Mutagenetix > Incidental Mutation

Incidental Mutation 'R6280:Fxr1'

507879

Institutional Source

Beutler Lab

Gene Symbol

Fxr1

Ensembl Gene

ENSMUSG00000027680

Gene Name

FMR1 autosomal homolog 1

Synonyms

1110050J02Rik, 9530073J07Rik, Fxr1p, Fxr1h

MMRRC Submission

044450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6280 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34074133-34124129 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 34100401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001620] [ENSMUST00000167354] [ENSMUST00000197694] [ENSMUST00000198051] [ENSMUST00000200086] [ENSMUST00000200392]

AlphaFold

Q61584

Predicted Effect

probably benign
Transcript: ENSMUST00000001620

SMART Domains

Protein: ENSMUSP00000001620
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	2	55	4.4e-7	PFAM
Pfam:Agenet	62	120	7.1e-10	PFAM
KH	217	284	3.57e-4	SMART
KH	286	356	1.22e-2	SMART
low complexity region	404	421	N/A	INTRINSIC
Pfam:FXR_C1	489	564	1.9e-41	PFAM
low complexity region	572	582	N/A	INTRINSIC
Pfam:FXR_C3	610	676	1.3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167354

SMART Domains

Protein: ENSMUSP00000130216
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	3.3e-14	PFAM
KH	217	284	3.57e-4	SMART
KH	286	356	1.22e-2	SMART
Pfam:FXR1P_C	361	380	4.2e-9	PFAM
Pfam:FXR1P_C	379	486	1.5e-41	PFAM
low complexity region	502	510	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196519

Predicted Effect

probably benign
Transcript: ENSMUST00000197694

SMART Domains

Protein: ENSMUSP00000142441
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	3.9e-14	PFAM
KH	217	284	3.57e-4	SMART
KH	286	356	1.22e-2	SMART
Pfam:FXR1P_C	361	380	5e-9	PFAM
Pfam:FXR1P_C	379	486	1.8e-41	PFAM
low complexity region	502	510	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000197853
AA Change: R120H

Predicted Effect

probably benign
Transcript: ENSMUST00000198051

SMART Domains

Protein: ENSMUSP00000142847
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	1.2e-11	PFAM
KH	217	284	2.2e-6	SMART
KH	286	356	7.5e-5	SMART
Pfam:FXR1P_C	361	515	1.6e-64	PFAM
low complexity region	531	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200086

SMART Domains

Protein: ENSMUSP00000143562
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
PDB:3O8V\|A	2	40	1e-17	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000200392

SMART Domains

Protein: ENSMUSP00000143392
Gene: ENSMUSG00000027680

Domain	Start	End	E-Value	Type
Pfam:Agenet	59	120	3.3e-14	PFAM
KH	217	284	3.57e-4	SMART
KH	286	356	1.22e-2	SMART
Pfam:FXR1P_C	361	380	4.2e-9	PFAM
Pfam:FXR1P_C	379	486	1.5e-41	PFAM
low complexity region	502	510	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200425

