Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02835:Fjx1'

391956

Institutional Source

Beutler Lab

Gene Symbol

Fjx1

Ensembl Gene

ENSMUSG00000075012

Gene Name

four jointed box 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02835 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

102279711-102282137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102281092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 281 (A281V)

Ref Sequence

ENSEMBL: ENSMUSP00000097270 (fasta)

Gene Model

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

AlphaFold

Q8BQB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099678
AA Change: A281V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097270
Gene: ENSMUSG00000075012
AA Change: A281V

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

0.1112

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,937,284 (GRCm39)	K208*	probably null	Het
A530016L24Rik	A	C	12: 112,461,420 (GRCm39)		probably null	Het
A830018L16Rik	A	C	1: 12,042,279 (GRCm39)	D433A	possibly damaging	Het
Abca13	T	A	11: 9,401,515 (GRCm39)	I3985N	probably damaging	Het
Abhd17c	C	T	7: 83,800,731 (GRCm39)	D108N	probably benign	Het
Adam29	C	T	8: 56,326,173 (GRCm39)	D94N	probably damaging	Het
Agr2	A	G	12: 36,045,903 (GRCm39)	D50G	probably benign	Het
Angptl1	A	G	1: 156,686,090 (GRCm39)	D392G	probably benign	Het
Apob	A	G	12: 8,065,097 (GRCm39)	N3989S	possibly damaging	Het
AU018091	T	C	7: 3,218,897 (GRCm39)	D12G	unknown	Het
Cyfip2	A	T	11: 46,140,598 (GRCm39)	S742T	probably benign	Het
Dlc1	C	T	8: 37,051,055 (GRCm39)	S892N	probably damaging	Het
Dsg1b	A	G	18: 20,525,071 (GRCm39)	N169S	possibly damaging	Het
Egfem1	T	C	3: 29,711,390 (GRCm39)	L323P	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Fmn2	T	A	1: 174,409,625 (GRCm39)	D619E	unknown	Het
Gm4795	A	C	10: 44,882,254 (GRCm39)		noncoding transcript	Het
Gm5117	T	C	8: 32,227,198 (GRCm39)		noncoding transcript	Het
Gm5250	T	C	1: 13,132,418 (GRCm39)		noncoding transcript	Het
Gtdc1	A	T	2: 44,646,324 (GRCm39)	Y101*	probably null	Het
Herc6	T	C	6: 57,623,146 (GRCm39)	I583T	possibly damaging	Het
Hyal4	G	A	6: 24,765,714 (GRCm39)	R356H	probably benign	Het
Il22ra2	C	A	10: 19,502,424 (GRCm39)	T81K	probably benign	Het
Iqcm	T	A	8: 76,281,511 (GRCm39)		probably benign	Het
Izumo4	G	A	10: 80,540,959 (GRCm39)	V220I	probably benign	Het
Kif16b	A	T	2: 142,554,133 (GRCm39)	D899E	probably benign	Het
Lrp2	A	T	2: 69,335,648 (GRCm39)	N1358K	probably damaging	Het
Lrrk2	A	G	15: 91,698,863 (GRCm39)		probably null	Het
Lyst	C	T	13: 13,835,685 (GRCm39)	T1789M	possibly damaging	Het
Map4k4	A	G	1: 40,049,760 (GRCm39)	T732A	probably damaging	Het
Mdh1b	A	T	1: 63,757,816 (GRCm39)	I305N	probably damaging	Het
Mettl13	A	G	1: 162,373,585 (GRCm39)	I222T	probably damaging	Het
Mtcl2	G	A	2: 156,883,854 (GRCm39)	T363I	possibly damaging	Het
Muc4	T	C	16: 32,584,319 (GRCm39)	F2583L	probably benign	Het
Nbea	C	T	3: 55,625,290 (GRCm39)	R2267Q	possibly damaging	Het
Ndfip1	T	C	18: 38,589,144 (GRCm39)	Y178H	probably damaging	Het
Nin	A	T	12: 70,103,512 (GRCm39)	F243I	probably damaging	Het
Nlrp10	A	T	7: 108,523,869 (GRCm39)	I537K	possibly damaging	Het
Nup155	T	C	15: 8,172,614 (GRCm39)	Y867H	probably damaging	Het
Pakap	C	G	4: 57,883,044 (GRCm39)	P837A	probably damaging	Het
Pik3r4	A	C	9: 105,549,905 (GRCm39)	I999L	probably benign	Het
Pitpnm3	G	A	11: 71,952,292 (GRCm39)		probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Polg2	A	T	11: 106,666,266 (GRCm39)	V293E	probably benign	Het
Pramel22	T	A	4: 143,380,817 (GRCm39)	Y402F	probably damaging	Het
Prok1	T	C	3: 107,144,531 (GRCm39)		probably null	Het
Ptcd1	T	C	5: 145,091,500 (GRCm39)	D533G	possibly damaging	Het
Ptpn13	T	C	5: 103,707,891 (GRCm39)	V1484A	probably damaging	Het
Rapgef2	A	T	3: 79,000,293 (GRCm39)		probably benign	Het
Serpinb8	T	G	1: 107,530,586 (GRCm39)	F121L	probably damaging	Het
Sh3rf1	T	A	8: 61,679,081 (GRCm39)	V41E	probably damaging	Het
Snx13	A	G	12: 35,182,126 (GRCm39)	N725S	possibly damaging	Het
Stab1	A	T	14: 30,867,981 (GRCm39)		probably null	Het
Themis	A	T	10: 28,637,616 (GRCm39)		probably benign	Het
Trim68	T	A	7: 102,327,780 (GRCm39)	Y391F	probably benign	Het
Trmt1	T	G	8: 85,423,589 (GRCm39)	V327G	probably null	Het
Vill	C	T	9: 118,896,513 (GRCm39)	T120M	probably benign	Het

Other mutations in Fjx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8036:Fjx1	UTSW	2	102,280,720 (GRCm39)	missense	probably damaging	1.00
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'- TCATTGTCCAGAAAGACCAACG -3'
(R):5'- TGTACGCTACGGCATCAAC -3'

Sequencing Primer
(F):5'- CAACGCCCCTCCTGGTC -3'
(R):5'- CCCAGAGCAGATACAGGGC -3'

Posted On

2016-06-08