Mutagenetix > Incidental Mutation

Incidental Mutation 'R8809:Fxr1'

672254

Institutional Source

Beutler Lab

Gene Symbol

Fxr1

Ensembl Gene

ENSMUSG00000027680

Gene Name

FMR1 autosomal homolog 1

Synonyms

1110050J02Rik, 9530073J07Rik, Fxr1p, Fxr1h

MMRRC Submission

068645-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34074133-34124129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34108430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 314 (V314I)

Ref Sequence

ENSEMBL: ENSMUSP00000143392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001620] [ENSMUST00000011029] [ENSMUST00000167354] [ENSMUST00000197694] [ENSMUST00000198051] [ENSMUST00000200086] [ENSMUST00000200392]

AlphaFold

Q61584

Predicted Effect

probably damaging
Transcript: ENSMUST00000001620
AA Change: V314I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001620
Gene: ENSMUSG00000027680
AA Change: V314I

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: ENSMUST00000011029

SMART Domains

Protein: ENSMUSP00000011029
Gene: ENSMUSG00000027679

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
DnaJ	61	101	1.31e-1	SMART
low complexity region	106	124	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167354
AA Change: V229I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130216
Gene: ENSMUSG00000027680
AA Change: V229I

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

probably damaging
Transcript: ENSMUST00000197694
AA Change: V314I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142441
Gene: ENSMUSG00000027680
AA Change: V314I

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

probably damaging
Transcript: ENSMUST00000198051
AA Change: V314I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142847
Gene: ENSMUSG00000027680
AA Change: V314I

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

possibly damaging
Transcript: ENSMUST00000200392
AA Change: V314I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143392
Gene: ENSMUSG00000027680
AA Change: V314I

