Mutagenetix > Incidental Mutations

Incidental Mutation 'R7523:Fxr1'

582771

Institutional Source

Beutler Lab

Gene Symbol

Fxr1

Ensembl Gene

ENSMUSG00000027680

Gene Name

fragile X mental retardation gene 1, autosomal homolog

Synonyms

9530073J07Rik, Fxr1p, Fxr1h, 1110050J02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34019943-34070322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34039543 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 23 (V23A)

Ref Sequence

ENSEMBL: ENSMUSP00000143392 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001620
AA Change: V23A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001620
Gene: ENSMUSG00000027680
AA Change: V23A

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

possibly damaging
Transcript: ENSMUST00000197694
AA Change: V23A

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142441
Gene: ENSMUSG00000027680
AA Change: V23A

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

possibly damaging
Transcript: ENSMUST00000198051
AA Change: V23A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142847
Gene: ENSMUSG00000027680
AA Change: V23A

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

unknown
Transcript: ENSMUST00000200086
AA Change: V23A

SMART Domains

Protein: ENSMUSP00000143562
Gene: ENSMUSG00000027680
AA Change: V23A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200392
AA Change: V23A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143392
Gene: ENSMUSG00000027680
AA Change: V23A

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

0.4970

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (46/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,662,480	H40Q	unknown	Het
4932414N04Rik	A	T	2: 68,739,329	Q463L	probably benign	Het
Ano4	C	A	10: 88,971,395	E775*	probably null	Het
Atp12a	T	C	14: 56,365,968	V10A	possibly damaging	Het
Camkmt	A	G	17: 85,391,628	I144M	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,183,923		probably null	Het
Dazl	G	A	17: 50,287,541	T162I	probably damaging	Het
Dnah10	A	G	5: 124,747,739	K653R	probably damaging	Het
Exosc10	A	T	4: 148,563,842		probably null	Het
Fam96b	G	A	8: 104,641,772		probably benign	Het
Fbn2	T	C	18: 58,066,080	D1372G	probably benign	Het
Gmps	T	C	3: 64,011,666	I557T	possibly damaging	Het
Ifnab	A	T	4: 88,690,792	Y146N	probably damaging	Het
Krt78	T	C	15: 101,946,601	Y925C	not run	Het
Lrp1b	C	T	2: 41,511,461	V394M		Het
Ltbp2	T	C	12: 84,791,034	T1211A	probably benign	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mdn1	A	T	4: 32,667,270		probably null	Het
Myo15b	A	T	11: 115,890,858	I2798F	unknown	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Nectin2	A	G	7: 19,730,112	V314A	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nfx1	A	G	4: 41,016,119	I894V	probably benign	Het
Olfr1045	T	C	2: 86,198,045	K236E	probably damaging	Het
Olfr15	T	C	16: 3,839,699	V242A	probably benign	Het
Pdcd4	G	T	19: 53,910,948	V123F	probably damaging	Het
Pik3c3	C	T	18: 30,293,655	R275W	probably damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Ptbp3	A	G	4: 59,546,159	V11A	probably benign	Het
Ptpn22	A	G	3: 103,912,015	N795S	probably damaging	Het
Ptprg	T	G	14: 12,237,130	I1383S	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Sf3b3	A	G	8: 110,813,720	I1023T	probably benign	Het
Slc44a2	A	G	9: 21,345,992	E411G	probably null	Het
Stard9	T	C	2: 120,699,597	Y2112H	probably benign	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tenm2	A	T	11: 36,078,581		probably null	Het
Tle1	A	T	4: 72,145,418	S199R	possibly damaging	Het
Tubgcp2	A	G	7: 140,006,870	I399T	probably benign	Het
Ubr5	T	C	15: 38,004,055	N1344S		Het
Vmn2r114	A	G	17: 23,310,637	F164L	probably benign	Het
Vps13a	G	T	19: 16,703,789	T1041K	probably benign	Het
Zbtb20	T	C	16: 43,610,512	V389A	probably benign	Het
Zfp811	A	T	17: 32,797,752	I438N	probably benign	Het
Zfp90	A	G	8: 106,423,913	D86G	probably benign	Het

Other mutations in Fxr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:Fxr1	APN	3	34047627	splice site	probably benign
IGL01598:Fxr1	APN	3	34064232	missense	possibly damaging	0.61
Outer_limits	UTSW	3	34039543	missense	probably benign	0.30
pueblo	UTSW	3	34064232	missense	possibly damaging	0.61
R1294:Fxr1	UTSW	3	34047052	missense	probably benign	0.00
R2134:Fxr1	UTSW	3	34058047	missense	probably damaging	1.00
R2405:Fxr1	UTSW	3	34061854	missense	probably damaging	1.00
R3023:Fxr1	UTSW	3	34064224	missense	probably damaging	1.00
R3055:Fxr1	UTSW	3	34049184	missense	probably damaging	1.00
R3056:Fxr1	UTSW	3	34049184	missense	probably damaging	1.00
R4009:Fxr1	UTSW	3	34065022	missense	probably benign	0.31
R4010:Fxr1	UTSW	3	34065022	missense	probably benign	0.31
R4706:Fxr1	UTSW	3	34064129	missense	probably damaging	0.99
R4721:Fxr1	UTSW	3	34064232	missense	possibly damaging	0.61
R4877:Fxr1	UTSW	3	34047698	missense	probably damaging	0.99
R5583:Fxr1	UTSW	3	34068976	missense	probably benign	0.18
R6280:Fxr1	UTSW	3	34046252	intron	probably benign
R6801:Fxr1	UTSW	3	34054303	missense	possibly damaging	0.65
R7203:Fxr1	UTSW	3	34046540	missense	possibly damaging	0.76
R7422:Fxr1	UTSW	3	34049220	missense	probably damaging	1.00
R7785:Fxr1	UTSW	3	34046254	missense
R8195:Fxr1	UTSW	3	34047729	missense	probably damaging	1.00
R8250:Fxr1	UTSW	3	34047029	nonsense	probably null
X0067:Fxr1	UTSW	3	34046044	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- AAGTGTCTGTCTTTGTCTGTCCT -3'
(R):5'- ACTTGTGCATCTACTTCTGCA -3'

Sequencing Primer
(F):5'- GGAGGCAAGTATTCTACCAACTTAGC -3'
(R):5'- GCTGCTTACTGAATCATATCCATAC -3'

Posted On

2019-10-17