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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 an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality with impaired muscle development. Mice homozygous for a hypomorphic allele display a reduced life span with impaired muscle development, growth retardation, and reduced grip strength. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,311,619 (GRCm39)	D1930N	probably benign	Het
Adam8	A	G	7: 139,564,720 (GRCm39)	L667S	probably damaging	Het
Adcy4	A	T	14: 56,016,500 (GRCm39)	I317N	probably damaging	Het
Agpat3	A	G	10: 78,120,872 (GRCm39)	F102S	probably damaging	Het
Apbb2	A	T	5: 66,522,325 (GRCm39)	W443R	probably damaging	Het
BC049715	T	A	6: 136,817,229 (GRCm39)	Y156*	probably null	Het
Bpifc	C	T	10: 85,813,576 (GRCm39)	V323I	probably benign	Het
Camp	T	G	9: 109,676,577 (GRCm39)	I149L	probably benign	Het
Cfap20dc	T	G	14: 8,473,414 (GRCm38)		probably null	Het
Cibar2	A	G	8: 120,898,858 (GRCm39)	I94T	possibly damaging	Het
Cnih1	A	G	14: 47,025,634 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,948,323 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,724 (GRCm39)	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084 (GRCm39)	V442I	probably benign	Het
Fam83g	G	T	11: 61,594,008 (GRCm39)	S514I	probably benign	Het
Fbxo7	A	G	10: 85,864,969 (GRCm39)	N93D	probably benign	Het
Fgf20	G	T	8: 40,734,153 (GRCm39)	S76*	probably null	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Gon4l	T	A	3: 88,798,195 (GRCm39)	L800H	probably damaging	Het
Gpn3	T	A	5: 122,512,022 (GRCm39)	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072 (GRCm39)	M743V	probably damaging	Het
Hira	A	G	16: 18,729,457 (GRCm39)	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,660,621 (GRCm39)		probably null	Het
Hsf2	T	G	10: 57,387,591 (GRCm39)	S370A	probably benign	Het
Htt	T	A	5: 35,028,103 (GRCm39)	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,597,534 (GRCm39)	R27S	possibly damaging	Het
Il17rb	G	A	14: 29,724,928 (GRCm39)	A186V	probably benign	Het
Irak4	G	T	15: 94,449,691 (GRCm39)	E57*	probably null	Het
Kcnh2	T	A	5: 24,536,921 (GRCm39)	H221L	probably benign	Het
Kdm2b	T	C	5: 123,016,687 (GRCm39)	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,141,303 (GRCm39)	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,704,514 (GRCm39)	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,773,910 (GRCm39)	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,284,106 (GRCm39)	N52S	possibly damaging	Het
Lhfpl6	T	C	3: 53,167,935 (GRCm39)	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,539,243 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,846,848 (GRCm39)	I872T	probably benign	Het
Lrit3	T	C	3: 129,582,412 (GRCm39)	E525G	probably damaging	Het
Lrp1	T	C	10: 127,425,453 (GRCm39)	T726A	probably benign	Het
Mep1a	A	T	17: 43,813,283 (GRCm39)	N46K	probably damaging	Het
Muc16	C	A	9: 18,490,613 (GRCm39)		probably null	Het
N4bp1	A	C	8: 87,579,794 (GRCm39)	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,257,739 (GRCm39)	D26G	probably benign	Het
Neu4	G	A	1: 93,952,873 (GRCm39)	S414N	probably damaging	Het
Nudt9	A	G	5: 104,212,935 (GRCm39)	D336G	probably benign	Het
Obscn	C	A	11: 58,954,509 (GRCm39)	G3691V	possibly damaging	Het
Or4c52	A	C	2: 89,845,393 (GRCm39)	I40L	possibly damaging	Het
Or5t17	A	G	2: 86,832,364 (GRCm39)	N17S	probably damaging	Het
Pdgfd	T	A	9: 6,288,627 (GRCm39)	S94T	probably benign	Het
Picalm	A	G	7: 89,826,770 (GRCm39)	H290R	probably benign	Het
Pou2f3	A	T	9: 43,050,634 (GRCm39)	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,050,635 (GRCm39)	L242M	probably damaging	Het
Prkd3	C	T	17: 79,289,360 (GRCm39)	G187D	probably damaging	Het
Pwp1	A	G	10: 85,710,326 (GRCm39)	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,184,129 (GRCm39)	L1626P	probably damaging	Het
Resf1	T	C	6: 149,228,555 (GRCm39)	S534P	probably damaging	Het
Rin2	A	G	2: 145,702,939 (GRCm39)	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,995,832 (GRCm39)	T71A	probably benign	Het
Senp7	T	C	16: 55,982,738 (GRCm39)	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,167,703 (GRCm39)	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 24,006,377 (GRCm39)	S468G	probably benign	Het
Slc4a10	A	G	2: 62,112,310 (GRCm39)	N697S	probably benign	Het
Spint1	T	A	2: 119,075,759 (GRCm39)	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,434,905 (GRCm39)	M14K	probably benign	Het
Stard9	A	G	2: 120,531,608 (GRCm39)	K2622E	probably benign	Het
Tbc1d5	T	C	17: 51,089,338 (GRCm39)	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,559,190 (GRCm39)	C261S	probably benign	Het
Tmem150b	A	T	7: 4,727,373 (GRCm39)	I44N	probably benign	Het
Ttn	A	G	2: 76,608,502 (GRCm39)	L17807P	probably damaging	Het
Vcan	G	A	13: 89,873,492 (GRCm39)	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,441,291 (GRCm39)	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,212 (GRCm39)	S761G	probably benign	Het
Wdr11	A	T	7: 129,200,830 (GRCm39)	K34*	probably null	Het
Zfp120	A	T	2: 149,959,964 (GRCm39)	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253 (GRCm39)	P740A	probably benign	Het

