Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Fxr1'

374968

Institutional Source

Beutler Lab

Gene Symbol

Fxr1

Ensembl Gene

ENSMUSG00000027680

Gene Name

FMR1 autosomal homolog 1

Synonyms

1110050J02Rik, 9530073J07Rik, Fxr1p, Fxr1h

MMRRC Submission

042486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34074133-34124129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34101847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 109 (T109A)

Ref Sequence

ENSEMBL: ENSMUSP00000130216 (fasta)

Gene Model

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

AlphaFold

Q61584

Predicted Effect

probably damaging
Transcript: ENSMUST00000001620
AA Change: T194A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001620
Gene: ENSMUSG00000027680
AA Change: T194A

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 damaging
Transcript: ENSMUST00000167354
AA Change: T109A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130216
Gene: ENSMUSG00000027680
AA Change: T109A

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: T194A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142441
Gene: ENSMUSG00000027680
AA Change: T194A

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 benign
Transcript: ENSMUST00000197853

Predicted Effect

probably damaging
Transcript: ENSMUST00000198051
AA Change: T194A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142847
Gene: ENSMUSG00000027680
AA Change: T194A

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 damaging
Transcript: ENSMUST00000200392
AA Change: T194A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143392
Gene: ENSMUSG00000027680
AA Change: T194A

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

Meta Mutation Damage Score

0.1750

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,421 (GRCm39)	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,787 (GRCm39)	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,429,982 (GRCm39)		probably null	Het
Atp7b	T	A	8: 22,518,617 (GRCm39)	I74F	probably damaging	Het
Bod1l	A	G	5: 41,977,337 (GRCm39)	Y1326H	probably benign	Het
Card11	T	C	5: 140,871,632 (GRCm39)	S690G	probably damaging	Het
Cbx3	A	G	6: 51,459,540 (GRCm39)	E169G	possibly damaging	Het
Cd28	A	T	1: 60,808,861 (GRCm39)	M192L	possibly damaging	Het
Chd6	T	C	2: 160,871,219 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,866,056 (GRCm39)	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,151,457 (GRCm39)	V252E	probably damaging	Het
Dcp2	G	T	18: 44,550,659 (GRCm39)	G378C	probably benign	Het
Dip2b	A	T	15: 100,058,410 (GRCm39)	I196L	possibly damaging	Het
Erbin	G	A	13: 103,987,346 (GRCm39)	P405S	probably damaging	Het
Etv1	A	G	12: 38,881,292 (GRCm39)		probably null	Het
F830104G03Rik	T	G	3: 56,797,917 (GRCm39)	K33T	unknown	Het
Fbln2	C	A	6: 91,210,477 (GRCm39)	H140Q	probably damaging	Het
Gm10110	T	C	14: 90,134,785 (GRCm39)		noncoding transcript	Het
Gm9949	C	T	18: 62,317,140 (GRCm39)		probably benign	Het
Grin2d	A	G	7: 45,504,039 (GRCm39)	L604P	probably damaging	Het
Gstcd	A	T	3: 132,711,314 (GRCm39)		probably benign	Het
Ifna16	A	G	4: 88,594,681 (GRCm39)	V138A	probably benign	Het
Itpr2	T	A	6: 146,226,703 (GRCm39)	N1314I	probably damaging	Het
Kitl	T	C	10: 99,916,728 (GRCm39)	V177A	probably damaging	Het
L3mbtl1	A	T	2: 162,790,488 (GRCm39)	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,766,092 (GRCm39)	N232I	probably benign	Het
Lnx1	T	C	5: 74,788,784 (GRCm39)	R111G	probably benign	Het
Lrrc41	A	G	4: 115,936,602 (GRCm39)	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,069,899 (GRCm39)	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,731,936 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,857,734 (GRCm39)	Y2508N	probably damaging	Het
Masp2	A	T	4: 148,687,328 (GRCm39)	Y70F	probably benign	Het
Mc4r	T	C	18: 66,992,409 (GRCm39)	I235V	probably benign	Het
Med12l	G	A	3: 59,152,214 (GRCm39)	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,357,712 (GRCm39)	H20R	probably benign	Het
Ms4a1	A	T	19: 11,231,857 (GRCm39)	S173T	probably damaging	Het
Myh13	A	C	11: 67,228,477 (GRCm39)	D339A	probably damaging	Het
Nars1	A	T	18: 64,633,643 (GRCm39)	Y542*	probably null	Het
Nectin2	G	A	7: 19,451,645 (GRCm39)	T463I	possibly damaging	Het
Nrg4	A	G	9: 55,166,679 (GRCm39)	F64L	probably benign	Het
Nrxn1	T	A	17: 91,395,605 (GRCm39)	I184F	probably benign	Het
Nxph2	C	T	2: 23,289,846 (GRCm39)	P66L	probably benign	Het
Or10ag2	C	T	2: 87,248,907 (GRCm39)	Q170*	probably null	Het
Or2v1	C	A	11: 49,025,608 (GRCm39)	F196L	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Patj	A	G	4: 98,457,295 (GRCm39)	I48V	possibly damaging	Het
Paxbp1	T	C	16: 90,841,199 (GRCm39)		probably benign	Het
Pou2f3	A	T	9: 43,050,618 (GRCm39)	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 37,026,214 (GRCm39)	D17G	probably damaging	Het
Rgs8	A	G	1: 153,568,633 (GRCm39)		probably benign	Het
Rnd3	A	G	2: 51,038,762 (GRCm39)	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,263,620 (GRCm39)	R247G	probably benign	Het
Sec31b	A	T	19: 44,524,172 (GRCm39)	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,833,702 (GRCm39)	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,599,622 (GRCm39)	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,850,337 (GRCm39)	L597P	probably damaging	Het
Srr	G	T	11: 74,798,606 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgif1	A	C	17: 71,156,700 (GRCm39)		probably null	Het
Tle3	A	T	9: 61,280,781 (GRCm39)		probably benign	Het
Tubgcp4	A	G	2: 121,020,343 (GRCm39)	T439A	probably benign	Het
Twist1	C	T	12: 34,008,350 (GRCm39)	T125M	probably damaging	Het
Unc13a	T	A	8: 72,111,260 (GRCm39)	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,955,407 (GRCm39)		noncoding transcript	Het
Vps72	G	T	3: 95,025,498 (GRCm39)		probably benign	Het
Zfp184	T	C	13: 22,144,498 (GRCm39)	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,748,725 (GRCm39)	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,353,251 (GRCm39)	H678R	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
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
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

PCR Primer
(F):5'- AACACGCATTCTGAGCAGC -3'
(R):5'- TCTTAAGGACTCTTGGTATTAGCC -3'

Sequencing Primer
(F):5'- TCAGCAGATTAGAAAGTAAGATTACG -3'
(R):5'- CCATAAAAACATAGGTCTTAGGTGGC -3'

Posted On

2016-03-17