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

Meta Mutation Damage Score

0.1524

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	C	T	10: 89,550,841 (GRCm39)	V318I	probably benign	Het
Adam29	A	G	8: 56,325,659 (GRCm39)	I265T	probably benign	Het
Ankdd1a	A	T	9: 65,415,422 (GRCm39)		probably benign	Het
Arcn1	T	C	9: 44,655,259 (GRCm39)	T501A	possibly damaging	Het
B3gntl1	A	T	11: 121,521,690 (GRCm39)	F166I	possibly damaging	Het
Brap	T	C	5: 121,822,524 (GRCm39)	S467P	possibly damaging	Het
Cenpb	A	G	2: 131,020,322 (GRCm39)	V492A	unknown	Het
Ces1b	C	A	8: 93,786,948 (GRCm39)	G477V	probably damaging	Het
Ces1b	C	T	8: 93,786,949 (GRCm39)	G477R	probably damaging	Het
Cfap65	T	C	1: 74,942,382 (GRCm39)	K1724R	probably benign	Het
Chrd	A	T	16: 20,553,270 (GRCm39)	Q182L	probably benign	Het
Chrnb2	T	C	3: 89,664,457 (GRCm39)	T486A	probably benign	Het
Col25a1	A	T	3: 130,354,466 (GRCm39)		probably null	Het
Col4a1	A	G	8: 11,295,916 (GRCm39)	Y101H	unknown	Het
Crybg1	T	C	10: 43,879,428 (GRCm39)	T587A	probably damaging	Het
Ctnnal1	T	A	4: 56,835,374 (GRCm39)	N301I	possibly damaging	Het
Cyp2f2	A	T	7: 26,831,995 (GRCm39)	N417Y	probably damaging	Het
Dnah6	T	A	6: 73,009,546 (GRCm39)	E3800D	possibly damaging	Het
Dync2i1	A	G	12: 116,193,234 (GRCm39)	S573P	probably damaging	Het
Ehmt2	C	A	17: 35,127,489 (GRCm39)	T906K	probably damaging	Het
Fbxo15	A	G	18: 84,978,200 (GRCm39)	H183R	possibly damaging	Het
Fgl1	T	A	8: 41,650,368 (GRCm39)	K194*	probably null	Het
Hrnr	A	G	3: 93,239,443 (GRCm39)	Q3227R	unknown	Het
Ier5	G	A	1: 154,974,716 (GRCm39)	A154V	probably benign	Het
Igkc	T	G	6: 70,703,502 (GRCm39)	L28V		Het
Kcnh1	G	A	1: 191,903,722 (GRCm39)	G54D	probably damaging	Het
Kcnn1	C	T	8: 71,305,297 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,395,491 (GRCm39)	D384N	possibly damaging	Het
Klra2	T	A	6: 131,197,198 (GRCm39)	N234I	possibly damaging	Het
Krtap4-9	T	C	11: 99,676,454 (GRCm39)	I125T	unknown	Het
Lrig2	T	C	3: 104,368,993 (GRCm39)	T897A	probably benign	Het
Lyve1	G	T	7: 110,452,999 (GRCm39)	T199K	probably damaging	Het
Myorg	T	C	4: 41,498,812 (GRCm39)	T273A	probably benign	Het
Napa	A	G	7: 15,846,551 (GRCm39)	D113G	possibly damaging	Het
Neurog1	GGTG	GGTGTG	13: 56,399,098 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,437,964 (GRCm39)	H91Q	probably damaging	Het
Or4c11c	T	C	2: 88,662,256 (GRCm39)	M265T	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or52e3	A	T	7: 102,869,446 (GRCm39)	N174Y	probably benign	Het
Or5k16	T	A	16: 58,736,248 (GRCm39)	Y252F	probably damaging	Het
Or7g16	A	G	9: 18,726,919 (GRCm39)	S224P	probably damaging	Het
Pccb	A	T	9: 100,867,220 (GRCm39)	Y455*	probably null	Het
Pdk2	A	T	11: 94,923,339 (GRCm39)	I95N	probably damaging	Het
Pik3c2g	G	A	6: 139,714,436 (GRCm39)	R196H		Het
Pkd1l2	A	G	8: 117,726,660 (GRCm39)	L2282P	probably damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prdm1	A	T	10: 44,315,749 (GRCm39)	S796T	probably benign	Het
Rb1	A	G	14: 73,503,000 (GRCm39)	F424L	probably damaging	Het
Retreg3	A	G	11: 100,992,852 (GRCm39)	L190P	probably damaging	Het
Rffl	A	G	11: 82,700,864 (GRCm39)	Y321H	probably damaging	Het
Rlbp1	A	G	7: 79,025,704 (GRCm39)	Y246H	probably damaging	Het
Rock2	T	A	12: 17,015,655 (GRCm39)		probably benign	Het
Slc17a3	C	A	13: 24,039,575 (GRCm39)	C244*	probably null	Het
Snapc1	T	C	12: 74,021,812 (GRCm39)	S304P	probably benign	Het
Sp9	T	C	2: 73,104,019 (GRCm39)	L191P	probably damaging	Het
Spag17	A	T	3: 99,889,738 (GRCm39)	E202D	probably benign	Het
Ss18	A	G	18: 14,760,344 (GRCm39)	*419R	probably null	Het
Tacc2	A	G	7: 130,276,421 (GRCm39)	E1824G	possibly damaging	Het
Tacc3	T	A	5: 33,824,029 (GRCm39)		probably benign	Het
Tfap2a	A	T	13: 40,870,829 (GRCm39)	L353Q	probably damaging	Het
Ugt3a1	A	G	15: 9,367,345 (GRCm39)	I363V	possibly damaging	Het
Vmn1r158	A	G	7: 22,489,775 (GRCm39)	C145R	probably damaging	Het
Vmn1r23	A	T	6: 57,903,352 (GRCm39)	I142K	probably damaging	Het
Vmn2r15	A	T	5: 109,434,874 (GRCm39)	I610N	probably benign	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zbtb7c	T	C	18: 76,270,190 (GRCm39)	Y93H	probably damaging	Het
Zfp62	A	G	11: 49,107,238 (GRCm39)	N443S	probably damaging	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
R6280:Fxr1	UTSW	3	34,100,401 (GRCm39)	intron	probably benign
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
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

PCR Primer
(F):5'- ACAATCATCTTTGCTTGGTGG -3'
(R):5'- AAAAGACCGACTTTCCAAGAGTTAG -3'

Sequencing Primer
(F):5'- ACAATCATCTTTGCTTGGTGGTTATC -3'
(R):5'- CCGACTTTCCAAGAGTTAGCAAATTC -3'

Posted On

2021-04-30