Mutagenetix > Incidental Mutation

Incidental Mutation 'R8036:Fjx1'

618221

Institutional Source

Beutler Lab

Gene Symbol

Fjx1

Ensembl Gene

ENSMUSG00000075012

Gene Name

four jointed box 1

Synonyms

MMRRC Submission

067473-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8036 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102279711-102282137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102280720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 405 (L405P)

Ref Sequence

ENSEMBL: ENSMUSP00000097270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099678]

AlphaFold

Q8BQB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000099678
AA Change: L405P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097270
Gene: ENSMUSG00000075012
AA Change: L405P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	56	67	N/A	INTRINSIC

Meta Mutation Damage Score

0.8089

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased dendritic length and reduced dendritic complexity of hippocampal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,236,818 (GRCm39)	V1473A	possibly damaging	Het
Akap9	T	A	5: 4,120,397 (GRCm39)	C3604*	probably null	Het
Alas1	A	G	9: 106,112,721 (GRCm39)	I545T	probably benign	Het
Anpep	A	C	7: 79,491,646 (GRCm39)	D118E	probably benign	Het
Arhgef17	A	T	7: 100,579,062 (GRCm39)	S629T	probably damaging	Het
Arid2	C	T	15: 96,266,625 (GRCm39)	R558C	probably damaging	Het
Camk2n1	A	G	4: 138,184,056 (GRCm39)	D65G	probably damaging	Het
Ccdc177	T	C	12: 80,804,897 (GRCm39)	N459S	unknown	Het
Cenpe	ACTCTCT	ACTCT	3: 134,945,609 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,165,122 (GRCm39)	I1062V	probably benign	Het
Decr2	A	G	17: 26,301,962 (GRCm39)	L256P	probably damaging	Het
Dhx37	T	C	5: 125,501,739 (GRCm39)	M507V	probably benign	Het
Disp1	A	G	1: 182,870,803 (GRCm39)	I539T	probably damaging	Het
Dqx1	T	A	6: 83,036,788 (GRCm39)	V264E	probably damaging	Het
Enpp4	A	G	17: 44,413,136 (GRCm39)	S133P	possibly damaging	Het
Fam149a	T	C	8: 45,802,048 (GRCm39)	T476A	probably benign	Het
Fam20b	A	G	1: 156,533,407 (GRCm39)	W70R	probably damaging	Het
Fbxl13	T	A	5: 21,728,566 (GRCm39)	N508Y	probably damaging	Het
Fn1	G	A	1: 71,629,310 (GRCm39)	Q2399*	probably null	Het
Foxa2	G	C	2: 147,885,909 (GRCm39)	T308S	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm10521	A	G	1: 171,723,752 (GRCm39)	D21G	unknown	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Herpud1	A	G	8: 95,119,014 (GRCm39)	E256G	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kctd13	A	G	7: 126,528,414 (GRCm39)	D63G	possibly damaging	Het
Lamp3	C	A	16: 19,519,809 (GRCm39)	D125Y	probably damaging	Het
Luzp2	A	G	7: 54,724,823 (GRCm39)	D128G	probably damaging	Het
Lyve1	A	G	7: 110,458,649 (GRCm39)	C105R	probably damaging	Het
Mlkl	A	T	8: 112,060,086 (GRCm39)	V100E	probably damaging	Het
Muc5b	T	C	7: 141,421,478 (GRCm39)	S4323P	possibly damaging	Het
Myoz3	T	G	18: 60,713,922 (GRCm39)		probably null	Het
Nlrp9c	T	A	7: 26,070,864 (GRCm39)	N906Y	possibly damaging	Het
Odad1	A	G	7: 45,592,276 (GRCm39)	D352G	probably benign	Het
Or10x4	A	G	1: 174,219,382 (GRCm39)	H249R	probably damaging	Het
Or51f23	A	T	7: 102,452,763 (GRCm39)	H26L	possibly damaging	Het
Or8b49	T	C	9: 38,506,186 (GRCm39)	F223S	probably benign	Het
Or8w1	C	T	2: 87,465,847 (GRCm39)	M81I	probably benign	Het
Pcsk9	G	A	4: 106,311,536 (GRCm39)	H232Y	possibly damaging	Het
Plec	A	G	15: 76,063,380 (GRCm39)	I2230T	possibly damaging	Het
Pou2f3	T	A	9: 43,058,205 (GRCm39)	T47S	probably damaging	Het
Rab8a	A	T	8: 72,928,439 (GRCm39)	I106F	probably damaging	Het
Relch	A	T	1: 105,605,902 (GRCm39)	I181F	probably damaging	Het
Ros1	A	T	10: 52,041,439 (GRCm39)	S295T	probably benign	Het
Sh3yl1	T	A	12: 30,992,098 (GRCm39)	N222K	possibly damaging	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spata20	T	G	11: 94,369,963 (GRCm39)	I778L	probably benign	Het
Taar1	A	T	10: 23,797,033 (GRCm39)	T244S	probably benign	Het
Tmem229b	C	A	12: 79,011,862 (GRCm39)	C23F	probably damaging	Het
Ttll4	A	G	1: 74,718,389 (GRCm39)	Y80C	probably benign	Het
Ube2m	G	A	7: 12,769,566 (GRCm39)	T176I	probably benign	Het
Zfp790	G	A	7: 29,528,346 (GRCm39)	A344T	possibly damaging	Het
Zfp90	G	A	8: 107,145,760 (GRCm39)	V31M	probably benign	Het
Zswim4	C	T	8: 84,949,918 (GRCm39)	R659Q	probably benign	Het

Other mutations in Fjx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02835:Fjx1	UTSW	2	102,281,092 (GRCm39)	missense	possibly damaging	0.93
R0384:Fjx1	UTSW	2	102,281,452 (GRCm39)	missense	probably damaging	1.00
R1624:Fjx1	UTSW	2	102,281,509 (GRCm39)	missense	probably benign	0.04
R1959:Fjx1	UTSW	2	102,281,152 (GRCm39)	missense	probably benign	0.12
R4059:Fjx1	UTSW	2	102,281,066 (GRCm39)	missense	possibly damaging	0.53
R5432:Fjx1	UTSW	2	102,280,864 (GRCm39)	missense	possibly damaging	0.94
R6186:Fjx1	UTSW	2	102,281,152 (GRCm39)	missense	probably benign	0.12
R6941:Fjx1	UTSW	2	102,280,903 (GRCm39)	missense	probably benign	0.40
R7092:Fjx1	UTSW	2	102,281,101 (GRCm39)	missense	possibly damaging	0.94
R8443:Fjx1	UTSW	2	102,281,156 (GRCm39)	missense	possibly damaging	0.52
Z1177:Fjx1	UTSW	2	102,281,342 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TTGGCGATCAGACCATTGGG -3'
(R):5'- TTTCTGGACAATGAGGCGG -3'

Sequencing Primer
(F):5'- CTGGTTGGTCGTTGCCC -3'
(R):5'- ACAATGAGGCGGGCTTG -3'

Posted On

2020-01-23