Beutler Lab

Gene Symbol

Foxj2

Ensembl Gene

ENSMUSG00000003154

Gene Name

forkhead box J2

Synonyms

Fhx

MMRRC Submission

042646-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R5056 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

122797143-122822325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122810833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 271 (H271R)

Ref Sequence

ENSEMBL: ENSMUSP00000137645 (fasta)

Gene Model

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

AlphaFold

Q9ES18

Predicted Effect

probably benign
Transcript: ENSMUST00000003238
AA Change: H271R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154
AA Change: H271R

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: ENSMUST00000177927
AA Change: H271R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154
AA Change: H271R

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

noncoding transcript
Transcript: ENSMUST00000196252

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

Meta Mutation Damage Score

0.1015

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	A	8: 117,698,421 (GRCm39)	K229*	probably null	Het
Adora2a	T	A	10: 75,161,992 (GRCm39)	S44T	probably damaging	Het
Agap3	T	C	5: 24,682,860 (GRCm39)	V459A	probably damaging	Het
Apc2	T	C	10: 80,137,148 (GRCm39)	V31A	probably benign	Het
Asic2	T	A	11: 80,862,429 (GRCm39)	K189N	possibly damaging	Het
Bbs10	C	T	10: 111,136,401 (GRCm39)	P505S	probably benign	Het
Brd10	A	T	19: 29,694,759 (GRCm39)	I1578K	probably benign	Het
Cdh20	G	T	1: 104,881,722 (GRCm39)	V396L	probably benign	Het
Cenpb	C	T	2: 131,020,091 (GRCm39)		probably benign	Het
Chil6	T	A	3: 106,301,659 (GRCm39)	Y147F	probably damaging	Het
Cluh	C	T	11: 74,552,772 (GRCm39)	R606C	probably damaging	Het
Cmtr1	A	G	17: 29,909,302 (GRCm39)	T404A	possibly damaging	Het
Cnot1	T	C	8: 96,467,636 (GRCm39)	N1499S	probably damaging	Het
Dmkn	T	C	7: 30,463,529 (GRCm39)	S61P	probably damaging	Het
Dmxl1	T	C	18: 50,003,990 (GRCm39)	C872R	probably benign	Het
Dnah3	A	G	7: 119,620,169 (GRCm39)	Y1587H	probably damaging	Het
Dsc2	A	T	18: 20,183,199 (GRCm39)	V73D	probably damaging	Het
F5	A	T	1: 164,019,601 (GRCm39)	Y692F	possibly damaging	Het
Fam184a	A	T	10: 53,550,670 (GRCm39)	L80I	probably damaging	Het
Grm7	A	G	6: 111,057,404 (GRCm39)	T335A	probably damaging	Het
Hspa9	A	G	18: 35,071,734 (GRCm39)	L622P	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnd3	T	A	3: 105,574,244 (GRCm39)		probably benign	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrch4	C	G	5: 137,635,113 (GRCm39)	N237K	probably damaging	Het
Lss	T	G	10: 76,388,760 (GRCm39)		probably null	Het
Map6	T	C	7: 98,985,859 (GRCm39)	F588L	probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Med13	A	T	11: 86,219,391 (GRCm39)	S352T	probably benign	Het
Mettl16	T	A	11: 74,707,766 (GRCm39)	V320E	probably benign	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nup188	T	A	2: 30,194,143 (GRCm39)	D149E	probably damaging	Het
Ogfrl1	A	G	1: 23,418,130 (GRCm39)	S83P	probably damaging	Het
Or52l1	T	A	7: 104,829,779 (GRCm39)	H262L	probably damaging	Het
Or5m13	T	A	2: 85,748,480 (GRCm39)	D70E	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,364 (GRCm39)	I184F	unknown	Het
Or9m1	T	C	2: 87,733,915 (GRCm39)	Y35C	probably damaging	Het
Pafah1b3	C	T	7: 24,994,764 (GRCm39)	R98Q	probably damaging	Het
Pde6b	A	T	5: 108,571,357 (GRCm39)	K437*	probably null	Het
Ppp1r12b	A	T	1: 134,762,130 (GRCm39)		probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel34	T	C	5: 93,786,784 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,782,679 (GRCm39)	Q104R	possibly damaging	Het
Rgs22	A	T	15: 36,050,391 (GRCm39)		probably null	Het
Rnf14	C	T	18: 38,441,441 (GRCm39)	P277L	probably damaging	Het
Robo4	T	C	9: 37,316,102 (GRCm39)	S258P	probably benign	Het
Sfrp1	T	A	8: 23,907,420 (GRCm39)	F207I	probably damaging	Het
Sgms1	A	G	19: 32,137,087 (GRCm39)	S160P	probably damaging	Het
Sil1	T	C	18: 35,402,755 (GRCm39)	K263R	probably benign	Het
St14	A	G	9: 31,008,847 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,955,905 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,995,835 (GRCm39)	S1013P	probably benign	Het
Tent5b	C	T	4: 133,207,749 (GRCm39)	R47W	possibly damaging	Het
Tmem67	T	C	4: 12,070,471 (GRCm39)	S352G	probably benign	Het
Trib2	C	A	12: 15,843,795 (GRCm39)	K282N	possibly damaging	Het
Trnau1ap	T	C	4: 132,054,482 (GRCm39)		probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Unc93b1	A	G	19: 3,992,762 (GRCm39)	N305D	possibly damaging	Het
Usp32	A	G	11: 84,917,621 (GRCm39)	V802A	probably benign	Het
Vmn2r48	T	A	7: 9,676,251 (GRCm39)	H410L	probably damaging	Het
Wfs1	T	C	5: 37,132,931 (GRCm39)	N116S	probably benign	Het
Wif1	A	T	10: 120,935,684 (GRCm39)	H333L	probably benign	Het
Zfp109	T	C	7: 23,928,162 (GRCm39)	T416A	possibly damaging	Het
Zfp808	T	A	13: 62,320,444 (GRCm39)	C558S	probably damaging	Het
Zpbp	T	C	11: 11,409,734 (GRCm39)	D116G	possibly damaging	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
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
R8075:Foxj2	UTSW	6	122,815,055 (GRCm39)	nonsense	probably null
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'- AGGCTTAGGTCACCGTTCTTAC -3'
(R):5'- GAAGAGAACATTACCACTTGACAG -3'

Sequencing Primer
(F):5'- TGTCTTTGCAGGGCCCAG -3'
(R):5'- GTATAAGAAACTTTCAGTCCCAGC -3'

Posted On

2016-12-27