Other mutations in Fxr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Fxr1	APN	3	34,101,776 (GRCm39)	splice site	probably benign
IGL01598:Fxr1	APN	3	34,118,381 (GRCm39)	missense	possibly damaging	0.61
Outer_limits	UTSW	3	34,093,692 (GRCm39)	missense	probably benign	0.30
pueblo	UTSW	3	34,118,381 (GRCm39)	missense	possibly damaging	0.61
R4877_Fxr1_968	UTSW	3	34,101,847 (GRCm39)	missense	probably damaging	0.99
R1294:Fxr1	UTSW	3	34,101,201 (GRCm39)	missense	probably benign	0.00
R2134:Fxr1	UTSW	3	34,112,196 (GRCm39)	missense	probably damaging	1.00
R2405:Fxr1	UTSW	3	34,116,003 (GRCm39)	missense	probably damaging	1.00
R3023:Fxr1	UTSW	3	34,118,373 (GRCm39)	missense	probably damaging	1.00
R3055:Fxr1	UTSW	3	34,103,333 (GRCm39)	missense	probably damaging	1.00
R3056:Fxr1	UTSW	3	34,103,333 (GRCm39)	missense	probably damaging	1.00
R4009:Fxr1	UTSW	3	34,119,171 (GRCm39)	missense	probably benign	0.31
R4010:Fxr1	UTSW	3	34,119,171 (GRCm39)	missense	probably benign	0.31
R4706:Fxr1	UTSW	3	34,118,278 (GRCm39)	missense	probably damaging	0.99
R4721:Fxr1	UTSW	3	34,118,381 (GRCm39)	missense	possibly damaging	0.61
R4877:Fxr1	UTSW	3	34,101,847 (GRCm39)	missense	probably damaging	0.99
R5583:Fxr1	UTSW	3	34,123,125 (GRCm39)	missense	probably benign	0.18
R6801:Fxr1	UTSW	3	34,108,452 (GRCm39)	missense	possibly damaging	0.65
R7203:Fxr1	UTSW	3	34,100,689 (GRCm39)	missense	possibly damaging	0.76
R7422:Fxr1	UTSW	3	34,103,369 (GRCm39)	missense	probably damaging	1.00
R7523:Fxr1	UTSW	3	34,093,692 (GRCm39)	missense	probably benign	0.30
R7785:Fxr1	UTSW	3	34,100,403 (GRCm39)	missense
R8195:Fxr1	UTSW	3	34,101,878 (GRCm39)	missense	probably damaging	1.00
R8250:Fxr1	UTSW	3	34,101,178 (GRCm39)	nonsense	probably null
R8809:Fxr1	UTSW	3	34,108,430 (GRCm39)	missense	possibly damaging	0.75
R8839:Fxr1	UTSW	3	34,100,831 (GRCm39)	intron	probably benign
R9385:Fxr1	UTSW	3	34,074,120 (GRCm39)	unclassified	probably benign
R9613:Fxr1	UTSW	3	34,100,352 (GRCm39)	missense	probably benign	0.01
X0067:Fxr1	UTSW	3	34,100,193 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

Posted On

2018-03-15